TBCD — 1335 ClinVar variants

All ClinVar germline TBCD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 306 flagged for review →

48 Pathogenic · 11 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 48 Conflicting · 97 Benign · 21 Benign/Likely benign · 760 Likely benign · 318 Uncertain significance

Full TBCD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 306

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TBCD p.Arg772Cys Pathogenic/Likely pathogenic Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.His77Arg Pathogenic/Likely pathogenic Multiple submitters
TBCD-related disorder
TBCD p.Arg294Gln Likely pathogenic Single submitter
TBCD p.Asn1033Lys Likely pathogenic Single submitter
TBCD p.Pro937Arg Pathogenic No assertion criteria
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Predictors agree, ClinVar conflicts 26

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TBCD p.Ala181Pro Conflicting Single submitter
Inborn genetic diseases
TBCD p.Ala447Val Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Arg1173His Conflicting Single submitter
intellectual disability
TBCD p.Arg238His Conflicting Single submitter
Inborn genetic diseases
TBCD p.Arg294Trp Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Arg580Gln Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Arg790Gln Conflicting Single submitter
Inborn genetic diseases
TBCD p.Arg888Gln Conflicting Single submitter
Inborn genetic diseases
TBCD p.Arg968His Conflicting Single submitter
Inborn genetic diseases
TBCD p.Asp1104Asn Conflicting Single submitter
Inborn genetic diseases
TBCD p.Asp353Asn Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Glu1007Ala Conflicting Single submitter
TBCD p.Glu747Lys Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Glu807Lys Conflicting Single submitter
Inborn genetic diseases
TBCD p.Gly10Asp Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Gly1103Ser Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.His713Tyr Conflicting Single submitter
Inborn genetic diseases
TBCD p.Ile185Val Conflicting Single submitter
Inborn genetic diseases
TBCD p.Ile622Val Conflicting Single submitter
Inborn genetic diseases
TBCD p.Leu292Val Conflicting Single submitter
TBCD-related disorder
TBCD p.Met856Val Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Met880Leu Conflicting Single submitter
Inborn genetic diseases
TBCD p.Ser776Leu Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Thr1046Met Conflicting Single submitter
TBCD p.Thr861Met Conflicting Single submitter
Inborn genetic diseases
TBCD p.Val376Met Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Predictors lean, ClinVar uncertain 204

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 204

TBCD p.Ala1093Thr Uncertain significance Multiple submitters
TBCD-related disorder
TBCD p.Ala1159Val Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ala1162Val Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ala273Val Uncertain significance Multiple submitters
TBCD p.Ala394Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ala599Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ala626Ser Uncertain significance Multiple submitters
TBCD p.Ala907Val Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Arg1107Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Arg1171Leu Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Arg150His Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Arg238Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Arg266Cys Uncertain significance Multiple submitters
TBCD p.Arg942Gln Uncertain significance Multiple submitters
TBCD p.Asn1033Ser Uncertain significance Multiple submitters
TBCD p.Asn235Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Asp281Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Asp953Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Cys850Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gln1003Arg Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Gln334Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gln638Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gln660Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gln908Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Glu28Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Glu596Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gly1054Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gly31Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gly357Arg Uncertain significance Multiple submitters
TBCD p.His574Tyr Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.His72Tyr Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.His897Arg Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ile530Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Leu229Arg Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Leu331Val Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Leu445Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Met250Val Uncertain significance Multiple submitters
TBCD p.Met609Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Pro218Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Pro311Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Pro392Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Pro745Leu Uncertain significance Multiple submitters
TBCD p.Pro962Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ser1130Asn Uncertain significance Multiple submitters
TBCD p.Ser1156Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ser718Leu Uncertain significance Multiple submitters
TBCD p.Ser810Thr Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ser956Phe Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Thr110Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Thr644Met Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Val1142Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Val1180Ile Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Val209Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Val643Ile Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Val924Met Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Val982Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ala102Pro Uncertain significance Single submitter
TBCD p.Ala1145Thr Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala127Pro Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala127Thr Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala273Thr Uncertain significance Single submitter
TBCD p.Ala2Val Uncertain significance Single submitter
TBCD p.Ala315Val Uncertain significance Single submitter
TBCD p.Ala442Thr Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ala467Thr Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ala498Val Uncertain significance Single submitter
TBCD p.Ala599Val Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala626Val Uncertain significance Single submitter
TBCD p.Ala636Ser Uncertain significance Single submitter
TBCD p.Ala821Val Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ala823Glu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala835Gly Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala851Val Uncertain significance Single submitter
TBCD p.Ala887Val Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala922Thr Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ala961Val Uncertain significance Single submitter
TBCD p.Arg120Gly Uncertain significance Single submitter
TBCD p.Arg150Pro Uncertain significance Single submitter
TBCD p.Arg217Cys Uncertain significance Single submitter
TBCD p.Arg303Gln Uncertain significance Single submitter
TBCD p.Arg320Ser Uncertain significance Single submitter
TBCD p.Arg360Cys Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg360His Uncertain significance Single submitter
TBCD p.Arg37Gln Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg386Gly Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg665His Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg722Ser Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg815Gly Uncertain significance Single submitter
TBCD p.Arg872Cys Uncertain significance Single submitter
TBCD p.Arg901His Uncertain significance Single submitter
TBCD p.Arg918His Uncertain significance Single submitter
TBCD p.Arg951Gly Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg979Cys Uncertain significance Single submitter
TBCD p.Arg979Leu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asn235Ile Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asn289Ser Uncertain significance Single submitter
TBCD p.Asn708Ser Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asn83Ser Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asp134Gly Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asp18Glu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asp347Asn Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asp535Ala Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Asp565Glu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Cys406Arg Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Cys625Tyr Uncertain significance Single submitter
TBCD p.Cys737Arg Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Gln1017Arg Uncertain significance Single submitter
TBCD p.Gln1100His Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gln1170His Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gln242His Uncertain significance Single submitter
TBCD p.Gln290His Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gln704Arg Uncertain significance Single submitter
TBCD p.Gln759Arg Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gln827Glu Uncertain significance Single submitter
TBCD p.Gln971His Uncertain significance Single submitter
TBCD p.Glu130Asp Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Glu15Ala Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Glu17Gln Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Glu425Gly Uncertain significance Single submitter
TBCD p.Glu649Ala Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Glu649Lys Uncertain significance Single submitter
TBCD p.Glu69Asp Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Glu6Lys Uncertain significance Single submitter
TBCD p.Glu755Val Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Glu768Gly Uncertain significance Single submitter
TBCD p.Gly1020Asp Uncertain significance Single submitter
TBCD p.Gly179Arg Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gly305Val Uncertain significance Single submitter
TBCD p.Gly357Trp Uncertain significance Single submitter
TBCD p.Gly389Ser Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gly401Arg Uncertain significance Single submitter
TBCD p.Gly577Arg Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gly784Asp Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gly797Ser Uncertain significance Single submitter
TBCD p.Gly854Ser Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.His100Tyr Uncertain significance Single submitter
TBCD p.His713Asp Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ile109Val Uncertain significance Single submitter
TBCD p.Ile189Leu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ile572Thr Uncertain significance Single submitter
TBCD p.Ile63Leu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ile822Val Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ile902Leu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ile998Met Uncertain significance Single submitter
TBCD p.Ile998Ser Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Leu1005Phe Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Leu1071Val Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Leu1155Val Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Leu1164Phe Uncertain significance Single submitter
TBCD p.Leu483Met Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 71

The independent predictors disagree with each other — read with care.

TBCD p.Ala415Val Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Ala875Thr Uncertain significance Multiple submitters
TBCD p.Arg722Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Arg765Trp Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Arg968Cys Benign/Likely benign Multiple submitters
TBCD p.Glu350Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Glu838Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Gly540Ser Uncertain significance Multiple submitters
TBCD p.His930Arg Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Leu567Val Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Lys571Arg Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Pro76Leu Uncertain significance Multiple submitters
TBCD p.Thr758Met Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Thr796Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TBCD p.Thr927Met Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Tyr107Cys Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Val1105Met Uncertain significance Multiple submitters
TBCD p.Val443Met Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Val539Ile Uncertain significance Multiple submitters
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Ala584Val Conflicting Single submitter
Inborn genetic diseases
TBCD p.Ala631Asp Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ala748Thr Conflicting Single submitter
Inborn genetic diseases
TBCD p.Arg1120His Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg1168Gly Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg169Cys Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg188Cys Uncertain significance Single submitter
TBCD p.Arg436Gln Uncertain significance Single submitter
TBCD p.Arg454Trp Uncertain significance Single submitter
TBCD p.Arg464Lys Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg502Gln Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg542Thr Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Arg790Trp Conflicting Single submitter
Inborn genetic diseases
TBCD p.Arg901Cys Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Arg916Cys Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asn462Ser Conflicting Single submitter
Inborn genetic diseases
TBCD p.Asn544Ser Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Asn544Thr Uncertain significance Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Asp268His Uncertain significance Single submitter
TBCD p.Gly789Ala Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Gly992Ser Uncertain significance Single submitter
TBCD p.His659Arg Uncertain significance Single submitter
TBCD p.Leu1089Pro Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Leu85Phe Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Lys104Thr Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Met81Ile Uncertain significance Single submitter
TBCD p.Phe214Cys Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Phe500Leu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Phe925Leu Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Pro1042Leu Conflicting Single submitter
Inborn genetic diseases
TBCD p.Pro1122Leu Conflicting Single submitter
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD p.Pro1181Leu Uncertain significance Single submitter
TBCD p.Pro480Leu Uncertain significance Single submitter
TBCD p.Pro485Leu Uncertain significance Single submitter
TBCD p.Pro595His Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Pro595Ser Uncertain significance Single submitter
TBCD p.Pro604Ser Benign Single submitter
TBCD p.Pro767Leu Uncertain significance Single submitter
TBCD p.Pro967Arg Uncertain significance Single submitter
TBCD-related disorder
TBCD p.Ser158Cys Uncertain significance Single submitter
TBCD p.Ser239Tyr Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Ser458Asn Uncertain significance Single submitter
TBCD p.Ser458Gly Uncertain significance Single submitter
TBCD p.Ser612Ile Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Thr117Arg Likely benign Single submitter
TBCD p.Thr994Met Uncertain significance Single submitter
TBCD p.Tyr115Asn Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Val1094Met Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Val459Met Uncertain significance Single submitter
TBCD p.Val463Ile Uncertain significance Single submitter
Inborn genetic diseases
TBCD p.Val867Met Uncertain significance Single submitter
TBCD p.Arg377Gln Pathogenic No assertion criteria
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

All TBCD variants

Pathogenic 48

p.Arg436Ter Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gln330Ter Multiple submitters Inborn genetic diseases
p.Tyr760Ter Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.2009del Single submitter
c.817+1G>A Single submitter
c.817+2T>C Single submitter
p.Ala510fs Single submitter
p.Ala586Val Single submitter
p.Ala732fs Single submitter
p.Ala735fs Single submitter
p.Arg182Ter Single submitter
p.Arg204Ter Single submitter
p.Arg502Ter Single submitter
p.Arg580Ter Single submitter
p.Arg669Ter Single submitter
p.Asn505fs Single submitter
p.Asp535fs Single submitter
p.Cys1096fs Single submitter
p.Gln1086Ter Single submitter
p.Gln334Ter Single submitter
p.Gln336Ter Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gln410Ter Single submitter
p.Gln515Ter Single submitter
p.Gln561Ter Single submitter
p.Gln653Ter Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gln909Ter Single submitter
p.Gly10fs Single submitter
p.His1049fs Single submitter
p.Ile1012fs Single submitter
p.Ile198fs Single submitter
p.Leu483fs Single submitter
p.Leu567fs Single submitter
p.Leu647fs Single submitter
p.Leu711fs Single submitter
p.Leu798Ter Single submitter
p.Lys1126fs Single submitter
p.Lys299fs Single submitter
p.Phe931fs Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ser408fs Single submitter
p.Trp378Ter Single submitter
p.Tyr1133Ter Single submitter
p.Val1154fs Single submitter
p.Val358fs Single submitter
c.1564-12C>G No assertion criteria early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ala921Thr No assertion criteria early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Arg377Gln No assertion criteria early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Met387Arg No assertion criteria early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Pro937Arg No assertion criteria early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠

Pathogenic/Likely pathogenic 11

c.1150_1171del Multiple submitters TBCD-related disorder
c.1224-2A>G Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ala475Thr Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ala554Val Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Arg113Ter Multiple submitters TBCD-related disorder
p.Arg303Ter Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Arg323Ter Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Arg772Cys Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Glu6Ter Multiple submitters
p.His77Arg Multiple submitters TBCD-related disorder ⚠
p.Trp705fs Multiple submitters TBCD-related disorder

Likely pathogenic 32

c.1272_1318+43del Multiple submitters TBCD-related disorder
c.2007-2A>G Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Glu995fs Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Tyr115_Lys116delinsTer Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.1088-2A>G Single submitter
c.1148+1G>A Single submitter
c.1149-2A>C Single submitter
c.1224-325_1253delinsA Single submitter
c.1302_1318+73del Single submitter
c.1476-1G>T Single submitter
c.1533+1G>A Single submitter
c.1534-1G>A Single submitter
c.1563+1G>A Single submitter
c.1923-2A>G Single submitter
c.2006+2T>A Single submitter
c.2380-1G>A Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.2472-2A>G Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.2853-2A>G Single submitter
c.3113+1G>A Single submitter
c.3480-2A>G Single submitter
c.435+1del Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.950+1G>T Single submitter
c.950+2T>C Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Arg294Gln Single submitter ⚠
p.Arg502Gly Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Asn1033Lys Single submitter ⚠
p.Asp1104fs Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gln255Ter Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gln964fs Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Glu685Ter Single submitter
p.Glu754Ter Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Trp575fs Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Conflicting classifications of pathogenicity 48

c.1534-4G>A Single submitter
c.2006+5G>A Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.2178+5A>G Single submitter
c.2609+5G>A Single submitter
c.2610-5A>G Single submitter
c.2852+3A>G Single submitter Inborn genetic diseases
c.2991+8G>A Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.3479+11G>A Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ala181Pro Single submitter Inborn genetic diseases ⚠
p.Ala422Val Single submitter Inborn genetic diseases
p.Ala447Val Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ala584Val Single submitter Inborn genetic diseases ⚠
p.Ala748Thr Single submitter Inborn genetic diseases ⚠
p.Arg1173His Single submitter intellectual disability ⚠
p.Arg238His Single submitter Inborn genetic diseases ⚠
p.Arg294Trp Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Arg580Gln Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Arg790Gln Single submitter Inborn genetic diseases ⚠
p.Arg790Trp Single submitter Inborn genetic diseases ⚠
p.Arg888Gln Single submitter Inborn genetic diseases ⚠
p.Arg901Cys Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Arg968His Single submitter Inborn genetic diseases ⚠
p.Asn462Ser Single submitter Inborn genetic diseases ⚠
p.Asp1104Asn Single submitter Inborn genetic diseases ⚠
p.Asp1149= Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Asp1161= Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Asp353Asn Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Glu1007Ala Single submitter ⚠
p.Glu747Lys Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Glu807Lys Single submitter Inborn genetic diseases ⚠
p.Gly10Asp Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Gly1103Ser Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Gly418= Single submitter
p.His713Tyr Single submitter Inborn genetic diseases ⚠
p.Ile185Val Single submitter Inborn genetic diseases ⚠
p.Ile622Val Single submitter Inborn genetic diseases ⚠
p.Leu292Val Single submitter TBCD-related disorder ⚠
p.Met856Val Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Met880Leu Single submitter Inborn genetic diseases ⚠
p.Pro1042= Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Pro1042Leu Single submitter Inborn genetic diseases ⚠
p.Pro1122Leu Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Pro434Leu Single submitter Inborn genetic diseases
p.Ser776Leu Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Thr1046Met Single submitter ⚠
p.Thr861Met Single submitter Inborn genetic diseases ⚠
p.Thr997= Single submitter
p.Val376Met Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠

Benign 97

c.1087+96C>T Multiple submitters
c.1088-162C>A Multiple submitters
c.1224-152T>C Multiple submitters
c.1318+17578G>A Multiple submitters
c.1319-145A>G Multiple submitters
c.1319-43G>A Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.1475+25C>T Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.1475+47G>A Multiple submitters
c.1475+53G>A Multiple submitters
c.1476-126G>T Multiple submitters
c.1730+62G>A Multiple submitters
c.1731-75A>G Multiple submitters
c.1923-111G>A Multiple submitters
c.1983+169T>C Multiple submitters
c.1984-162C>T Multiple submitters
c.1984-8A>G Multiple submitters
c.2006+150C>T Multiple submitters
c.2006+98C>A Multiple submitters
c.2007-202G>A Multiple submitters
c.2007-206C>T Multiple submitters
c.2007-6T>C Multiple submitters
c.2007-84C>G Multiple submitters
c.2038+110T>C Multiple submitters
c.2038+41C>G Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.2102-52G>T Multiple submitters
c.2179-78G>C Multiple submitters
c.236-145G>A Multiple submitters
c.2380-144A>G Multiple submitters
c.2380-151A>G Multiple submitters
c.2380-29T>C Multiple submitters
c.2472-14A>C Multiple submitters
c.2853-32A>G Multiple submitters
c.2853-44G>A Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.2991+75A>G Multiple submitters
c.2992-150G>A Multiple submitters
c.2992-234A>G Multiple submitters
c.2992-236C>G Multiple submitters
c.2992-67G>A Multiple submitters
c.3191+27T>C Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.3281+17G>A Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.3282-156A>G Multiple submitters
c.3282-180T>C Multiple submitters
c.3369+103C>T Multiple submitters
c.3369+150G>A Multiple submitters
c.3370-28C>T Multiple submitters
c.3479+140A>G Multiple submitters
c.3564+148C>T Multiple submitters
c.3564+30G>T Multiple submitters
c.435+21C>G Multiple submitters
c.436-18C>T Multiple submitters
c.436-36A>G Multiple submitters
c.638+144T>C Multiple submitters
c.638+80G>A Multiple submitters
c.772-3dup Multiple submitters
c.817+82T>G Multiple submitters
p.Ala1162= Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ala493= Multiple submitters
p.Ala874= Multiple submitters
p.Asp953= Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Glu1097Gly Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gly10Cys Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gly943Val Multiple submitters
p.Met617Thr Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Phe1022= Multiple submitters
p.Phe474= Multiple submitters
c.1087+123C>T Single submitter
c.1087+124G>A Single submitter
c.1318+122C>T Single submitter
c.1319-197C>T Single submitter
c.1475+15C>T Single submitter
c.1476-6del Single submitter
c.1533+173G>A Single submitter
c.1731-3C>T Single submitter
c.1804+13C>G Single submitter
c.1805-104C>T Single submitter
c.184+14G>A Single submitter
c.1922+194T>C Single submitter
c.1984-9dup Single submitter
c.2006+15del Single submitter
c.2006+204del Single submitter
c.236-193C>G Single submitter
c.2379+214A>C Single submitter
c.2852+24del Single submitter
c.2991+162del Single submitter
c.3192-12T>G Single submitter
c.3192-173T>C Single submitter
c.3281+20G>A Single submitter
c.436-204G>A Single submitter
c.436-3dup Single submitter
c.771+13C>T Single submitter
c.-33del Single submitter
p.Arg454= Single submitter
p.Arg542= Single submitter
p.Cys1096= Single submitter
p.Ile1092= Single submitter
p.Pro604Ser Single submitter ⚠
p.Val441= Single submitter

Benign/Likely benign 21

c.1149-16T>C Multiple submitters
c.1318+16692C>T Multiple submitters
c.2261-16C>T Multiple submitters
c.3282-5G>A Multiple submitters
c.435+22dup Multiple submitters
p.Ala489= Multiple submitters
p.Arg968Cys Multiple submitters ⚠
p.Asp1084= Multiple submitters
p.Asp348= Multiple submitters
p.Asp349= Multiple submitters
p.Gly10= Multiple submitters
p.Gly1179= Multiple submitters
p.Ile1092Met Multiple submitters
p.Leu1072= Multiple submitters
p.Leu1185Pro Multiple submitters
p.Leu331= Multiple submitters
p.Leu365= Multiple submitters
p.Leu714= Multiple submitters
p.Ser1023= Multiple submitters
p.Ser158= Multiple submitters
p.Tyr450= Multiple submitters

Likely benign 760

Showing the top 300 by review status; the full set is in the sitemap.

c.1087+18G>A Multiple submitters
c.1087+20C>T Multiple submitters
c.1223+8A>T Multiple submitters
c.1318+18G>A Multiple submitters
c.1475+13G>A Multiple submitters
c.1804+15C>T Multiple submitters
c.1805-19T>C Multiple submitters
c.1922+18C>T Multiple submitters
c.2038+9G>A Multiple submitters
c.2178+18G>A Multiple submitters
c.2261-15G>A Multiple submitters
c.2379+14C>T Multiple submitters
c.2379+16C>T Multiple submitters
c.2609+18G>C Multiple submitters
c.2609+4C>T Multiple submitters Inborn genetic diseases
c.2609+8C>T Multiple submitters
c.2610-20G>A Multiple submitters
c.2693+12G>A Multiple submitters
c.2852+8C>T Multiple submitters
c.2991+10C>G Multiple submitters
c.2992-10C>T Multiple submitters
c.3282-17T>C Multiple submitters
c.333+20del Multiple submitters
c.435+11C>T Multiple submitters
c.435+17C>A Multiple submitters
c.639-10C>T Multiple submitters
c.771+14G>A Multiple submitters
c.950+14G>A Multiple submitters
p.Ala1145= Multiple submitters
p.Ala477= Multiple submitters
p.Ala812= Multiple submitters
p.Ala823= Multiple submitters
p.Arg204= Multiple submitters
p.Arg37= Multiple submitters
p.Asn517= Multiple submitters
p.Asp171= Multiple submitters
p.Asp648= Multiple submitters
p.Gln1017= Multiple submitters
p.Gly1024Arg Multiple submitters Inborn genetic diseases
p.Gly1144Asp Multiple submitters Inborn genetic diseases
p.Gly368= Multiple submitters
p.Gly780= Multiple submitters
p.Gly842Arg Multiple submitters Inborn genetic diseases
p.His1049= Multiple submitters
p.His47= Multiple submitters
p.His526= Multiple submitters
p.His616= Multiple submitters
p.Ile1085= Multiple submitters
p.Leu325= Multiple submitters
p.Leu437= Multiple submitters
p.Leu448= Multiple submitters
p.Leu567= Multiple submitters
p.Pro1102= Multiple submitters
p.Pro1122= Multiple submitters
p.Pro12= Multiple submitters
p.Pro595= Multiple submitters
p.Pro806= Multiple submitters
p.Ser598= Multiple submitters
p.Ser621= Multiple submitters
p.Ser923= Multiple submitters
p.Ser960= Multiple submitters
p.Thr243= Multiple submitters
p.Thr253Met Multiple submitters Inborn genetic diseases
p.Thr560= Multiple submitters
p.Thr600= Multiple submitters
p.Thr861= Multiple submitters
p.Thr994= Multiple submitters
p.Tyr980= Multiple submitters
p.Val1142= Multiple submitters
p.Val1154= Multiple submitters
p.Val358= Multiple submitters
p.Val62= Multiple submitters
p.Val809Ile Multiple submitters
p.Val987= Multiple submitters
c.1087+16G>A Single submitter
c.1087+17C>T Single submitter
c.1087+9G>A Single submitter
c.1088-12C>T Single submitter
c.1088-13C>T Single submitter
c.1088-17C>T Single submitter
c.1088-20T>C Single submitter
c.1088-4A>T Single submitter
c.1148+11G>A Single submitter
c.1148+16C>T Single submitter
c.1148+17G>A Single submitter
c.1148+9C>G Single submitter
c.1149-13G>A Single submitter
c.1149-7C>T Single submitter
c.1223+15C>T Single submitter
c.1223+20dup Single submitter
c.1223+20G>A Single submitter
c.1223+7G>C Single submitter
c.1224-12T>C Single submitter
c.1224-17A>T Single submitter
c.1224-7C>T Single submitter
c.1224-8G>C Single submitter
c.1318+13G>A Single submitter
c.1318+14G>T Single submitter
c.1318+15538G>C Single submitter
c.1318+15664T>C Single submitter
c.1318+15733A>C Single submitter
c.1318+16231C>T Single submitter
c.1318+17097C>T Single submitter
c.1318+17199T>G Single submitter
c.1318+17284G>A Single submitter
c.1318+17C>T Single submitter
c.1318+19G>A Single submitter
c.1318+19G>C Single submitter
c.1318+20T>A Single submitter
c.1318+9C>T Single submitter
c.1319-10C>G Single submitter
c.1319-13T>G Single submitter
c.1319-14T>C Single submitter
c.1319-15C>T Single submitter
c.1319-17C>T Single submitter
c.1475+12C>A Single submitter
c.1475+12C>T Single submitter
c.1475+16G>A Single submitter
c.1475+18G>C Single submitter
c.1475+20T>C Single submitter
c.1475+7C>T Single submitter
c.1476-11C>G Single submitter
c.1476-13C>A Single submitter
c.1476-14T>C Single submitter
c.1476-16T>C Single submitter
c.1476-18C>A Single submitter
c.1476-19T>C Single submitter
c.1533+11T>G Single submitter
c.1533+12C>T Single submitter
c.1533+14T>C Single submitter
c.1533+16T>C Single submitter
c.1534-16G>C Single submitter
c.1534-20G>C Single submitter
c.1534-5C>T Single submitter
c.1534-6C>T Single submitter
c.1563+17A>T Single submitter
c.1563+19A>G Single submitter
c.1563+6dup Single submitter
c.1563+9G>A Single submitter
c.1563+9G>T Single submitter
c.1564-15C>A Single submitter
c.1564-18T>A Single submitter
c.1564-22C>T Single submitter
c.1564-5A>T Single submitter
c.1564-7T>A Single submitter
c.1564-8_1564-6del Single submitter
c.1649+13T>C Single submitter
c.1649+2201G>A Single submitter
c.1650-13del Single submitter
c.1650-16A>G Single submitter
c.1650-16A>T Single submitter
c.1650-18C>T Single submitter
c.1650-19T>G Single submitter
c.1650-20C>G Single submitter
c.1650-20C>T Single submitter
c.1650-9C>G Single submitter
c.1730+12G>A Single submitter
c.1730+13T>G Single submitter
c.1730+15T>G Single submitter
c.1730+8T>C Single submitter
c.1731-11C>G Single submitter
c.1731-15T>C Single submitter
c.1731-18T>G Single submitter
c.1731-7C>T Single submitter
c.1804+11G>C Single submitter
c.1804+12T>C Single submitter
c.1804+14C>T Single submitter
c.1804+19C>T Single submitter
c.1804+20G>T Single submitter
c.1804+8T>C Single submitter
c.1804+9G>T Single submitter
c.1805-17G>C Single submitter
c.1805-18C>T Single submitter
c.1805-20C>G Single submitter
c.1805-5T>C Single submitter
c.185-12_185-11del Single submitter
c.185-12A>G Single submitter
c.185-13T>C Single submitter
c.185-17G>A Single submitter
c.185-18T>C Single submitter
c.1922+19G>A Single submitter
c.1922+7A>G Single submitter
c.1922+8G>T Single submitter
c.1923-11A>G Single submitter
c.1923-12G>T Single submitter
c.1923-19T>C Single submitter
c.1923-19TG[3] Single submitter
c.1923-5T>C Single submitter
c.1923-6C>T Single submitter
c.1983+20G>A Single submitter
c.1984-10T>G Single submitter
c.1984-17C>T Single submitter
c.1984-18T>C Single submitter
c.1984-19_1984-18del Single submitter
c.2006+10A>G Single submitter
c.2006+17C>G Single submitter
c.2006+19A>T Single submitter
c.2006+7T>C Single submitter
c.2007-12A>G Single submitter
c.2007-18G>A Single submitter
c.2007-20A>G Single submitter
c.2007-5T>C Single submitter
c.2007-7T>C Single submitter
c.2007-8C>A Single submitter
c.2038+10_2038+29del Single submitter
c.2038+10A>C Single submitter
c.2038+14C>T Single submitter
c.2038+15C>T Single submitter
c.2038+18T>C Single submitter
c.2038+18T>G Single submitter
c.2038+27_2038+36del Single submitter
c.2178+12A>G Single submitter
c.2178+17C>T Single submitter
c.2179-11C>G Single submitter
c.2179-13G>C Single submitter
c.2179-15C>T Single submitter
c.2179-18G>A Single submitter
c.2179-19C>T Single submitter
c.2179-19del Single submitter
c.2260+14C>T Single submitter
c.2260+18T>C Single submitter
c.2260+19T>C Single submitter
c.2260+437A>T Single submitter
c.2260+8G>A Single submitter
c.2261-12dup Single submitter
c.2261-15G>T Single submitter
c.2261-19A>G Single submitter
c.2261-5T>C Single submitter
c.235+16G>A Single submitter
c.235+18T>C Single submitter
c.235+19G>A Single submitter
c.235+20A>G Single submitter
c.235+8T>C Single submitter
c.236-14A>G Single submitter
c.236-14A>T Single submitter
c.236-16C>T Single submitter
c.236-19T>C Single submitter
c.236-19T>G Single submitter
c.236-20T>C Single submitter
c.236-4C>G Single submitter
c.236-5C>T Single submitter
c.2379+12C>T Single submitter
c.2379+15G>A Single submitter
c.2379+17G>A Single submitter
c.2380-13T>C Single submitter
c.2380-14T>C Single submitter
c.2380-5T>C Single submitter
c.2380-8C>T Single submitter
c.2471+10_2471+11del Single submitter
c.2471+10A>C Single submitter
c.2471+11A>G Single submitter
c.2471+12C>T Single submitter
c.2471+14G>A Single submitter
c.2471+15T>C Single submitter
c.2471+17C>T Single submitter
c.2471+18C>G Single submitter
c.2471+20C>T Single submitter
c.2471+7C>T Single submitter
c.2471+95T>C Single submitter
c.2472-18A>T Single submitter
c.2472-19C>T Single submitter
c.2472-4T>C Single submitter
c.2609+15G>C Single submitter
c.2609+19G>A Single submitter
c.2609+7A>T Single submitter
c.2609+9G>A Single submitter
c.2610-11T>C Single submitter
c.2610-12T>C Single submitter
c.2610-14C>T Single submitter
c.2610-6C>T Single submitter
c.2610-8C>T Single submitter
c.2693+11C>T Single submitter
c.2693+14C>T Single submitter
c.2693+15G>A Single submitter
c.2693+16C>T Single submitter
c.2693+18G>A Single submitter
c.2693+7G>T Single submitter
c.2694-10C>T Single submitter
c.2694-12C>G Single submitter
c.2694-12C>T Single submitter
c.2694-13T>C Single submitter
c.2694-15G>C Single submitter
c.2694-17C>T Single submitter
c.2694-8G>T Single submitter
c.2852+10G>T Single submitter
c.2852+16_2852+28del Single submitter
c.2852+17G>A Single submitter
c.2852+18G>T Single submitter
c.2852+19C>G Single submitter
c.2852+20C>A Single submitter
c.2852+9G>A Single submitter
c.2853-12_2853-9del Single submitter
c.2853-16A>T Single submitter
c.2853-17C>G Single submitter
c.2853-17C>T Single submitter
c.2853-19C>T Single submitter
c.2853-4G>A Single submitter
c.2853-6_2853-5del Single submitter
c.2991+10C>T Single submitter
c.2991+11G>A Single submitter

Uncertain significance 318

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1093Thr Multiple submitters TBCD-related disorder ⚠
p.Ala1159Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1162Val Multiple submitters Inborn genetic diseases ⚠
p.Ala273Val Multiple submitters ⚠
p.Ala394Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala415Val Multiple submitters Inborn genetic diseases ⚠
p.Ala599Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala626Ser Multiple submitters ⚠
p.Ala626Thr Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ala875Thr Multiple submitters ⚠
p.Ala907Val Multiple submitters Inborn genetic diseases ⚠
p.Arg1107Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg1171Cys Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Arg1171Leu Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Arg150His Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Arg238Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg266Cys Multiple submitters ⚠
p.Arg320Cys Multiple submitters Inborn genetic diseases
p.Arg722Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg765Trp Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Arg942Gln Multiple submitters ⚠
p.Asn1033Ser Multiple submitters ⚠
p.Asn235Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp281Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp858Asn Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Asp953Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys457Arg Multiple submitters Inborn genetic diseases
p.Cys850Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln1003Arg Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Gln1184Ter Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gln334Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln638Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln660Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln908Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu28Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu350Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu596Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu838Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly1054Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly31Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly357Arg Multiple submitters ⚠
p.Gly540Ser Multiple submitters ⚠
p.His574Tyr Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.His72Tyr Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.His897Arg Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.His930Arg Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ile530Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu1071Trp Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Leu229Arg Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Leu331Val Multiple submitters Inborn genetic diseases ⚠
p.Leu445Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu567Val Multiple submitters Inborn genetic diseases ⚠
p.Lys571Arg Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Met250Val Multiple submitters ⚠
p.Met609Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro218Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro311Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro392Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro745Leu Multiple submitters ⚠
p.Pro76Leu Multiple submitters ⚠
p.Pro962Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser1130Asn Multiple submitters ⚠
p.Ser1156Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser718Leu Multiple submitters ⚠
p.Ser810Thr Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ser956Phe Multiple submitters Inborn genetic diseases ⚠
p.Thr110Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr644Met Multiple submitters Inborn genetic diseases ⚠
p.Thr758Met Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Thr796Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr927Met Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Tyr107Cys Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Tyr478Cys Multiple submitters
p.Val1105Met Multiple submitters ⚠
p.Val1142Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1180Ile Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Val209Ile Multiple submitters Inborn genetic diseases ⚠
p.Val443Met Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Val539Ile Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Val643Ile Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Val924Met Multiple submitters early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Val982Ile Multiple submitters Inborn genetic diseases ⚠
c.1087+4C>A Single submitter
c.1087+4C>T Single submitter
c.1087+5G>A Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.1088-5T>C Single submitter
c.1148+3A>G Single submitter
c.1224-5C>G Single submitter
c.1318+13_1318+102del Single submitter
c.1318+23870C>T Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.1319-3C>T Single submitter
c.1475+5G>T Single submitter Inborn genetic diseases
c.1804+4G>T Single submitter
c.2260+459G>A Single submitter
c.2260+5G>A Single submitter
c.2471+3G>A Single submitter
c.2852+4C>T Single submitter
c.2853-15C>G Single submitter
c.2853-3C>A Single submitter
c.3369+75G>A Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.436-8T>G Single submitter
c.638+2044A>G Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.639-729C>G Single submitter
c.951-2A>G Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
c.-6G>T Single submitter
p.346EDDD[1] Single submitter
p.Ala102Pro Single submitter ⚠
p.Ala1145Thr Single submitter Inborn genetic diseases ⚠
p.Ala127Pro Single submitter Inborn genetic diseases ⚠
p.Ala127Thr Single submitter Inborn genetic diseases ⚠
p.Ala273Thr Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala315Val Single submitter ⚠
p.Ala442Thr Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ala467Thr Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ala498Val Single submitter ⚠
p.Ala513Thr Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Ala583Val Single submitter
p.Ala599Val Single submitter Inborn genetic diseases ⚠
p.Ala626Val Single submitter ⚠
p.Ala631Asp Single submitter Inborn genetic diseases ⚠
p.Ala636Ser Single submitter ⚠
p.Ala821Val Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ala823Glu Single submitter Inborn genetic diseases ⚠
p.Ala835Gly Single submitter Inborn genetic diseases ⚠
p.Ala851Val Single submitter ⚠
p.Ala887Val Single submitter Inborn genetic diseases ⚠
p.Ala922Thr Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ala961Val Single submitter ⚠
p.Arg1120His Single submitter Inborn genetic diseases ⚠
p.Arg1168Gly Single submitter Inborn genetic diseases ⚠
p.Arg1171His Single submitter
p.Arg120Gly Single submitter ⚠
p.Arg150Pro Single submitter ⚠
p.Arg169Cys Single submitter Inborn genetic diseases ⚠
p.Arg188Cys Single submitter ⚠
p.Arg213= Single submitter
p.Arg217Cys Single submitter ⚠
p.Arg303Gln Single submitter ⚠
p.Arg320His Single submitter
p.Arg320Ser Single submitter ⚠
p.Arg360Cys Single submitter Inborn genetic diseases ⚠
p.Arg360His Single submitter ⚠
p.Arg37Gln Single submitter Inborn genetic diseases ⚠
p.Arg386Gly Single submitter Inborn genetic diseases ⚠
p.Arg436Gln Single submitter ⚠
p.Arg454Trp Single submitter ⚠
p.Arg464Lys Single submitter Inborn genetic diseases ⚠
p.Arg502Gln Single submitter Inborn genetic diseases ⚠
p.Arg542Thr Single submitter Inborn genetic diseases ⚠
p.Arg665His Single submitter Inborn genetic diseases ⚠
p.Arg722Ser Single submitter Inborn genetic diseases ⚠
p.Arg815Gly Single submitter ⚠
p.Arg872Cys Single submitter ⚠
p.Arg901His Single submitter ⚠
p.Arg916Cys Single submitter Inborn genetic diseases ⚠
p.Arg918His Single submitter ⚠
p.Arg951Gly Single submitter Inborn genetic diseases ⚠
p.Arg979Cys Single submitter ⚠
p.Arg979Leu Single submitter Inborn genetic diseases ⚠
p.Asn235Ile Single submitter Inborn genetic diseases ⚠
p.Asn289Ser Single submitter ⚠
p.Asn544Ser Single submitter Inborn genetic diseases ⚠
p.Asn544Thr Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Asn708Ser Single submitter Inborn genetic diseases ⚠
p.Asn83Ser Single submitter Inborn genetic diseases ⚠
p.Asp134Gly Single submitter Inborn genetic diseases ⚠
p.Asp18Glu Single submitter Inborn genetic diseases ⚠
p.Asp268His Single submitter ⚠
p.Asp347Asn Single submitter Inborn genetic diseases ⚠
p.Asp535Ala Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Asp565Glu Single submitter Inborn genetic diseases ⚠
p.Asp614His Single submitter Inborn genetic diseases
p.Asp749_Pro750delinsGluThr Single submitter
p.Cys406Arg Single submitter Inborn genetic diseases ⚠
p.Cys625Tyr Single submitter ⚠
p.Cys737Arg Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Gln1017Arg Single submitter ⚠
p.Gln1100His Single submitter Inborn genetic diseases ⚠
p.Gln1170His Single submitter Inborn genetic diseases ⚠
p.Gln1188Ter Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Gln242His Single submitter ⚠
p.Gln290His Single submitter Inborn genetic diseases ⚠
p.Gln704Arg Single submitter ⚠
p.Gln759Arg Single submitter Inborn genetic diseases ⚠
p.Gln827Glu Single submitter ⚠
p.Gln971His Single submitter ⚠
p.Glu1097Arg Single submitter
p.Glu130Asp Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Glu15Ala Single submitter Inborn genetic diseases ⚠
p.Glu15del Single submitter
p.Glu17Gln Single submitter Inborn genetic diseases ⚠
p.Glu425Gly Single submitter ⚠
p.Glu649Ala Single submitter Inborn genetic diseases ⚠
p.Glu649Lys Single submitter ⚠
p.Glu69Asp Single submitter Inborn genetic diseases ⚠
p.Glu6Lys Single submitter ⚠
p.Glu755Val Single submitter Inborn genetic diseases ⚠
p.Glu768Gly Single submitter ⚠
p.Glu769del Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.Glu769Lys Single submitter
p.Gly1020Asp Single submitter ⚠
p.Gly1103Arg Single submitter
p.Gly179Arg Single submitter Inborn genetic diseases ⚠
p.Gly305Val Single submitter ⚠
p.Gly357Trp Single submitter ⚠
p.Gly389Ser Single submitter Inborn genetic diseases ⚠
p.Gly401Arg Single submitter ⚠
p.Gly577Arg Single submitter Inborn genetic diseases ⚠
p.Gly784Asp Single submitter Inborn genetic diseases ⚠
p.Gly789Ala Single submitter Inborn genetic diseases ⚠
p.Gly797Ser Single submitter ⚠
p.Gly854Ser Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Gly992Ser Single submitter ⚠
p.His100Tyr Single submitter ⚠
p.His1065Arg Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
p.His1119Arg Single submitter
p.His124Tyr Single submitter
p.His659Arg Single submitter ⚠
p.His713Asp Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ile109Val Single submitter ⚠
p.Ile189Leu Single submitter Inborn genetic diseases ⚠
p.Ile572Thr Single submitter ⚠
p.Ile63Leu Single submitter Inborn genetic diseases ⚠
p.Ile822Val Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ile902Leu Single submitter Inborn genetic diseases ⚠
p.Ile998Met Single submitter ⚠
p.Ile998Ser Single submitter Inborn genetic diseases ⚠
p.Leu1005Phe Single submitter Inborn genetic diseases ⚠
p.Leu1071Val Single submitter Inborn genetic diseases ⚠
p.Leu1089Pro Single submitter Inborn genetic diseases ⚠
p.Leu1155Val Single submitter Inborn genetic diseases ⚠
p.Leu1164Phe Single submitter ⚠
p.Leu483Met Single submitter Inborn genetic diseases ⚠
p.Leu667Phe Single submitter Inborn genetic diseases ⚠
p.Leu85Phe Single submitter Inborn genetic diseases ⚠
p.Leu86del Single submitter
p.Leu884Val Single submitter Inborn genetic diseases ⚠
p.Leu928Phe Single submitter Inborn genetic diseases ⚠
p.Leu945Pro Single submitter Inborn genetic diseases ⚠
p.Lys104Thr Single submitter Inborn genetic diseases ⚠
p.Lys221Thr Single submitter ⚠
p.Lys310Arg Single submitter Inborn genetic diseases ⚠
p.Lys414Glu Single submitter ⚠
p.Lys743Asn Single submitter Inborn genetic diseases ⚠
p.Met244Thr Single submitter ⚠
p.Met250Thr Single submitter Inborn genetic diseases ⚠
p.Met617Arg Single submitter ⚠
p.Met617Ile Single submitter Inborn genetic diseases ⚠
p.Met64Thr Single submitter
p.Met742Thr Single submitter Inborn genetic diseases ⚠
p.Met81Ile Single submitter ⚠
p.Phe214Cys Single submitter Inborn genetic diseases ⚠
p.Phe500Leu Single submitter Inborn genetic diseases ⚠
p.Phe546Tyr Single submitter ⚠
p.Phe917Cys Single submitter Inborn genetic diseases ⚠
p.Phe925Leu Single submitter Inborn genetic diseases ⚠
p.Pro1102Leu Single submitter ⚠
p.Pro1181Leu Single submitter ⚠
p.Pro1183Ser Single submitter Inborn genetic diseases
p.Pro12Ala Single submitter Inborn genetic diseases ⚠
p.Pro178Arg Single submitter ⚠
p.Pro480Leu Single submitter ⚠
p.Pro485Leu Single submitter ⚠
p.Pro595His Single submitter Inborn genetic diseases ⚠
p.Pro595Ser Single submitter ⚠
p.Pro613Ser Single submitter Inborn genetic diseases ⚠
p.Pro767Leu Single submitter ⚠
p.Pro7Thr Single submitter Inborn genetic diseases ⚠
p.Pro891Ala Single submitter intellectual disability ⚠
p.Pro935Arg Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Pro967Arg Single submitter TBCD-related disorder ⚠
p.Ser158Cys Single submitter ⚠
p.Ser158Phe Single submitter Inborn genetic diseases ⚠
p.Ser239Tyr Single submitter Inborn genetic diseases ⚠
p.Ser458Asn Single submitter ⚠
p.Ser458Gly Single submitter ⚠
p.Ser491Leu Single submitter ⚠
p.Ser4Cys Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Ser612Ile Single submitter Inborn genetic diseases ⚠
p.Ser878Gly Single submitter ⚠
p.Ser923Asn Single submitter Inborn genetic diseases ⚠
p.Ser996Leu Single submitter ⚠
p.Thr1046Lys Single submitter ⚠
p.Thr1061Met Single submitter Inborn genetic diseases ⚠
p.Thr1158fs Single submitter
p.Thr560Met Single submitter ⚠
p.Thr828Ala Single submitter ⚠
p.Thr860Ala Single submitter ⚠
p.Thr860Ile Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Thr877Ala Single submitter ⚠
p.Thr877Ser Single submitter ⚠
p.Thr898Ile Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Thr994Met Single submitter ⚠
p.Thr997Met Single submitter ⚠
p.Tyr115Asn Single submitter Inborn genetic diseases ⚠
p.Tyr151Ser Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Tyr859Cys Single submitter Inborn genetic diseases ⚠
p.Val1041Met Single submitter early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ⚠
p.Val1094Met Single submitter Inborn genetic diseases ⚠