RAB3GAP1 — 606 ClinVar variants

All ClinVar germline RAB3GAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

53 Pathogenic · 8 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 14 Conflicting · 52 Benign · 11 Benign/Likely benign · 195 Likely benign · 254 Uncertain significance

Full RAB3GAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 195

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 agree, ClinVar conflicts 7

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

RAB3GAP1 p.Ala538Thr Conflicting Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg892Ser Conflicting Single submitter
RAB3GAP1 p.Leu842Phe Conflicting Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro423Arg Conflicting Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Pro933Leu Conflicting Single submitter
RAB3GAP1 p.Tyr242His Conflicting Single submitter
Inborn genetic diseases
RAB3GAP1 p.Val80Ala Conflicting Single submitter
Warburg micro syndrome 1

Predictors lean, ClinVar uncertain 145

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

RAB3GAP1 p.Ala538Val Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg125Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg174Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg315Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg337Gln Uncertain significance Multiple submitters
RAB3GAP1 p.Arg530Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg619Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg778Gln Uncertain significance Multiple submitters
Warburg micro syndrome 1
RAB3GAP1 p.Arg778Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg869Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg937Gln Uncertain significance Multiple submitters
RAB3GAP1 p.Arg947Cys Uncertain significance Multiple submitters
Warburg micro syndrome 1
RAB3GAP1 p.Arg958Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Asn42Asp Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Asn468Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Asp342Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Cys873Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Gln241Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Glu711Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Gly396Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.His171Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.His376Arg Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.His669Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Ile154Val Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Ile276Val Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Ile544Val Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Leu561Val Uncertain significance Multiple submitters
Warburg micro syndrome 1
RAB3GAP1 p.Leu970Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Lys459Arg Uncertain significance Multiple submitters
Warburg micro syndrome 1
RAB3GAP1 p.Ser62Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Ser73Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Thr409Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Thr430Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Tyr545Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Val255Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Ala131Val Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ala133Thr Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ala138Thr Uncertain significance Single submitter
RAB3GAP1 p.Ala358Pro Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ala502Thr Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ala787Thr Uncertain significance Single submitter
RAB3GAP1 p.Ala905Ser Uncertain significance Single submitter
RAB3GAP1 p.Arg337Leu Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg347Gln Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg392Gln Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Arg619Gln Uncertain significance Single submitter
RAB3GAP1 p.Arg673Cys Uncertain significance Single submitter
RAB3GAP1 p.Arg705Trp Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg728Trp Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg845Gly Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg847Gln Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Arg887Gly Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg887Ile Uncertain significance Single submitter
RAB3GAP1 p.Arg942Pro Uncertain significance Single submitter
RAB3GAP1-related disorder
RAB3GAP1 p.Arg958Leu Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Asn900Lys Uncertain significance Single submitter
RAB3GAP1 p.Asn926Ser Uncertain significance Single submitter
RAB3GAP1 p.Asp531Asn Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Asp559His Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Asp576Gly Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Cys522Trp Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Gln555Glu Uncertain significance Single submitter
RAB3GAP1 p.Gln675Arg Uncertain significance Single submitter
RAB3GAP1 p.Glu191Lys Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Glu31Ala Uncertain significance Single submitter
RAB3GAP1 p.Glu32Gln Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Glu582Lys Uncertain significance Single submitter
RAB3GAP1 p.Glu60Asp Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Glu760Gly Uncertain significance Single submitter
RAB3GAP1 p.Glu94Lys Uncertain significance Single submitter
RAB3GAP1 p.Gly179Ala Uncertain significance Single submitter
Martsolf syndrome 2
RAB3GAP1 p.Gly354Asp Uncertain significance Single submitter
RAB3GAP1 p.Gly45Arg Uncertain significance Single submitter
RAB3GAP1 p.Gly500Ala Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Gly533Glu Uncertain significance Single submitter
RAB3GAP1 p.Gly884Ser Uncertain significance Single submitter
RAB3GAP1 p.Gly891Ser Uncertain significance Single submitter
RAB3GAP1 p.His135Arg Uncertain significance Single submitter
RAB3GAP1 p.His204Arg Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.His287Tyr Uncertain significance Single submitter
RAB3GAP1 p.His669Tyr Uncertain significance Single submitter
RAB3GAP1 p.His820Pro Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ile216Met Uncertain significance Single submitter
RAB3GAP1 p.Ile375Val Uncertain significance Single submitter
RAB3GAP1 p.Ile40Thr Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ile807Met Uncertain significance Single submitter
RAB3GAP1 p.Ile807Val Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Leu324Pro Uncertain significance Single submitter
RAB3GAP1 p.Leu508Arg Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Leu561Arg Uncertain significance Single submitter
RAB3GAP1 p.Leu589Arg Uncertain significance Single submitter
RAB3GAP1 p.Leu635Val Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Leu79Phe Uncertain significance Single submitter
Martsolf syndrome 2
RAB3GAP1 p.Leu79Val Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Lys213Arg Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Lys46Asn Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Lys605Glu Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Lys744Arg Uncertain significance Single submitter
RAB3GAP1 p.Met101Ile Uncertain significance Single submitter
RAB3GAP1 p.Met101Val Uncertain significance Single submitter
RAB3GAP1 p.Met176Thr Uncertain significance Single submitter
RAB3GAP1 p.Met907Thr Uncertain significance Single submitter
RAB3GAP1 p.Met917Leu Uncertain significance Single submitter
RAB3GAP1 p.Phe350Leu Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Phe448Val Uncertain significance Single submitter
RAB3GAP1 p.Pro113Ser Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro132Ser Uncertain significance Single submitter
RAB3GAP1 p.Pro219Ala Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro219Ser Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro224Leu Uncertain significance Single submitter
RAB3GAP1 p.Pro499Ser Uncertain significance Single submitter
RAB3GAP1 p.Pro505Ser Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro643Ser Uncertain significance Single submitter
RAB3GAP1 p.Pro691Thr Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro822Arg Uncertain significance Single submitter
RAB3GAP1 p.Pro824Ala Uncertain significance Single submitter
RAB3GAP1 p.Pro920Ser Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ser100Cys Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ser227Arg Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ser503Arg Uncertain significance Single submitter
RAB3GAP1 p.Ser797Arg Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ser802Tyr Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ser803Leu Uncertain significance Single submitter
RAB3GAP1 p.Ser813Ala Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ser816Asn Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ser961Gly Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Thr283Ala Uncertain significance Single submitter
RAB3GAP1 p.Thr284Ala Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Thr284Lys Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Thr341Ala Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Thr944Asn Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Trp23Arg Uncertain significance Single submitter
RAB3GAP1-related disorder
RAB3GAP1 p.Trp701Cys Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Tyr442His Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Tyr445His Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Tyr636Asn Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Tyr951Cys Uncertain significance Single submitter
RAB3GAP1 p.Val477Met Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Val764Leu Uncertain significance Single submitter
RAB3GAP1 p.Val792Ile Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Val804Ala Uncertain significance Single submitter
RAB3GAP1 p.Val80Ile Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Val928Met Uncertain significance Single submitter
RAB3GAP1 p.Arg947His Uncertain significance No assertion criteria
amenorrhea
RAB3GAP1 p.Glu863Ala Uncertain significance No assertion criteria

Predictors split 43

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

RAB3GAP1 p.Arg489His Uncertain significance Multiple submitters
RAB3GAP1 p.Arg759Trp Uncertain significance Multiple submitters
Warburg micro syndrome 1
RAB3GAP1 p.Arg892Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Arg942Cys Uncertain significance Multiple submitters
RAB3GAP1 p.Gly476Glu Uncertain significance Multiple submitters
RAB3GAP1 p.Ile360Thr Uncertain significance Multiple submitters
Warburg micro syndrome 1
RAB3GAP1 p.Phe331Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Pro946Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RAB3GAP1 p.Ala2Val Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Ala3Val Uncertain significance Single submitter
RAB3GAP1 p.Ala788Thr Uncertain significance Single submitter
RAB3GAP1 p.Arg489Cys Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Arg942His Uncertain significance Single submitter
RAB3GAP1 p.Arg969Ile Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Asn382Lys Uncertain significance Single submitter
RAB3GAP1 p.Asp274Gly Uncertain significance Single submitter
RAB3GAP1 p.Asp4His Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Asp756Asn Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Gln246Arg Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Gln622His Uncertain significance Single submitter
RAB3GAP1 p.Glu142Lys Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Glu32Asp Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Glu32Lys Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Gly692Cys Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.His385Asp Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.His766Arg Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Leu364Ser Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Leu501Phe Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Lys459Gln Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Lys817Glu Uncertain significance Single submitter
RAB3GAP1 p.Met466Ile Uncertain significance Single submitter
RAB3GAP1 p.Met646Val Uncertain significance Single submitter
RAB3GAP1 p.Phe12Ser Uncertain significance Single submitter
Warburg micro syndrome 1
RAB3GAP1 p.Phe264Leu Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Phe931Leu Uncertain significance Single submitter
RAB3GAP1 p.Phe980Ser Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro112Ser Uncertain significance Single submitter
Inborn genetic diseases
RAB3GAP1 p.Pro199Gln Uncertain significance Single submitter
RAB3GAP1 p.Pro275Ser Uncertain significance Single submitter
RAB3GAP1 p.Pro934His Likely benign Single submitter
Inborn genetic diseases
RAB3GAP1 p.Thr15Ala Uncertain significance Single submitter
RAB3GAP1 p.Glu24Val Pathogenic No assertion criteria
Warburg micro syndrome 1
RAB3GAP1 p.Thr18Pro Pathogenic No assertion criteria
Warburg micro syndrome 1

All RAB3GAP1 variants

Pathogenic 53

c.2607-1G>C Multiple submitters Warburg micro syndrome 1
c.748+1G>A Multiple submitters Inborn genetic diseases
c.899+1G>A Multiple submitters RAB3GAP1-related disorder
p.Arg187Ter Multiple submitters Warburg micro syndrome 1
p.Arg231Ter Multiple submitters
p.Arg347Ter Multiple submitters Inborn genetic diseases
p.Arg392Ter Multiple submitters Warburg micro syndrome 1
p.Arg491Ter Multiple submitters RAB3GAP1-related disorder
p.Gln246Ter Multiple submitters Warburg micro syndrome 1
p.Leu881Ter Multiple submitters Warburg micro syndrome 1
p.Pro219_Leu220insTer Multiple submitters Warburg micro syndrome 1
p.Trp173Ter Multiple submitters Warburg micro syndrome 1
p.Tyr636Ter Multiple submitters Warburg micro syndrome 1
c.1237-2A>G Single submitter Warburg micro syndrome 1
c.1555-1G>A Single submitter Warburg micro syndrome 1
c.2710-1G>A Single submitter Warburg micro syndrome 1
c.482+1G>A Single submitter
p.Ala461fs Single submitter Warburg micro syndrome 1
p.Arg25fs Single submitter
p.Arg315Ter Single submitter RAB3GAP1-related disorder
p.Arg671Ter Single submitter Warburg micro syndrome 1
p.Asp36fs Single submitter
p.Cys463fs Single submitter Inborn genetic diseases
p.Glu584Ter Single submitter
p.Glu831Ter Single submitter Warburg micro syndrome 1
p.Gly157Ter Single submitter Warburg micro syndrome 1
p.Gly473fs Single submitter
p.Gly723Ter Single submitter
p.His171fs Single submitter RAB3GAP1-related disorder
p.Ile40fs Single submitter Warburg micro syndrome 1
p.Leu205fs Single submitter
p.Leu829Ter Single submitter Warburg micro syndrome 1
p.Pro416fs Single submitter Warburg micro syndrome 1
p.Ser437Ter Single submitter Warburg micro syndrome 1
p.Thr159fs Single submitter
p.Trp481fs Single submitter Warburg micro syndrome 1
p.Trp575Ter Single submitter
p.Trp701Ter Single submitter
p.Tyr951Ter Single submitter Warburg micro syndrome 1
p.Val328fs Single submitter
c.151-5T>G No assertion criteria congenital ptosis
c.2709+1G>T No assertion criteria Martsolf syndrome 2
c.649-2A>G No assertion criteria Warburg micro syndrome 1
p.Asp4fs No assertion criteria Martsolf syndrome 2
p.Gln518Ter No assertion criteria Warburg micro syndrome 1
p.Glu24Val No assertion criteria Warburg micro syndrome 1 ⚠
p.Lys89fs No assertion criteria Warburg micro syndrome 1
p.Met729_Lys730delinsIleTer No assertion criteria Warburg micro syndrome 1
p.Phe686fs No assertion criteria Warburg micro syndrome 1
p.Pro934fs No assertion criteria Warburg micro syndrome 1
p.Thr18Pro No assertion criteria Warburg micro syndrome 1 ⚠
p.Trp578Ter No assertion criteria Warburg micro syndrome 1
p.Tyr470Ter No assertion criteria Warburg micro syndrome 1

Pathogenic/Likely pathogenic 8

p.Arg174Ter Multiple submitters RAB3GAP1-related disorder
p.Arg337Ter Multiple submitters Autosomal recessive RAB3GAP1-related disorders
p.Glu493fs Multiple submitters RAB3GAP1-related disorder
p.Gly396fs Multiple submitters RAB3GAP1-related disorder
p.Ile211fs Multiple submitters Warburg micro syndrome 1
p.Lys144Ter Multiple submitters Warburg micro syndrome 1
p.Pro782fs Multiple submitters
p.Trp23Ter Multiple submitters

Likely pathogenic 19

c.18+1G>C Multiple submitters RAB3GAP1-related disorder
p.Leu460Arg Multiple submitters Warburg micro syndrome 1
c.1326+2T>G Single submitter
c.1499+1G>T Single submitter
c.19-1G>A Single submitter Martsolf syndrome 2
c.2290-17_2290del Single submitter Warburg micro syndrome 1
c.2290-1G>C Single submitter
c.648+1G>C Single submitter
c.973+1G>C Single submitter
p.Cys181fs Single submitter Warburg micro syndrome 1
p.Leu140fs Single submitter Warburg micro syndrome 1
p.Leu324fs Single submitter
p.Leu798fs Single submitter Warburg micro syndrome 1
p.Ser400Ter Single submitter Warburg micro syndrome 1
p.Ser797fs Single submitter Martsolf syndrome 2
p.Thr564_Asp565insTer Single submitter Warburg micro syndrome 1
p.Trp740fs Single submitter Martsolf syndrome 2
p.Tyr707Ter Single submitter
p.Gln99fs No assertion criteria Warburg micro syndrome

Conflicting classifications of pathogenicity 14

c.1555-8_1555-4del Single submitter
c.18+4A>G Single submitter
c.*255T>G Single submitter Warburg micro syndrome 1
p.Ala538Thr Single submitter Inborn genetic diseases ⚠
p.Arg892Ser Single submitter ⚠
p.Asp137= Single submitter Warburg micro syndrome 1
p.Cys272= Single submitter
p.Gly88fs Single submitter Warburg micro syndrome 1
p.Leu842Phe Single submitter Inborn genetic diseases ⚠
p.Pro423Arg Single submitter Warburg micro syndrome 1 ⚠
p.Pro933Leu Single submitter ⚠
p.Pro934Ser Single submitter
p.Tyr242His Single submitter Inborn genetic diseases ⚠
p.Val80Ala Single submitter Warburg micro syndrome 1 ⚠

Benign 52

c.1066+111C>T Multiple submitters
c.1067-44G>T Multiple submitters
c.1326+54G>C Multiple submitters
c.150+150A>T Multiple submitters
c.2290-17C>T Multiple submitters
c.2290-34C>T Multiple submitters
c.2709+24C>A Multiple submitters
c.749-79T>C Multiple submitters
c.*1077T>C Multiple submitters Warburg micro syndrome 1
c.*135C>G Multiple submitters Warburg micro syndrome 1
c.*171G>A Multiple submitters Warburg micro syndrome 1
c.*1826G>C Multiple submitters Warburg micro syndrome 1
c.*404C>T Multiple submitters Warburg micro syndrome 1
c.*992G>A Multiple submitters Warburg micro syndrome 1
c.*995T>C Multiple submitters Warburg micro syndrome 1
p.Arg347= Multiple submitters Warburg micro syndrome 1
p.Asn598Ser Multiple submitters Martsolf syndrome 2
p.Ile305Val Multiple submitters Warburg micro syndrome 1
p.Leu223Phe Multiple submitters Warburg micro syndrome 1
p.Phe755= Multiple submitters Martsolf syndrome 2
p.Ser664= Multiple submitters Warburg micro syndrome 1
p.Val119= Multiple submitters Warburg micro syndrome 1
c.1066+19del Single submitter
c.1067-229T>C Single submitter
c.1067-5del Single submitter
c.1327-150T>C Single submitter
c.1500-150C>T Single submitter
c.2607-325T>A Single submitter
c.2710-1113T>G Single submitter
c.2710-1152del Single submitter
c.2710-1153_2710-1152dup Single submitter
c.284-235A>G Single submitter
c.363-307A>T Single submitter
c.363-313A>T Single submitter
c.363-315A>T Single submitter
c.363-316CA[13] Single submitter
c.363-316CA[15] Single submitter
c.363-316CA[18] Single submitter
c.363-316CA[19] Single submitter
c.363-325_363-314del Single submitter
c.363-335TC[6] Single submitter
c.482+224A>G Single submitter
c.483-140C>A Single submitter
c.74+294C>T Single submitter
c.830+172C>T Single submitter
c.830+273A>T Single submitter
c.831-283G>A Single submitter
c.973+261G>C Single submitter
c.974-10dup Single submitter
c.974-38del Single submitter
c.*1378T>C Single submitter Warburg micro syndrome 1
c.*261dup Single submitter

Benign/Likely benign 11

c.1066+19dup Multiple submitters
c.2490+19C>T Multiple submitters
c.974-11_974-10del Multiple submitters
p.Arg336Cys Multiple submitters Warburg micro syndrome 1
p.Leu798= Multiple submitters
p.Lys213= Multiple submitters
p.Phe821= Multiple submitters Warburg micro syndrome 1
p.Phe968= Multiple submitters
p.Pro934Ala Multiple submitters Warburg micro syndrome 1
p.Ser141= Multiple submitters
p.Tyr442Cys Multiple submitters Warburg micro syndrome 1

Likely benign 195

c.1066+20A>G Multiple submitters
c.1236+32A>G Multiple submitters
c.1326+15A>C Multiple submitters
c.1327-71C>T Multiple submitters
c.150+180G>A Multiple submitters
c.1923+13A>C Multiple submitters
c.1924-93T>C Multiple submitters
c.2290-14T>C Multiple submitters
c.2491-33C>T Multiple submitters
c.2710-662T>C Multiple submitters
c.2710-704C>T Multiple submitters
c.482+18A>G Multiple submitters
c.649-137T>C Multiple submitters
c.830+136C>T Multiple submitters
c.*303G>A Multiple submitters Warburg micro syndrome 1
p.Ala282= Multiple submitters
p.Asp930= Multiple submitters
p.Cys588= Multiple submitters
p.Gln247= Multiple submitters
p.Ile713Thr Multiple submitters Inborn genetic diseases
p.Leu48= Multiple submitters
p.Lys573= Multiple submitters
p.Lys89= Multiple submitters Warburg micro syndrome 1
p.Phe127= Multiple submitters
p.Pro436Leu Multiple submitters Warburg micro syndrome 1
p.Ser381= Multiple submitters
p.Ser581= Multiple submitters
p.Ser927= Multiple submitters
p.Thr428= Multiple submitters
p.Thr883= Multiple submitters
c.1067-15C>T Single submitter
c.1067-4A>G Single submitter
c.1236+10T>G Single submitter
c.1236+12T>C Single submitter
c.1236+16G>A Single submitter
c.1236+257G>C Single submitter
c.1237-244T>C Single submitter
c.1237-81_1237-78del Single submitter
c.1326+45G>A Single submitter
c.1326+6_1326+8del Single submitter
c.1326+9A>T Single submitter
c.1327-127T>A Single submitter
c.1499+20A>G Single submitter
c.150+14G>T Single submitter
c.150+175T>C Single submitter
c.150+206TA[3] Single submitter
c.150+224TA[9] Single submitter
c.1500-13C>A Single submitter
c.1500-4A>G Single submitter
c.151-13T>C Single submitter
c.151-19A>G Single submitter
c.151-4A>G Single submitter
c.1554+114T>C Single submitter
c.1555-13C>G Single submitter
c.18+16C>T Single submitter
c.18+8C>A Single submitter
c.18+8C>T Single submitter
c.19-10C>G Single submitter
c.19-11C>T Single submitter
c.19-12C>T Single submitter
c.19-13C>T Single submitter
c.19-17C>T Single submitter
c.19-5del Single submitter
c.1923+11C>T Single submitter
c.1924-11G>A Single submitter
c.1924-16C>G Single submitter
c.2061+18A>G Single submitter
c.2061+7C>T Single submitter
c.2062-12G>A Single submitter
c.2062-14T>G Single submitter
c.2062-20A>G Single submitter
c.2062-20A>T Single submitter
c.2062-8T>C Single submitter
c.2289+19T>C Single submitter
c.2289+20C>T Single submitter
c.2290-10C>T Single submitter
c.2290-33G>A Single submitter
c.2290-9C>T Single submitter
c.2386+10A>T Single submitter
c.2387-11T>C Single submitter
c.2490+11T>G Single submitter
c.2491-10C>T Single submitter
c.2491-10del Single submitter
c.2491-5G>A Single submitter
c.2491-6C>T Single submitter
c.2606+16C>T Single submitter
c.2606+19A>G Single submitter
c.2607-8T>G Single submitter
c.2709+8del Single submitter
c.2709+9G>T Single submitter
c.2710-20A>G Single submitter
c.2710-24_2710-12del Single submitter
c.283+13T>C Single submitter
c.362+10T>G Single submitter
c.362+20A>G Single submitter
c.362+7A>G Single submitter
c.362+9A>T Single submitter
c.363-12T>A Single submitter
c.363-13T>A Single submitter
c.363-309A>T Single submitter
c.363-316_363-315insTCACACAC Single submitter
c.363-316CA[16] Single submitter
c.363-319_363-312del Single submitter
c.363-319_363-314del Single submitter
c.363-319T>A Single submitter
c.363-323_363-314del Single submitter
c.363-335TC[11] Single submitter
c.482+148C>T Single submitter
c.649-11G>A Single submitter
c.74+135C>T Single submitter
c.74+136C>T Single submitter
c.74+14A>G Single submitter
c.74+15T>A Single submitter
c.74+8A>T Single submitter
c.748+14G>C Single submitter
c.748+17C>T Single submitter
c.748+18T>G Single submitter
c.749-258A>G Single submitter
c.75-11C>T Single submitter
c.830+19C>T Single submitter
c.831-11A>T Single submitter
c.831-14T>G Single submitter
c.831-6T>C Single submitter
c.899+19G>A Single submitter
c.900-13G>A Single submitter
c.973+15G>C Single submitter
c.974-14T>C Single submitter
c.974-20T>A Single submitter
c.-53C>G Single submitter
c.*170C>T Single submitter Warburg micro syndrome 1
p.Ala134= Single submitter
p.Ala155= Single submitter
p.Arg196= Single submitter
p.Arg337= Single submitter
p.Arg923= Single submitter
p.Asp4= Single submitter
p.Asp565= Single submitter
p.Asp775= Single submitter
p.Cys873= Single submitter
p.Gln771= Single submitter
p.Glu142= Single submitter
p.Glu601= Single submitter
p.Glu642= Single submitter
p.Gly157= Single submitter
p.Gly426= Single submitter
p.Gly51= Single submitter
p.Gly569= Single submitter
p.Gly692= Single submitter
p.His170= Single submitter
p.His309= Single submitter
p.His471= Single submitter
p.Ile14= Single submitter
p.Ile169= Single submitter
p.Ile292= Single submitter
p.Ile293= Single submitter
p.Ile305= Single submitter
p.Ile746Val Single submitter Inborn genetic diseases
p.Ile770Val Single submitter Inborn genetic diseases
p.Leu209= Single submitter
p.Leu223= Single submitter
p.Leu517= Single submitter
p.Leu635= Single submitter
p.Leu780= Single submitter
p.Leu955= Single submitter
p.Lys566Thr Single submitter
p.Phe26= Single submitter
p.Phe70= Single submitter
p.Pro423= Single submitter
p.Pro47= Single submitter
p.Pro616= Single submitter
p.Pro643= Single submitter
p.Pro7= Single submitter
p.Pro933= Single submitter
p.Pro934His Single submitter Inborn genetic diseases ⚠
p.Pro946= Single submitter
p.Ser66= Single submitter
p.Ser73= Single submitter
p.Ser872= Single submitter
p.Ser961= Single submitter
p.Thr283= Single submitter
p.Thr284= Single submitter
p.Thr289= Single submitter
p.Thr341= Single submitter
p.Thr457= Single submitter
p.Thr542= Single submitter
p.Thr640= Single submitter
p.Tyr767= Single submitter
p.Val80= Single submitter
c.649-3T>C No assertion criteria RAB3GAP1-related disorder
c.75-8C>T No assertion criteria RAB3GAP1-related disorder
c.*2TCT[1] No assertion criteria RAB3GAP1-related disorder
c.*3C>T No assertion criteria RAB3GAP1-related disorder
p.Arg509= No assertion criteria RAB3GAP1-related disorder
p.Leu39= No assertion criteria RAB3GAP1-related disorder
p.Val328= No assertion criteria RAB3GAP1-related disorder

Uncertain significance 254

c.1924-3C>T Multiple submitters Warburg micro syndrome 1
c.-4C>T Multiple submitters Warburg micro syndrome 1
c.*1107A>C Multiple submitters Warburg micro syndrome 1
c.*1397C>T Multiple submitters Warburg micro syndrome 1
c.*252T>G Multiple submitters Warburg micro syndrome 1
p.Ala538Val Multiple submitters Inborn genetic diseases ⚠
p.Ala973Thr Multiple submitters Martsolf syndrome 2
p.Arg125Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg174Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg315Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg337Gln Multiple submitters ⚠
p.Arg489His Multiple submitters ⚠
p.Arg530Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg619Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg759Trp Multiple submitters Warburg micro syndrome 1 ⚠
p.Arg778Gln Multiple submitters Warburg micro syndrome 1 ⚠
p.Arg778Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg869Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg892Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg937Gln Multiple submitters ⚠
p.Arg942Cys Multiple submitters ⚠
p.Arg947Cys Multiple submitters Warburg micro syndrome 1 ⚠
p.Arg958Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn42Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn468Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp342Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys873Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln241Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu711Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly396Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly476Glu Multiple submitters ⚠
p.His171Arg Multiple submitters Inborn genetic diseases ⚠
p.His376Arg Multiple submitters Inborn genetic diseases ⚠
p.His669Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile154Val Multiple submitters Inborn genetic diseases ⚠
p.Ile276Val Multiple submitters Inborn genetic diseases ⚠
p.Ile360Thr Multiple submitters Warburg micro syndrome 1 ⚠
p.Ile544Val Multiple submitters Inborn genetic diseases ⚠
p.Leu124= Multiple submitters Warburg micro syndrome 1
p.Leu561Val Multiple submitters Warburg micro syndrome 1 ⚠
p.Leu970Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys459Arg Multiple submitters Warburg micro syndrome 1 ⚠
p.Phe331Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro946Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser62Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser73Ala Multiple submitters Inborn genetic diseases ⚠
p.Ter982Trp Multiple submitters Martsolf syndrome 2
p.Thr409Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr430Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr545Cys Multiple submitters Inborn genetic diseases ⚠
p.Val255Gly Multiple submitters Inborn genetic diseases ⚠
p.Val312Leu Multiple submitters Inborn genetic diseases
c.1326+1G>A Single submitter
c.1499+3A>C Single submitter
c.1499+5T>C Single submitter
c.150+3C>G Single submitter
c.18+3G>C Single submitter Inborn genetic diseases
c.2289+4A>G Single submitter
c.2606+4A>G Single submitter
c.2710-855A>G Single submitter Inborn genetic diseases
c.2710-864C>A Single submitter
c.362+5G>A Single submitter
c.482+3G>A Single submitter
c.75-8_75-2del Single submitter
c.974-1G>A Single submitter
c.*1056G>A Single submitter Warburg micro syndrome 1
c.*1208dup Single submitter
c.*1209T>C Single submitter Warburg micro syndrome 1
c.*1212A>G Single submitter Warburg micro syndrome 1
c.*1247T>C Single submitter Warburg micro syndrome 1
c.*1272T>C Single submitter Warburg micro syndrome 1
c.*1511G>A Single submitter Warburg micro syndrome 1
c.*1534G>A Single submitter Warburg micro syndrome 1
c.*1543T>C Single submitter Warburg micro syndrome 1
c.*1611A>T Single submitter Warburg micro syndrome 1
c.*1693G>C Single submitter Warburg micro syndrome 1
c.*174T>C Single submitter Warburg micro syndrome 1
c.*1764C>G Single submitter Warburg micro syndrome 1
c.*1898G>A Single submitter Warburg micro syndrome 1
c.*201T>G Single submitter Warburg micro syndrome 1
c.*324T>G Single submitter Warburg micro syndrome 1
c.*346G>A Single submitter Warburg micro syndrome 1
c.*507A>G Single submitter Warburg micro syndrome 1
c.*547A>G Single submitter Warburg micro syndrome 1
c.*557T>C Single submitter Warburg micro syndrome 1
c.*647T>C Single submitter Warburg micro syndrome 1
c.*822T>G Single submitter Warburg micro syndrome 1
c.*985dup Single submitter
p.Ala131Val Single submitter Inborn genetic diseases ⚠
p.Ala133Thr Single submitter Inborn genetic diseases ⚠
p.Ala138Thr Single submitter ⚠
p.Ala155Val Single submitter Inborn genetic diseases
p.Ala2Val Single submitter Inborn genetic diseases ⚠
p.Ala358Pro Single submitter Inborn genetic diseases ⚠
p.Ala371= Single submitter Warburg micro syndrome 1
p.Ala387Thr Single submitter Inborn genetic diseases
p.Ala3Val Single submitter ⚠
p.Ala502Thr Single submitter Inborn genetic diseases ⚠
p.Ala787Thr Single submitter ⚠
p.Ala788Thr Single submitter ⚠
p.Ala905Ser Single submitter ⚠
p.Arg337Leu Single submitter Inborn genetic diseases ⚠
p.Arg347Gln Single submitter Inborn genetic diseases ⚠
p.Arg392Gln Single submitter Warburg micro syndrome 1 ⚠
p.Arg489Cys Single submitter Inborn genetic diseases ⚠
p.Arg619Gln Single submitter ⚠
p.Arg673Cys Single submitter ⚠
p.Arg700= Single submitter Warburg micro syndrome 1
p.Arg705Trp Single submitter Inborn genetic diseases ⚠
p.Arg728Trp Single submitter Inborn genetic diseases ⚠
p.Arg845Gly Single submitter Inborn genetic diseases ⚠
p.Arg847Gln Single submitter Warburg micro syndrome 1 ⚠
p.Arg887Gly Single submitter Inborn genetic diseases ⚠
p.Arg887Ile Single submitter ⚠
p.Arg937Trp Single submitter Inborn genetic diseases
p.Arg942His Single submitter ⚠
p.Arg942Pro Single submitter RAB3GAP1-related disorder ⚠
p.Arg958Leu Single submitter Inborn genetic diseases ⚠
p.Arg969Ile Single submitter Inborn genetic diseases ⚠
p.Asn382Lys Single submitter ⚠
p.Asn900Lys Single submitter ⚠
p.Asn926Ser Single submitter ⚠
p.Asp274Gly Single submitter ⚠
p.Asp4His Single submitter Inborn genetic diseases ⚠
p.Asp531Asn Single submitter Inborn genetic diseases ⚠
p.Asp559His Single submitter Inborn genetic diseases ⚠
p.Asp576Gly Single submitter Inborn genetic diseases ⚠
p.Asp756Asn Single submitter Inborn genetic diseases ⚠
p.Cys272Leu Single submitter
p.Cys522Trp Single submitter Inborn genetic diseases ⚠
p.Gln246Arg Single submitter Inborn genetic diseases ⚠
p.Gln555Glu Single submitter ⚠
p.Gln622His Single submitter ⚠
p.Gln675Arg Single submitter ⚠
p.Gln925Ter Single submitter
p.Gln99= Single submitter
p.Glu142Lys Single submitter Inborn genetic diseases ⚠
p.Glu191Lys Single submitter Inborn genetic diseases ⚠
p.Glu31Ala Single submitter ⚠
p.Glu32Asp Single submitter Inborn genetic diseases ⚠
p.Glu32Gln Single submitter Inborn genetic diseases ⚠
p.Glu32Lys Single submitter Warburg micro syndrome 1 ⚠
p.Glu582Lys Single submitter ⚠
p.Glu60Asp Single submitter Inborn genetic diseases ⚠
p.Glu760Gly Single submitter ⚠
p.Glu863del Single submitter
p.Glu94Lys Single submitter ⚠
p.Gly179Ala Single submitter Martsolf syndrome 2 ⚠
p.Gly354Asp Single submitter ⚠
p.Gly45Arg Single submitter ⚠
p.Gly500Ala Single submitter Inborn genetic diseases ⚠
p.Gly533Glu Single submitter ⚠
p.Gly692Cys Single submitter Inborn genetic diseases ⚠
p.Gly884Ser Single submitter ⚠
p.Gly891Ser Single submitter ⚠
p.His135Arg Single submitter ⚠
p.His204Arg Single submitter Inborn genetic diseases ⚠
p.His280Tyr Single submitter
p.His287Tyr Single submitter ⚠
p.His385Asp Single submitter Warburg micro syndrome 1 ⚠
p.His471Arg Single submitter Inborn genetic diseases
p.His669Tyr Single submitter ⚠
p.His766Arg Single submitter Inborn genetic diseases ⚠
p.His779_Leu780delinsAlaLeuLeuVal Single submitter
p.His779Arg Single submitter
p.His820Pro Single submitter Inborn genetic diseases ⚠
p.Ile216Met Single submitter ⚠
p.Ile375Val Single submitter ⚠
p.Ile40Thr Single submitter Inborn genetic diseases ⚠
p.Ile807Met Single submitter ⚠
p.Ile807Val Single submitter Inborn genetic diseases ⚠
p.Leu324Pro Single submitter ⚠
p.Leu364Ser Single submitter Inborn genetic diseases ⚠
p.Leu411= Single submitter Warburg micro syndrome 1
p.Leu412del Single submitter
p.Leu501Phe Single submitter Inborn genetic diseases ⚠
p.Leu508Arg Single submitter Inborn genetic diseases ⚠
p.Leu561Arg Single submitter ⚠
p.Leu589Arg Single submitter ⚠
p.Leu635Val Single submitter Inborn genetic diseases ⚠
p.Leu695Val Single submitter
p.Leu79Phe Single submitter Martsolf syndrome 2 ⚠
p.Leu79Val Single submitter Inborn genetic diseases ⚠
p.Lys213Arg Single submitter Inborn genetic diseases ⚠
p.Lys459Gln Single submitter Inborn genetic diseases ⚠
p.Lys46Asn Single submitter Inborn genetic diseases ⚠
p.Lys605Glu Single submitter Inborn genetic diseases ⚠
p.Lys744Arg Single submitter ⚠
p.Lys817Glu Single submitter ⚠
p.Met101Ile Single submitter ⚠
p.Met101Val Single submitter ⚠
p.Met176Thr Single submitter ⚠
p.Met466Ile Single submitter ⚠
p.Met646Val Single submitter ⚠
p.Met907Thr Single submitter ⚠
p.Met917Leu Single submitter ⚠
p.Phe12Ser Single submitter Warburg micro syndrome 1 ⚠
p.Phe264Leu Single submitter Inborn genetic diseases ⚠
p.Phe350Leu Single submitter Warburg micro syndrome 1 ⚠
p.Phe448Val Single submitter ⚠
p.Phe931Leu Single submitter ⚠
p.Phe980Ser Single submitter Inborn genetic diseases ⚠
p.Pro112Ser Single submitter Inborn genetic diseases ⚠
p.Pro113Ser Single submitter Inborn genetic diseases ⚠
p.Pro132Ser Single submitter ⚠
p.Pro199Gln Single submitter ⚠
p.Pro219Ala Single submitter Inborn genetic diseases ⚠
p.Pro219Ser Single submitter Inborn genetic diseases ⚠
p.Pro224Leu Single submitter ⚠
p.Pro275Ser Single submitter ⚠
p.Pro401Leu Single submitter Inborn genetic diseases
p.Pro499Ser Single submitter ⚠
p.Pro505Ser Single submitter Inborn genetic diseases ⚠
p.Pro643Ser Single submitter ⚠
p.Pro691Thr Single submitter Inborn genetic diseases ⚠
p.Pro822Arg Single submitter ⚠
p.Pro824Ala Single submitter ⚠
p.Pro920Ser Single submitter Inborn genetic diseases ⚠
p.Pro934Thr Single submitter Warburg micro syndrome 1
p.Ser100Cys Single submitter Inborn genetic diseases ⚠
p.Ser227Arg Single submitter Inborn genetic diseases ⚠
p.Ser503Arg Single submitter ⚠
p.Ser797Arg Single submitter Inborn genetic diseases ⚠
p.Ser802Tyr Single submitter Inborn genetic diseases ⚠
p.Ser803Leu Single submitter ⚠
p.Ser813Ala Single submitter Inborn genetic diseases ⚠
p.Ser816Asn Single submitter Inborn genetic diseases ⚠
p.Ser961Gly Single submitter Inborn genetic diseases ⚠
p.Thr15Ala Single submitter ⚠
p.Thr283Ala Single submitter ⚠
p.Thr284Ala Single submitter Warburg micro syndrome 1 ⚠
p.Thr284Lys Single submitter Inborn genetic diseases ⚠
p.Thr341Ala Single submitter Inborn genetic diseases ⚠
p.Thr663= Single submitter
p.Thr944Asn Single submitter Warburg micro syndrome 1 ⚠
p.Trp23Arg Single submitter RAB3GAP1-related disorder ⚠
p.Trp701Cys Single submitter Inborn genetic diseases ⚠
p.Tyr202Cys Single submitter Inborn genetic diseases
p.Tyr442His Single submitter Inborn genetic diseases ⚠
p.Tyr445His Single submitter Inborn genetic diseases ⚠
p.Tyr636Asn Single submitter Inborn genetic diseases ⚠
p.Tyr951Cys Single submitter ⚠
p.Tyr951del Single submitter
p.Val119Leu Single submitter
p.Val128Met Single submitter
p.Val477Met Single submitter Inborn genetic diseases ⚠
p.Val764Leu Single submitter ⚠
p.Val792Ile Single submitter Inborn genetic diseases ⚠
p.Val804Ala Single submitter ⚠
p.Val80Ile Single submitter Inborn genetic diseases ⚠
p.Val928Met Single submitter ⚠
c.831-1G>A No assertion criteria
p.Arg947His No assertion criteria amenorrhea ⚠
p.Glu863Ala No assertion criteria ⚠