PDB ID 1HLU     CHAIN A
Protein name BETA-ACTIN
Uniprot Accession P60712
The number of similar proteins 208
The number of binding states 56
The number of binding partners 43

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   DDDIAALVVD   NGSGMCKAGF   AGDDAPRAVF   PSIVGRPRHQ   GVMVGMGQKD   50
51   SYVGDEAQSK   RGILTLKYPI   EXGIVTNWDD   MEKIWHHTFY   NELRVAPEEH   100
101   PVLLTEAPLN   PKANREKMTQ   IMFETFNTPA   MYVAIQAVLS   LYASGRTTGI   150
151   VMDSGDGVTH   TVPIYEGYAL   PHAILRLDLA   GRDLTDYLMK   ILTERGYSFT   200
201   TTAEREIVRD   IKEKLCYVAL   DFEQEMATAA   SSSSLEKSYE   LPDGQVITIG   250
251   NERFRCPEAL   FQPSFLGMES   CGIHETTFNS   IMKCDVDIRK   DLYANTVLSG   300
301   GTTMYPGIAD   RMQKEITALA   PSTMKIKIIA   PPERKYSVWI   GGSILASLST   350
351   FQQMWISKQE   YDESGPSIVH   RKCF       400

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
2_ASP TYR ClinVar
chr7:5569285 		rs1784841309
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
2_ASP ASN 8.3kJPN
chr2:132021132 		-
- 0.0001 -
3_ASP VAL 8.3kJPN
chr2:132021136 		-
- 0.0001 -
4_GLU LYS ClinVar
chr1:229568847 		rs367543048
Pathogenic/Likely pathogenic - Congenital myopathy with fiber type disproportion|Progressive scapulohumeroperoneal distal myopathy|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
6_ALA THR gnomAD
chr2:131221501 		rs1332199716
- 0.000254065 -
6_ALA THR gnomAD
chr2:131414338 		rs201265731
- 0.102886 -
6_ALA THR 8.3kJPN
chr2:130832929 		rs373944612
- 0.0001 -
6_ALA THR 8.3kJPN
chr2:131221501 		rs1332199716
- 0.0001 -
6_ALA THR 8.3kJPN
chr2:131414338 		rs201265731
- 0.2723 -
7_ALA THR ClinVar
chr7:5569270 		rs1562720119
Likely pathogenic - Baraitser-Winter syndrome 1|Intellectual disability [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
9_VAL ILE gnomAD
chr2:131414347 		rs369601422
- 0.000174562 -
10_CYS TER ClinVar
chr1:229568827 		rs1025502215
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
11_ASP VAL gnomAD
chr2:131414354 		rs199811130
- 0.00514982 -
11_ASP GLU 8.3kJPN
chr2:132021161 		rs772893062
- 0.0008 -
12_ASN ASP ClinVar
chr7:5569255 		rs281875331
Pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
12_ASN HIS ClinVar
chr7:5569255 		rs281875331
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
13_GLY SER gnomAD
chr2:131221480 		rs1409478520
- 0.000158781 -
13_GLY SER 8.3kJPN
chr2:131414359 		rs750203790
- 0.0001 -
13_GLY VAL 8.3kJPN
chr2:131414360 		-
- 0.0001 -
14_SER PRO ClinVar
chr10:90708642 		rs1554841990
Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
15_GLY ARG ClinVar
chr1:229568814 		rs121909521
Pathogenic/Likely pathogenic - not provided|Congenital myopathy 2c, severe infantile, autosomal dominant [MedGen:C3661900|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
15_GLY ARG ClinVar
chr17:79479338 		rs1057518086
Likely pathogenic - not provided [MedGen:CN517202]
15_GLY SER ClinVar
chr1:229568814 		rs121909521
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
15_GLY ASP ClinVar
chr1:229568813 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
15_GLY ALA 8.3kJPN
chr2:132021172 		-
- 0.0001 -
17_CYS ARG ClinVar
chr10:90708633 		rs2133273980
Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
17_CYS TYR gnomAD
chr2:132021178 		rs572380570
- 0.00178255 -
17_CYS TRP 8.3kJPN
chr2:130832894 		rs752127722
- 0.0007 -
17_CYS TRP 8.3kJPN
chr2:132021179 		-
- 0.0004 -
18_LYS ASN ClinVar
chr1:229568803 		rs1659986226
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
20_GLY SER gnomAD
chr2:131221459 		rs763977846
- 0.000384848 -
20_GLY SER gnomAD
chr2:131414380 		rs62165277
- 0.00625704 -
20_GLY SER gnomAD
chr2:132021186 		rs576069372
- 0.000516335 -
20_GLY SER 8.3kJPN
chr2:131221459 		rs763977846
- 0.0001 -
21_PHE LEU 8.3kJPN
chr2:130832882 		-
- 0.0001 -
22_ALA THR ClinVar
chr7:5569225 		rs587780273
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
22_ALA VAL gnomAD
chr2:130832880 		rs550448684
- 0.000152825 -
22_ALA VAL gnomAD
chr2:131221452 		rs545218271
- 0.000222061 -
22_ALA VAL gnomAD
chr2:131414387 		rs770279792
- 0.000137744 -
22_ALA VAL 8.3kJPN
chr2:130832880 		rs550448684
- 0.0035 -
22_ALA VAL 8.3kJPN
chr2:131414387 		rs770279792
- 0.0011 -
22_ALA THR 8.3kJPN
chr2:132021192 		-
- 0.0001 -
24_ASP ASN ClinVar
chr7:5569219 		rs2128241451
Likely pathogenic - ACTB-related BAFopathy [-]
24_ASP ASN gnomAD
chr2:131414392 		rs572289826
- 0.000151467 -
24_ASP ASN 8.3kJPN
chr2:131414392 		rs572289826
- 0.0002 -
25_ASP GLY ClinVar
chr1:229568783 		rs1553255534
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
25_ASP ASN ClinVar
chr7:5569216 		rs1784839731
Likely pathogenic - not provided [MedGen:CN517202]
25_ASP VAL 8.3kJPN
chr2:130832871 		-
- 0.0001 -
25_ASP GLU 8.3kJPN
chr5:56778457 		-
- 0.0001 -
26_ALA VAL ClinVar
chr17:79479304 		rs371967814
Likely pathogenic - not provided [MedGen:C3661900]
26_ALA VAL gnomAD
chr2:131221440 		rs777332284
- 0.00012477 -
26_ALA ASP 8.3kJPN
chr2:131221440 		rs777332284
- 0.0001 -
28_ARG LYS ClinVar
chr1:229568774 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
28_ARG TRP gnomAD
chr2:131414404 		rs201522325
- 0.00779991 -
28_ARG TRP gnomAD
chr2:132021210 		rs545154090
- 0.000809239 -
28_ARG GLN 8.3kJPN
chr2:130832862 		rs755975114
- 0.0001 -
28_ARG TRP 8.3kJPN
chr2:131414404 		rs201522325
- 0.0002 -
28_ARG GLN 8.3kJPN
chr2:132021211 		rs1443877295
- 0.0001 -
30_VAL LEU gnomAD
chr2:131414410 		rs199621042
- 0.00366486 -
32_PRO SER ClinVar
chr17:79479287 		rs1598551290
Pathogenic/Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20|not provided|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MedGen:C3661900|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
32_PRO ARG ClinVar
chr7:5569194 		-
Likely pathogenic - ACTB-related condition [-]
32_PRO ALA 8.3kJPN
chr2:74128535 		-
- 0.0001 -
35_VAL LEU ClinVar
chr1:229568754 		rs1553255521
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
35_VAL LEU ClinVar
chr1:229568754 		rs1553255521
Pathogenic - Actin accumulation myopathy|not provided|See cases [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MedGen:C3661900|]
35_VAL MET 8.3kJPN
chr2:131414425 		rs761434672
- 0.0001 -
36_GLY ALA ClinVar
chr1:229568750 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
37_ARG CYS ClinVar
chr10:90708573 		rs112901682
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided|See cases [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|]
37_ARG HIS ClinVar
chr10:90708572 		rs794728021
Pathogenic/Likely pathogenic - not provided|Aortic aneurysm, familial thoracic 6|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MedGen:CN078214|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
37_ARG GLY ClinVar
chr10:90708573 		rs112901682
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6|not provided|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
37_ARG HIS ClinVar
chr2:74128551 		rs869312168
Pathogenic - Chronic intestinal pseudoobstruction [MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]
37_ARG SER ClinVar
chr10:90708573 		rs112901682
Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
37_ARG HIS gnomAD
chr2:131221407 		rs573399018
- 0.000416926 -
37_ARG CYS gnomAD
chr2:131221408 		rs4588202
- 0.00104824 -
37_CYS ARG gnomAD
chr2:131414431 		rs71221348
- 0.0102863 -
37_ARG SER gnomAD
chr5:56778423 		rs78342986
- 0.00192919 -
37_ARG CYS 8.3kJPN
chr2:130832836 		rs776009831
- 0.0001 -
37_ARG HIS 8.3kJPN
chr2:131221407 		rs573399018
- 0.0002 -
37_CYS ARG 8.3kJPN
chr2:131414431 		rs71221348
- 0.317 -
37_CYS TYR 8.3kJPN
chr2:131414432 		rs1411955803
- 0.0002 -
37_ARG CYS 8.3kJPN
chr2:132021237 		rs780573182
- 0.0002 -
37_ARG HIS 8.3kJPN
chr5:56778422 		rs765705222
- 0.0001 -
38_PRO LEU ClinVar
chr7:5569176 		rs1554329646
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
38_PRO LEU ClinVar
chr2:74128554 		rs1573461481
Pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
38_PRO ARG ClinVar
chr2:74128554 		-
Likely pathogenic - Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
38_PRO SER gnomAD
chr2:131221405 		rs200199864
- 0.000120323 -
38_PRO ALA gnomAD
chr2:131221405 		rs200199864
- 0.00224952 -
39_ARG CYS ClinVar
chr2:74128556 		rs587777385
Pathogenic/Likely pathogenic - Visceral myopathy 1|not provided|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MedGen:C3661900|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
39_ARG HIS ClinVar
chr2:74128557 		rs587777386
Pathogenic/Likely pathogenic - Visceral myopathy 1|Visceral neuropathy, familial, 3, autosomal dominant|Chronic intestinal pseudoobstruction|not provided|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MONDO:MONDO:0012317,MedGen:C1864996,OMIM:609629,Orphanet:2978|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978|MedGen:C3661900|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]; Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
39_ARG TER ClinVar
chr1:229568742 		-
Pathogenic - Congenital myopathy 2b, severe infantile, autosomal recessive [MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265]
39_ARG LEU ClinVar
chr1:229568741 		-
Likely pathogenic - not provided [MedGen:CN517202]
40_HIS TYR ClinVar
chr17:79479263 		rs1057518673
Likely pathogenic - Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
40_HIS TYR ClinVar
chr7:5569171 		rs1373863123
Likely pathogenic - ACTB-related BAFopathy|Baraitser-Winter syndrome 1 [|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
40_HIS TYR ClinVar
chr1:229568739 		rs2102736554
Pathogenic - Actin accumulation myopathy|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
40_GLN HIS gnomAD
chr2:130832825 		rs369584181
- 0.00452255 -
40_GLN HIS gnomAD
chr2:131221397 		rs539655972
- 0.00089631 -
40_GLN HIS 8.3kJPN
chr2:131221397 		rs539655972
- 0.0054 -
40_GLN HIS 8.3kJPN
chr2:131414442 		rs542301166
- 0.0014 -
40_HIS GLN 8.3kJPN
chr5:56778412 		-
- 0.0001 -
41_GLN ARG ClinVar
chr1:229568735 		rs1659984269
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
41_GLN GLU 8.3kJPN
chr2:131414443 		rs1394024885
- 0.0001 -
43_VAL PHE ClinVar
chr1:229568624 		rs398123562
Pathogenic/Likely pathogenic - Actin accumulation myopathy|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MedGen:C3661900]
43_VAL MET ClinVar
chr7:5569028 		rs886041267
Pathogenic - not provided [MedGen:CN517202]
43_MET THR gnomAD
chr2:131414450 		rs749813601
- 0.000356104 -
43_VAL ILE gnomAD
chr5:56778405 		rs145144528
- 0.000609683 -
43_MET ILE 8.3kJPN
chr2:131414451 		rs541398584
- 0.0001 -
44_MET THR ClinVar
chr2:74129494 		rs864309490
Pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
44_MET ILE ClinVar
chr10:90707135 		rs878854466
Pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
44_MET LYS ClinVar
chr17:79479161 		rs886041280
Likely pathogenic - not provided [MedGen:CN517202]
44_MET THR ClinVar
chr1:229568620 		rs1057521120
Pathogenic/Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
44_MET ARG ClinVar
chr10:90707136 		rs1554841843
Likely pathogenic - not provided [MedGen:CN517202]
44_MET ILE ClinVar
chr10:90707135 		rs878854466
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6|not provided [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MedGen:C3661900]
44_MET ILE gnomAD
chr2:131221385 		rs550645367
- 0.00126733 -
44_MET ILE 8.3kJPN
chr2:130832813 		rs1160949599
- 0.0005 -
44_MET VAL 8.3kJPN
chr2:130832815 		rs747907032
- 0.0008 -
44_MET ILE 8.3kJPN
chr2:131221385 		rs550645367
- 0.0059 -
44_MET ILE 8.3kJPN
chr2:131414454 		rs1173838414
- 0.0026 -
45_GLY GLU gnomAD
chr2:131221383 		rs535405991
- 0.000898709 -
45_GLY ARG gnomAD
chr2:131414455 		rs776457920
- 0.00022774 -
45_GLY GLU 8.3kJPN
chr2:131221383 		rs535405991
- 0.0054 -
45_GLY GLU 8.3kJPN
chr2:131414456 		rs747737493
- 0.0016 -
46_GLY ASP ClinVar
chr1:229568614 		rs367543049
Pathogenic - Congenital myopathy with fiber type disproportion|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY SER ClinVar
chr1:229568615 		rs794727488
Pathogenic/Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY VAL ClinVar
chr1:229568614 		rs367543049
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY ARG ClinVar
chr1:229568615 		rs794727488
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY ALA ClinVar
chr1:229568614 		-
Likely pathogenic - Congenital myopathy with fiber type disproportion [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020]
46_GLY ASP gnomAD
chr2:131221380 		rs749435746
- 0.00135913 -
46_GLY ASP gnomAD
chr2:132021265 		rs775605868
- 0.000295371 -
46_GLY SER gnomAD
chr5:56778396 		rs561247849
- 0.000151426 -
47_MET VAL ClinVar
chr10:90707128 		rs397515325
Pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
47_MET THR ClinVar
chr10:90707127 		rs869025352
Likely pathogenic - Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
47_MET ARG ClinVar
chr1:229568611 		rs1553255506
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
47_MET ILE ClinVar
chr7:5569014 		rs2128241411
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
47_MET VAL ClinVar
chr1:229568612 		-
Pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
48_GLY VAL ClinVar
chr1:229568608 		rs1659980066
Likely pathogenic - not provided [MedGen:C3661900]
48_GLY CYS ClinVar
chr7:5569013 		rs2128241410
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
49_GLN HIS 8.3kJPN
chr2:132021275 		-
- 0.0001 -
50_LYS THR ClinVar
chr15:35085745 		rs2140432240
Likely pathogenic - Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]; Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]
51_ASP ASN ClinVar
chr17:79479141 		-
Pathogenic/Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20|Baraitser-winter syndrome 2 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
51_GLU TER 8.3kJPN
chr2:131414473 		rs767259354
- 0.0002 -
52_CYS SER 8.3kJPN
chr5:56778378 		-
- 0.0001 -
53_TYR CYS ClinVar
chr7:5568997 		rs2128241408
Likely pathogenic - not provided|Baraitser-Winter syndrome 1 [MedGen:C3661900|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
53_TYR ASN gnomAD
chr2:132021285 		rs200763665
- 0.000889051 -
53_TYR TER 8.3kJPN
chr2:74129522 		-
- 0.0001 -
54_VAL ILE 8.3kJPN
chr15:35085734 		rs944740404
- 0.0001 -
55_GLY ARG ClinVar
chr1:229568588 		rs2102736416
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
55_GLY ALA gnomAD
chr2:131414486 		rs753854975
- 0.000243161 -
55_GLY GLU 8.3kJPN
chr2:74129527 		-
- 0.0001 -
56_ASP ASN ClinVar
chr1:229568585 		rs1085308014
Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
56_ASP ASN ClinVar
chr7:5568989 		rs1584263049
Likely pathogenic - not provided [MedGen:C3661900]
56_ASP TYR ClinVar
chr7:5568989 		rs1584263049
Likely pathogenic - Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
56_LYS GLU gnomAD
chr2:132021294 		rs375157128
- 0.00118207 -
58_ALA VAL ClinVar
chr7:5568982 		rs1784832575
Likely pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
59_GLN TER ClinVar
chr1:229568576 		rs2102736408
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
59_GLN PRO 8.3kJPN
chr2:132021304 		-
- 0.0001 -
60_SER ASN ClinVar
chr7:5568976 		rs755437923
Likely pathogenic - Microcephaly [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]; Abnormal brain morphology [Human Phenotype Ontology:HP:0012443,MedGen:C4021085]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]
60_SER ARG ClinVar
chr7:5568975 		-
Likely pathogenic - not provided [MedGen:CN517202]
60_SER GLY 8.3kJPN
chr15:35085716 		-
- 0.0001 -
62_ARG GLY ClinVar
chr2:74129547 		rs864309491
Pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
62_ARG GLN ClinVar
chr2:74129548 		rs1573462811
Pathogenic - Visceral myopathy 1|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
62_ARG LEU ClinVar
chr2:74129548 		-
Likely pathogenic - Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
63_GLY ALA ClinVar
chr17:79479104 		-
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
64_ILE ASN ClinVar
chr1:229568560 		rs1553255502
Pathogenic/Likely pathogenic - Actin accumulation myopathy|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MedGen:C3661900]
64_ILE SER ClinVar
chr1:229568560 		rs1553255502
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
65_LEU VAL ClinVar
chr7:5568962 		rs281875332
Pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
65_LEU PHE ClinVar
chr7:5568962 		rs281875332
Likely pathogenic - Baraitser-Winter syndrome 1|Intellectual disability|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900]
66_THR ASN 8.3kJPN
chr2:131414519 		-
- 0.0001 -
68_LYS ARG ClinVar
chr1:229568548 		rs1571893885
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
69_TYR CYS ClinVar
chr17:79479086 		rs781953399
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
70_PRO LEU ClinVar
chr7:5568946 		rs587779769
Pathogenic/Likely pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
70_PRO ARG ClinVar
chr1:229568542 		rs1659978909
Pathogenic/Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
70_PRO LEU ClinVar
chr17:79479083 		rs2143783696
Pathogenic - Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
71_ILE VAL ClinVar
chr1:229568540 		rs1131691728
Pathogenic - not provided [MedGen:CN517202]
71_ILE SER ClinVar
chr1:229568539 		rs1553255501
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
71_ILE THR ClinVar
chr10:90707055 		-
Pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
72_GLU GLY ClinVar
chr7:5568940 		rs1131691341
Likely pathogenic - not provided|Baraitser-Winter syndrome 1 [MedGen:CN517202|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
73_HIS ASP ClinVar
chr7:5568938 		rs786205585
Likely pathogenic - not provided [MedGen:C3661900]
73_HIS TYR ClinVar
chr7:5568938 		rs786205585
Pathogenic/Likely pathogenic - Baraitser-Winter syndrome 1|Neurodevelopmental delay [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
73_HIS GLN ClinVar
chr7:5568936 		-
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
74_GLY SER ClinVar
chr7:5568935 		rs587779770
Likely pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900]
74_GLY ARG ClinVar
chr1:229568531 		rs1246861211
Pathogenic - Non-immune hydrops fetalis [Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999]
74_GLY CYS ClinVar
chr7:5568935 		-
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
74_GLY SER gnomAD
chr2:131221297 		rs528144716
- 0.000250765 -
74_GLY ARG 8.3kJPN
chr5:56778312 		-
- 0.0001 -
75_ILE THR ClinVar
chr7:5568931 		rs587779771
Likely pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
76_ILE ASN gnomAD
chr2:132021355 		rs763149872
- 0.00042001 -
76_VAL ALA gnomAD
chr5:56778305 		rs148214432
- 0.00316009 -
77_THR ILE ClinVar
chr1:229568521 		rs1659978452
Pathogenic/Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
78_ASN THR ClinVar
chr1:229568518 		-
Likely pathogenic - not provided [MedGen:CN517202]
79_TRP TER ClinVar
chr1:229568514 		rs886039302
Likely pathogenic - not provided [MedGen:CN517202]
85_ILE VAL 8.3kJPN
chr15:35085641 		-
- 0.0001 -
86_TRP CYS ClinVar
chr7:5568897 		rs1554329554
Likely pathogenic - not provided [MedGen:CN517202]
86_TRP SER 8.3kJPN
chr2:131221260 		rs563841880
- 0.0054 -
86_TRP SER 8.3kJPN
chr2:131414579 		-
- 0.0005 -
87_HIS ASP ClinVar
chr7:5568896 		rs1554329552
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
87_HIS GLN 8.3kJPN
chr2:130832684 		rs746928594
- 0.0001 -
89_THR ILE ClinVar
chr17:79479026 		rs28999111
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
92_ASN LYS ClinVar
chr1:229568475 		rs772124885
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
92_ASN TYR ClinVar
chr1:229568477 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
92_ASN LYS 8.3kJPN
chr2:130832669 		rs538524883
- 0.0001 -
93_GLU LYS ClinVar
chr17:79479015 		rs1568062529
Likely pathogenic - not provided [MedGen:CN517202]
93_GLU LYS gnomAD
chr2:130832668 		rs201364219
- 0.000259142 -
93_GLU LYS 8.3kJPN
chr2:130832668 		rs201364219
- 0.0059 -
94_LEU PRO ClinVar
chr1:229568470 		rs121909519
Pathogenic/Likely pathogenic - Actin accumulation myopathy|Congenital myopathy 2b, severe infantile, autosomal recessive|ACTA1-related myopathies [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265|]
94_LEU VAL ClinVar
chr1:229568471 		rs2102736312
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
95_ARG HIS gnomAD
chr2:131414606 		rs566028178
- 0.000154716 -
95_ARG LEU gnomAD
chr2:131414606 		rs566028178
- 0.000101787 -
95_ARG CYS gnomAD
chr2:132021411 		rs376647430
- 0.000108282 -
95_ARG CYS 8.3kJPN
chr2:131221234 		rs781391909
- 0.0001 -
95_ARG HIS 8.3kJPN
chr2:131414606 		rs566028178
- 0.0002 -
95_ARG CYS 8.3kJPN
chr2:132021411 		rs376647430
- 0.0001 -
97_ALA SER 8.3kJPN
chr2:131221228 		rs563175525
- 0.0001 -
97_ALA SER 8.3kJPN
chr2:131414611 		rs1007933915
- 0.0001 -
99_GLU LYS ClinVar
chr15:35085599 		rs193922680
Pathogenic/Likely pathogenic - Hypertrophic cardiomyopathy 11|Left ventricular noncompaction 4|Primary familial hypertrophic cardiomyopathy|not provided|Atrial septal defect 5 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0800350,MedGen:C3150682|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MedGen:C3661900|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11|Cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1R|Cardiovascular phenotype [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN230736]
99_GLU LYS gnomAD
chr2:131414617 		rs569835408
- 0.000512725 -
99_ASP GLU gnomAD
chr5:56778235 		rs147178651
- 0.00348686 -
99_GLU TER 8.3kJPN
chr1:229568456 		-
- 0.0001 -
100_GLU LYS gnomAD
chr2:131221219 		rs544614951
- 0.000347486 -
101_HIS LEU gnomAD
chr2:131221215 		rs201456236
- 0.00153437 -
101_HIS ARG 8.3kJPN
chr2:131221215 		-
- 0.0001 -
102_PRO HIS gnomAD
chr2:131221212 		rs773580422
- 0.000347725 -
102_PRO ARG 8.3kJPN
chr2:131221212 		-
- 0.0001 -
103_ILE VAL gnomAD
chr5:56778225 		rs147643155
- 0.00131479 -
103_VAL ILE 8.3kJPN
chr2:130832638 		rs4608469
- 0.0006 -
103_ILE VAL 8.3kJPN
chr2:131414629 		rs762041881
- 0.0001 -
104_LEU PRO ClinVar
chr1:229568440 		-
Likely pathogenic - Neuromuscular disease [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381]
104_LEU PRO 8.3kJPN
chr2:131414633 		rs1481441001
- 0.0001 -
107_GLU ASP ClinVar
chr1:229568430 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
107_GLU LYS gnomAD
chr2:132021447 		rs377464122
- 0.000120303 -
107_GLU LYS gnomAD
chr5:56778213 		rs73757391
- 0.00637031 -
107_GLU LYS 8.3kJPN
chr2:131414641 		rs752054462
- 0.0001 -
108_ALA ASP ClinVar
chr7:5568832 		rs1411316425
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
108_ALA THR gnomAD
chr2:130832623 		rs201946907
- 0.000206799 -
108_ALA THR 8.3kJPN
chr2:131414644 		rs755328446
- 0.0002 -
109_PRO SER ClinVar
chr7:5568830 		rs1784829872
Likely pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
109_THR ILE 8.3kJPN
chr2:130832619 		rs758907582
- 0.0001 -
109_THR PRO 8.3kJPN
chr2:130832620 		rs4494683
- 0.0002 -
110_LEU PRO gnomAD
chr5:56778203 		rs76155491
- 0.00129865 -
111_ASN ASP ClinVar
chr7:5568824 		rs2128241389
Likely pathogenic - Congenital smooth muscle hamartoma [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435]
111_ASN SER ClinVar
chr1:229568419 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
111_ASN ASP 8.3kJPN
chr2:131414653 		rs558817093
- 0.001 -
112_PRO ALA ClinVar
chr2:74135881 		rs1573468797
Likely pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
112_PRO ARG gnomAD
chr2:132021463 		rs200002532
- 0.00363556 -
112_PRO ALA 8.3kJPN
chr2:131221183 		rs755787111
- 0.0016 -
113_LYS ARG ClinVar
chr15:35085556 		rs2140431879
Likely pathogenic - not provided [MedGen:C3661900]
114_ALA VAL ClinVar
chr1:229568410 		rs1659975747
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
114_ALA THR ClinVar
chr1:229568411 		rs1659975786
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
115_ASN SER ClinVar
chr1:229568407 		rs121909520
Pathogenic - Actin accumulation myopathy|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MedGen:C3661900]
115_ASN SER ClinVar
chr2:74135891 		rs1057522054
Likely pathogenic - not provided [MedGen:CN517202]
115_ASN LYS ClinVar
chr2:74135892 		rs757905857
Likely pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
115_ASN ILE 8.3kJPN
chr2:131221173 		rs765608208
- 0.0002 -
116_ARG GLN ClinVar
chr10:90703570 		rs112602953
Pathogenic/Likely pathogenic - not provided|Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6 [MedGen:C3661900|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]; Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]; Moyamoya disease 5 [MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573]
116_ARG HIS gnomAD
chr2:131221170 		rs4369872
- 0.894368 -
116_ARG HIS gnomAD
chr2:131414669 		rs541111504
- 0.00274702 -
116_ARG CYS gnomAD
chr2:132021474 		rs777240667
- 0.000261074 -
116_ARG HIS 8.3kJPN
chr2:130832598 		rs3948036
- 0.001 -
116_ARG HIS 8.3kJPN
chr2:131221170 		rs4369872
- 0.9766 -
116_ARG HIS 8.3kJPN
chr2:131414669 		rs541111504
- 0.1205 -
116_ARG CYS 8.3kJPN
chr2:132021474 		rs777240667
- 0.0001 -
116_ARG HIS 8.3kJPN
chr2:132021475 		rs11546936
- 0.0058 -
116_ARG GLN 8.3kJPN
chr5:56778185 		rs780632687
- 0.0001 -
117_GLU LYS ClinVar
chr7:5568806 		rs397515470
Pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900]
117_GLU ASP ClinVar
chr7:5568804 		rs765265404
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
117_GLU VAL ClinVar
chr7:5568805 		rs1554329516
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
117_GLU LYS 8.3kJPN
chr2:131221168 		rs760790422
- 0.0002 -
117_GLU LYS 8.3kJPN
chr2:131414671 		rs773477590
- 0.0001 -
117_GLU GLY 8.3kJPN
chr2:131414672 		-
- 0.0001 -
118_LYS MET ClinVar
chr17:79478939 		rs104894544
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20|not provided|Nonsyndromic genetic hearing loss [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MedGen:C3661900|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884]
118_LYS ASN ClinVar
chr17:79478938 		rs267606630
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20|not provided [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MedGen:CN517202]
118_LYS ASN ClinVar
chr17:79478938 		rs267606630
Pathogenic - not provided [MedGen:C3661900]
118_LYS MET ClinVar
chr1:229568398 		rs2102736219
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
119_MET THR ClinVar
chr7:5568799 		rs587779773
Pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN517202]
119_MET LEU gnomAD
chr2:131414677 		rs763146288
- 0.000100937 -
119_MET ILE 8.3kJPN
chr2:131414679 		rs766525244
- 0.0001 -
120_THR ILE ClinVar
chr17:79478933 		rs281875325
Pathogenic/Likely pathogenic - Baraitser-winter syndrome 2|not provided|See cases [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MedGen:CN517202|]
120_THR ILE ClinVar
chr7:5568796 		rs587779774
Pathogenic - Baraitser-Winter syndrome 1|Baraitser-Winter syndrome [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995]
120_THR PRO ClinVar
chr1:229568393 		-
Likely pathogenic - Myopathy [Human Phenotype Ontology:HP:0003198,Human Phenotype Ontology:HP:0003569,Human Phenotype Ontology:HP:0003705,Human Phenotype Ontology:HP:0003742,Human Phenotype Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848]
122_ILE THR gnomAD
chr2:131414687 		rs760030744
- 0.000113968 -
123_MET VAL ClinVar
chr15:35085527 		rs121912677
Pathogenic - Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]
123_MET THR gnomAD
chr2:131414690 		rs767825200
- 0.00115681 -
123_MET THR 8.3kJPN
chr17:79478648 		-
- 0.0001 -
124_PHE LEU 8.3kJPN
chr2:132021500 		rs746151227
- 0.0001 -
128_ASN ASP 8.3kJPN
chr2:131221135 		rs568363873
- 0.0017 -
128_ASN ASP 8.3kJPN
chr2:131414704 		-
- 0.0002 -
128_ASN SER 8.3kJPN
chr2:132021511 		rs1479966238
- 0.0001 -
129_THR PRO gnomAD
chr2:131221132 		rs780643718
- 0.000219714 -
132_MET ILE ClinVar
chr1:229568355 		rs1553255486
Likely pathogenic - Actin accumulation myopathy|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MedGen:C3661900]
132_MET ILE ClinVar
chr1:229568355 		rs1553255486
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
132_MET VAL ClinVar
chr1:229568357 		rs1659974377
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
132_MET THR 8.3kJPN
chr2:74136213 		rs762026736
- 0.0001 -
132_MET ILE 8.3kJPN
chr2:130832549 		-
- 0.0001 -
132_MET THR 8.3kJPN
chr2:132021523 		rs762400742
- 0.0001 -
133_TYR ASN ClinVar
chr2:74136215 		rs587777388
Pathogenic - Visceral myopathy 1|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
134_VAL MET gnomAD
chr2:130832545 		rs199777567
- 0.00248706 -
135_ALA VAL ClinVar
chr17:79478612 		rs11549190
Pathogenic/Likely pathogenic - Baraitser-winter syndrome 2|not provided|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MedGen:C3661900|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
136_ILE MET ClinVar
chr1:229568343 		rs121909526
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
136_ILE ASN ClinVar
chr1:229568344 		rs587780271
Likely pathogenic - Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
137_GLN HIS ClinVar
chr7:5568303 		rs1388870915
Likely pathogenic - Congenital smooth muscle hamartoma [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435]
137_GLN ARG 8.3kJPN
chr5:56778122 		-
- 0.0001 -
138_ALA GLY ClinVar
chr1:229568338 		rs1435160117
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
138_ALA ASP ClinVar
chr1:229568338 		rs1435160117
Pathogenic/Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
139_MET VAL gnomAD
chr2:131221102 		rs4531942
- 0.996794 -
139_MET VAL gnomAD
chr2:131414737 		rs773598134
- 0.00869711 -
139_VAL MET 8.3kJPN
chr2:130832530 		rs2599795
- 0.0001 -
139_MET VAL 8.3kJPN
chr2:131221102 		rs4531942
- 0.9932 -
139_MET VAL 8.3kJPN
chr2:131414737 		rs773598134
- 0.2871 -
139_VAL MET 8.3kJPN
chr2:132021543 		rs753827162
- 0.0002 -
140_LEU PRO ClinVar
chr1:229568332 		rs1553255482
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
140_PRO LEU 8.3kJPN
chr2:132021547 		rs7425410
- 0.0956 -
142_LEU PHE ClinVar
chr1:229568327 		rs886039557
Pathogenic/Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
142_LEU ARG 8.3kJPN
chr2:132021553 		-
- 0.0001 -
143_TYR TER ClinVar
chr1:229568322 		rs371410845
Pathogenic/Likely pathogenic - not provided|Progressive scapulohumeroperoneal distal myopathy [MedGen:C3661900|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]; Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]; Congenital myopathy with fiber type disproportion|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
144_ALA VAL ClinVar
chr17:79478585 		-
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
144_ALA THR ClinVar
chr7:5568284 		-
Likely pathogenic - not provided [MedGen:CN517202]
144_THR PRO 8.3kJPN
chr2:130832515 		-
- 0.0001 -
144_ALA VAL 8.3kJPN
chr5:56778101 		-
- 0.0001 -
145_SER PHE ClinVar
chr17:79478582 		rs2143779274
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
145_SER PHE ClinVar
chr1:229568317 		-
Likely pathogenic - Neuromuscular disease [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381]
145_SER TYR ClinVar
chr1:229568317 		-
Pathogenic/Likely pathogenic - Fetal akinesia deformation sequence|Fetal akinesia [MONDO:MONDO:0008824,MedGen:CN263240,OMIM:PS208150|]
146_GLY ALA ClinVar
chr7:5568277 		rs2128241303
Pathogenic/Likely pathogenic - Congenital smooth muscle hamartoma|CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435|]
146_GLY SER ClinVar
chr7:5568278 		rs2128241304
Pathogenic/Likely pathogenic - Congenital smooth muscle hamartoma|CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435|]
146_GLY ARG ClinVar
chr2:74136254 		rs2104815901
Likely pathogenic - Megacystis, microcolon, hypoperistalsis syndrome [MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241]
146_GLY VAL ClinVar
chr7:5568277 		-
Pathogenic - CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [-]
146_GLY ASP ClinVar
chr7:5568277 		-
Pathogenic - CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [-]
146_GLY VAL ClinVar
chr1:229568314 		-
Likely pathogenic - Centronuclear myopathy|Nemaline myopathy [MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595|MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607]
147_ARG CYS ClinVar
chr10:90701551 		rs121434526
Pathogenic - Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided|Aortic aneurysm, familial thoracic 2 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0011770,MedGen:C1846837,OMIM:607087]
147_ARG SER ClinVar
chr2:74136257 		rs587777383
Pathogenic - Visceral myopathy 1|Chronic intestinal pseudoobstruction [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]
147_ARG LEU ClinVar
chr2:74136258 		rs730880256
Pathogenic/Likely pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
147_ARG LEU ClinVar
chr10:90701550 		rs794728025
Pathogenic/Likely pathogenic - not provided|Aortic aneurysm, familial thoracic 6 [MedGen:C3661900|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
147_ARG CYS ClinVar
chr17:79478577 		rs2031775804
Likely pathogenic - Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
147_ARG HIS ClinVar
chr17:79478576 		rs2143779222
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
147_ARG CYS ClinVar
chr2:74136257 		rs587777383
Likely pathogenic - Intestinal obstruction [Human Phenotype Ontology:HP:0005214,Human Phenotype Ontology:HP:0005239,MONDO:MONDO:0004565,MedGen:C0021843]
147_ARG CYS ClinVar
chr7:5568275 		rs2128241302
Pathogenic - Baraitser-Winter syndrome 1|BECKER NEVUS, SOMATIC, MOSAIC|BECKER NEVUS SYNDROME, SOMATIC, MOSAIC|CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|||]
147_ARG SER ClinVar
chr7:5568275 		rs2128241302
Pathogenic/Likely pathogenic - Congenital smooth muscle hamartoma|BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC|CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435||]
147_ARG HIS gnomAD
chr2:131221077 		rs551881810
- 0.000482702 -
147_ARG HIS gnomAD
chr2:131414762 		rs200003563
- 0.000196114 -
147_ARG HIS gnomAD
chr2:132021568 		rs201044102
- 0.00191235 -
147_ARG CYS 8.3kJPN
chr2:130832506 		rs755247969
- 0.0001 -
147_ARG HIS 8.3kJPN
chr2:131221077 		rs551881810
- 0.0002 -
147_ARG HIS 8.3kJPN
chr2:131414762 		rs200003563
- 0.0001 -
148_THR SER ClinVar
chr1:229568308 		rs1553255479
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
148_THR SER ClinVar
chr1:229568309 		-
Likely pathogenic - Progressive scapulohumeroperoneal distal myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
149_THR ILE ClinVar
chr7:5568268 		rs587779775
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
149_THR SER gnomAD
chr2:131414767 		rs542082063
- 0.00146001 -
149_THR ALA gnomAD
chr2:132021573 		rs202144960
- 0.000338967 -
152_VAL LEU ClinVar
chr1:229568173 		rs768144106
Likely pathogenic - Congenital muscular dystrophy with rigid spine|Congenital myopathy 2b, severe infantile, autosomal recessive [MedGen:CN235626|MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265]
152_VAL ALA ClinVar
chr1:229568172 		rs1553255446
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
152_VAL LEU ClinVar
chr1:229568173 		rs768144106
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
152_VAL ILE 8.3kJPN
chr2:74140617 		rs762871917
- 0.0001 -
153_MET VAL ClinVar
chr17:79478559 		rs1555666789
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
153_MET ILE ClinVar
chr17:79478557 		rs2143779081
Likely pathogenic - Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
153_MET LEU 8.3kJPN
chr2:131414779 		-
- 0.0001 -
154_ASP ASN gnomAD
chr2:130832485 		rs540232366
- 0.000164582 -
155_SER PHE ClinVar
chr17:79478552 		rs281875326
Pathogenic - Baraitser-winter syndrome 2|not provided|Congenital anomaly of kidney and urinary tract|Inborn genetic diseases [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MedGen:CN517202|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MeSH:D030342,MedGen:C0950123]
155_SER CYS 8.3kJPN
chr2:132021592 		-
- 0.0001 -
158_GLY SER ClinVar
chr1:229568155 		rs1064794652
Pathogenic/Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
158_GLY ARG gnomAD
chr2:131414794 		rs771270515
- 0.000126748 -
159_VAL ALA ClinVar
chr7:5568238 		rs2128241291
Likely pathogenic - not provided [MedGen:C3661900]
160_THR ILE ClinVar
chr7:5568235 		rs1057518073
Likely pathogenic - not provided [MedGen:CN517202]
160_THR ALA ClinVar
chr7:5568236 		rs1784814961
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
161_HIS GLN ClinVar
chr1:229568144 		rs1571893383
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
162_THR ALA ClinVar
chr7:5568230 		rs2128241289
Pathogenic - not provided [MedGen:C3661900]
162_THR ALA 8.3kJPN
chr2:131221033 		-
- 0.0001 -
162_THR ALA 8.3kJPN
chr2:131414806 		rs1244046157
- 0.0001 -
163_VAL LEU ClinVar
chr1:229568140 		rs121909522
Pathogenic - Actin accumulation myopathy|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
163_VAL MET ClinVar
chr1:229568140 		rs121909522
Pathogenic - Actin accumulation myopathy|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MedGen:C3661900]
163_VAL LEU ClinVar
chr1:229568140 		rs121909522
Pathogenic - Progressive scapulohumeroperoneal distal myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
164_PRO HIS ClinVar
chr7:5568223 		rs1784814819
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
164_PRO THR 8.3kJPN
chr2:132021618 		-
- 0.0001 -
165_ILE MET ClinVar
chr7:5568219 		rs768401130
Likely pathogenic - not provided [MedGen:CN517202]
165_ILE VAL ClinVar
chr17:79478523 		rs2031770749
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
165_ILE MET gnomAD
chr2:132021623 		rs377356093
- 0.000120811 -
165_ILE VAL 8.3kJPN
chr2:131221024 		-
- 0.0001 -
167_GLU GLY ClinVar
chr1:229568127 		-
Likely pathogenic - not provided [MedGen:CN517202]
167_GLU ASP gnomAD
chr2:130832444 		rs2599794
- 0.607599 -
167_ASP GLU gnomAD
chr2:131221016 		rs1356135791
- 0.000130766 -
167_GLU ASP gnomAD
chr2:132021629 		rs7424029
- 0.00301359 -
167_GLU ASP 8.3kJPN
chr2:130832444 		rs2599794
- - -
167_GLU TER 8.3kJPN
chr2:130832446 		-
- 0.0001 -
167_ASP GLU 8.3kJPN
chr2:131414823 		rs1257604920
- 0.0004 -
167_GLU ASP 8.3kJPN
chr2:132021629 		rs7424029
- 0.2288 -
168_GLY ASP ClinVar
chr1:229568124 		rs2102735950
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
170_ALA GLU ClinVar
chr1:229568118 		rs587780272
Pathogenic - Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
170_ALA VAL gnomAD
chr2:131221008 		rs569318507
- 0.000400374 -
170_ALA VAL gnomAD
chr5:56778023 		rs763832753
- 0.000302878 -
170_ALA SER 8.3kJPN
chr2:131414830 		-
- 0.0001 -
171_LEU PHE ClinVar
chr7:5568203 		-
Likely pathogenic - Baraitser-Winter syndrome 1|Thrombocytopenia 8, with dysmorphic features and developmental delay [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:CN372714,OMIM:620475]
172_PRO LEU ClinVar
chr1:229568112 		rs1057519311
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
173_HIS ASN gnomAD
chr2:130832428 		rs368978604
- 0.000161427 -
173_HIS ARG 8.3kJPN
chr5:56778014 		rs771324969
- 0.0001 -
174_ALA SER gnomAD
chr2:131414842 		rs531039180
- 0.0014263 -
175_ILE VAL ClinVar
chr1:229568104 		rs1558081804
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
176_LEU PRO ClinVar
chr7:5568187 		rs1554329331
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
177_ARG HIS ClinVar
chr10:90701066 		rs387906592
Pathogenic - Multisystemic smooth muscle dysfunction syndrome|Moyamoya disease 5|Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided|alterations of great arteries and veins [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463|MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MedGen:CN239849]; Connective tissue disorder|Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]; Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]; Moyamoya disease 5 [MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573]
177_ARG LEU ClinVar
chr2:74140693 		rs587777384
Pathogenic - Visceral myopathy 1|Inborn genetic diseases|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5|not provided [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431|MedGen:CN517202]
177_ARG CYS ClinVar
chr2:74140692 		rs78001248
Pathogenic - Visceral myopathy 1|not provided|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MedGen:C3661900|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
177_ARG HIS ClinVar
chr2:74140693 		rs587777384
Pathogenic - Visceral myopathy 1|Inborn genetic diseases|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5|not provided [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431|MedGen:CN517202]
177_ARG LEU ClinVar
chr1:229568097 		rs727503797
Likely pathogenic - not provided [MedGen:CN517202]
177_ARG CYS ClinVar
chr10:90701067 		rs886039303
Pathogenic - not provided|Familial aortopathy|Aortic aneurysm, familial thoracic 6|Multisystemic smooth muscle dysfunction syndrome [MedGen:C3661900|MedGen:CN078214|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]
177_ARG SER ClinVar
chr10:90701067 		rs886039303
Pathogenic - Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]
177_ARG LEU ClinVar
chr10:90701066 		rs387906592
Pathogenic - Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]
177_ARG HIS ClinVar
chr1:229568097 		-
Likely pathogenic - ACTA1-related condition [-]
177_ARG SER ClinVar
chr2:74140692 		-
Pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
177_ARG HIS gnomAD
chr2:131220987 		rs529516175
- 0.000631192 -
177_ARG CYS gnomAD
chr2:131220988 		rs551179676
- 0.000246305 -
177_ARG CYS gnomAD
chr2:131414851 		rs546363432
- 0.000704257 -
177_ARG HIS gnomAD
chr2:131414852 		rs759119194
- 0.000160075 -
177_ARG HIS 8.3kJPN
chr2:131220987 		rs529516175
- 0.0004 -
177_ARG CYS 8.3kJPN
chr2:131220988 		rs551179676
- 0.0001 -
177_ARG CYS 8.3kJPN
chr2:131414851 		rs546363432
- 0.0002 -
177_ARG HIS 8.3kJPN
chr2:131414852 		rs759119194
- 0.0004 -
177_ARG CYS 8.3kJPN
chr2:132021657 		rs754774291
- 0.0001 -
177_ARG HIS 8.3kJPN
chr2:132021658 		rs767885982
- 0.0001 -
179_ASP HIS ClinVar
chr1:229568092 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
179_ASP HIS 8.3kJPN
chr2:131220982 		-
- 0.0001 -
179_ASP HIS 8.3kJPN
chr2:131414857 		rs766870292
- 0.0001 -
179_ASP GLU 8.3kJPN
chr5:56777995 		-
- 0.0001 -
182_GLY ASP ClinVar
chr1:229568082 		-
Pathogenic - not provided [MedGen:CN517202]
183_ARG TRP ClinVar
chr7:5568167 		rs104894003
Pathogenic - Developmental malformations-deafness-dystonia syndrome|Baraitser-Winter syndrome 1|Inborn genetic diseases|not provided|ACTB-related BAFopathy [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|]
183_ARG TRP ClinVar
chr15:35084672 		rs397517065
Likely pathogenic - Primary dilated cardiomyopathy|Inborn genetic diseases [EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MeSH:D030342,MedGen:C0950123]
183_ARG SER ClinVar
chr1:229568080 		rs1064794287
Pathogenic/Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
183_ARG CYS ClinVar
chr1:229568080 		rs1064794287
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
183_ARG TRP ClinVar
chr17:79478469 		rs1362994447
Likely pathogenic - not provided|Autosomal dominant nonsyndromic hearing loss 20 [MedGen:C3661900|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
183_ARG GLY ClinVar
chr7:5568167 		rs104894003
Likely pathogenic - ACTB-related disorders [-]
183_ARG TRP gnomAD
chr2:132021675 		rs757786218
- 0.000136692 -
184_ASP GLY ClinVar
chr1:229568076 		rs1571893319
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
184_ASP ASN ClinVar
chr1:229568077 		rs2102735904
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
184_ASP HIS ClinVar
chr1:229568077 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
184_ASP ASN 8.3kJPN
chr5:56777982 		rs527573101
- 0.0002 -
185_LEU PRO 8.3kJPN
chr2:132021682 		-
- 0.0001 -
186_PRO THR gnomAD
chr2:130832389 		rs199761904
- 0.0401203 -
186_THR PRO gnomAD
chr2:131414878 		rs201354416
- 0.0798432 -
186_PRO THR gnomAD
chr2:132021684 		rs2672150
- 0.00331467 -
186_PRO THR 8.3kJPN
chr2:130832389 		rs199761904
- 0.0043 -
186_THR PRO 8.3kJPN
chr2:131220961 		rs62163561
- 0.0018 -
186_THR PRO 8.3kJPN
chr2:131414878 		rs201354416
- 0.2745 -
186_PRO THR 8.3kJPN
chr2:132021684 		rs2672150
- 0.0005 -
187_ASP GLU gnomAD
chr2:130832384 		rs201255735
- 0.00737818 -
187_ASP ASN gnomAD
chr2:131220958 		rs746554335
- 0.000481472 -
189_LEU PHE gnomAD
chr2:132021693 		rs569980375
- 0.000164445 -
190_MET VAL gnomAD
chr2:132021696 		rs374662832
- 0.000569636 -
190_MET ARG 8.3kJPN
chr5:56777963 		-
- 0.0002 -
192_ILE ASN ClinVar
chr15:35084644 		-
Likely pathogenic - Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]
192_ILE VAL gnomAD
chr2:132021702 		rs202129718
- 0.00797614 -
192_ILE VAL 8.3kJPN
chr2:130832371 		rs760765828
- 0.0001 -
192_ILE PHE 8.3kJPN
chr2:131414896 		rs547084134
- 0.0001 -
194_THR PRO ClinVar
chr1:229568047 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
194_THR ILE gnomAD
chr2:130832364 		rs185469611
- 0.0110298 -
195_GLU ASP ClinVar
chr1:229568042 		rs869312739
Pathogenic - Progressive scapulohumeroperoneal distal myopathy|not provided|Actin accumulation myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977|MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
195_GLU ASP ClinVar
chr2:74140748 		rs140943831
Likely pathogenic - not provided [MedGen:CN517202]
195_GLU LYS ClinVar
chr7:5568131 		rs1784813193
Likely pathogenic - not provided [MedGen:C3661900]
195_GLU ASP ClinVar
chr2:74140748 		rs140943831
Likely pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
195_GLU LYS gnomAD
chr2:131414905 		rs530033416
- 0.000181449 -
196_ARG HIS ClinVar
chr7:5568127 		rs281875334
Pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900]
196_ARG CYS ClinVar
chr7:5568128 		rs281875333
Pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900]
196_ARG SER ClinVar
chr7:5568128 		rs281875333
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
196_ARG HIS ClinVar
chr10:90701009 		rs746972765
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900]
196_ARG HIS ClinVar
chr1:229568040 		-
Pathogenic - Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
196_ARG CYS ClinVar
chr1:229568041 		rs1659962016
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
196_ARG LEU ClinVar
chr7:5568127 		rs281875334
Likely pathogenic - ACTB-related BAFopathy|Aminoacylase 1 deficiency [|MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754]
196_ARG GLY ClinVar
chr7:5568128 		rs281875333
Pathogenic - not provided [MedGen:C3661900]
196_ARG THR ClinVar
chr2:74140750 		rs2104821169
Likely pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
196_HIS ARG gnomAD
chr2:130832358 		rs2599793
- 0.392138 -
196_ARG HIS gnomAD
chr2:131414909 		rs548530110
- 0.000371448 -
196_ARG GLN gnomAD
chr5:56777945 		rs149395843
- 0.000712983 -
196_HIS ARG 8.3kJPN
chr2:130832358 		rs2599793
- 0.5573 -
196_ARG HIS 8.3kJPN
chr2:131414909 		rs548530110
- 0.0002 -
196_ARG HIS 8.3kJPN
chr2:132021715 		rs780394961
- 0.001 -
197_GLY ASP ClinVar
chr2:74140753 		rs864309492
Pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
197_GLY SER ClinVar
chr7:5568125 		rs1554329317
Pathogenic/Likely pathogenic - Inborn genetic diseases|Baraitser-Winter syndrome 1|not provided [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900]
197_GLY VAL ClinVar
chr2:74140753 		-
Likely pathogenic - Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
197_GLY ASP 8.3kJPN
chr2:131220927 		rs1349939724
- 0.0002 -
197_GLY ALA 8.3kJPN
chr2:132021718 		-
- 0.0001 -
198_TYR ASN ClinVar
chr1:229568035 		rs1553255432
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
198_TYR CYS ClinVar
chr1:229568034 		rs2102735854
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
199_SER ARG ClinVar
chr7:5568117 		rs886041266
Likely pathogenic - not provided [MedGen:CN517202]
200_PHE ILE ClinVar
chr17:79478418 		rs587780275
Likely pathogenic - Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
200_PHE VAL ClinVar
chr7:5568116 		rs2128241275
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
201_THR ILE ClinVar
chr7:5568112 		-
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
201_VAL ILE 8.3kJPN
chr10:90700995 		rs397516684
- 0.0001 -
202_THR ILE ClinVar
chr1:229568022 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
202_THR PRO 8.3kJPN
chr2:131414926 		-
- 0.0001 -
203_THR LYS ClinVar
chr17:79478408 		rs281875327
Pathogenic - Baraitser-winter syndrome 2|not provided [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MedGen:CN517202]
203_THR MET ClinVar
chr17:79478408 		rs281875327
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20|Baraitser-Winter syndrome [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995]
203_MET VAL 8.3kJPN
chr2:131414929 		rs569948094
- 0.0002 -
204_ALA GLY ClinVar
chr7:5568103 		rs587779776
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
204_ALA THR ClinVar
chr2:74140773 		rs1057516046
Pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
204_ALA THR ClinVar
chr1:229568017 		rs1057521119
Pathogenic/Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
204_ALA GLY ClinVar
chr17:79478405 		rs11549225
Likely pathogenic - not provided|Baraitser-winter syndrome 2 [MedGen:CN517202|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
204_ALA VAL ClinVar
chr1:229567932 		rs1571893145
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
205_GLU VAL ClinVar
chr1:229567929 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
205_GLU LYS gnomAD
chr2:132021741 		rs200315167
- 0.00632675 -
206_ARG GLN ClinVar
chr7:5568097 		rs886039472
Pathogenic/Likely pathogenic - not provided|Baraitser-Winter syndrome 1|Inborn genetic diseases|See cases [MedGen:C3661900|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MeSH:D030342,MedGen:C0950123|]
206_ARG GLY ClinVar
chr7:5568098 		rs1057518071
Likely pathogenic - not provided [MedGen:CN517202]
206_ARG GLN ClinVar
chr17:79478399 		rs1555666715
Likely pathogenic - Rare genetic deafness|Baraitser-winter syndrome 2|Baraitser-winter syndrome 2 [MedGen:C5680250,Orphanet:96210|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
206_ARG TRP ClinVar
chr7:5568098 		rs1057518071
Pathogenic - Baraitser-Winter syndrome 1|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900]
206_ARG GLN gnomAD
chr2:130832328 		rs759625747
- 0.000199511 -
206_ARG GLN gnomAD
chr2:131220900 		rs564547553
- 0.000500679 -
206_ARG TRP gnomAD
chr2:131220901 		rs1419461472
- 0.000142248 -
206_ARG TRP gnomAD
chr2:132021744 		rs577200385
- 0.000100946 -
206_ARG GLN gnomAD
chr5:56777915 		rs146468598
- 0.00203529 -
206_ARG TRP gnomAD
chr5:56777916 		rs139155991
- 0.000716943 -
206_ARG GLN 8.3kJPN
chr2:131220900 		rs564547553
- 0.0003 -
206_ARG TRP 8.3kJPN
chr2:131220901 		rs1419461472
- 0.0002 -
206_ARG TRP 8.3kJPN
chr2:132021744 		rs577200385
- 0.0009 -
206_ARG HIS 8.3kJPN
chr15:35084476 		rs142839840
- 0.0001 -
207_GLU LYS gnomAD
chr2:132021747 		rs369294973
- 0.000237995 -
207_GLU GLY 8.3kJPN
chr5:56777912 		rs137915627
- 0.0007 -
209_VAL MET ClinVar
chr7:5568089 		rs587779777
Pathogenic/Likely pathogenic - Baraitser-Winter syndrome 1|not provided|ACTB-related BAFopathy|Inborn genetic diseases [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995|MedGen:C3661900||MeSH:D030342,MedGen:C0950123]
209_VAL LEU ClinVar
chr7:5568089 		rs587779777
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
209_VAL MET gnomAD
chr2:131414947 		rs202097988
- 0.0011313 -
209_VAL MET 8.3kJPN
chr2:131414947 		rs202097988
- 0.0002 -
210_ARG GLN ClinVar
chr10:90699437 		rs397516685
Pathogenic/Likely pathogenic - Familial thoracic aortic aneurysm and aortic dissection|not provided|Aortic aneurysm, familial thoracic 6|ACTA2-Related Disorders|Isolated thoracic aortic aneurysm [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788||]
210_ARG HIS ClinVar
chr7:5568085 		rs1064793444
Pathogenic/Likely pathogenic - not provided|ACTB-related BAFopathy|Baraitser-Winter syndrome 1 [MedGen:CN517202||MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
210_ARG CYS ClinVar
chr7:5568086 		rs1584261979
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
210_ARG CYS ClinVar
chr17:79478388 		rs2031759596
Pathogenic - Microcephaly|Baraitser-winter syndrome 2 [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
210_ARG LEU ClinVar
chr2:74141825 		-
Pathogenic - Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
210_ARG CYS gnomAD
chr2:130832317 		rs748161177
- 0.000137662 -
210_ARG HIS gnomAD
chr2:131220888 		rs756572758
- 0.000226689 -
210_ARG HIS gnomAD
chr2:131414951 		rs200010374
- 0.00607696 -
210_ARG HIS 8.3kJPN
chr2:130832316 		rs550374458
- 0.0002 -
210_ARG HIS 8.3kJPN
chr2:131220888 		rs756572758
- 0.0002 -
210_ARG HIS 8.3kJPN
chr2:131414951 		rs200010374
- 0.0002 -
211_ASP TYR 8.3kJPN
chr2:131414953 		-
- 0.0001 -
213_LYS GLN ClinVar
chr17:79478379 		rs1057524703
Likely pathogenic - not provided [MedGen:CN517202]
214_GLU ASP ClinVar
chr10:90699424 		-
Pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
214_GLU LYS ClinVar
chr1:229567903 		-
Likely pathogenic - not provided [MedGen:C3661900]
214_GLU LYS gnomAD
chr2:131414962 		rs745596739
- 0.000131873 -
214_GLU GLN gnomAD
chr5:56777892 		rs534551351
- 0.000549639 -
217_CYS ARG ClinVar
chr10:90699417 		-
Pathogenic - Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
217_CYS TYR 8.3kJPN
chr2:132021778 		rs768302084
- 0.0001 -
218_TYR TER ClinVar
chr1:229567889 		rs201823652
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
218_TYR PHE gnomAD
chr2:131220864 		rs77172375
- 0.380035 -
218_TYR PHE gnomAD
chr2:131414975 		rs4850168
- 0.000716492 -
218_TYR PHE gnomAD
chr2:132021781 		rs553548999
- 0.000176646 -
218_TYR PHE 8.3kJPN
chr2:130832292 		rs62165871
- 0.4225 -
218_TYR PHE 8.3kJPN
chr2:131220864 		rs77172375
- 0.9769 -
218_TYR PHE 8.3kJPN
chr2:131414975 		rs4850168
- 0.2864 -
218_TYR PHE 8.3kJPN
chr2:132021781 		rs553548999
- 0.0005 -
219_VAL ILE gnomAD
chr2:131220862 		rs781598956
- 0.00121139 -
220_ALA THR gnomAD
chr2:130832287 		rs753144687
- 0.000255042 -
220_ALA THR 8.3kJPN
chr2:130832287 		rs753144687
- 0.0001 -
222_ASP HIS gnomAD
chr2:130832281 		rs368461233
- 0.000440956 -
222_ASP HIS gnomAD
chr2:131220853 		rs1319703615
- 0.000266525 -
222_ASP ALA 8.3kJPN
chr2:131414987 		-
- 0.0001 -
224_GLU GLN ClinVar
chr1:229567873 		rs1057521118
Pathogenic/Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
225_GLN GLU 8.3kJPN
chr2:130832272 		-
- 0.0005 -
226_GLU GLN ClinVar
chr1:229567867 		rs1558081664
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
226_GLU TER ClinVar
chr1:229567867 		rs1558081664
Pathogenic - Congenital myopathy with fiber type disproportion|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
226_GLU GLN 8.3kJPN
chr2:131220841 		-
- 0.0001 -
226_GLU VAL 8.3kJPN
chr2:131414999 		-
- 0.0001 -
227_MET LEU ClinVar
chr1:229567864 		rs794727714
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
227_MET THR ClinVar
chr1:229567863 		-
Pathogenic - ACTA1-related condition [-]
229_MET ILE gnomAD
chr2:131220830 		rs574350751
- 0.005 -
229_MET ILE gnomAD
chr2:131220830 		rs574350751
- 0.00133333 -
229_MET THR gnomAD
chr2:131220831 		rs2599792
- 0.0180965 -
229_MET THR gnomAD
chr2:131415008 		rs62165279
- 0.000217035 -
229_THR MET 8.3kJPN
chr2:130832259 		rs1313492550
- 0.0001 -
229_MET ILE 8.3kJPN
chr2:131220830 		rs574350751
- 0.0022 -
229_MET THR 8.3kJPN
chr2:131220831 		rs2599792
- 0.9739 -
229_MET LEU 8.3kJPN
chr2:131220832 		-
- 0.0002 -
229_MET VAL 8.3kJPN
chr2:131415007 		rs766613702
- 0.0001 -
229_MET THR 8.3kJPN
chr2:131415008 		rs62165279
- 0.1846 -
229_THR MET 8.3kJPN
chr2:132021814 		rs1335497622
- 0.0041 -
230_VAL ALA gnomAD
chr2:130832256 		rs376938834
- 0.116389 -
230_ALA VAL gnomAD
chr2:131220828 		rs4850169
- 0.00399734 -
230_ALA THR gnomAD
chr2:131220829 		rs552890000
- 0.005 -
230_ALA THR gnomAD
chr2:132021816 		rs576267419
- 0.0014342 -
230_VAL ALA 8.3kJPN
chr2:130832256 		rs376938834
- 0.4886 -
230_ALA VAL 8.3kJPN
chr2:131220828 		rs4850169
- 0.9623 -
230_ALA VAL 8.3kJPN
chr2:132021817 		rs1352115051
- 0.0007 -
233_SER TYR ClinVar
chr1:229567845 		rs2102735630
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
233_SER THR 8.3kJPN
chr2:130832247 		rs1290431395
- 0.0001 -
233_SER THR 8.3kJPN
chr2:132021826 		rs758028412
- 0.0001 -
236_LEU VAL 8.3kJPN
chr2:131415028 		rs1193997837
- 0.0001 -
237_GLU GLN ClinVar
chr15:35084384 		rs1555418785
Likely pathogenic - not provided [MedGen:CN517202]
238_LYS ARG gnomAD
chr2:130832232 		rs200428206
- 0.00056809 -
238_LYS ARG gnomAD
chr2:131220804 		rs570148649
- 0.000626566 -
239_SER ARG ClinVar
chr1:229567826 		-
Likely pathogenic - Neuromuscular disease [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381]
241_GLU LYS ClinVar
chr17:79478295 		rs267606631
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20|not provided|Rare genetic deafness|Hearing impairment [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MedGen:C3661900|MedGen:C5680250,Orphanet:96210|Human Phenotype Ontology:HP:0000365,Human Phenotype Ontology:HP:0000404,Human Phenotype Ontology:HP:0001728,Human Phenotype Ontology:HP:0001729,Human Phenotype Ontology:HP:0001754,Human Phenotype Ontology:HP:0008560,Human Phenotype Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666]
241_GLU ASP 8.3kJPN
chr2:132021851 		rs761160312
- 0.0001 -
243_PRO LEU ClinVar
chr17:79478288 		rs1598548256
Likely pathogenic - Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
244_ASP ASN 8.3kJPN
chr2:131220787 		rs760161629
- 0.0001 -
244_ASP ASN 8.3kJPN
chr2:131415052 		rs765064482
- 0.0001 -
245_GLY ARG ClinVar
chr1:229567810 		rs1057521117
Pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]; ACTA1 gene related myopathy|Actin accumulation myopathy [|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
245_GLY ASP ClinVar
chr15:35084359 		rs1566967399
Pathogenic/Likely pathogenic - Cardiomyopathy|Atrial septal defect 5 [Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11|Cardiovascular phenotype [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MedGen:CN230736]
245_GLY ARG ClinVar
chr1:229567810 		rs1057521117
Pathogenic - Fetal akinesia deformation sequence 1 [Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994]; Arthrogryposis multiplex congenita|Actin accumulation myopathy [Human Phenotype Ontology:HP:0001389,Human Phenotype Ontology:HP:0001390,Human Phenotype Ontology:HP:0002759,Human Phenotype Ontology:HP:0002804,Human Phenotype Ontology:HP:0005188,Human Phenotype Ontology:HP:0005663,Human Phenotype Ontology:HP:0005809,Human Phenotype Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
247_VAL ILE 8.3kJPN
chr1:229567804 		rs149762697
- 0.0002 -
248_ILE LEU 8.3kJPN
chr2:130832203 		-
- 0.0001 -
248_ILE LEU 8.3kJPN
chr2:131220775 		-
- 0.0002 -
248_ILE LEU 8.3kJPN
chr2:131415064 		-
- 0.0001 -
251_GLY ASP ClinVar
chr1:229567791 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
251_GLY SER 8.3kJPN
chr2:130832194 		rs781580394
- 0.0001 -
251_SER GLY 8.3kJPN
chr2:131415073 		rs756689031
- 0.0163 -
252_ASN LYS ClinVar
chr1:229567787 		rs1571892988
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
253_GLU GLY gnomAD
chr2:131220759 		rs758587801
- 0.000187131 -
253_GLU LYS 8.3kJPN
chr2:130832188 		rs752060293
- 0.0002 -
253_GLU LYS 8.3kJPN
chr2:131415079 		rs564658802
- 0.0001 -
253_GLU LYS 8.3kJPN
chr2:132021885 		rs775910106
- 0.0003 -
254_ARG TRP ClinVar
chr17:79478256 		rs281875328
Pathogenic/Likely pathogenic - Baraitser-winter syndrome 2|not provided|Lissencephaly|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MedGen:C3661900|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
254_ARG CYS ClinVar
chr1:229567783 		rs1558081624
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
254_ARG HIS ClinVar
chr1:229567782 		rs1659954003
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
254_ARG SER ClinVar
chr10:90699306 		rs886038852
Likely pathogenic - not provided [MedGen:C3661900]
254_ARG GLY ClinVar
chr1:229567783 		-
Likely pathogenic - Congenital myopathy|Primary dilated cardiomyopathy [MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604]
254_ARG TRP gnomAD
chr2:130832185 		rs62165870
- 0.0986423 -
254_ARG GLY gnomAD
chr2:130832185 		rs62165870
- 0.000158334 -
254_TRP CYS gnomAD
chr2:131220755 		rs750648677
- 0.000234632 -
254_TRP ARG gnomAD
chr2:131220757 		rs1180587103
- 0.00157757 -
254_TRP ARG gnomAD
chr2:131415082 		rs200286757
- 0.00423049 -
254_ARG TRP gnomAD
chr2:132021888 		rs761248193
- 0.000646933 -
254_ARG GLN gnomAD
chr2:132021889 		rs375656111
- 0.00318996 -
254_ARG CYS gnomAD
chr5:56777772 		rs183478178
- 0.000171357 -
254_ARG TRP 8.3kJPN
chr2:130832185 		rs62165870
- 0.4196 -
254_TRP CYS 8.3kJPN
chr2:131220755 		-
- 0.0001 -
254_TRP ARG 8.3kJPN
chr2:131220757 		rs1180587103
- 0.0039 -
254_TRP ARG 8.3kJPN
chr2:131415082 		rs200286757
- 0.0001 -
254_ARG TRP 8.3kJPN
chr2:132021888 		rs761248193
- 0.0029 -
254_ARG CYS 8.3kJPN
chr5:56777772 		rs183478178
- 0.0002 -
256_ARG HIS ClinVar
chr10:90699299 		rs121434527
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6|Moyamoya disease 5|not provided|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
256_ARG CYS ClinVar
chr10:90699300 		rs121434528
Pathogenic - Aortic aneurysm, familial thoracic 6|Moyamoya disease 5|not provided|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
256_ARG TRP ClinVar
chr17:79478250 		rs281875329
Pathogenic - Baraitser-winter syndrome 2|not provided|Autosomal dominant nonsyndromic hearing loss 20|Lissencephaly [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MedGen:CN517202|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
256_ARG CYS ClinVar
chr2:74141962 		rs587777387
Pathogenic - Visceral myopathy 1|Chronic intestinal pseudoobstruction [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]; Megacystis|Inborn genetic diseases|not provided|Chronic intestinal pseudoobstruction|Visceral neuropathy, familial, 3, autosomal dominant|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5|Visceral myopathy 1 [Human Phenotype Ontology:HP:0000021,Human Phenotype Ontology:HP:0002838,MedGen:C1855311|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978|MONDO:MONDO:0012317,MedGen:C1864996,OMIM:609629,Orphanet:2978|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431|MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
256_ARG HIS ClinVar
chr2:74141963 		rs797044959
Pathogenic - Inborn genetic diseases|Megacystis [MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0000021,Human Phenotype Ontology:HP:0002838,MedGen:C1855311]; Chronic intestinal pseudoobstruction|Visceral myopathy 1|not provided|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978|MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604|MedGen:C3661900|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
256_ARG HIS ClinVar
chr1:229567776 		rs1659953887
Pathogenic - not provided [MedGen:C3661900]
256_ARG GLY ClinVar
chr1:229567777 		-
Likely pathogenic - Nemaline myopathy|Congenital myopathy [MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607|MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245]
256_ARG CYS gnomAD
chr2:131415088 		rs541088594
- 0.000148009 -
256_ARG CYS 8.3kJPN
chr2:130832179 		rs764045936
- 0.0001 -
256_ARG HIS 8.3kJPN
chr2:131220750 		rs1257613561
- 0.0002 -
256_ARG CYS 8.3kJPN
chr2:131220751 		rs765608903
- 0.0003 -
256_ARG CYS 8.3kJPN
chr2:131415088 		rs541088594
- 0.0001 -
256_ARG CYS 8.3kJPN
chr2:132021894 		rs751194049
- 0.0001 -
257_CYS TYR 8.3kJPN
chr5:56777762 		-
- 0.0001 -
258_PRO LEU ClinVar
chr7:5567941 		rs1554329281
Likely pathogenic - not provided|Inborn genetic diseases [MedGen:CN517202|MeSH:D030342,MedGen:C0950123]
259_GLU VAL ClinVar
chr1:229567767 		rs121909523
Pathogenic/Likely pathogenic - Actin accumulation myopathy|ACTA1-related myopathies|not provided|Congenital myopathy 2b, severe infantile, autosomal recessive|Congenital myopathy with fiber type disproportion [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904||MedGen:C3661900|MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020]; Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]; Progressive scapulohumeroperoneal distal myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
259_GLU GLN gnomAD
chr2:130832170 		rs201256864
- 0.000281891 -
259_GLU LYS gnomAD
chr2:130832170 		rs201256864
- 0.0139462 -
259_GLU GLN gnomAD
chr2:131220742 		rs200829486
- 0.00929887 -
259_GLU LYS gnomAD
chr2:131415097 		rs767608321
- 0.000144358 -
259_GLU LYS gnomAD
chr2:132021903 		rs756053566
- 0.00516108 -
259_GLU LYS 8.3kJPN
chr2:132021903 		rs756053566
- 0.0001 -
260_ALA GLU ClinVar
chr7:5567935 		rs1784808970
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
260_ALA VAL gnomAD
chr2:131220738 		rs774943606
- 0.000257794 -
260_ALA VAL gnomAD
chr2:131415101 		rs559415455
- 0.000185852 -
260_ALA VAL gnomAD
chr2:132021907 		rs1362336739
- 0.000121977 -
260_ALA VAL 8.3kJPN
chr2:131220738 		rs774943606
- 0.0001 -
260_ALA VAL 8.3kJPN
chr2:132021907 		rs1362336739
- 0.0001 -
261_LEU PHE 8.3kJPN
chr2:131415103 		-
- 0.0001 -
262_PHE LEU 8.3kJPN
chr17:79478230 		-
- 0.0001 -
263_GLN ARG ClinVar
chr1:229567755 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
264_PRO LEU ClinVar
chr17:79478225 		rs104894546
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20|not provided [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MedGen:CN517202]
264_PRO SER 8.3kJPN
chr2:74141986 		-
- 0.0001 -
266_PHE SER ClinVar
chr1:229567746 		rs1558081605
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
268_GLY CYS ClinVar
chr1:229567741 		rs121909525
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
268_GLY ARG ClinVar
chr1:229567741 		rs121909525
Pathogenic - Neuromuscular disease|Actin accumulation myopathy [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
268_GLY ARG ClinVar
chr7:5567912 		rs1554329269
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
268_GLY ASP ClinVar
chr1:229567649 		rs1553255362
Pathogenic/Likely pathogenic - Nemaline myopathy 3, autosomal dominant or recessive|not provided|Neurodevelopmental delay [MedGen:CN187050|MedGen:C3661900|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
268_GLY CYS ClinVar
chr7:5567912 		rs1554329269
Likely pathogenic - ACTB-related disorders [-]
268_GLY SER ClinVar
chr1:229567741 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
269_MET ARG ClinVar
chr1:229567646 		rs1553255360
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
269_MET VAL ClinVar
chr15:35083494 		rs2140429730
Pathogenic - not provided [MedGen:C3661900]
271_SER PHE 8.3kJPN
chr2:130832133 		-
- 0.0005 -
271_SER PHE 8.3kJPN
chr2:132021940 		-
- 0.0005 -
272_ALA VAL ClinVar
chr1:229567637 		rs1553255357
Pathogenic - not provided|Actin accumulation myopathy|Progressive scapulohumeroperoneal distal myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
272_ALA GLU ClinVar
chr1:229567637 		rs1553255357
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
273_GLY ASP gnomAD
chr2:130832127 		rs200243409
- 0.476053 -
273_GLY ASP 8.3kJPN
chr2:130832127 		rs200243409
- 0.4535 -
273_GLY ASP 8.3kJPN
chr2:131220699 		rs199773105
- 0.0016 -
273_GLY ASP 8.3kJPN
chr2:132021946 		rs62178369
- 0.318 -
275_HIS LEU ClinVar
chr17:79478113 		rs2143775813
Likely pathogenic - not provided [MedGen:C3661900]
275_HIS GLN gnomAD
chr2:132021953 		rs1401664443
- 0.000190371 -
275_HIS TYR 8.3kJPN
chr2:130832122 		-
- 0.0001 -
275_HIS TYR 8.3kJPN
chr2:131220694 		rs1440485176
- 0.0002 -
276_GLU LYS ClinVar
chr7:5567793 		rs1554329216
Pathogenic/Likely pathogenic - not provided|Baraitser-Winter syndrome 1 [MedGen:CN517202|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
276_GLU LYS ClinVar
chr17:79478111 		rs2143775790
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
276_GLU ASP ClinVar
chr1:229567624 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
276_GLU ASP gnomAD
chr2:132021956 		rs569942842
- 0.0094699 -
276_GLU LYS gnomAD
chr5:56777706 		rs142178628
- 0.000808907 -
277_THR ILE ClinVar
chr17:79478107 		rs2143775764
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
278_THR ILE ClinVar
chr17:79478104 		rs28999112
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
279_TYR CYS ClinVar
chr1:229567616 		rs1659944113
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
279_TYR HIS ClinVar
chr1:229567617 		rs2102735278
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
280_ASN LYS ClinVar
chr1:229567612 		rs2102735270
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
280_ASN HIS ClinVar
chr1:229567614 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
282_ILE THR 8.3kJPN
chr2:130832100 		rs1158409505
- 0.0072 -
282_ILE THR 8.3kJPN
chr2:132021973 		rs1480716800
- 0.0017 -
283_MET VAL ClinVar
chr17:79478090 		rs1555666509
Likely pathogenic - not provided [MedGen:CN517202]
283_MET THR ClinVar
chr17:79478089 		rs2143775617
Likely pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
283_MET ARG ClinVar
chr1:229567604 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
283_MET VAL gnomAD
chr2:132021975 		rs1445722323
- 0.000213614 -
283_MET VAL 8.3kJPN
chr2:132021975 		rs1445722323
- 0.0005 -
286_ASP GLY ClinVar
chr1:229567595 		-
Pathogenic - Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
286_ASP TYR gnomAD
chr5:56777676 		rs191631227
- 0.000195171 -
286_ASP GLY 8.3kJPN
chr2:131220660 		-
- 0.0001 -
286_ASP TYR 8.3kJPN
chr5:56777676 		rs191631227
- 0.0016 -
287_ILE THR ClinVar
chr15:35083439 		rs727504379
Likely pathogenic - Primary dilated cardiomyopathy|not provided [EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN517202]
288_ASP GLY ClinVar
chr17:79478074 		rs886041756
Likely pathogenic - not provided [MedGen:CN517202]
288_ASP HIS ClinVar
chr1:229567590 		rs1553255354
Pathogenic - Inborn genetic diseases|Actin accumulation myopathy [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
288_ASP ASN ClinVar
chr1:229567590 		-
Pathogenic - Nemaline myopathy [MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607]
288_ASP VAL gnomAD
chr2:132021991 		rs552633031
- 0.000125768 -
290_ARG CYS ClinVar
chr7:5567751 		rs1057517888
Likely pathogenic - not provided [MedGen:CN517202]
290_ARG CYS gnomAD
chr2:130832077 		rs1331656730
- 0.00165533 -
290_ARG HIS gnomAD
chr2:131220648 		rs1403407431
- 0.000374392 -
290_ARG HIS gnomAD
chr2:131415191 		rs760892111
- 0.000263949 -
290_ARG HIS 8.3kJPN
chr2:130832076 		rs1395920641
- 0.0001 -
290_ARG CYS 8.3kJPN
chr2:131415190 		rs775579011
- 0.0001 -
290_ARG HIS 8.3kJPN
chr2:131415191 		rs760892111
- - -
290_ARG CYS 8.3kJPN
chr2:132021996 		rs746080412
- 0.0001 -
292_ASP VAL ClinVar
chr1:229567577 		rs121909529
Pathogenic - Congenital myopathy with fiber type disproportion|Actin accumulation myopathy|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
292_ASP GLU gnomAD
chr2:132022004 		rs1205858676
- 0.000270309 -
292_ASP TYR 8.3kJPN
chr5:56777658 		rs772032526
- 0.0005 -
293_LEU ARG 8.3kJPN
chr5:56777654 		rs548697022
- 0.0004 -
294_TYR CYS 8.3kJPN
chr2:131415203 		rs1452018722
- 0.0001 -
295_ALA SER ClinVar
chr15:35083416 		rs121912675
Pathogenic - Hypertrophic cardiomyopathy 11|Atrial septal defect 5 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
295_ALA THR ClinVar
chr1:229567569 		-
Pathogenic - Myopathy [Human Phenotype Ontology:HP:0003198,Human Phenotype Ontology:HP:0003569,Human Phenotype Ontology:HP:0003705,Human Phenotype Ontology:HP:0003742,Human Phenotype Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848]
296_ASN LYS ClinVar
chr7:5567731 		rs769182426
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
298_VAL LEU gnomAD
chr2:131415214 		rs548197110
- 0.00052849 -
298_VAL MET 8.3kJPN
chr2:132022020 		-
- 0.0001 -
298_VAL GLU 8.3kJPN
chr2:132022021 		rs1410274773
- 0.0003 -
302_GLY ALA ClinVar
chr7:5567714 		-
Pathogenic - not provided [MedGen:CN517202]
302_GLY ASP gnomAD
chr2:131220612 		rs1263685725
- 0.000641849 -
302_GLY ASP 8.3kJPN
chr2:130832040 		rs1329985221
- 0.0001 -
302_GLY SER 8.3kJPN
chr2:130832041 		rs1298799127
- 0.0004 -
302_GLY SER 8.3kJPN
chr2:131220613 		rs1477361505
- 0.0003 -
302_GLY SER 8.3kJPN
chr2:131415226 		rs530783531
- 0.0012 -
305_MET ARG ClinVar
chr1:229567538 		-
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
305_MET ILE gnomAD
chr2:132022043 		rs1441453486
- 0.00114704 -
305_MET THR 8.3kJPN
chr2:130832031 		-
- 0.0001 -
307_PRO SER ClinVar
chr1:229567533 		-
Likely pathogenic - Congenital myopathy [MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245]
309_MET VAL 8.3kJPN
chr2:131415247 		-
- 0.0002 -
311_ASP HIS ClinVar
chr7:5567688 		rs1784803432
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
312_ARG HIS ClinVar
chr15:35083364 		rs121912673
Likely pathogenic - Dilated cardiomyopathy 1R|not provided|Atrial septal defect 5 [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:C3661900|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
312_ARG TER ClinVar
chr10:90697868 		rs886038978
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
315_LYS ASN ClinVar
chr15:35083354 		-
Likely pathogenic - Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
316_GLU LYS ClinVar
chr15:35083353 		rs730880403
Likely pathogenic - not provided [MedGen:CN517202]
318_ALA THR 8.3kJPN
chr2:130831993 		rs1433532425
- 0.0001 -
318_ALA THR 8.3kJPN
chr2:131415274 		rs1370046465
- 0.0001 -
318_ALA THR 8.3kJPN
chr2:132022080 		rs1250055033
- 0.0001 -
319_ALA SER gnomAD
chr2:130831990 		rs1388288122
- 0.000280804 -
322_PRO ARG ClinVar
chr7:5567654 		rs1784802825
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
322_PRO LEU ClinVar
chr2:74143873 		rs2104825201
Likely pathogenic - Chronic intestinal pseudoobstruction [MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]
322_PRO ARG gnomAD
chr2:131220552 		rs1265992054
- 0.000825083 -
322_PRO LEU gnomAD
chr2:131415287 		rs552095587
- 0.00329082 -
323_SER ASN 8.3kJPN
chr2:132022096 		-
- 0.0003 -
323_SER ILE 8.3kJPN
chr17:79477969 		-
- 0.0001 -
324_MET THR gnomAD
chr2:132022099 		rs1169124532
- 0.0022774 -
324_MET ILE 8.3kJPN
chr2:130831973 		-
- 0.0002 -
325_MET LYS ClinVar
chr1:229567478 		rs2102735175
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
325_LEU MET gnomAD
chr2:131220544 		rs769164031
- 0.700698 -
325_LEU MET 8.3kJPN
chr2:131220544 		rs769164031
- 0.7665 -
326_LYS ASN ClinVar
chr1:229567474 		rs398122936
Pathogenic - Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
328_ARG LYS gnomAD
chr2:131415305 		rs570591655
- 0.000187767 -
328_ARG LYS gnomAD
chr2:132022111 		rs1419665113
- 0.000128875 -
330_ILE VAL 8.3kJPN
chr1:229567386 		-
- 0.0001 -
330_ILE VAL 8.3kJPN
chr2:131415310 		rs1203074814
- 0.0001 -
331_ALA PRO ClinVar
chr15:35082750 		rs267606629
Pathogenic - Hypertrophic cardiomyopathy 11|Atrial septal defect 5 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
332_PRO SER ClinVar
chr1:229567380 		rs121909531
Likely pathogenic - Congenital myopathy with fiber type disproportion|Actin accumulation myopathy|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
332_PRO ALA ClinVar
chr17:79477850 		rs104894545
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20|Baraitser-winter syndrome 2 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
332_PRO ARG ClinVar
chr1:229567379 		rs1553255312
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
332_PRO HIS 8.3kJPN
chr2:132022123 		-
- 0.0004 -
333_PRO GLN ClinVar
chr1:229567376 		rs1057518493
Likely pathogenic - not provided [MedGen:CN517202]
333_PRO LEU ClinVar
chr1:229567376 		rs1057518493
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
333_PRO ALA ClinVar
chr1:229567377 		rs1558081384
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
333_PRO ARG ClinVar
chr1:229567376 		rs1057518493
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
334_GLU ALA ClinVar
chr1:229567373 		rs121909528
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
334_GLU ASP ClinVar
chr17:79477842 		rs113262912
Likely pathogenic - Rare genetic deafness [MedGen:C5680250,Orphanet:96210]
334_GLU ASP ClinVar
chr1:229567372 		-
Likely pathogenic - ACTA1-related condition [-]
335_ARG HIS ClinVar
chr17:79477840 		rs1555666392
Pathogenic/Likely pathogenic - Inborn genetic diseases|Baraitser-winter syndrome 2|Neurodevelopmental delay [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
335_ARG CYS ClinVar
chr7:5567504 		rs1784799038
Likely pathogenic - not provided [MedGen:C3661900]
335_ARG LEU gnomAD
chr2:130831941 		rs1208718953
- 0.000222198 -
335_ARG GLN 8.3kJPN
chr2:74146578 		rs1247270735
- 0.0001 -
335_ARG HIS 8.3kJPN
chr2:131415326 		rs1475294107
- 0.0001 -
335_ARG HIS 8.3kJPN
chr2:132022132 		rs1405334512
- 0.0005 -
338_SER PHE ClinVar
chr7:5567494 		rs1554329113
Likely pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
338_SER TRP ClinVar
chr17:79477831 		rs1192977984
Likely pathogenic - Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
338_SER PHE gnomAD
chr2:130831932 		rs1316551481
- 0.000184795 -
339_VAL MET gnomAD
chr2:130831930 		rs200913020
- 0.00204886 -
339_VAL MET gnomAD
chr2:131220502 		rs4850284
- 0.150659 -
339_VAL MET gnomAD
chr2:131415337 		rs534828213
- 0.00555061 -
339_VAL MET gnomAD
chr2:132022143 		rs1340227061
- 0.000925515 -
339_VAL MET 8.3kJPN
chr2:130831930 		rs200913020
- 0.2352 -
339_VAL MET 8.3kJPN
chr2:131220502 		rs4850284
- 0.8528 -
339_VAL MET 8.3kJPN
chr2:131415337 		rs534828213
- 0.3171 -
339_VAL MET 8.3kJPN
chr2:132022143 		rs1340227061
- 0.0004 -
340_TRP CYS ClinVar
chr7:5567487 		rs886041790
Pathogenic - not provided [MedGen:CN517202]
340_TRP CYS ClinVar
chr7:5567487 		rs886041790
Likely pathogenic - not provided [MedGen:CN517202]
341_VAL PHE 8.3kJPN
chr2:131415343 		rs1469949487
- 0.0001 -
342_GLY SER gnomAD
chr2:130831921 		rs1348356045
- 0.000128135 -
342_GLY SER gnomAD
chr2:132022152 		rs1361950856
- 0.000851347 -
342_GLY SER 8.3kJPN
chr2:130831921 		rs1348356045
- 0.0002 -
342_GLY SER 8.3kJPN
chr2:131220493 		rs1296351636
- 0.0003 -
342_GLY SER 8.3kJPN
chr2:131415346 		rs773872488
- 0.0004 -
347_ALA VAL gnomAD
chr2:130831905 		rs1166832413
- 0.000135428 -
347_ALA THR 8.3kJPN
chr2:131415361 		-
- 0.0005 -
348_SER LEU ClinVar
chr7:5567464 		rs886041309
Pathogenic/Likely pathogenic - not provided|Intellectual disability|Baraitser-Winter syndrome 1 [MedGen:C3661900|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
348_SER LEU ClinVar
chr1:229567331 		rs2102735031
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
348_SER LEU 8.3kJPN
chr2:132022171 		rs1194969990
- 0.0001 -
349_LEU VAL ClinVar
chr7:5567462 		rs1584261177
Likely pathogenic - not provided [MedGen:C3661900]
350_SER PRO ClinVar
chr1:229567326 		rs1553255301
Pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
351_THR ALA gnomAD
chr5:56777481 		rs150894951
- 0.000915685 -
352_PHE LEU ClinVar
chr1:229567320 		rs2102735014
Likely pathogenic - ACTA1-related myopathies [-]
353_GLN TER 8.3kJPN
chr2:130831888 		rs780382031
- 0.0004 -
355_MET ILE 8.3kJPN
chr10:90695043 		-
- 0.0001 -
356_TRP CYS ClinVar
chr1:229567306 		rs587777354
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
357_ILE LEU ClinVar
chr1:229567305 		rs121909524
Pathogenic - Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
357_ILE SER ClinVar
chr10:90695038 		rs2133237860
Likely pathogenic - not provided [MedGen:C3661900]
357_ILE VAL ClinVar
chr1:229567305 		-
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
357_ILE MET 8.3kJPN
chr2:130831874 		rs1186106272
- 0.0001 -
363_ASP HIS 8.3kJPN
chr2:131415409 		-
- 0.0001 -
363_ASP GLY 8.3kJPN
chr2:132022216 		-
- 0.0001 -
364_GLU LYS 8.3kJPN
chr5:56777442 		rs182995342
- 0.0001 -
366_GLY ASP 8.3kJPN
chr2:130831848 		rs370212198
- 0.0006 -
367_PRO LEU ClinVar
chr1:229567274 		rs1553255293
Likely pathogenic - not provided|Actin accumulation myopathy [MedGen:C3661900|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
367_PRO ALA 8.3kJPN
chr2:130831846 		-
- 0.0001 -
367_PRO LEU 8.3kJPN
chr10:90695008 		rs1290905867
- 0.0001 -
369_ILE VAL 8.3kJPN
chr17:79477739 		-
- 0.0001 -
370_VAL ALA ClinVar
chr17:79477735 		rs104894547
Pathogenic - Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
371_HIS GLN ClinVar
chr1:229567261 		-
Likely pathogenic - not provided [MedGen:CN517202]
371_HIS TYR gnomAD
chr2:130831834 		rs199947681
- 0.0053325 -
372_ARG HIS gnomAD
chr2:131220402 		rs1479226927
- 0.000689655 -
372_ARG HIS gnomAD
chr2:131415437 		rs1485807700
- 0.00015528 -
372_ARG CYS gnomAD
chr2:132022242 		rs200308787
- 0.000278862 -
372_ARG HIS gnomAD
chr2:132022243 		rs1247402800
- 0.000855146 -
372_ARG CYS 8.3kJPN
chr2:131415436 		rs1281797709
- 0.0001 -
372_ARG HIS 8.3kJPN
chr2:131415437 		rs1485807700
- 0.0002 -
372_ARG CYS 8.3kJPN
chr2:132022242 		rs200308787
- 0.0053 -
373_LYS TER ClinVar
chr7:5567390 		rs1554329068
Pathogenic - Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
373_LYS GLU ClinVar
chr1:229567257 		rs1571892209
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
373_LYS ASN ClinVar
chr1:229567255 		-
Likely pathogenic - Nemaline myopathy [MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607]
374_CYS PHE ClinVar
chr1:229567253 		rs1571892196
Pathogenic/Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
374_CYS TYR gnomAD
chr2:131415443 		rs1209680458
- 0.000478717 -
375_PHE SER ClinVar
chr1:229567250 		rs1571892193
Likely pathogenic - Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
375_PHE LEU gnomAD
chr2:131220392 		rs1250476936
- 0.192893 -
375_PHE LEU gnomAD
chr2:131415447 		rs1255188621
- 0.0017958 -
375_LEU PHE 8.3kJPN
chr2:130831820 		rs1224565743
- 0.0001 -
375_PHE LEU 8.3kJPN
chr2:131220392 		rs1250476936
- 0.0007 -
375_PHE LEU 8.3kJPN
chr2:131415447 		rs1255188621
- 0.0007 -
375_PHE LEU 8.3kJPN
chr2:132022253 		rs1206470114
- 0.0291 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.