| PDB ID | 3B8E
|
CHAIN | A |
|---|---|---|---|
| Protein name | Sodium/potassium-transporting ATPase subunit alpha-1 | ||
| Uniprot Accession | P05024 | ||
| The number of similar proteins | 26 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 5 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 3B8E (CHAIN: A) | |
| 1 |
P05027
|
| 2 |
P05027
|
| 3 |
Q58K79
P05027
|
| 4 |
P05027
Q58K79
|
| 5 |
P05024
Q58K79
P05027
|
| 6 |
P05024
Q58K79
P05027
P05027
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 23_LYS | MET |
8.3kJPN chr1:160090766 rs1377838920 |
- | 0.0001 | - | - | |
| 41_LEU | ARG |
ClinVar chr1:116927424 rs1553190285 |
Pathogenic | - | - | Charcot-marie-tooth disease, axonal, type 2DD|not provided|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947] | |
| 42_ASP | GLU |
8.3kJPN chr1:116927428 - |
- | 0.0002 | - | - | |
| 45_GLY | SER |
8.3kJPN chr1:160091012 - |
- | 0.0001 | - | - | |
| 46_ARG | HIS |
gnomAD chr1:160091016 rs144106169 |
- | 0.000123271 | - | - | |
| 46_ARG | CYS |
8.3kJPN chr1:160091015 rs747283283 |
- | 0.0002 | - | - | |
| 46_ARG | HIS |
8.3kJPN chr1:160091016 rs144106169 |
- | 0.0001 | - | - | |
| 52_LEU | PRO |
8.3kJPN chr1:160091034 rs748802547 |
- | 0.0001 | - | - | |
| 57_THR | ILE |
8.3kJPN chr1:160093010 - |
- | 0.0001 | - | - | |
| 59_GLN | LEU |
8.3kJPN chr1:160093016 - |
- | 0.0001 | - | - | |
| 60_ARG | LEU |
gnomAD chr1:160093019 rs187733403 |
- | 0.000342539 | - | - | |
| 60_ARG | TRP |
8.3kJPN chr1:160093018 rs121918619 |
- | 0.0001 | - | - | |
| 60_ARG | LEU |
8.3kJPN chr1:160093019 rs187733403 |
- | 0.0101 | - | - | |
| 67_ARG | TER |
8.3kJPN chr1:160093039 - |
- | 0.0001 | - | - | |
| 87_ARG | GLN |
8.3kJPN chr1:116930007 rs145341046 |
- | 0.0001 | - | - | |
| 92_GLY | SER |
ClinVar chr19:42492180 rs1057522886 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 92_GLY | ALA |
ClinVar chr19:42492179 rs1599725621 |
Pathogenic/Likely pathogenic | - | - | Dystonia 12|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900] | |
| 92_GLY | CYS |
ClinVar chr19:42492180 - |
Likely pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171] | |
| 95_MET | LEU |
8.3kJPN chr1:116930030 - |
- | 0.0001 | - | - | |
| 97_LEU | ARG |
ClinVar chr1:116930037 rs11540945 |
Pathogenic | - | - | Aldosterone-producing adrenal cortex adenoma [MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625] | |
| 97_LEU | PRO |
ClinVar chr19:42492164 - |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 109_GLY | SER |
gnomAD chr1:160093165 rs116711766 |
- | 0.000815278 | - | - | |
| 110_ILE | THR |
8.3kJPN chr1:116930076 - |
- | 0.0013 | - | - | |
| 118_PRO | GLN |
8.3kJPN chr1:160093193 rs1323826655 |
- | 0.0001 | - | - | |
| 130_ALA | VAL |
ClinVar chr19:42490359 rs2075284959 |
Likely pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 132_VAL | MET |
ClinVar chr19:42490354 rs1555865401 |
Pathogenic/Likely pathogenic | - | - | Juvenile onset psychosis|Dystonia 12|not provided|Alternating hemiplegia of childhood 2 [MedGen:CN236437|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:CN517202|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 140_SER | PHE |
ClinVar chr19:42490329 rs542652468 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|Ventriculomegaly [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|Human Phenotype Ontology:HP:0002119,Human Phenotype Ontology:HP:0002447,Human Phenotype Ontology:HP:0005691,Human Phenotype Ontology:HP:0007071,MedGen:C3278923]; Abnormal earlobe morphology [Human Phenotype Ontology:HP:0000363,MedGen:C4021808]; Depressed nasal bridge [Human Phenotype Ontology:HP:0000425,Human Phenotype Ontology:HP:0000428,Human Phenotype Ontology:HP:0000439,Human Phenotype Ontology:HP:0000459,Human Phenotype Ontology:HP:0004413,Human Phenotype Ontology:HP:0004505,Human Phenotype Ontology:HP:0004506,Human Phenotype Ontology:HP:0004666,Human Phenotype Ontology:HP:0005119,Human Phenotype Ontology:HP:0005280,Human Phenotype Ontology:HP:0005284,MedGen:C1836542]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Epicanthus|Dystonia 12|not provided [Human Phenotype Ontology:HP:0000286,Human Phenotype Ontology:HP:0000624,Human Phenotype Ontology:HP:0007930,MedGen:C0678230,OMIM:131500|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900] | |
| 140_SER | TYR |
ClinVar chr19:42490329 rs542652468 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 142_TYR | CYS |
8.3kJPN chr1:116930811 rs755220071 |
- | 0.0001 | - | - | |
| 143_GLN | LYS |
8.3kJPN chr1:160093793 - |
- | 0.0001 | - | - | |
| 157_MET | VAL |
ClinVar chr19:42490279 rs1135401821 |
Likely pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171] | |
| 170_LYS | ASN |
8.3kJPN chr1:160094115 - |
- | 0.0001 | - | - | |
| 186_VAL | MET |
ClinVar chr1:160094161 rs869025341 |
Pathogenic | - | - | Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 191_ARG | TER |
ClinVar chr19:42490060 rs2075282510 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 197_ARG | TRP |
ClinVar chr1:160094194 rs1219118149 |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 197_ARG | GLN |
ClinVar chr1:160094195 - |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 224_PHE | LEU |
8.3kJPN chr1:116931578 - |
- | 0.0002 | - | - | |
| 225_THR | ILE |
8.3kJPN chr19:42489517 - |
- | 0.0001 | - | - | |
| 227_ASP | ASN |
8.3kJPN chr19:42489512 rs1271282195 |
- | 0.0003 | - | - | |
| 248_ARG | HIS |
8.3kJPN chr1:116932070 rs1258171077 |
- | 0.0002 | - | - | |
| 258_THR | MET |
ClinVar chr1:160097381 rs777400961 |
Pathogenic/Likely pathogenic | - | - | not provided|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 274_ARG | GLN |
gnomAD chr1:160097429 rs373178892 |
- | 0.000115342 | - | - | |
| 274_ARG | GLN |
8.3kJPN chr1:160097429 rs373178892 |
- | 0.0001 | - | - | |
| 277_ILE | THR |
ClinVar chr19:42489242 rs80356532 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 277_ILE | ASN |
ClinVar chr19:42489242 rs80356532 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 277_ILE | PHE |
ClinVar chr19:42489243 - |
Likely pathogenic | - | - | ATP1A3-Related Disorders [-] | |
| 280_GLU | LYS |
ClinVar chr19:42489234 rs80356533 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 281_ILE | THR |
ClinVar chr1:160097450 rs121918617 |
Likely pathogenic | - | - | Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 286_GLN | HIS |
8.3kJPN chr1:160097466 - |
- | 0.0001 | - | - | |
| 288_ILE | MET |
ClinVar chr1:160097472 rs1553244746 |
Pathogenic | - | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
| 288_ILE | LEU |
8.3kJPN chr19:42489210 - |
- | 0.0009 | - | - | |
| 289_THR | PRO |
8.3kJPN chr19:42489207 - |
- | 0.0005 | - | - | |
| 295_LEU | PRO |
ClinVar chr1:116932211 rs1557785499 |
Pathogenic | - | - | Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314] | |
| 295_LEU | ARG |
ClinVar chr19:42489188 rs2145977887 |
Pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 295_LEU | ARG |
ClinVar chr1:116932211 rs1557785499 |
Pathogenic | - | - | Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314] | |
| 296_GLY | ARG |
ClinVar chr1:160097494 rs121918612 |
Pathogenic | - | - | Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 296_GLY | ARG |
ClinVar chr1:116932213 rs1557785503 |
Pathogenic | - | - | Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314] | |
| 296_GLY | GLU |
ClinVar chr1:160097495 - |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 318_ILE | PHE |
ClinVar chr19:42489120 - |
Likely pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 319_GLY | SER |
ClinVar chr19:42489117 rs869320661 |
Pathogenic | - | - | Dystonia 12|ATP1A3-Related Disorders [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|] | |
| 319_GLY | VAL |
ClinVar chr19:42489116 rs2145977758 |
Pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 321_ILE | MET |
ClinVar chr19:42489109 rs529241207 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 323_ALA | THR |
ClinVar chr19:42489105 rs879255368 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 323_ALA | PRO |
ClinVar chr19:42489105 rs879255368 |
Pathogenic/Likely pathogenic | - | - | Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637]; Apnea [Human Phenotype Ontology:HP:0002104,Human Phenotype Ontology:HP:0005936,Human Phenotype Ontology:HP:0005958,MedGen:C0003578]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Hemiplegia|Dystonia 12 [Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 325_VAL | GLY |
ClinVar chr1:116932301 rs724160010 |
Pathogenic | - | - | Aldosterone-producing adrenal cortex adenoma [MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625] | |
| 325_VAL | MET |
ClinVar chr1:160097581 rs1236883845 |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 326_PRO | SER |
ClinVar chr19:42489096 rs864309572 |
Pathogenic/Likely pathogenic | - | - | not provided|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 326_PRO | ARG |
ClinVar chr1:116932304 rs1401759980 |
Likely pathogenic | - | - | Marfanoid habitus and intellectual disability [MedGen:CN263130] | |
| 326_PRO | ALA |
ClinVar chr1:160097584 - |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 327_GLU | GLY |
ClinVar chr19:42489092 rs797044897 |
Pathogenic/Likely pathogenic | - | - | Inborn genetic diseases|not provided [MeSH:D030342,MedGen:C0950123|MedGen:CN517202] | |
| 327_GLU | GLY |
ClinVar chr1:116932307 rs2101045655 |
Likely pathogenic | - | - | Charcot-marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414] | |
| 328_GLY | ASP |
ClinVar chr19:42489089 rs863224847 |
Pathogenic/Likely pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not provided [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MedGen:CN517202] | |
| 329_LEU | ARG |
ClinVar chr19:42489086 rs1131691307 |
Pathogenic/Likely pathogenic | - | - | not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 329_LEU | PRO |
ClinVar chr19:42489086 - |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 334_THR | PRO |
ClinVar chr19:42489072 - |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 336_CYS | PHE |
ClinVar chr1:160098446 rs1057521630 |
Likely pathogenic | - | - | not provided|Developmental and epileptic encephalopathy 98 [MedGen:CN517202|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605] | |
| 336_CYS | TYR |
ClinVar chr19:42486254 - |
Likely pathogenic | - | - | Alternating hemiplegia of childhood [MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131] | |
| 336_CYS | TYR |
ClinVar chr1:160098446 - |
Likely pathogenic | - | - | Developmental and epileptic encephalopathy 98|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 338_THR | MET |
ClinVar chr19:42486248 rs1131691940 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 338_THR | LYS |
ClinVar chr19:42486248 rs1131691940 |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 340_THR | ALA |
ClinVar chr1:160098457 rs121918613 |
Pathogenic | - | - | Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 341_ALA | PRO |
ClinVar chr19:42486240 rs2145972624 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 346_ARG | GLN |
8.3kJPN chr1:160098476 rs754655141 |
- | 0.0001 | - | - | |
| 349_CYS | ARG |
ClinVar chr19:42486216 rs1599719534 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 357_VAL | MET |
ClinVar chr1:160098508 - |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 359_THR | MET |
ClinVar chr1:160098515 rs1553244881 |
Pathogenic/Likely pathogenic | - | - | not provided|Inborn genetic diseases|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 361_GLY | CYS |
ClinVar chr19:42486180 rs606231432 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 361_GLY | ARG |
ClinVar chr19:42486180 rs606231432 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 361_GLY | SER |
ClinVar chr1:160098520 rs1553244883 |
Likely pathogenic | - | - | not provided|Developmental and epileptic encephalopathy 98 [MedGen:C3661900|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605] | |
| 361_GLY | VAL |
ClinVar chr1:160098521 rs1057518514 |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 361_GLY | ASP |
ClinVar chr19:42486179 rs1555863693 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 361_GLY | SER |
ClinVar chr19:42486180 rs606231432 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 362_SER | TYR |
ClinVar chr19:42486176 rs2075237416 |
Likely pathogenic | - | - | ATP1A3-associated neurological disorder [MONDO:MONDO:0700002,MedGen:CN305087] | |
| 363_THR | MET |
ClinVar chr1:160098527 rs746383817 |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 363_THR | ARG |
ClinVar chr19:42486173 - |
Pathogenic/Likely pathogenic | - | - | Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 364_SER | PRO |
ClinVar chr19:42486171 rs2145972497 |
Pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 366_ILE | THR |
ClinVar chr19:42486164 rs2145972483 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 367_CYS | ARG |
ClinVar chr19:42486162 rs2075237136 |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 371_THR | MET |
ClinVar chr1:160098551 rs121918620 |
Pathogenic/Likely pathogenic | - | - | Migraine, familial hemiplegic, 2|Familial hemiplegic migraine|Inborn genetic diseases|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MeSH:D030342,MedGen:C0950123|MedGen:C3661900] | |
| 372_GLY | VAL |
ClinVar chr1:160098554 - |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 373_THR | ASN |
ClinVar chr1:160098557 rs28934002 |
Pathogenic/Likely pathogenic | - | - | Alternating hemiplegia of childhood 1|Familial hemiplegic migraine [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 373_THR | ALA |
ClinVar chr19:42486144 rs2145972442 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 373_THR | ILE |
ClinVar chr19:42486143 - |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 378_ARG | HIS |
ClinVar chr1:160098572 rs765909830 |
Pathogenic/Likely pathogenic | - | - | not provided|Alternating hemiplegia of childhood 1|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 381_VAL | ILE |
8.3kJPN chr1:160098580 rs137878081 |
- | 0.0001 | - | - | |
| 387_ASP | ASN |
8.3kJPN chr1:160098598 - |
- | 0.0001 | - | - | |
| 388_ASN | SER |
8.3kJPN chr1:116932995 rs138556439 |
- | 0.0001 | - | - | |
| 392_GLU | LYS |
ClinVar chr19:42486087 rs1555863623 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 399_GLN | HIS |
8.3kJPN chr1:160098636 - |
- | 0.0001 | - | - | |
| 407_ARG | TER |
ClinVar chr1:160098787 - |
Pathogenic/Likely pathogenic | - | - | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies|not provided|Familial hemiplegic migraine [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602|MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 416_ARG | TER |
ClinVar chr1:160098814 rs1165052640 |
Pathogenic/Likely pathogenic | - | - | not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 416_ARG | GLN |
8.3kJPN chr1:160098815 rs139499540 |
- | 0.0001 | - | - | |
| 419_GLY | SER |
8.3kJPN chr1:116933457 - |
- | 0.0001 | - | - | |
| 431_GLU | LYS |
8.3kJPN chr1:160098859 rs866493442 |
- | 0.0001 | - | - | |
| 434_PRO | HIS |
8.3kJPN chr1:116933503 - |
- | 0.0004 | - | - | |
| 464_ARG | TER |
ClinVar chr1:160099134 - |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 466_ARG | CYS |
gnomAD chr19:42485704 rs150785666 |
- | 0.00046522 | - | - | |
| 467_ASN | SER |
gnomAD chr1:160099144 rs529607288 |
- | 0.000179217 | - | - | |
| 480_LYS | TER |
ClinVar chr1:160099182 rs2101989829 |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 480_LYS | TER |
ClinVar chr19:42485662 rs2145971509 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 487_GLU | LYS |
gnomAD chr1:160099904 rs142348542 |
- | 0.000441925 | - | - | |
| 487_GLU | LYS |
8.3kJPN chr1:160099904 rs142348542 |
- | 0.0001 | - | - | |
| 488_ARG | TER |
ClinVar chr1:160099907 rs534696343 |
Likely pathogenic | - | - | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602] | |
| 488_ARG | TER |
8.3kJPN chr1:160099907 rs534696343 |
- | 0.0001 | - | - | |
| 497_VAL | MET |
gnomAD chr1:160099931 rs150465651 |
- | 0.000202961 | - | - | |
| 510_ARG | CYS |
8.3kJPN chr1:116936234 rs574791429 |
- | 0.0001 | - | - | |
| 510_ARG | HIS |
8.3kJPN chr1:116936235 rs11540949 |
- | 0.0001 | - | - | |
| 520_GLU | TER |
ClinVar chr1:160100000 - |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 525_LYS | GLN |
8.3kJPN chr1:160100015 rs377024509 |
- | 0.0009 | - | - | |
| 526_GLU | GLY |
8.3kJPN chr1:160100019 rs201296747 |
- | 0.0002 | - | - | |
| 544_ARG | HIS |
ClinVar chr1:160100073 rs121918616 |
Pathogenic/Likely pathogenic | - | - | Migraine, familial basilar|not provided|Familial hemiplegic migraine|ATP1A2-RELATED DISORDERS|Migraine, familial hemiplegic, 2 [MedGen:C1865323|MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500||MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 544_ARG | CYS |
ClinVar chr1:160100072 rs1651731153 |
Pathogenic | - | - | not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 551_LEU | VAL |
8.3kJPN chr1:116937743 - |
- | 0.0001 | - | - | |
| 552_ASN | TYR |
gnomAD chr1:160100226 rs141467566 |
- | 0.000178944 | - | - | |
| 553_LEU | PRO |
8.3kJPN chr1:160100230 - |
- | 0.0001 | - | - | |
| 557_GLN | ARG |
8.3kJPN chr1:116937762 rs754714789 |
- | 0.0001 | - | - | |
| 560_ARG | TRP |
8.3kJPN chr1:160100250 rs762330744 |
- | 0.0002 | - | - | |
| 566_THR | MET |
8.3kJPN chr1:160100269 rs758815329 |
- | - | - | - | |
| 573_ILE | VAL |
gnomAD chr1:116937809 rs77217304 |
- | 0.0218743 | - | - | |
| 577_CYS | TER |
ClinVar chr1:160100303 rs1570990484 |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 585_ILE | THR |
ClinVar chr1:116937846 rs1553192086 |
Pathogenic | - | - | Charcot-marie-tooth disease, axonal, type 2DD|not provided|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947] | |
| 589_ARG | GLN |
ClinVar chr1:160100338 rs1553245178 |
Pathogenic | - | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
| 589_ARG | LEU |
ClinVar chr1:160100338 rs1553245178 |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 593_PRO | ALA |
ClinVar chr1:116937869 rs1553192091 |
Pathogenic | - | - | Charcot-marie-tooth disease, axonal, type 2DD|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947] | |
| 593_PRO | THR |
ClinVar chr1:116937869 rs1553192091 |
Likely pathogenic | - | - | Charcot-marie-tooth disease, axonal, type 2DD|not provided|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947] | |
| 593_PRO | ARG |
ClinVar chr1:116937870 rs2101055022 |
Likely pathogenic | - | - | Charcot-marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414] | |
| 600_ARG | GLN |
ClinVar chr1:160100371 rs747238010 |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 600_ARG | HIS |
ClinVar chr19:42482319 rs1599715341 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 600_ARG | TER |
ClinVar chr1:160100370 rs1469902667 |
Pathogenic | - | - | not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 602_ALA | THR |
ClinVar chr1:160100376 rs1414742926 |
Pathogenic | - | - | not provided|Familial hemiplegic migraine|ATP1A2-related condition [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|] | |
| 602_ALA | GLU |
ClinVar chr1:160100377 rs1553245183 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 604_ILE | VAL |
8.3kJPN chr1:160100382 rs762121770 |
- | 0.0002 | - | - | |
| 611_GLY | ARG |
ClinVar chr1:160104289 rs770053423 |
Pathogenic/Likely pathogenic | - | - | Alternating hemiplegia of childhood 1|Familial hemiplegic migraine [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 616_THR | MET |
ClinVar chr19:42482193 - |
Pathogenic | - | - | Dystonia 12|not provided|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 624_VAL | MET |
ClinVar chr1:160104328 rs1553245659 |
Pathogenic | - | - | not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 626_ILE | LEU |
ClinVar chr1:160104334 rs1382260409 |
Likely pathogenic | - | - | Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 640_ARG | HIS |
gnomAD chr1:116939323 rs201085928 |
- | 0.000104217 | - | - | |
| 645_MET | LEU |
8.3kJPN chr1:160104391 rs1259879948 |
- | 0.0006 | - | - | |
| 647_GLN | TER |
ClinVar chr19:42482101 rs1555861946 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 656_CYS | TER |
ClinVar chr19:42480703 rs782105093 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 662_ASP | VAL |
8.3kJPN chr1:160104967 - |
- | 0.0001 | - | - | |
| 680_GLU | LYS |
ClinVar chr19:42480633 - |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 685_ARG | GLN |
ClinVar chr1:160105036 rs28933401 |
Likely pathogenic | - | - | Migraine, familial hemiplegic, 2|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MedGen:C3661900] | |
| 687_SER | PHE |
ClinVar chr19:42480611 rs397515577 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 687_SER | TYR |
ClinVar chr19:42480611 - |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 687_SER | PHE |
ClinVar chr1:160105042 - |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 709_GLY | ARG |
ClinVar chr19:42479928 - |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 711_GLY | ARG |
ClinVar chr1:160105251 rs1553245771 |
Pathogenic | - | - | not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 713_ASN | LYS |
ClinVar chr1:160105259 rs140707454 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 714_ASP | ASN |
ClinVar chr1:160105260 rs121918614 |
Likely pathogenic | - | - | Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 718_LEU | PRO |
ClinVar chr19:42479900 rs2075159021 |
Pathogenic/Likely pathogenic | - | - | Dystonia 12|Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 721_ALA | ASP |
ClinVar chr19:42479891 rs2075158829 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 726_ALA | PRO |
ClinVar chr19:42479877 - |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 727_MET | THR |
ClinVar chr1:160105300 rs28933400 |
Likely pathogenic | - | - | Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 733_ASP | GLY |
8.3kJPN chr1:160105318 rs1418054654 |
- | 0.0001 | - | - | |
| 734_VAL | ILE |
8.3kJPN chr1:160105320 rs1558008569 |
- | 0.0001 | - | - | |
| 735_SER | TYR |
ClinVar chr19:42479849 rs1599712523 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 745_ASP | TYR |
ClinVar chr19:42479820 rs1135401822 |
Likely pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171] | |
| 745_ASP | VAL |
ClinVar chr19:42479819 rs2145959393 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 754_GLY | GLU |
ClinVar chr19:42479792 rs1599712456 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 754_GLY | ALA |
gnomAD chr1:160105381 rs147183887 |
- | 0.000298382 | - | - | |
| 758_GLY | ALA |
ClinVar chr19:42474694 rs606231434 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 758_GLY | CYS |
ClinVar chr19:42479781 rs557052809 |
Pathogenic | - | - | Dystonia 12|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900] | |
| 758_GLY | SER |
ClinVar chr19:42479781 rs557052809 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 759_ARG | HIS |
ClinVar chr19:42474691 rs606231435 |
Pathogenic/Likely pathogenic | - | - | Dystonia 12|Alternating hemiplegia of childhood 2|Inborn genetic diseases|not provided|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not specified|ATP1A3-associated neurological disorder [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MedGen:CN169374|MONDO:MONDO:0700002,MedGen:CN305087] | |
| 759_ARG | CYS |
ClinVar chr19:42474692 rs1064797245 |
Pathogenic/Likely pathogenic | - | - | not provided|Inborn genetic diseases|Alternating hemiplegia of childhood 2|Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171] | |
| 759_ARG | SER |
ClinVar chr19:42474692 - |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 759_ARG | LEU |
ClinVar chr1:160105632 - |
Likely pathogenic | - | - | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602] | |
| 760_LEU | PRO |
ClinVar chr1:160105635 rs28933398 |
Pathogenic | - | - | Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 760_LEU | PRO |
ClinVar chr19:42474688 rs606231436 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 761_ILE | SER |
ClinVar chr19:42474685 rs80356535 |
Likely pathogenic | - | - | Dystonia 12|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900] | |
| 771_TYR | CYS |
ClinVar chr19:42474655 rs1599706613 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 774_THR | ILE |
ClinVar chr19:42474646 rs557939077 |
Pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171] | |
| 775_SER | ASN |
ClinVar chr19:42474643 rs1064795234 |
Pathogenic/Likely pathogenic | - | - | not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 775_SER | ASN |
ClinVar chr1:160105680 rs2101995480 |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131] | |
| 776_ASN | SER |
ClinVar chr19:42474640 rs606231437 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|not provided|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 778_PRO | THR |
ClinVar chr19:42474635 rs1555859593 |
Likely pathogenic | - | - | Inborn genetic diseases|not provided [MeSH:D030342,MedGen:C0950123|MedGen:C3661900] | |
| 779_GLU | ASP |
ClinVar chr19:42474630 rs1085307992 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 779_GLU | LYS |
ClinVar chr19:42474632 rs2145948130 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 780_ILE | ASN |
ClinVar chr19:42474628 rs1599706522 |
Likely pathogenic | - | - | Alternating hemiplegia of childhood [MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131] | |
| 781_THR | PRO |
ClinVar chr19:42474626 rs1599706511 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 782_PRO | LEU |
ClinVar chr1:160105701 rs1209724722 |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 783_PHE | LEU |
ClinVar chr19:42474620 rs80356536 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 790_ASN | SER |
8.3kJPN chr1:160105725 rs1207066234 |
- | 0.0001 | - | - | |
| 792_PRO | ARG |
ClinVar chr1:160105731 rs1651922528 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 804_ASP | TYR |
ClinVar chr19:42474557 rs80356537 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 804_ASP | ASN |
ClinVar chr19:42474557 - |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12|Dystonia 12|Inborn genetic diseases|not provided|Tetraparesis [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|Human Phenotype Ontology:HP:0002273,Human Phenotype Ontology:HP:0002338,MedGen:C0270790]; Dystonic disorder [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421]; Oculogyric crisis|ATP1A3-Related Disorders|Developmental and epileptic encephalopathy 99 [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637||MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 804_ASP | HIS |
ClinVar chr19:42474557 rs80356537 |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 804_ASP | GLU |
ClinVar chr1:160105768 rs1570994712 |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 806_GLY | ASP |
ClinVar chr19:42474550 rs1555859571 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 806_GLY | ARG |
ClinVar chr19:42474551 rs2075090666 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 806_GLY | SER |
ClinVar chr19:42474551 rs2075090666 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 808_ASP | GLU |
ClinVar chr19:42474543 rs606231439 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 808_ASP | HIS |
ClinVar chr1:160105778 rs1558008759 |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 808_ASP | GLU |
ClinVar chr19:42474543 rs606231439 |
Likely pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 809_MET | ARG |
ClinVar chr19:42474541 rs549006436 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 812_ALA | PRO |
ClinVar chr19:42474454 - |
Pathogenic | - | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
| 814_SER | PRO |
ClinVar chr19:42474448 rs387907282 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 818_GLU | LYS |
ClinVar chr19:42474436 rs387907281 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|Dystonia 12|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12|Hemiplegia [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991]; Global developmental delay [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]; Oculogyric crisis|not provided|not specified|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|Dyskinesia [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606|Human Phenotype Ontology:HP:0100660,MedGen:C0013384]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]; Dystonic disorder [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421] | |
| 821_GLU | LYS |
ClinVar chr19:42474427 rs587777771 |
Pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|Dystonia 12|not provided|Inborn genetic diseases [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900|MeSH:D030342,MedGen:C0950123] | |
| 823_ASP | ASN |
8.3kJPN chr19:42474421 rs782378337 |
- | 0.0001 | - | - | |
| 825_MET | VAL |
ClinVar chr1:160106082 rs2101995847 |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 830_ARG | GLN |
ClinVar chr1:160106098 rs2101995864 |
Pathogenic | - | - | Familial hemiplegic migraine|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 830_ARG | TRP |
ClinVar chr19:42474400 - |
Pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 830_ARG | LEU |
ClinVar chr1:160106098 - |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 833_ARG | GLN |
8.3kJPN chr19:42474390 rs368371895 |
- | 0.0001 | - | - | |
| 837_LEU | PRO |
ClinVar chr1:116942124 rs1653241392 |
Likely pathogenic | - | - | Charcot-marie-tooth disease, axonal, type 2DD|Intellectual disability [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|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] | |
| 846_ALA | ASP |
ClinVar chr19:42474351 - |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 847_TYR | CYS |
ClinVar chr1:160106149 - |
Likely pathogenic | - | - | See cases [-] | |
| 851_GLY | GLU |
ClinVar chr1:160106360 rs149144720 |
Likely pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 851_GLY | ARG |
ClinVar chr1:160106160 rs1553245857 |
Pathogenic | - | - | not provided|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]; Developmental and epileptic encephalopathy 98 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]; Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131] | |
| 851_GLY | ALA |
ClinVar chr19:42473732 rs1599705281 |
Likely pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171] | |
| 852_MET | ARG |
ClinVar chr1:116943486 rs781629728 |
Pathogenic | - | - | Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314] | |
| 854_GLN | ARG |
ClinVar chr19:42473723 rs2145946065 |
Likely pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not provided [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MedGen:C3661900] | |
| 854_GLN | PRO |
ClinVar chr19:42473723 - |
Pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 870_GLY | ASP |
ClinVar chr19:42473675 rs606231442 |
Pathogenic | - | - | not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 870_GLY | SER |
ClinVar chr1:160106416 rs1651959213 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 874_GLY | SER |
8.3kJPN chr19:42473664 rs554237072 |
- | 0.0001 | - | - | |
| 883_TRP | ARG |
ClinVar chr1:160106455 rs28933399 |
Pathogenic | - | - | Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 888_VAL | ILE |
gnomAD chr19:42473622 rs149600313 |
- | 0.000139173 | - | - | |
| 896_GLY | ARG |
ClinVar chr1:160106494 rs1553245908 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 896_GLY | ARG |
ClinVar chr19:42473598 rs1568853466 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 896_GLY | ARG |
ClinVar chr19:42473598 rs1568853466 |
Pathogenic | - | - | not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 899_TRP | ARG |
ClinVar chr19:42473589 rs2145945797 |
Likely pathogenic | - | - | Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606] | |
| 899_TRP | TER |
ClinVar chr1:160106504 - |
Pathogenic | - | - | Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 904_ARG | GLN |
ClinVar chr1:160106704 rs2101996488 |
Pathogenic/Likely pathogenic | - | - | not provided|Developmental and epileptic encephalopathy 98|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569] | |
| 910_THR | MET |
8.3kJPN chr1:160106722 rs1205366030 |
- | 0.0001 | - | - | |
| 911_CYS | SER |
8.3kJPN chr19:42473033 - |
- | 0.0001 | - | - | |
| 921_VAL | MET |
8.3kJPN chr1:160106754 - |
- | 0.0001 | - | - | |
| 922_VAL | LEU |
ClinVar chr1:160106757 rs1651973884 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 923_GLN | ARG |
ClinVar chr19:42472997 rs2075071667 |
Likely pathogenic | - | - | Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 923_GLN | PRO |
ClinVar chr19:42472997 - |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 924_TRP | TER |
ClinVar chr19:42472993 rs1060500993 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 924_TRP | ARG |
ClinVar chr1:116943824 rs1570980551 |
Pathogenic | - | - | Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314] | |
| 926_ASP | ASN |
ClinVar chr19:42472989 rs267606670 |
Pathogenic | - | - | Dystonia 12|Alternating hemiplegia of childhood 2|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12|not provided|ATP1A3-associated neurological disorder [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900|MONDO:MONDO:0700002,MedGen:CN305087] | |
| 926_ASP | TYR |
ClinVar chr19:42472989 rs267606670 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|not provided|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 926_ASP | ALA |
ClinVar chr19:42472988 rs2075071528 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 926_ASP | ASN |
ClinVar chr1:116943830 rs2101066493 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 926_ASP | HIS |
ClinVar chr19:42472989 rs267606670 |
Pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 927_LEU | PRO |
ClinVar chr19:42472985 rs1555859157 |
Pathogenic | - | - | Inborn genetic diseases|Dystonia 12 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 933_ARG | HIS |
ClinVar chr1:160106791 rs1553245943 |
Likely pathogenic | - | - | Inborn genetic diseases|Familial hemiplegic migraine [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 939_GLN | TER |
ClinVar chr19:42472950 rs1555859144 |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
| 939_GLN | TER |
ClinVar chr1:160106808 - |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 950_GLY | ARG |
ClinVar chr19:42471896 rs398122887 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|Hemiplegia [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991]; Epilepsy|not provided|Dystonia 12|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544|MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 950_GLY | ARG |
ClinVar chr19:42471896 rs398122887 |
Pathogenic | - | - | Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 950_GLY | GLU |
ClinVar chr19:42471895 rs886041431 |
Pathogenic | - | - | not provided|Alternating hemiplegia of childhood 2 [MedGen:CN517202|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131] | |
| 950_GLY | TRP |
ClinVar chr19:42471896 rs398122887 |
Pathogenic/Likely pathogenic | - | - | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 953_GLU | TER |
ClinVar chr1:160109458 rs1558010146 |
Pathogenic | - | - | Polymicrogyria|Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies|not provided [Human Phenotype Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981|MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602|MedGen:CN517202] | |
| 954_GLU | LYS |
ClinVar chr19:42471884 rs2145942372 |
Likely pathogenic | - | - | Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517] | |
| 958_ALA | SER |
8.3kJPN chr1:160109473 - |
- | 0.0001 | - | - | |
| 975_PRO | LEU |
ClinVar chr1:160109525 rs121918615 |
Pathogenic | - | - | Migraine, familial hemiplegic, 2|Familial hemiplegic migraine|not provided|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MedGen:C3661900|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131] | |
| 998_ARG | GLN |
ClinVar chr1:160109745 rs757310141 |
Pathogenic/Likely pathogenic | - | - | not provided|Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 1003_ARG | GLN |
8.3kJPN chr1:160109760 rs754878991 |
- | 0.0001 | - | - | |
| 1004_ARG | GLN |
8.3kJPN chr1:160109763 rs781023681 |
- | 0.0009 | - | - | |
| 1005_TYR | TER |
ClinVar chr1:160109767 rs1570998206 |
Pathogenic/Likely pathogenic | - | - | Epilepsy|Familial hemiplegic migraine [MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500] | |
| 1007_GLY | ALA |
8.3kJPN chr19:42471403 rs782204932 |
- | 0.0001 | - | - |