PiSITE

PDB ID	4DRX	CHAIN	B
Protein name	Tubulin beta chain
Uniprot Accession	D0VWY9
The number of similar proteins	642
The number of binding states	17
The number of binding partners	10

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	4DRX (CHAIN: B)
1	P81947 5EIB
2	6GWC
3	D0VWZ0 4F61
4	6GWD 6GWD
5	D0VWZ0 Q9Z8L4
6	A0A6P7DY20 Q9HC77
7	D0VWZ0 D0VWZ0 4F61
8	D0VWZ0 4HNA P33176
9	P81947 5ITZ Q9HC77
10	P81947 P81947 O00139
11	D0VWZ0 6GVM 6GVM
12	A0A6P7DY20 7Q1F 7Q1F
13	P81947 P63043 Q8NG68
14	P02550 6MZE 6MZE
15	P02550 P02550 6MZG
16	D0VWZ0 D0VWZ0 P63043 E1BQ43
17	P81947 P81947 P63043 Q8NG68 Q8NG68 Q8NG68

Downdload

Molecule viewer

Only interaction residues

#binding
partners

	>9
	8
	7
	6
	5
	4
	3
	2
	1
	0

Sequence information

MREIVHIQAG

QCGNQIGAKF

WEVISDEHGI

DPTGSYHGDS

DLQLERINVY

YNEATGNKYV

PRAILVDLEP

GTMDSVRSGP

FGQIFRPDNF

VFGQSGAGNN

100

101

WAKGHYTEGA

ELVDSVLDVV

RKESESCDCL

QGFQLTHSLG

GGTGSGMGTL

150

151

LISKIREEYP

DRIMNTFSVM

PSPKVSDTVV

EPYNATLSVH

QLVENTDETY

200

201

SIDNEALYDI

CFRTLKLTTP

TYGDLNHLVS

ATMSGVTTCL

RFPGQLNADL

250

251

RKLAVNMVPF

PRLHFFMPGF

APLTSRGSQQ

YRALTVPELT

QQMFDSKNMM

300

301

AACDPRHGRY

LTVAAIFRGR

MSMKEVDEQM

LNVQNKNSSY

FVEWIPNNVK

350

351

TAVCDIPPRG

LKMSATFIGN

STAIQELFKR

ISEQFTAMFR

RKAFLHWYTG

400

401

EGMDEMEFTE

AESNMNDLVS

EYQQYQDATA

450

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
1_MET	THR	8.3kJPN chr20:57594579 -	-	0.0001	-	-
2_ARG	GLY	ClinVar chr19:6502220 rs587776983	Pathogenic	-	-	Torsion dystonia 4\|Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805\|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
2_ARG	GLN	ClinVar chr19:6502219 rs587777467	Pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900]
2_ARG	LYS	ClinVar chr10:95174 rs869025273	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
2_ARG	TRP	ClinVar chr19:6502220 rs587776983	Pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900]
2_ARG	SER	ClinVar chr6:3227774 rs1581526962	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7\|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573\|MedGen:CN517202]
2_ARG	LEU	ClinVar chr6:3157693 rs1581499166	Likely pathogenic	-	-	not provided [MedGen:C3661900]
2_ARG	HIS	ClinVar chr6:3227773 rs2113820430	Likely pathogenic	-	-	not provided [MedGen:C3661900]
4_ILE	LEU	ClinVar chr10:95169 rs199817418	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
5_VAL	ILE	gnomAD chr20:57594590 rs145280665	-	0.000274463	-	-
7_ILE	PHE	8.3kJPN chr6:3227759 -	-	0.0001	-	-
7_LEU	VAL	8.3kJPN chr9:140135831 -	-	0.0005	-	-
9_ALA	SER	gnomAD chr18:12308316 rs202128106	-	0.000175152	-	-
9_ALA	VAL	gnomAD chr18:12308317 rs200294113	-	0.0001754	-	-
11_GLN	HIS	ClinVar chr6:3227745 rs1135401758	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7\|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573\|MedGen:CN517202]
14_ASN	LYS	8.3kJPN chr20:57594619 -	-	0.0001	-	-
15_GLN	LYS	ClinVar chr6:30688326 rs864321676	Pathogenic	-	-	Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
15_GLN	HIS	ClinVar chr6:30688328 rs1776147010	Likely pathogenic	-	-	Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
19_LYS	GLN	ClinVar chr6:3227723 rs1057517932	Likely pathogenic	-	-	not provided [MedGen:CN517202]
26_ASP	HIS	ClinVar chr9:140136191 rs2131433122	Likely pathogenic	-	-	not provided [MedGen:C3661900]
31_ASP	ASN	8.3kJPN chr6:3156353 rs771723744	-	0.0001	-	-
31_ASP	GLY	8.3kJPN chr18:12308720 -	-	0.0001	-	-
32_PRO	LEU	8.3kJPN chr9:140136210 -	-	0.0001	-	-
32_PRO	THR	8.3kJPN chr16:89999015 -	-	0.0001	-	-
35_THR	SER	8.3kJPN chr9:140136218 -	-	0.0001	-	-
38_GLY	ARG	gnomAD chr20:57597954 rs144337011	-	0.0017065	-	-
38_GLY	ARG	8.3kJPN chr20:57597954 rs144337011	-	0.0286	-	-
39_ASP	ASN	8.3kJPN chr16:89999036 rs761851735	-	0.0001	-	-
40_SER	LEU	8.3kJPN chr20:57597961 rs370292051	-	0.0001	-	-
42_LEU	VAL	gnomAD chr10:94786 rs536693166	-	0.000112269	-	-
42_LEU	VAL	8.3kJPN chr10:94786 rs536693166	-	0.0057	-	-
45_GLN	PRO	gnomAD chr20:57597970 rs463312	-	0.0767618	-	-
45_GLN	HIS	gnomAD chr20:57597971 rs415064	-	0.0767367	-	-
45_GLN	PRO	8.3kJPN chr10:94782 -	-	0.0001	-	-
45_GLN	PRO	8.3kJPN chr20:57597970 rs463312	-	0.0784	-	-
45_GLN	HIS	8.3kJPN chr20:57597971 rs415064	-	0.0784	-	-
48_ARG	CYS	ClinVar chr10:94774 rs1834414619	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
49_ILE	VAL	ClinVar chr6:30690395 rs1776361528	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
50_ASN	LYS	8.3kJPN chr6:3156300 -	-	0.0002	-	-
50_SER	GLY	8.3kJPN chr20:57597984 -	-	0.0001	-	-
51_VAL	MET	8.3kJPN chr20:57597987 rs368009095	-	0.0001	-	-
52_TYR	HIS	ClinVar chr6:3156296 rs1762626709	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
54_ASN	SER	ClinVar chr6:30690411 -	Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 6 [MedGen:C3661900\|MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
62_VAL	LEU	ClinVar chr16:89999887 rs2151092282	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
71_GLU	GLN	ClinVar chr6:3226465 rs1554126964	Likely pathogenic	-	-	not provided [MedGen:CN517202]
73_GLY	ARG	ClinVar chr16:89999920 rs864321715	Pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement\|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:C3661900]
73_GLY	ALA	ClinVar chr16:89999921 rs2151092293	Likely pathogenic	-	-	not provided [MedGen:C3661900]
73_GLY	SER	ClinVar chr19:6501364 -	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
78_VAL	MET	8.3kJPN chr18:12311001 rs11548175	-	0.0001	-	-
79_ARG	TER	ClinVar chr20:57598607 rs767380935	Likely pathogenic	-	-	Macrothrombocytopenia\|not provided [Human Phenotype Ontology:HP:0040185,MedGen:C2751260\|MedGen:CN517202]
79_ARG	SER	8.3kJPN chr19:6501346 -	-	0.0001	-	-
79_ARG	TER	8.3kJPN chr20:57598607 rs767380935	-	0.0001	-	-
80_SER	LEU	gnomAD chr10:94599 rs140792516	-	0.000332183	-	-
82_PRO	LEU	8.3kJPN chr10:94593 rs1554738799	-	0.0017	-	-
87_PHE	LEU	8.3kJPN chr10:94579 rs1335517436	-	0.0062	-	-
88_ARG	GLN	gnomAD chr18:12311032 rs143181795	-	0.000115605	-	-
88_ARG	GLN	8.3kJPN chr18:12311032 rs143181795	-	0.0001	-	-
89_PRO	LEU	ClinVar chr6:30690788 -	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
94_PHE	LEU	8.3kJPN chr10:94556 rs782710819	-	0.0001	-	-
98_GLY	ARG	ClinVar chr19:6496224 rs1131691696	Pathogenic/Likely pathogenic	-	-	not provided\|Hypomyelinating leukodystrophy 6\|Hypomyelinating leukodystrophy 6 [MedGen:C3661900\|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]; Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
98_GLY	GLU	ClinVar chr6:3226036 -	Pathogenic	-	-	not provided [MedGen:C3661900]
100_GLY	ARG	ClinVar chr6:3155143 rs1064795334	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900\|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
100_GLY	ARG	ClinVar chr19:6496218 rs1255699601	Likely pathogenic	-	-	not provided [MedGen:C3661900]
100_GLY	ARG	ClinVar chr6:3155143 rs1064795334	Pathogenic/Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 5\|TUBB2A-related condition [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763\|]
100_GLY	ARG	ClinVar chr10:94040 rs1339474843	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
100_GLY	VAL	ClinVar chr6:3155142 rs2113785712	Likely pathogenic	-	-	Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
100_GLY	ARG	8.3kJPN chr10:94040 rs1339474843	-	0.0001	-	-
101_ASN	LYS	ClinVar chr20:57598779 rs1601238563	Likely pathogenic	-	-	Macrothrombocytopenia [Human Phenotype Ontology:HP:0040185,MedGen:C2751260]
101_ASN	SER	ClinVar chr6:3155139 rs2113785705	Pathogenic	-	-	not provided [MedGen:C3661900]
102_ASN	TYR	ClinVar chr6:3226025 rs1757279879	Likely pathogenic	-	-	Lissencephaly [Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
102_ASN	SER	gnomAD chr10:94033 rs561705922	-	0.0002111	-	-
103_TRP	SER	gnomAD chr10:94030 rs151304401	-	0.000450002	-	-
105_LYS	GLU	gnomAD chr10:94025 rs143154682	-	0.00935482	-	-
107_HIS	ASN	ClinVar chr16:90001172 -	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
107_HIS	ARG	gnomAD chr10:94018 rs9329307	-	0.012623	-	-
107_HIS	ARG	8.3kJPN chr10:94018 rs9329307	-	0.1792	-	-
108_TYR	TER	ClinVar chr20:57598800 rs560702757	Pathogenic	-	-	Congenital hypothyroidism [Human Phenotype Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442]
108_TYR	ASP	ClinVar chr6:30691155 rs2127749078	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]; Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
110_GLU	LYS	ClinVar chr6:30691161 rs1057518412	Likely pathogenic	-	-	not provided [MedGen:CN517202]
110_GLU	LYS	8.3kJPN chr10:94010 rs541770879	-	0.0001	-	-
111_GLY	GLU	gnomAD chr20:57598808 rs41303899	-	0.000870858	-	-
111_GLY	VAL	8.3kJPN chr10:94006 rs368995010	-	0.1298	-	-
112_ALA	THR	gnomAD chr10:94004 rs145405488	-	0.000252378	-	-
112_ALA	THR	8.3kJPN chr10:94004 rs145405488	-	0.0002	-	-
113_GLU	LYS	ClinVar chr6:30691170 -	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
115_MET	THR	8.3kJPN chr10:93994 rs61839058	-	0.0011	-	-
116_GLU	LYS	gnomAD chr20:57598822 rs200931731	-	0.000170993	-	-
117_ALA	THR	8.3kJPN chr19:6496167 rs1399440240	-	0.0001	-	-
119_LEU	PRO	ClinVar chr6:3225973 rs397514569	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7\|not provided [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573\|MedGen:CN517202]
121_VAL	ILE	8.3kJPN chr10:93977 rs147863681	-	0.0001	-	-
123_ARG	TRP	ClinVar chr6:30691200 rs772730239	Likely pathogenic	-	-	not provided [MedGen:C3661900]
124_LYS	THR	ClinVar chr6:3155070 rs1762604801	Pathogenic	-	-	not provided [MedGen:C3661900]
125_GLU	LYS	ClinVar chr10:93965 rs562343372	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
128_SER	ASN	8.3kJPN chr10:93955 -	-	0.0002	-	-
131_CYS	TRP	8.3kJPN chr19:6496123 -	-	0.0001	-	-
132_LEU	PRO	gnomAD chr10:93943 rs144740103	-	0.001083	-	-
132_LEU	VAL	gnomAD chr20:57598870 rs202177647	-	0.000445392	-	-
134_GLY	SER	ClinVar chr6:3155041 rs1064795249	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 5 [MedGen:CN517202\|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
134_GLY	CYS	ClinVar chr10:93938 rs782492611	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
136_GLN	LEU	ClinVar chr6:3155034 rs2113785613	Likely pathogenic	-	-	not provided [MedGen:C3661900]
136_GLN	HIS	gnomAD chr10:93930 rs9329306	-	0.00367499	-	-
138_VAL	ILE	8.3kJPN chr20:57598888 rs62639976	-	0.0001	-	-
143_GLY	ALA	ClinVar chr10:93910 rs1834382153	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
144_GLY	SER	ClinVar chr16:90001283 rs1131691895	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 1\|Brain malformation [MedGen:C3661900\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570\|MedGen:C0266449,Orphanet:199633]; Congenital fibrosis of extraocular muscles [Human Phenotype Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358]
144_GLY	CYS	ClinVar chr6:30691263 rs1776430407	Likely pathogenic	-	-	not provided [MedGen:CN517202]
144_GLY	CYS	8.3kJPN chr20:57598906 -	-	0.0001	-	-
151_THR	PRO	8.3kJPN chr20:57598927 -	-	0.0004	-	-
152_LEU	PHE	ClinVar chr6:30691287 rs1581668624	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
154_LEU	ILE	8.3kJPN chr10:93878 rs782796368	-	0.0006	-	-
158_ARG	LEU	ClinVar chr19:6496043 rs587777429	Pathogenic/Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6\|Inborn genetic diseases [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MeSH:D030342,MedGen:C0950123]
158_ARG	HIS	8.3kJPN chr18:12325255 rs764937874	-	0.0001	-	-
167_ASN	ASP	ClinVar chr19:6496017 -	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
167_ASN	LYS	8.3kJPN chr20:57598977 -	-	0.0001	-	-
171_ILE	VAL	gnomAD chr10:93827 rs142619172	-	0.00048972	-	-
171_VAL	ILE	gnomAD chr18:12325293 rs146684823	-	0.000103385	-	-
171_ILE	VAL	8.3kJPN chr10:93827 rs142619172	-	0.011	-	-
171_VAL	ILE	8.3kJPN chr20:57598987 rs764400206	-	0.0002	-	-
172_MET	ILE	ClinVar chr6:3225813 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
174_SER	PRO	ClinVar chr6:3225809 rs137853194	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
174_SER	LEU	ClinVar chr6:3225808 rs1554126925	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
175_PRO	LEU	ClinVar chr6:3154917 rs2113785529	Likely pathogenic	-	-	not provided [MedGen:C3661900]
176_LYS	ARG	8.3kJPN chr9:140137191 -	-	0.0001	-	-
177_VAL	LEU	ClinVar chr16:90001382 rs1555625571	Pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
178_SER	LEU	ClinVar chr10:93805 rs869025609	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
178_SER	PRO	ClinVar chr6:3225797 rs1757277674	Likely pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
180_THR	ARG	ClinVar chr19:6495977 rs587777468	Pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
180_THR	MET	ClinVar chr6:3154902 rs886039447	Pathogenic/Likely pathogenic	-	-	not provided [MedGen:C3661900]
180_THR	MET	ClinVar chr16:90001392 rs747480526	Pathogenic/Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1\|not provided\|Inborn genetic diseases [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123]
180_THR	MET	ClinVar chr19:6495977 rs587777468	Pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided\|Torsion dystonia 4 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:CN517202\|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
180_THR	SER	ClinVar chr6:30691372 rs1057520046	Likely pathogenic	-	-	not provided [MedGen:CN517202]
181_VAL	LEU	ClinVar chr19:6495975 rs1057517986	Pathogenic	-	-	not provided [MedGen:CN517202]
181_VAL	MET	ClinVar chr10:93797 rs782262099	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
181_VAL	LEU	ClinVar chr16:90001394 rs2151092804	Likely pathogenic	-	-	Abnormal cerebral morphology [Human Phenotype Ontology:HP:0002060,MedGen:C4021762]
181_VAL	MET	8.3kJPN chr10:93797 rs782262099	-	0.0023	-	-
182_VAL	ALA	ClinVar chr10:93793 rs1834375618	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
182_VAL	ALA	ClinVar chr19:6495971 rs2145245505	Likely pathogenic	-	-	not provided [MedGen:C3661900]
184_PRO	SER	ClinVar chr10:93788 rs1834375493	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
184_PRO	SER	ClinVar chr19:6495966 rs886041008	Likely pathogenic	-	-	Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
186_ASN	ASP	ClinVar chr10:93782 rs782588770	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
186_ASN	LYS	8.3kJPN chr6:3154883 rs199973851	-	0.0005	-	-
186_ASN	LYS	8.3kJPN chr6:3225771 rs1323796901	-	0.0007	-	-
187_ALA	THR	gnomAD chr6:3225770 rs146544321	-	0.00240633	-	-
187_ALA	VAL	gnomAD chr10:93778 rs782272071	-	0.000561668	-	-
187_ALA	THR	8.3kJPN chr6:3154882 rs76334433	-	0.0119	-	-
187_ALA	THR	8.3kJPN chr6:3225770 rs146544321	-	0.0514	-	-
187_ALA	VAL	8.3kJPN chr10:93778 rs782272071	-	0.0011	-	-
192_HIS	TYR	ClinVar chr19:6495942 rs761635539	Pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
194_LEU	MET	8.3kJPN chr20:57599056 -	-	0.0003	-	-
195_VAL	MET	ClinVar chr16:90001436 rs2030404834	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
195_ILE	THR	gnomAD chr20:57599060 rs141698221	-	0.000155075	-	-
195_ILE	THR	8.3kJPN chr20:57599060 rs141698221	-	0.0001	-	-
196_GLU	LYS	ClinVar chr6:3154855 rs1554122959	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 5 [MedGen:CN517202\|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
196_GLU	ASP	8.3kJPN chr20:57599064 rs186106638	-	0.0018	-	-
199_ASP	GLU	8.3kJPN chr18:12325379 -	-	0.0001	-	-
200_GLU	ASP	ClinVar chr10:93738 rs1834373127	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
203_CYS	PHE	ClinVar chr6:3225721 rs201922441	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
203_SER	CYS	8.3kJPN chr6:3154833 rs1054331	-	0.0002	-	-
203_CYS	SER	8.3kJPN chr6:3225721 rs201922441	-	0.0001	-	-
203_CYS	ARG	8.3kJPN chr10:93731 rs782282554	-	0.0001	-	-
203_CYS	SER	8.3kJPN chr19:6495909 -	-	0.0001	-	-
206_ASN	ILE	ClinVar chr6:3225712 rs1757276859	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
207_GLU	LYS	ClinVar chr16:90001472 rs878853257	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1\|not provided [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570\|MedGen:C3661900]
207_GLU	ALA	ClinVar chr16:90001473 rs1057518593	Likely pathogenic	-	-	not provided [MedGen:CN517202]
207_GLU	LYS	ClinVar chr10:93719 rs1554738360	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
207_GLU	ASP	ClinVar chr6:3154820 rs2113785454	Pathogenic	-	-	not provided [MedGen:C3661900]
210_TYR	TER	ClinVar chr20:57599106 rs2146377060	Pathogenic	-	-	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050]
211_ASP	GLU	8.3kJPN chr9:140137297 -	-	0.0001	-	-
212_ILE	ASN	ClinVar chr6:3225694 rs1561826759	Likely pathogenic	-	-	not provided [MedGen:C3661900]
212_ILE	LYS	ClinVar chr10:93703 rs1834371028	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
213_CYS	TYR	ClinVar chr6:3225691 -	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
215_ARG	HIS	gnomAD chr20:57599120 rs62639975	-	0.000262442	-	-
215_LYS	ARG	8.3kJPN chr10:93694 rs144539776	-	0.0883	-	-
215_ARG	HIS	8.3kJPN chr20:57599120 rs62639975	-	0.0001	-	-
216_THR	ILE	8.3kJPN chr10:93691 rs782312790	-	0.0001	-	-
218_LYS	ARG	ClinVar chr6:30691486 rs1059145	Likely pathogenic	-	-	not provided [MedGen:CN517202]
220_THR	MET	8.3kJPN chr20:57599135 rs539171911	-	0.0001	-	-
223_THR	ILE	ClinVar chr6:30691501 rs878853162	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
224_TYR	PHE	ClinVar chr6:30691504 rs864321677	Pathogenic	-	-	Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
225_GLY	ARG	8.3kJPN chr18:12325455 rs776501959	-	0.0013	-	-
226_ASP	TYR	ClinVar chr6:30691509 -	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
227_LEU	PHE	ClinVar chr6:3225650 rs2113819161	Likely pathogenic	-	-	not provided [MedGen:C3661900]
230_LEU	PRO	ClinVar chr6:3225640 rs137853195	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
230_LEU	VAL	ClinVar chr6:30691521 rs1057524718	Likely pathogenic	-	-	not provided [MedGen:CN517202]
230_LEU	ILE	ClinVar chr6:30691521 rs1057524718	Likely pathogenic	-	-	not provided [MedGen:C3661900]
230_LEU	PRO	ClinVar chr16:90001542 -	Pathogenic	-	-	not provided [MedGen:CN517202]
231_VAL	ALA	ClinVar chr10:93646 rs869025271	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
231_VAL	ALA	ClinVar chr19:6495824 rs1568409626	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
232_SER	LEU	ClinVar chr16:90001548 rs886041459	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 1 [MedGen:C3661900\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
232_SER	LEU	ClinVar chr6:3154746 -	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900\|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
235_MET	VAL	gnomAD chr10:93635 rs200242637	-	0.0125805	-	-
235_MET	VAL	8.3kJPN chr10:93635 rs200242637	-	0.0823	-	-
237_GLY	ARG	gnomAD chr6:3225620 rs587784500	-	0.00506778	-	-
239_THR	PRO	gnomAD chr9:140137379 rs754631743	-	0.000439224	-	-
240_THR	MET	ClinVar chr10:93619 rs1057520306	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
241_CYS	PHE	ClinVar chr6:3225607 rs878853284	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
241_SER	PHE	ClinVar chr16:90001575 rs1555625589	Likely pathogenic	-	-	not provided [MedGen:CN517202]
243_ARG	HIS	ClinVar chr6:3225601 rs1064794314	Likely pathogenic	-	-	not provided [MedGen:CN517202]
243_ARG	HIS	ClinVar chr10:93610 rs782631950	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
244_PHE	LEU	ClinVar chr6:3154711 rs1554122948	Likely pathogenic	-	-	not provided [MedGen:CN517202]
244_PHE	LEU	ClinVar chr20:57599208 rs890185415	Likely pathogenic	-	-	Macrothrombocytopenia, isolated, 1, autosomal dominant [MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957]
245_PRO	LEU	ClinVar chr10:93604 rs1834366416	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
245_PRO	ARG	ClinVar chr16:90001587 rs587784506	Likely pathogenic	-	-	not provided [MedGen:C3661900]
246_GLY	VAL	ClinVar chr19:6495779 rs886041010	Pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:CN517202]
246_GLY	SER	ClinVar chr19:6495780 rs886041007	Pathogenic/Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900]
246_GLY	ALA	ClinVar chr6:3154704 rs1057521918	Likely pathogenic	-	-	not provided [MedGen:CN517202]
246_GLY	ARG	ClinVar chr19:6495780 rs886041007	Pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
246_GLY	SER	ClinVar chr6:3225593 rs2113819124	Pathogenic	-	-	not provided [MedGen:C3661900]
247_GLN	HIS	ClinVar chr10:93597 rs1588270347	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
248_LEU	MET	ClinVar chr19:6495774 rs2145244734	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
248_LEU	PRO	ClinVar chr19:6495773 -	Pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
248_LEU	ARG	8.3kJPN chr20:57599219 -	-	0.0002	-	-
249_ASN	LYS	ClinVar chr6:3154694 rs886037663	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 5\|Congenital cerebellar hypoplasia [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763\|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246]
250_ALA	VAL	8.3kJPN chr6:3154692 rs2808001	-	0.0176	-	-
250_ALA	VAL	8.3kJPN chr6:3225580 rs777598117	-	0.0323	-	-
251_ASP	ASN	ClinVar chr19:6495765 rs483352809	Pathogenic/Likely pathogenic	-	-	Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6\|Abnormality of the nervous system\|Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552\|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900]
251_ASP	ASN	8.3kJPN chr20:57599227 -	-	0.0001	-	-
253_ARG	SER	ClinVar chr6:3225572 rs756024033	Likely pathogenic	-	-	not provided [MedGen:CN517202]
254_LYS	ARG	ClinVar chr19:6495755 -	Pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
254_LYS	ASN	gnomAD chr9:140137426 rs772154263	-	0.000230521	-	-
254_LYS	ASN	gnomAD chr10:93576 rs782788203	-	0.00445922	-	-
257_VAL	ILE	ClinVar chr19:6495747 rs767399782	Pathogenic/Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided\|Cerebral palsy\|Inborn genetic diseases\|Microcephaly [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900\|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789\|MeSH:D030342,MedGen:C0950123\|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]
257_VAL	ILE	ClinVar chr16:90001622 rs1057517908	Pathogenic/Likely pathogenic	-	-	not provided\|TUBB3-Related Disorder\|Complex cortical dysplasia with other brain malformations 1 [MedGen:C3661900\|\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
257_VAL	MET	ClinVar chr10:93569 rs782269374	Likely pathogenic	-	-	Inherited oocyte maturation defect [MONDO:MONDO:0014769,MedGen:CN238505,OMIM:PS615774]
258_ASN	SER	ClinVar chr6:3154668 -	Pathogenic	-	-	not provided [MedGen:C3661900]
261_PRO	LEU	ClinVar chr6:3225547 -	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7\|Congenital bilateral perisylvian syndrome [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573\|Human Phenotype Ontology:HP:0032407,MONDO:MONDO:0020340,MedGen:C1845668,Orphanet:98889]
262_PHE	SER	8.3kJPN chr20:57599261 rs1057517996	-	0.0013	-	-
264_ARG	CYS	ClinVar chr16:90001643 rs267607162	Pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement\|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:C3661900]
264_ARG	HIS	ClinVar chr16:90001644 rs864321716	Pathogenic/Likely pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement\|not provided\|TUBB3-related tubulinopathy\|TUBB3-related disorders [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:C3661900\|MONDO:MONDO:0100154,MedGen:CN322634\|]
264_ARG	GLN	ClinVar chr10:93547 rs869025610	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
264_ARG	HIS	ClinVar chr19:6495725 rs886039470	Pathogenic	-	-	not provided\|Hypomyelinating leukodystrophy 6\|Inborn genetic diseases [MedGen:C3661900\|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MeSH:D030342,MedGen:C0950123]
264_ARG	HIS	ClinVar chr6:3154650 -	Pathogenic	-	-	not provided [MedGen:CN517202]
264_ARG	TRP	8.3kJPN chr10:93548 rs782486119	-	0.011	-	-
267_PHE	LEU	ClinVar chr6:3225530 rs137853196	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
268_PHE	ILE	ClinVar chr19:6495714 rs2145244590	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
268_PHE	CYS	8.3kJPN chr10:93535 -	-	0.0001	-	-
271_GLY	ASP	ClinVar chr20:57599288 -	Pathogenic	-	-	Macrothrombocytopenia, isolated, 1, autosomal dominant [MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957]
272_PHE	LEU	8.3kJPN chr20:57599292 rs1389479127	-	0.0001	-	-
273_ALA	THR	ClinVar chr19:6495699 rs587777074	Pathogenic	-	-	Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
273_ALA	SER	8.3kJPN chr9:140137481 -	-	0.0001	-	-
275_LEU	VAL	ClinVar chr16:90001676 -	Likely pathogenic	-	-	See cases [-]
276_THR	MET	gnomAD chr20:57599303 rs35565630	-	0.0177679	-	-
276_THR	ILE	8.3kJPN chr16:90001680 -	-	0.0001	-	-
278_GLN	ARG	gnomAD chr20:57599309 rs144046758	-	0.00106672	-	-
278_ARG	GLN	8.3kJPN chr10:93505 rs147114528	-	0.0481	-	-
279_GLY	ALA	gnomAD chr19:6495680 rs778225925	-	0.000120441	-	-
280_SER	ARG	ClinVar chr16:90001693 rs1085308026	Likely pathogenic	-	-	not provided [MedGen:CN517202]
284_ARG	PRO	ClinVar chr16:90001704 rs1064795231	Likely pathogenic	-	-	not provided [MedGen:CN517202]
284_ARG	GLN	ClinVar chr16:90001704 rs1064795231	Likely pathogenic	-	-	not provided [MedGen:C3661900]
284_ARG	TRP	8.3kJPN chr10:93488 rs371080326	-	0.0044	-	-
287_THR	LYS	ClinVar chr19:6495656 rs552079378	Likely pathogenic	-	-	Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
289_PRO	SER	ClinVar chr6:30691698 -	Pathogenic	-	-	not provided [MedGen:C3661900]
290_GLU	LYS	ClinVar chr16:90001721 rs1057521924	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 1\|Abnormal cerebral morphology [MedGen:C3661900\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570\|Human Phenotype Ontology:HP:0002060,MedGen:C4021762]
290_GLU	ALA	ClinVar chr16:90001722 rs2030417656	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
292_THR	ILE	8.3kJPN chr20:57599351 rs762759390	-	0.0016	-	-
293_GLN	LYS	ClinVar chr6:3225452 rs1554126886	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7\|Lissencephaly [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573\|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
293_GLN	HIS	8.3kJPN chr19:6495637 -	-	0.0001	-	-
299_ARG	CYS	8.3kJPN chr20:57599371 rs752263582	-	0.0001	-	-
300_ASN	SER	ClinVar chr10:93439 rs1834359656	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
300_ASN	ILE	ClinVar chr6:3225430 rs2113819025	Likely pathogenic	-	-	not provided [MedGen:C3661900]
301_MET	VAL	ClinVar chr6:30691734 rs587777355	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6\|not provided\|Inborn genetic diseases [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123]
301_MET	ILE	ClinVar chr6:30691736 rs2127749712	Likely pathogenic	-	-	not provided [MedGen:C3661900]
302_MET	ILE	ClinVar chr10:93432 rs869025612	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
304_ALA	THR	ClinVar chr16:90001763 rs267607163	Pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement\|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:C3661900]
304_ALA	VAL	ClinVar chr16:90001764 rs878853258	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
304_ALA	THR	ClinVar chr6:3225419 rs1581525766	Likely pathogenic	-	-	not provided [MedGen:C3661900]
304_ALA	SER	ClinVar chr16:90001763 -	Pathogenic	-	-	not provided [MedGen:C3661900]
305_CYS	TYR	ClinVar chr6:3225415 rs2113819019	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
305_CYS	ARG	8.3kJPN chr10:93425 rs41304577	-	0.0169	-	-
305_CYS	TYR	8.3kJPN chr18:12325696 -	-	0.0001	-	-
306_ASP	ALA	8.3kJPN chr6:30691750 rs747201319	-	0.0016	-	-
306_ASP	ALA	8.3kJPN chr9:140137581 rs759883826	-	0.0021	-	-
308_ARG	PRO	ClinVar chr6:30691756 rs2127749740	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6\|not provided [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771\|MedGen:C3661900]
308_ARG	CYS	gnomAD chr20:57599398 rs192115302	-	0.000386171	-	-
308_ARG	HIS	8.3kJPN chr20:57599399 rs772479017	-	0.0001	-	-
309_ARG	CYS	gnomAD chr20:57599401 rs62639974	-	0.00419874	-	-
309_ARG	HIS	gnomAD chr20:57599402 rs6070697	-	0.174998	-	-
309_ARG	HIS	8.3kJPN chr20:57599402 rs6070697	-	0.1184	-	-
310_GLY	SER	ClinVar chr10:93410 rs782575307	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
311_ARG	CYS	8.3kJPN chr10:93407 rs782628556	-	0.0233	-	-
311_ARG	CYS	8.3kJPN chr20:57599407 rs768884799	-	0.0001	-	-
312_TYR	CYS	ClinVar chr16:90001788 rs2151092964	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
314_THR	ARG	ClinVar chr6:3154500 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
314_THR	ALA	gnomAD chr18:12325722 rs138139116	-	0.00130841	-	-
315_ALA	VAL	8.3kJPN chr10:93394 rs199826048	-	0.0003	-	-
316_ALA	VAL	ClinVar chr19:6495569 rs886041013	Pathogenic/Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900]
316_ALA	SER	ClinVar chr10:93392 rs781859520	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
316_ALA	ASP	ClinVar chr6:3154494 rs2113785178	Pathogenic	-	-	not provided [MedGen:C3661900]
317_CYS	TER	ClinVar chr20:57599427 rs1601239459	Likely pathogenic	-	-	Thrombocytopenia [Human Phenotype Ontology:HP:0001873,Human Phenotype Ontology:HP:0001906,Human Phenotype Ontology:HP:0004838,Human Phenotype Ontology:HP:0008175,Human Phenotype Ontology:HP:0008268,Human Phenotype Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034]
320_ARG	TRP	ClinVar chr20:57599434 rs121918555	Pathogenic/Likely pathogenic	-	-	Macrothrombocytopenia, isolated, 1, autosomal dominant\|Macrothrombocytopenia\|not provided [MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957\|Human Phenotype Ontology:HP:0040185,MedGen:C2751260\|MedGen:C3661900]
320_ARG	GLN	ClinVar chr6:3225370 rs2113819002	Likely pathogenic	-	-	not provided [MedGen:C3661900]
320_ARG	TRP	8.3kJPN chr20:57599434 rs121918555	-	0.0002	-	-
320_ARG	GLN	8.3kJPN chr20:57599435 rs370105172	-	0.0004	-	-
322_ARG	HIS	8.3kJPN chr9:140137629 rs868154988	-	0.0001	-	-
322_LYS	ARG	8.3kJPN chr20:57599441 -	-	0.0004	-	-
323_MET	VAL	ClinVar chr6:30691800 rs2127749786	Pathogenic	-	-	Abnormal brain morphology\|Complex cortical dysplasia with other brain malformations 6 [Human Phenotype Ontology:HP:0012443,MedGen:C4021085\|MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
324_SER	PHE	ClinVar chr6:3225358 rs587784502	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
325_MET	VAL	ClinVar chr16:90001826 rs878853256	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1\|not provided [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570\|MedGen:C3661900]
325_MET	LEU	ClinVar chr6:3154468 rs2113785156	Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 5 [MedGen:C3661900\|MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
325_MET	THR	ClinVar chr6:30691807 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
326_LYS	ASN	ClinVar chr6:3225351 rs2113818998	Pathogenic	-	-	not provided [MedGen:C3661900]
329_ASP	ASN	ClinVar chr6:30691818 rs1776459285	Likely pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
339_ASN	TYR	8.3kJPN chr6:3154426 -	-	0.0001	-	-
342_TYR	CYS	8.3kJPN chr6:30691858 rs1392325125	-	0.0001	-	-
343_PHE	LEU	ClinVar chr19:6495489 rs1914104455	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
344_VAL	MET	ClinVar chr16:90001883 rs1210717639	Likely pathogenic	-	-	Spastic ataxia [Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226]
347_ILE	PHE	ClinVar chr6:3154402 rs797046074	Pathogenic/Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 5\|TUBB2A-related tubulinopathy [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763\|MONDO:MONDO:0700044,MedGen:CN322834]
351_VAL	ILE	gnomAD chr20:57599527 rs115253190	-	0.00181744	-	-
351_VAL	ILE	8.3kJPN chr10:93287 rs572455524	-	0.0044	-	-
352_LYS	THR	ClinVar chr19:6495461 rs1914101190	Likely pathogenic	-	-	not provided [MedGen:C3661900]
353_THR	MET	ClinVar chr6:3154383 -	Pathogenic	-	-	not provided [MedGen:CN517202]
354_ALA	SER	ClinVar chr19:6495456 rs886041015	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
355_VAL	ILE	ClinVar chr6:30691896 rs587777356	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
356_CYS	TRP	ClinVar chr19:6495448 rs748787734	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:CN517202]
357_ASP	GLU	ClinVar chr19:6495445 rs1599405952	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
359_PRO	LEU	ClinVar chr6:3225253 rs1581525728	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
359_PRO	LEU	ClinVar chr6:3154365 rs2113785083	Pathogenic	-	-	not provided\|Abnormal cerebral morphology [MedGen:C3661900\|Human Phenotype Ontology:HP:0002060,MedGen:C4021762]
359_PRO	LEU	8.3kJPN chr20:57599552 rs200564118	-	0.0001	-	-
360_PRO	LEU	ClinVar chr10:93259 rs1588269791	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
360_PRO	LEU	ClinVar chr6:3154362 rs1762593142	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
360_PRO	THR	ClinVar chr6:3154363 rs2113785077	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
369_ARG	TRP	gnomAD chr10:93257 rs147880041	-	0.000555223	-	-
369_ARG	TRP	gnomAD chr20:57599557 rs140943896	-	0.00658266	-	-
371_LEU	ILE	ClinVar chr16:90001940 rs1064794940	Likely pathogenic	-	-	not provided [MedGen:CN517202]
371_LEU	PHE	ClinVar chr6:30691920 rs2127749978	Likely pathogenic	-	-	Ventriculomegaly [Human Phenotype Ontology:HP:0002119,Human Phenotype Ontology:HP:0002447,Human Phenotype Ontology:HP:0005691,Human Phenotype Ontology:HP:0007071,MedGen:C3278923]; Hypoplasia of the corpus callosum [Human Phenotype Ontology:HP:0002079,Human Phenotype Ontology:HP:0002319,Human Phenotype Ontology:HP:0007026,MedGen:C0344482]
373_MET	THR	ClinVar chr10:93244 rs869025611	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
373_MET	ARG	ClinVar chr6:3154347 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
377_PHE	LEU	ClinVar chr19:6495411 rs886041018	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
379_GLY	TRP	8.3kJPN chr10:93227 -	-	0.0001	-	-
387_LEU	PRO	ClinVar chr10:93202 rs1834351540	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
388_PHE	LEU	8.3kJPN chr18:12325920 -	-	0.0001	-	-
390_ARG	LEU	ClinVar chr6:3225184 rs587784498	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
390_ARG	CYS	ClinVar chr16:90001997 rs864321717	Pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement\|not provided\|Inborn genetic diseases\|Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
390_ARG	HIS	ClinVar chr10:93193 rs1554738022	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
390_ARG	CYS	ClinVar chr6:3225185 rs1757271243	Pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 7 [MedGen:C3661900\|MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
390_ARG	PRO	ClinVar chr16:90001998 rs777149755	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
390_ARG	SER	ClinVar chr16:90001997 -	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1 [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570]
394_GLN	HIS	8.3kJPN chr6:30691991 -	-	0.0001	-	-
398_MET	ILE	ClinVar chr19:6495346 rs797045074	Pathogenic/Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
398_MET	VAL	ClinVar chr16:90002021 rs878853279	Pathogenic/Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 1\|not provided [MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570\|MedGen:C3661900]
398_MET	ILE	ClinVar chr19:6495346 rs797045074	Pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided\|6 conditions [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900\|6 conditions]
398_MET	VAL	ClinVar chr19:6495348 rs886041019	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900]
398_MET	THR	ClinVar chr10:93169 rs1834350042	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
398_MET	THR	ClinVar chr16:90002022 rs2030427823	Likely pathogenic	-	-	Lissencephaly [Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
398_MET	LEU	ClinVar chr6:3225161 rs2113818913	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
400_ARG	TRP	8.3kJPN chr18:12325956 rs770131649	-	0.0001	-	-
401_ARG	LEU	ClinVar chr16:90002031 rs886039497	Pathogenic	-	-	not provided [MedGen:CN517202]
401_ARG	HIS	ClinVar chr19:6495338 rs886041021	Pathogenic	-	-	Hypomyelinating leukodystrophy 6\|not provided\|Torsion dystonia 4 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MedGen:C3661900\|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]
401_ARG	HIS	ClinVar chr9:140137842 rs1554786803	Pathogenic/Likely pathogenic	-	-	Leber congenital amaurosis with early-onset deafness\|not provided [MONDO:MONDO:0060650,MedGen:C4693498,OMIM:617879\|MedGen:CN517202]
401_ARG	HIS	ClinVar chr6:3225151 rs1581525683	Pathogenic/Likely pathogenic	-	-	not provided\|Complex cortical dysplasia with other brain malformations 7 [MedGen:C3661900\|MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
401_ARG	HIS	ClinVar chr10:93160 rs1834349844	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
401_ARG	HIS	ClinVar chr16:90002031 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
401_ARG	CYS	ClinVar chr6:3225152 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
403_ALA	VAL	ClinVar chr6:3154257 rs1581496351	Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 5 [MONDO:MONDO:0014337,MedGen:C3810407,OMIM:615763]
403_ALA	ASP	ClinVar chr10:93154 rs1834349710	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
403_ALA	VAL	ClinVar chr19:6495332 rs1914085591	Likely pathogenic	-	-	not provided [MedGen:C3661900]
404_PHE	SER	ClinVar chr18:12325969 rs1555669248	Pathogenic	-	-	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction [MONDO:MONDO:0060589,MedGen:C4540277,OMIM:617732]
404_PHE	SER	ClinVar chr19:6495329 rs886041022	Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441]; Torsion dystonia 4 [MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]
406_HIS	ARG	8.3kJPN chr10:93145 -	-	0.0001	-	-
407_TRP	ARG	ClinVar chr6:3225134 rs1057520787	Likely pathogenic	-	-	not provided [MedGen:CN517202]
407_TRP	GLY	ClinVar chr10:93143 rs1834349280	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
411_GLU	LYS	ClinVar chr6:30692040 rs587777357	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6\|Inborn genetic diseases\|Multiple benign circumferential skin creases on limbs 1 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020738,MedGen:C4551592,OMIM:156610]
411_GLU	GLN	8.3kJPN chr6:3225122 -	-	0.0001	-	-
413_MET	ILE	ClinVar chr16:90002068 rs1131691632	Likely pathogenic	-	-	not provided [MedGen:CN517202]
414_ASP	GLU	8.3kJPN chr10:93120 -	-	0.0009	-	-
415_GLU	ALA	8.3kJPN chr6:3225109 -	-	0.0001	-	-
420_GLU	LYS	ClinVar chr16:90002087 rs267607165	Pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement\|Complex cortical dysplasia with other brain malformations 1\|TUBB3-Releated Disorders\|not provided\|TUBB3-related condition [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039,Orphanet:300570\|\|MedGen:C3661900\|]
420_GLU	LYS	ClinVar chr19:6495282 rs587777428	Pathogenic/Likely pathogenic	-	-	Hypomyelinating leukodystrophy 6\|Torsion dystonia 4 [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805]; Hypomyelinating leukodystrophy 6\|Torsion dystonia 4\|Cerebral palsy\|not provided\|Global developmental delay [MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438,Orphanet:139441\|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101,Orphanet:98805\|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789\|MedGen:C3661900\|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]
420_GLU	ASP	ClinVar chr6:30692069 rs1085307486	Likely pathogenic	-	-	not provided [MedGen:CN517202]
420_GLU	LYS	ClinVar chr6:3154207 rs1762591034	Likely pathogenic	-	-	not provided [MedGen:CN517202]
420_GLU	LYS	ClinVar chr6:3225095 rs2113818881	Pathogenic/Likely pathogenic	-	-	not provided [MedGen:C3661900]
420_GLU	LYS	8.3kJPN chr10:93104 -	-	0.0007	-	-
420_GLU	LYS	8.3kJPN chr18:12326016 -	-	0.0001	-	-
424_ASN	HIS	ClinVar chr6:3154195 rs1057518044	Likely pathogenic	-	-	not provided [MedGen:CN517202]
424_ASN	LYS	ClinVar chr10:93090 rs1834347552	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
424_ASN	TYR	ClinVar chr19:6495270 rs1914081211	Likely pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
426_ASN	SER	ClinVar chr6:3154188 rs1561805651	Likely pathogenic	-	-	not provided [MedGen:C3661900]
427_ASP	HIS	ClinVar chr16:90002108 rs267607164	Pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638]
427_ASP	ASN	ClinVar chr16:90002108 rs267607164	Pathogenic	-	-	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement\|not provided [MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:C3661900]
427_ASP	ASN	ClinVar chr6:3225074 rs397514567	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7 [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573]
427_ASP	ASN	ClinVar chr10:93083 rs869025272	Pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
427_ASP	ASN	ClinVar chr6:3154186 -	Pathogenic	-	-	not provided [MedGen:C3661900]
431_GLU	LYS	ClinVar chr6:3225062 rs398122369	Pathogenic/Likely pathogenic	-	-	Complex cortical dysplasia with other brain malformations 7\|Lissencephaly [MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573\|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
431_GLU	LYS	ClinVar chr6:30692100 -	Pathogenic	-	-	Complex cortical dysplasia with other brain malformations 6 [MONDO:MONDO:0014341,MedGen:C4014283,OMIM:615771]
434_GLN	ARG	ClinVar chr10:93061 rs1834346707	Likely pathogenic	-	-	Oocyte maturation defect 2 [MONDO:MONDO:0021573,MedGen:C4225210,OMIM:616780]
434_GLN	TER	8.3kJPN chr10:93062 rs1356357815	-	0.0001	-	-
439_THR	PRO	8.3kJPN chr6:3225038 -	-	0.0002	-	-
441_GLU	LYS	gnomAD chr10:93041 rs540119672	-	0.000183435	-	-
441_GLU	LYS	8.3kJPN chr16:90002150 rs964422136	-	0.0001	-	-

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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

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Variants

Reference

	P81947	Tubulin alpha-1B chain
	5EIB	Designed ankyrin repeat protein

	D0VWZ0	Tubulin alpha chain
	D0VWZ0	Tubulin alpha chain
	4F61	Stathmin-like domain R4

	D0VWZ0	Tubulin alpha chain
	4HNA	DESIGNED ANKYRIN REPEAT PROTEIN (DARPIN) D2
	P33176	Kinesin-1 heavy chain

	P81947	Tubulin alpha-1B chain
	5ITZ	Designed ankyrin repeat protein (DARPIN) D1
	Q9HC77	Centromere protein J

	D0VWZ0	Tubulin alpha chain
	6GVM	F3II DARPIN
	6GVM	STATHMIN-LIKE DOMAIN R1

	A0A6P7DY20	Tubulin alpha chain
	7Q1F	Centromere protein J
	7Q1F	IE5 ALPHAREP

	P81947	Tubulin alpha-1B chain
	P63043	Stathmin-4
	Q8NG68	Tubulin--tyrosine ligase

	P02550	Tubulin alpha-1A chain
	6MZE	Designed ankyrin repeat protein (DARPIN) D1
	6MZE	Protein Stu2p/Alp14p

	6GWD	ALPHA-TUBULIN
	6GWD	ALPHA-TUBULIN