GORAB — 393 ClinVar variants
All ClinVar germline GORAB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
32 Pathogenic · 8 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 10 Conflicting · 24 Benign · 3 Benign/Likely benign · 157 Likely benign · 153 Uncertain significance
Full GORAB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll GORAB variants
Pathogenic 32
- p.Arg35Ter Multiple submitters Inborn genetic diseases
- p.Gln64Ter Multiple submitters geroderma osteodysplasticum
- c.-11G>A Single submitter
- c.-19dup Single submitter
- c.-23G>A Single submitter
- p.Ala165fs Single submitter
- p.Ala220Pro Single submitter geroderma osteodysplasticum
- p.Ala227fs Single submitter
- p.Arg187fs Single submitter
- p.Arg27Ter Single submitter
- p.Arg72fs Single submitter
- p.Asn74fs Single submitter
- p.Gln101Ter Single submitter
- p.Gln106Ter Single submitter geroderma osteodysplasticum
- p.Gln18fs Single submitter
- p.Gln3Ter Single submitter
- p.Gln47Ter Single submitter
- p.Gln71fs Single submitter
- p.Glu123Ter Single submitter geroderma osteodysplasticum
- p.Glu152fs Single submitter
- p.Glu243fs Single submitter
- p.Glu46Ter Single submitter
- p.Lys137Ter Single submitter
- p.Lys161fs Single submitter
- p.Lys186fs Single submitter
- p.Lys70fs Single submitter
- p.Pro78fs Single submitter geroderma osteodysplasticum
- p.Ser93fs Single submitter
- p.Thr249fs Single submitter
- p.Tyr217fs Single submitter
- p.Val138fs Single submitter
- c.662+5G>C No assertion criteria geroderma osteodysplasticum
Pathogenic/Likely pathogenic 8
- c.420-2A>T Multiple submitters
- p.Ala2fs Multiple submitters geroderma osteodysplasticum
- p.Arg262Ter Multiple submitters geroderma osteodysplasticum
- p.Arg40Ter Multiple submitters geroderma osteodysplasticum
- p.Lys137fs Multiple submitters geroderma osteodysplasticum
- p.Pro86fs Multiple submitters geroderma osteodysplasticum
- p.Trp5Ter Multiple submitters
- p.Met(?_1 No assertion criteria geroderma osteodysplasticum
Likely pathogenic 6
Conflicting classifications of pathogenicity 10
- c.522-9A>T Single submitter geroderma osteodysplasticum
- c.61+13G>T Single submitter geroderma osteodysplasticum
- c.-15C>T Single submitter Inborn genetic diseases
- c.-48dup Single submitter Inborn genetic diseases
- c.-57T>C Single submitter geroderma osteodysplasticum
- p.Ala31Val Single submitter Inborn genetic diseases
- p.Arg28His Single submitter geroderma osteodysplasticum
- p.Cys355Phe Single submitter geroderma osteodysplasticum
- p.Thr92= Single submitter geroderma osteodysplasticum
- p.Val318= Single submitter
Benign 24
- p.Gly7= Multiple submitters geroderma osteodysplasticum
- c.420-28T>C Multiple submitters
- c.61+150A>G Multiple submitters
- c.61+17A>C Multiple submitters geroderma osteodysplasticum
- c.61+31C>T Multiple submitters
- c.62-3T>C Multiple submitters geroderma osteodysplasticum
- c.662+46A>G Multiple submitters
- c.*1064T>A Multiple submitters geroderma osteodysplasticum
- c.*47T>G Multiple submitters geroderma osteodysplasticum
- c.*534T>C Multiple submitters geroderma osteodysplasticum
- p.Glu295Lys Multiple submitters geroderma osteodysplasticum
- p.Tyr219= Multiple submitters geroderma osteodysplasticum
- c.419+53dup Single submitter
- c.420-10dup Single submitter
- c.521+193T>C Single submitter
- c.522-5dup Single submitter
- c.61+97del Single submitter
- c.*1065A>T Single submitter geroderma osteodysplasticum
- c.*1217T>C Single submitter geroderma osteodysplasticum
- c.*1298T>C Single submitter geroderma osteodysplasticum
- c.*883G>A Single submitter geroderma osteodysplasticum
- c.*884C>A Single submitter geroderma osteodysplasticum
- p.Asn344= Single submitter
- p.Gly7= Single submitter
Benign/Likely benign 3
- c.663-12A>G Multiple submitters geroderma osteodysplasticum
- p.His294= Multiple submitters
- p.Leu206= Multiple submitters geroderma osteodysplasticum
Likely benign 157
- c.420-20del Multiple submitters
- p.Ala314= Multiple submitters
- p.Arg240His Multiple submitters geroderma osteodysplasticum
- p.Asn74= Multiple submitters
- p.Glu331= Multiple submitters
- p.Gly96= Multiple submitters
- p.His116= Multiple submitters
- p.Leu285= Multiple submitters
- p.Phe224Leu Multiple submitters Inborn genetic diseases
- p.Pro30= Multiple submitters
- p.Ser93= Multiple submitters
- c.419+10T>C Single submitter
- c.419+11C>T Single submitter
- c.419+13_419+14del Single submitter
- c.419+13A>G Single submitter
- c.419+15G>C Single submitter
- c.419+17G>C Single submitter
- c.419+7A>G Single submitter
- c.420-10T>C Single submitter
- c.420-11T>C Single submitter
- c.420-17C>T Single submitter
- c.420-20A>T Single submitter
- c.420-6C>T Single submitter
- c.521+16C>T Single submitter
- c.521+18G>A Single submitter
- c.521+7C>A Single submitter
- c.521+9C>T Single submitter
- c.522-12C>G Single submitter
- c.522-14A>G Single submitter
- c.522-16A>G Single submitter
- c.522-19C>T Single submitter
- c.61+12G>C Single submitter
- c.61+15T>G Single submitter
- c.61+17A>G Single submitter
- c.61+7A>G Single submitter
- c.61+8G>A Single submitter
- c.62-11_62-9del Single submitter
- c.62-11C>G Single submitter
- c.62-11C>T Single submitter
- c.62-12T>G Single submitter
- c.62-14T>A Single submitter
- c.62-16A>C Single submitter
- c.62-16A>G Single submitter
- c.62-20C>T Single submitter
- c.62-4A>G Single submitter
- c.662+10G>A Single submitter
- c.662+14A>G Single submitter
- c.662+9G>A Single submitter
- c.663-16A>G Single submitter
- c.663-17T>G Single submitter
- c.663-19T>G Single submitter
- c.663-4A>G Single submitter
- c.663-5T>G Single submitter
- c.-13G>A Single submitter
- c.-19G>C Single submitter
- c.-25T>C Single submitter
- c.-40G>C Single submitter
- c.-46G>A Single submitter
- c.-46G>T Single submitter
- c.-49C>T Single submitter
- c.-4G>A Single submitter
- p.Ala165= Single submitter
- p.Ala168= Single submitter
- p.Ala172= Single submitter
- p.Ala180= Single submitter
- p.Ala201= Single submitter
- p.Ala278= Single submitter
- p.Ala31= Single submitter
- p.Ala323= Single submitter
- p.Ala333= Single submitter
- p.Arg14= Single submitter
- p.Arg162= Single submitter
- p.Arg187= Single submitter
- p.Arg223= Single submitter
- p.Arg226= Single submitter
- p.Arg240= Single submitter
- p.Arg35= Single submitter
- p.Arg40= Single submitter
- p.Asn114= Single submitter
- p.Asn326= Single submitter
- p.Asn361= Single submitter
- p.Asp196= Single submitter
- p.Asp21= Single submitter
- p.Asp237= Single submitter
- p.Asp275= Single submitter
- p.Asp279= Single submitter
- p.Asp340Glu Single submitter Inborn genetic diseases
- p.Gln150= Single submitter
- p.Gln247= Single submitter
- p.Gln257= Single submitter
- p.Gln258= Single submitter
- p.Gln3= Single submitter
- p.Gln330= Single submitter
- p.Gln36= Single submitter
- p.Gln99= Single submitter
- p.Glu173= Single submitter
- p.Glu191= Single submitter
- p.Glu230= Single submitter
- p.Glu246= Single submitter
- p.Glu260= Single submitter
- p.Glu277= Single submitter
- p.Glu281= Single submitter
- p.Glu286= Single submitter
- p.Glu308= Single submitter
- p.Glu321= Single submitter
- p.Glu46= Single submitter
- p.Gly52= Single submitter geroderma osteodysplasticum
- p.Gly56= Single submitter
- p.His119= Single submitter
- p.His251= Single submitter
- p.His88= Single submitter
- p.Ile103= Single submitter
- p.Ile188= Single submitter
- p.Ile232= Single submitter
- p.Leu110= Single submitter
- p.Leu125= Single submitter
- p.Leu133= Single submitter
- p.Leu236= Single submitter
- p.Leu270= Single submitter
- p.Leu274= Single submitter
- p.Leu293= Single submitter
- p.Leu351= Single submitter
- p.Leu44= Single submitter
- p.Lys164= Single submitter
- p.Lys222Arg Single submitter
- p.Lys265= Single submitter
- p.Lys266= Single submitter
- p.Lys337= Single submitter
- p.Phe23= Single submitter
- p.Phe311= Single submitter
- p.Phe8= Single submitter
- p.Pro100= Single submitter
- p.Pro127= Single submitter
- p.Pro22= Single submitter
- p.Pro310= Single submitter
- p.Pro349= Single submitter
- p.Pro356= Single submitter
- p.Pro78= Single submitter
- p.Pro79= Single submitter
- p.Pro86= Single submitter
- p.Pro94= Single submitter
- p.Pro94Ala Single submitter geroderma osteodysplasticum
- p.Ser347= Single submitter
- p.Ser67= Single submitter
- p.Ser9= Single submitter
- p.Thr19= Single submitter
- p.Thr242= Single submitter
- p.Thr249= Single submitter
- p.Thr254= Single submitter
- p.Thr319= Single submitter
- p.Thr58= Single submitter
- p.Val276= Single submitter
- p.Val289= Single submitter
- p.Val298= Single submitter
- p.Val305= Single submitter
- p.Val338= Single submitter
- p.Val45= Single submitter
Uncertain significance 153
- c.-21G>A Multiple submitters Inborn genetic diseases
- c.-28C>G Multiple submitters Inborn genetic diseases
- c.-53C>A Multiple submitters geroderma osteodysplasticum
- p.Ala220Thr Multiple submitters Inborn genetic diseases
- p.Ala314Val Multiple submitters geroderma osteodysplasticum
- p.Ala31Thr Multiple submitters Inborn genetic diseases
- p.Arg145His Multiple submitters Inborn genetic diseases
- p.Arg154Gln Multiple submitters geroderma osteodysplasticum
- p.Arg187Gln Multiple submitters geroderma osteodysplasticum
- p.Arg187Trp Multiple submitters Inborn genetic diseases
- p.Arg209Gln Multiple submitters Inborn genetic diseases
- p.Arg209Trp Multiple submitters GORAB-related disorder
- p.Arg221Gln Multiple submitters
- p.Arg223Pro Multiple submitters geroderma osteodysplasticum
- p.Arg27Gly Multiple submitters Inborn genetic diseases
- p.Arg28Cys Multiple submitters geroderma osteodysplasticum
- p.Arg306Cys Multiple submitters
- p.Asp130Asn Multiple submitters Inborn genetic diseases
- p.Asp216Glu Multiple submitters geroderma osteodysplasticum
- p.Gln272Glu Multiple submitters
- p.Glu269Lys Multiple submitters geroderma osteodysplasticum
- p.Glu290Lys Multiple submitters Inborn genetic diseases
- p.Glu63Gly Multiple submitters geroderma osteodysplasticum
- p.Leu261His Multiple submitters geroderma osteodysplasticum
- p.Leu307Ter Multiple submitters geroderma osteodysplasticum
- p.Lys136Asn Multiple submitters Inborn genetic diseases
- p.Lys70Glu Multiple submitters Inborn genetic diseases
- p.Phe8Leu Multiple submitters geroderma osteodysplasticum
- p.Pro30Ala Multiple submitters
- p.Pro30His Multiple submitters Inborn genetic diseases
- p.Pro79Arg Multiple submitters geroderma osteodysplasticum
- p.Pro86Leu Multiple submitters Inborn genetic diseases
- p.Ser335fs Multiple submitters Inborn genetic diseases
- p.Ser48Cys Multiple submitters Inborn genetic diseases
- p.Thr92Ala Multiple submitters geroderma osteodysplasticum
- p.Tyr217His Multiple submitters geroderma osteodysplasticum
- p.Val287Leu Multiple submitters Inborn genetic diseases
- p.Val318Met Multiple submitters geroderma osteodysplasticum
- p.Val75Ile Multiple submitters Inborn genetic diseases
- p.Val95Ala Multiple submitters
- p.Val95Ile Multiple submitters Inborn genetic diseases
- c.522-3T>C Single submitter
- c.-12T>G Single submitter
- c.-20G>T Single submitter
- c.-24T>C Single submitter geroderma osteodysplasticum
- c.-2C>T Single submitter
- c.-35T>A Single submitter
- c.-38G>T Single submitter
- c.-39A>G Single submitter Inborn genetic diseases
- c.-44C>T Single submitter Inborn genetic diseases
- c.-50T>G Single submitter
- c.-6G>A Single submitter
- c.*102G>A Single submitter geroderma osteodysplasticum
- c.*1039A>G Single submitter geroderma osteodysplasticum
- c.*1063T>A Single submitter geroderma osteodysplasticum
- c.*1127T>G Single submitter geroderma osteodysplasticum
- c.*1160G>A Single submitter geroderma osteodysplasticum
- c.*1305T>C Single submitter geroderma osteodysplasticum
- c.*222G>T Single submitter geroderma osteodysplasticum
- c.*349G>A Single submitter geroderma osteodysplasticum
- c.*404A>G Single submitter geroderma osteodysplasticum
- c.*598A>G Single submitter geroderma osteodysplasticum
- c.*612A>G Single submitter geroderma osteodysplasticum
- c.*653T>C Single submitter geroderma osteodysplasticum
- c.*771A>T Single submitter geroderma osteodysplasticum
- c.*803T>C Single submitter geroderma osteodysplasticum
- c.*818A>G Single submitter geroderma osteodysplasticum
- c.*944A>G Single submitter geroderma osteodysplasticum
- c.*980A>T Single submitter geroderma osteodysplasticum
- c.*998A>G Single submitter geroderma osteodysplasticum
- p.Ala172Thr Single submitter
- p.Ala180Val Single submitter
- p.Ala194Gly Single submitter Inborn genetic diseases
- p.Ala264Ser Single submitter
- p.Ala314Gly Single submitter
- p.Ala333Val Single submitter
- p.Ala368Val Single submitter Inborn genetic diseases
- p.Arg145Leu Single submitter
- p.Arg154Trp Single submitter Inborn genetic diseases
- p.Arg162Cys Single submitter
- p.Arg162His Single submitter
- p.Arg177Gly Single submitter
- p.Arg177Lys Single submitter
- p.Arg221Trp Single submitter
- p.Arg223Gln Single submitter
- p.Arg223Trp Single submitter
- p.Arg226Lys Single submitter
- p.Arg240Cys Single submitter
- p.Arg262Gln Single submitter geroderma osteodysplasticum
- p.Arg291Gly Single submitter
- p.Arg306His Single submitter
- p.Arg306Leu Single submitter Inborn genetic diseases
- p.Arg309Ser Single submitter
- p.Arg40Gln Single submitter
- p.Asn114Tyr Single submitter geroderma osteodysplasticum
- p.Asn120Asp Single submitter
- p.Asn326Tyr Single submitter
- p.Asn354Lys Single submitter
- p.Asp130Gly Single submitter
- p.Asp196Gly Single submitter Inborn genetic diseases
- p.Asp202Asn Single submitter Inborn genetic diseases
- p.Asp211His Single submitter
- p.Asp21Tyr Single submitter geroderma osteodysplasticum
- p.Asp55Gly Single submitter
- p.Cys342Tyr Single submitter Inborn genetic diseases
- p.Gln247Glu Single submitter Inborn genetic diseases
- p.Gln258Pro Single submitter Inborn genetic diseases
- p.Gln26His Single submitter Inborn genetic diseases
- p.Gln272Arg Single submitter Inborn genetic diseases
- p.Gln312Ter Single submitter
- p.Gln358Glu Single submitter Inborn genetic diseases
- p.Glu123Gly Single submitter Inborn genetic diseases
- p.Glu24Val Single submitter
- p.Glu269Asp Single submitter Inborn genetic diseases
- p.Glu288Val Single submitter
- p.Ile171Val Single submitter
- p.Ile232Val Single submitter
- p.Ile256Val Single submitter Inborn genetic diseases
- p.Leu166Val Single submitter Inborn genetic diseases
- p.Leu192Phe Single submitter
- p.Leu270Phe Single submitter
- p.Leu38Arg Single submitter geroderma osteodysplasticum
- p.Leu38Phe Single submitter
- p.Leu44Phe Single submitter
- p.Lys137Glu Single submitter
- p.Lys161Asn Single submitter
- p.Lys266Gln Single submitter
- p.Lys324Glu Single submitter
- p.Met183Ile Single submitter Inborn genetic diseases
- p.Met1Ile Single submitter
- p.Met271Ile Single submitter Inborn genetic diseases
- p.Phe89Leu Single submitter
- p.Pro126Ala Single submitter
- p.Pro30_Ser57delinsGluValSerGly Single submitter
- p.Pro30Thr Single submitter
- p.Pro349Leu Single submitter
- p.Pro356Ser Single submitter Inborn genetic diseases
- p.Pro62Gln Single submitter Inborn genetic diseases
- p.Pro86_Ser87delinsArgGly Single submitter
- p.Ser317Asn Single submitter
- p.Ser347Asn Single submitter
- p.Ser87Asn Single submitter
- p.Thr249Ala Single submitter Inborn genetic diseases
- p.Thr254Met Single submitter
- p.Thr84Ala Single submitter
- p.Thr84Ile Single submitter Inborn genetic diseases
- p.Tyr231Asp Single submitter Inborn genetic diseases
- p.Val199Ala Single submitter
- p.Val199Gly Single submitter geroderma osteodysplasticum
- p.Val199Met Single submitter Inborn genetic diseases
- p.Val298Glu Single submitter Inborn genetic diseases
- p.Val73Ile Single submitter
- p.Ser364Ter No assertion criteria