CDT1 — 521 ClinVar variants
All ClinVar germline CDT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →
18 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 16 Conflicting · 43 Benign · 11 Benign/Likely benign · 181 Likely benign · 244 Uncertain significance
Full CDT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 255
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CDT1 p.Arg462Gln
Pathogenic/Likely pathogenic
Multiple submitters
Meier-Gorlin syndrome
-
CDT1 p.Ala66Thr
Pathogenic
No assertion criteria
Meier-Gorlin syndrome 4
-
CDT1 p.Gln117His
Pathogenic
No assertion criteria
Meier-Gorlin syndrome 4
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CDT1 p.Lys141Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CDT1 p.Pro471Ala
Conflicting
Single submitter
Meier-Gorlin syndrome 4
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CDT1 p.Ala11Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala144Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala167Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala414Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala90Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Arg131Gln Uncertain significance Multiple submitters
-
CDT1 p.Arg228His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Arg290Cys Uncertain significance Multiple submitters
-
CDT1 p.Arg366Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Gln293Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Glu308Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Glu344Lys Uncertain significance Multiple submitters
-
CDT1 p.Gly106Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Gly157Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Gly16Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Gly393Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Gly58Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.His309Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Leu269Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Leu370Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Pro179Thr Uncertain significance Multiple submitters
-
CDT1 p.Pro442Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Pro53Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ser93Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Val137Leu Uncertain significance Multiple submitters
-
CDT1 p.Val521Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Val74Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala124Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala144Thr Uncertain significance Single submitter
-
CDT1 p.Ala147Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala155Thr Uncertain significance Single submitter
-
CDT1 p.Ala217Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ala282Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala283Thr Uncertain significance Single submitter
-
CDT1 p.Ala320Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ala39Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala51Ser Uncertain significance Single submitter
- CDT1 p.Ala530Thr Uncertain significance Single submitter
- CDT1 p.Ala537Thr Uncertain significance Single submitter
-
CDT1 p.Ala56Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala62Thr Uncertain significance Single submitter
-
CDT1 p.Ala85Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg230His Uncertain significance Single submitter
- CDT1 p.Arg295Pro Uncertain significance Single submitter
-
CDT1 p.Arg34Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg459Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg71Leu Uncertain significance Single submitter
- CDT1 p.Asn369Asp Uncertain significance Single submitter
- CDT1 p.Asp508Glu Uncertain significance Single submitter
-
CDT1 p.Asp87Gly
Uncertain significance
Single submitter
Meier-Gorlin syndrome 4
-
CDT1 p.Cys234Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Cys27Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Cys487Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gln115Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gln277Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gln96Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Glu122Lys Uncertain significance Single submitter
-
CDT1 p.Glu165Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Glu212Lys Uncertain significance Single submitter
-
CDT1 p.Glu278Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Glu2Lys Uncertain significance Single submitter
-
CDT1 p.Glu452Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gly148Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gly95Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.His538Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ile20Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ile20Val Uncertain significance Single submitter
- CDT1 p.Ile271Val Uncertain significance Single submitter
-
CDT1 p.Ile489Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ile98Thr Uncertain significance Single submitter
- CDT1 p.Leu181Pro Uncertain significance Single submitter
- CDT1 p.Leu399Pro Uncertain significance Single submitter
-
CDT1 p.Lys189Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Lys470Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Lys97Asn Uncertain significance Single submitter
-
CDT1 p.Lys99Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Met321Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Met321Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Met438Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Met475Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Met495Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Phe231Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Pro162Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Pro17Ser Uncertain significance Single submitter
- CDT1 p.Pro214Ser Uncertain significance Single submitter
-
CDT1 p.Pro408Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Pro54Ser Uncertain significance Single submitter
-
CDT1 p.Ser246Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ser390Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Thr102Pro Uncertain significance Single submitter
- CDT1 p.Thr213Met Uncertain significance Single submitter
- CDT1 p.Thr517Ala Uncertain significance Single submitter
- CDT1 p.Tyr520Cys Uncertain significance Single submitter
-
CDT1 p.Val236Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Val322Ala Uncertain significance Single submitter
-
CDT1 p.Val464Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Val466Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Val483Ala Uncertain significance Single submitter
- CDT1 p.Val521Ile Uncertain significance Single submitter
Predictors split 151
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 151
- CDT1 p.Ala135Val Benign Multiple submitters
-
CDT1 p.Ala217Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala431Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala534Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Ala537Val Benign Multiple submitters
-
CDT1 p.Arg131Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Arg138Trp Uncertain significance Multiple submitters
-
CDT1 p.Arg158Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Arg198Cys Benign Multiple submitters
-
CDT1 p.Arg198His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg250Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg250His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg253Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg295Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg366Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg425Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg425Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg440Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg440Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg450Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg450His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg4Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg4Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Arg514Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Arg535His Uncertain significance Multiple submitters
-
CDT1 p.Asn235Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Asp342Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Asp518Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Cys441Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Glu272Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Glu445Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Glu456Ala Benign/Likely benign Multiple submitters
-
CDT1 p.Glu504Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Gly261Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Gly281Arg
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 4
- CDT1 p.Ile515Val Uncertain significance Multiple submitters
-
CDT1 p.Lys497Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Pro244Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Pro333Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Pro345Leu Uncertain significance Multiple submitters
-
CDT1 p.Pro400Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Pro407Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Pro408Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Pro83Leu
Benign/Likely benign
Multiple submitters
Meier-Gorlin syndrome 4
-
CDT1 p.Ser211Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDT1 p.Ser491Asn Benign Multiple submitters
-
CDT1 p.Thr287Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Val204Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Val460Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDT1 p.Ala147Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ala169Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala194Val Likely benign Single submitter
-
CDT1 p.Ala315Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ala33Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ala367Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ala378Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala388Glu Uncertain significance Single submitter
- CDT1 p.Ala401Thr Uncertain significance Single submitter
-
CDT1 p.Ala401Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ala410Val Uncertain significance Single submitter
- CDT1 p.Ala428Val Uncertain significance Single submitter
-
CDT1 p.Ala51Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg13Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg158His Likely benign Single submitter
-
CDT1 p.Arg172Cys
Conflicting
Single submitter
Inborn genetic diseases
- CDT1 p.Arg172His Uncertain significance Single submitter
- CDT1 p.Arg19His Uncertain significance Single submitter
-
CDT1 p.Arg228Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg228Leu Uncertain significance Single submitter
- CDT1 p.Arg248Cys Uncertain significance Single submitter
- CDT1 p.Arg253His Conflicting Single submitter
-
CDT1 p.Arg334Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg385Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg427Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg447Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg447Trp Uncertain significance Single submitter
-
CDT1 p.Arg453Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg453Trp
Conflicting
Single submitter
Meier-Gorlin syndrome 4
-
CDT1 p.Arg459Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg462Trp Uncertain significance Single submitter
-
CDT1 p.Arg469Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg469His
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg48Ser Uncertain significance Single submitter
-
CDT1 p.Arg514His
Conflicting
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg514Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg516Cys Conflicting Single submitter
- CDT1 p.Arg516His Uncertain significance Single submitter
-
CDT1 p.Arg535Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Arg541Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Arg541Leu Likely benign Single submitter
-
CDT1 p.Arg541Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Asn235Ile Uncertain significance Single submitter
- CDT1 p.Asp326Tyr Uncertain significance Single submitter
- CDT1 p.Cys479Phe Uncertain significance Single submitter
- CDT1 p.Gln115His Uncertain significance Single submitter
-
CDT1 p.Gln251Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gln251Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gln293His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gln293Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Gln300His
Conflicting
Single submitter
Inborn genetic diseases
- CDT1 p.Gln3Leu Uncertain significance Single submitter
-
CDT1 p.Gln437His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Glu195Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Glu232Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Glu252Asp Uncertain significance Single submitter
- CDT1 p.Glu456Gln Uncertain significance Single submitter
-
CDT1 p.Glu468Lys
Conflicting
Single submitter
Meier-Gorlin syndrome 4
-
CDT1 p.Glu504Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Glu544Asp Conflicting Single submitter
- CDT1 p.Glu544Val Conflicting Single submitter
- CDT1 p.Glu76Lys Uncertain significance Single submitter
- CDT1 p.Gly180Ser Uncertain significance Single submitter
-
CDT1 p.Gly205Ser
Conflicting
Single submitter
Meier-Gorlin syndrome 4
- CDT1 p.Gly237Ser Uncertain significance Single submitter
- CDT1 p.Gly393Glu Uncertain significance Single submitter
- CDT1 p.Gly393Trp Uncertain significance Single submitter
-
CDT1 p.His110Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Leu291Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Leu292Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Leu302Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Leu37Phe Uncertain significance Single submitter
-
CDT1 p.Leu461Met
Uncertain significance
Single submitter
Meier-Gorlin syndrome 4
- CDT1 p.Lys189Glu Uncertain significance Single submitter
-
CDT1 p.Lys240Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Met206Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Met375Ile
Uncertain significance
Single submitter
Meier-Gorlin syndrome 4
- CDT1 p.Pro168Leu Uncertain significance Single submitter
-
CDT1 p.Pro182Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Pro256Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Pro284Ala Uncertain significance Single submitter
-
CDT1 p.Pro30Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Pro324Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Pro400Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Pro403Ser Uncertain significance Single submitter
-
CDT1 p.Pro412Thr
Conflicting
Single submitter
Meier-Gorlin syndrome 4
-
CDT1 p.Pro507Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ser143Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Ser289Leu Likely benign Single submitter
-
CDT1 p.Ser419Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Ser463Gly
Conflicting
Single submitter
Inborn genetic diseases
- CDT1 p.Ser73Trp Uncertain significance Single submitter
- CDT1 p.Ser81Asn Uncertain significance Single submitter
- CDT1 p.Ser93Phe Uncertain significance Single submitter
-
CDT1 p.Thr354Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Thr82Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Val185Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CDT1 p.Val223Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Val242Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDT1 p.Val242Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CDT1 p.Val337Ala Uncertain significance Single submitter
All CDT1 variants
Pathogenic 18
- c.1276-24A>G Single submitter Meier-Gorlin syndrome 4
- p.Ala360del Single submitter Meier-Gorlin syndrome 4
- p.Ala56fs Single submitter Meier-Gorlin syndrome 4
- p.Arg19fs Single submitter
- p.Arg294Ter Single submitter
- p.Arg427Ter Single submitter
- p.Arg469fs Single submitter
- p.Gln285Ter Single submitter
- p.Gln300Ter Single submitter
- p.Gln446fs Single submitter
- p.Glu504fs Single submitter
- p.Leu25fs Single submitter
- p.Phe465fs Single submitter
- p.Ser391fs Single submitter
- p.Tyr520Ter Single submitter
- p.Val6fs Single submitter
- p.Ala66Thr No assertion criteria Meier-Gorlin syndrome 4 ⚠
- p.Gln117His No assertion criteria Meier-Gorlin syndrome 4 ⚠
Pathogenic/Likely pathogenic 2
- c.832+1G>A Multiple submitters Meier-Gorlin syndrome 4
- p.Arg462Gln Multiple submitters Meier-Gorlin syndrome ⚠
Likely pathogenic 6
- c.832+2T>G Single submitter
- p.Ala55fs Single submitter Meier-Gorlin syndrome 4
- p.Gln268Ter Single submitter Meier-Gorlin syndrome 4
- p.Gln446delinsArgLeuGlu Single submitter
- p.Lys218Ter Single submitter Meier-Gorlin syndrome 4
- p.Pro412fs Single submitter
Conflicting classifications of pathogenicity 16
- c.686+9C>T Single submitter
- p.Arg172Cys Single submitter Inborn genetic diseases ⚠
- p.Arg253His Single submitter ⚠
- p.Arg453Trp Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Arg514His Single submitter Inborn genetic diseases ⚠
- p.Arg516Cys Single submitter ⚠
- p.Gln300His Single submitter Inborn genetic diseases ⚠
- p.Glu468Lys Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Glu544Asp Single submitter ⚠
- p.Glu544Val Single submitter ⚠
- p.Gly205Ser Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Lys141Arg Single submitter Inborn genetic diseases ⚠
- p.Pro412Thr Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Pro471Ala Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Ser463Gly Single submitter Inborn genetic diseases ⚠
- p.Val185Leu Single submitter Inborn genetic diseases ⚠
Benign 43
- c.1123-45C>A Multiple submitters
- c.1276-22C>T Multiple submitters
- c.488+65G>A Multiple submitters
- c.933+102G>A Multiple submitters
- c.933+13C>T Multiple submitters
- c.934-58T>C Multiple submitters
- c.*201G>A Multiple submitters
- c.*302G>A Multiple submitters
- c.*43C>G Multiple submitters
- c.*6G>C Multiple submitters
- c.*92C>T Multiple submitters
- p.Ala135Val Multiple submitters ⚠
- p.Ala527= Multiple submitters
- p.Ala537Val Multiple submitters ⚠
- p.Ala62Val Multiple submitters
- p.Arg198Cys Multiple submitters ⚠
- p.Arg459= Multiple submitters
- p.Cys234Arg Multiple submitters Meier-Gorlin syndrome 4
- p.Gln145= Multiple submitters
- p.Gly183= Multiple submitters
- p.Gly393= Multiple submitters
- p.His305= Multiple submitters Meier-Gorlin syndrome 4
- p.Ile98Val Multiple submitters
- p.Leu500= Multiple submitters
- p.Leu529= Multiple submitters Meier-Gorlin syndrome 4
- p.Ser491Asn Multiple submitters ⚠
- p.Ser503Ala Multiple submitters
- p.Ser81= Multiple submitters
- p.Thr262Ala Multiple submitters Meier-Gorlin syndrome 4
- p.Thr44Pro Multiple submitters
- c.1122+11G>A Single submitter
- c.1477+52G>A Single submitter
- c.1478-136T>A Single submitter
- c.351+8del Single submitter
- c.352-6del Single submitter
- c.488+16del Single submitter
- c.686+15del Single submitter
- c.833-19G>C Single submitter
- c.833-3C>T Single submitter
- c.*245C>T Single submitter
- p.Arg5= Single submitter
- p.Glu84= Single submitter
- p.Pro407= Single submitter
Benign/Likely benign 11
- c.1123-4G>A Multiple submitters
- c.229-13T>A Multiple submitters
- p.Ala155= Multiple submitters
- p.Gln285= Multiple submitters
- p.Glu456Ala Multiple submitters ⚠
- p.Leu25= Multiple submitters
- p.Leu37= Multiple submitters
- p.Pro256= Multiple submitters
- p.Pro507= Multiple submitters adenine phosphoribosyltransferase deficiency
- p.Pro83Leu Multiple submitters Meier-Gorlin syndrome 4 ⚠
- p.Ser246= Multiple submitters
Likely benign 181
- c.1122+159C>T Multiple submitters
- c.229-7C>G Multiple submitters
- p.Glu543= Multiple submitters
- p.Pro333= Multiple submitters Meier-Gorlin syndrome 4
- p.Ser463= Multiple submitters
- p.Ser467= Multiple submitters
- p.Thr213= Multiple submitters
- p.Tyr520= Multiple submitters
- c.1122+10C>T Single submitter
- c.1123-10C>T Single submitter
- c.1123-11C>T Single submitter
- c.1123-13G>A Single submitter
- c.1123-16C>T Single submitter
- c.1123-5C>T Single submitter
- c.1123-7C>T Single submitter
- c.1275+11C>T Single submitter
- c.1275+19T>C Single submitter
- c.1275+7C>G Single submitter
- c.1275+7C>T Single submitter
- c.1275+8G>A Single submitter
- c.1276-13G>C Single submitter
- c.1276-15C>T Single submitter
- c.1276-20G>C Single submitter
- c.1477+12G>A Single submitter
- c.1477+13_1477+34dup Single submitter
- c.1477+13C>T Single submitter
- c.1477+18T>C Single submitter
- c.1477+191G>A Single submitter
- c.1477+242G>A Single submitter
- c.1478-14_1478-12del Single submitter
- c.1478-14C>T Single submitter
- c.1478-5C>T Single submitter
- c.1478-9C>T Single submitter
- c.228+10G>A Single submitter
- c.228+17G>T Single submitter
- c.228+20T>A Single submitter
- c.228+27_228+55del Single submitter
- c.229-15G>C Single submitter
- c.229-17G>C Single submitter
- c.229-18T>C Single submitter
- c.229-18T>G Single submitter
- c.229-20C>A Single submitter
- c.229-20C>T Single submitter
- c.229-4C>T Single submitter
- c.351+8G>T Single submitter
- c.352-12A>T Single submitter
- c.352-13G>T Single submitter
- c.352-14del Single submitter
- c.488+17C>T Single submitter
- c.489-15C>T Single submitter
- c.686+10C>T Single submitter
- c.686+11G>A Single submitter
- c.686+13G>A Single submitter
- c.686+15G>A Single submitter
- c.687-10C>G Single submitter
- c.687-10C>T Single submitter
- c.687-16C>T Single submitter
- c.687-18G>A Single submitter
- c.687-19C>T Single submitter
- c.687-20C>T Single submitter
- c.687-6C>G Single submitter
- c.832+12G>T Single submitter
- c.832+14G>T Single submitter
- c.832+15C>T Single submitter
- c.832+7G>C Single submitter
- c.833-12C>T Single submitter
- c.833-17C>T Single submitter
- c.833-19G>A Single submitter
- c.833-20G>A Single submitter
- c.833-20G>C Single submitter
- c.833-9G>A Single submitter
- c.933+11C>T Single submitter
- c.933+12C>G Single submitter
- c.933+14G>A Single submitter
- c.933+20G>A Single submitter
- c.934-11C>T Single submitter
- c.934-15A>C Single submitter
- c.934-6C>T Single submitter
- p.Ala124= Single submitter
- p.Ala144= Single submitter
- p.Ala147= Single submitter
- p.Ala167= Single submitter
- p.Ala177= Single submitter
- p.Ala194= Single submitter
- p.Ala194Val Single submitter ⚠
- p.Ala21= Single submitter
- p.Ala217= Single submitter
- p.Ala26= Single submitter
- p.Ala346= Single submitter
- p.Ala347Val Single submitter Inborn genetic diseases
- p.Ala36= Single submitter
- p.Ala41= Single submitter
- p.Ala526= Single submitter
- p.Ala542= Single submitter
- p.Arg138Gln Single submitter Inborn genetic diseases
- p.Arg158His Single submitter ⚠
- p.Arg19= Single submitter
- p.Arg253= Single submitter
- p.Arg334= Single submitter
- p.Arg34= Single submitter
- p.Arg366= Single submitter
- p.Arg52= Single submitter
- p.Arg541Leu Single submitter ⚠
- p.Arg71= Single submitter
- p.Asn336= Single submitter
- p.Asn369= Single submitter
- p.Asp280= Single submitter
- p.Asp342= Single submitter
- p.Cys479= Single submitter
- p.Gln296= Single submitter
- p.Gln381= Single submitter
- p.Gln432= Single submitter
- p.Gln96= Single submitter
- p.Glu156= Single submitter
- p.Glu156Lys Single submitter Inborn genetic diseases
- p.Glu276= Single submitter
- p.Glu325= Single submitter
- p.Glu344= Single submitter
- p.Glu424= Single submitter
- p.Gly157= Single submitter
- p.Gly164= Single submitter
- p.Gly237= Single submitter
- p.Gly545= Single submitter
- p.Ile203= Single submitter
- p.Ile239= Single submitter
- p.Ile271= Single submitter
- p.Ile489Val Single submitter Inborn genetic diseases
- p.Leu184= Single submitter
- p.Leu207= Single submitter
- p.Leu292= Single submitter
- p.Leu302= Single submitter
- p.Leu382= Single submitter
- p.Leu384= Single submitter
- p.Leu415= Single submitter
- p.Leu423= Single submitter
- p.Leu473= Single submitter
- p.Leu501= Single submitter
- p.Leu505= Single submitter
- p.Lys259= Single submitter
- p.Lys522= Single submitter
- p.Lys97= Single submitter
- p.Lys99= Single submitter
- p.Pro15= Single submitter
- p.Pro179= Single submitter
- p.Pro182= Single submitter
- p.Pro244= Single submitter
- p.Pro284= Single submitter
- p.Pro30= Single submitter
- p.Pro319= Single submitter
- p.Pro324= Single submitter
- p.Pro341= Single submitter
- p.Pro345= Single submitter
- p.Pro35= Single submitter
- p.Pro392= Single submitter
- p.Pro397= Single submitter
- p.Pro40= Single submitter
- p.Pro400= Single submitter
- p.Pro54= Single submitter
- p.Pro83= Single submitter
- p.Ser211= Single submitter
- p.Ser265= Single submitter
- p.Ser289= Single submitter
- p.Ser289Leu Single submitter ⚠
- p.Ser316= Single submitter
- p.Ser419= Single submitter
- p.Ser42= Single submitter
- p.Ser503= Single submitter
- p.Thr119= Single submitter
- p.Thr215= Single submitter
- p.Thr241= Single submitter
- p.Thr287= Single submitter
- p.Thr354= Single submitter
- p.Thr402= Single submitter
- p.Thr439= Single submitter
- p.Thr517= Single submitter
- p.Thr533= Single submitter
- p.Thr82= Single submitter
- p.Tyr243= Single submitter
- p.Val303= Single submitter
- p.Val74Ala Single submitter Inborn genetic diseases
- c.1276-7G>T No assertion criteria CDT1-related disorder
Uncertain significance 244
- c.*9G>A Multiple submitters
- p.Ala11Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala144Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala167Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala217Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala414Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala431Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala534Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala90Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg131Gln Multiple submitters ⚠
- p.Arg131Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg138Trp Multiple submitters ⚠
- p.Arg158Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg198His Multiple submitters Inborn genetic diseases ⚠
- p.Arg228His Multiple submitters Inborn genetic diseases ⚠
- p.Arg250Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg250His Multiple submitters Inborn genetic diseases ⚠
- p.Arg253Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg290Cys Multiple submitters ⚠
- p.Arg295Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg366Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg366Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg425Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg425Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg440Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg440Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg450Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg450His Multiple submitters Inborn genetic diseases ⚠
- p.Arg4Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg4Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg514Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg535His Multiple submitters ⚠
- p.Asn235Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp342Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp518Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys441Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln293Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu272Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu308Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu344Lys Multiple submitters ⚠
- p.Glu445Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu504Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly106Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly157Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly16Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly261Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly281Arg Multiple submitters Meier-Gorlin syndrome 4 ⚠
- p.Gly393Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly58Arg Multiple submitters Inborn genetic diseases ⚠
- p.His309Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile515Val Multiple submitters ⚠
- p.Leu269Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu370Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys497Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro179Thr Multiple submitters ⚠
- p.Pro244Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro333Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro345Leu Multiple submitters ⚠
- p.Pro400Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro407Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro408Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro442Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro53Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser211Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser93Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr287Met Multiple submitters Inborn genetic diseases ⚠
- p.Val137Leu Multiple submitters ⚠
- p.Val204Met Multiple submitters Inborn genetic diseases ⚠
- p.Val460Met Multiple submitters Inborn genetic diseases ⚠
- p.Val521Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val74Leu Multiple submitters Inborn genetic diseases ⚠
- c.1123-21_1123-20delinsGT Single submitter
- c.1477+5G>A Single submitter
- c.1478-1G>A Single submitter
- c.228+4_228+5dup Single submitter
- c.229-3C>T Single submitter
- c.352-7C>G Single submitter Meier-Gorlin syndrome 4
- c.686+5G>A Single submitter
- c.686+5G>C Single submitter
- c.832+3G>A Single submitter
- c.933+3G>A Single submitter
- c.933+6C>T Single submitter
- p.Ala124Glu Single submitter Inborn genetic diseases ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala147Ser Single submitter Inborn genetic diseases ⚠
- p.Ala147Val Single submitter Inborn genetic diseases ⚠
- p.Ala155Thr Single submitter ⚠
- p.Ala169Thr Single submitter Inborn genetic diseases ⚠
- p.Ala217Pro Single submitter Inborn genetic diseases ⚠
- p.Ala282Thr Single submitter Inborn genetic diseases ⚠
- p.Ala283Thr Single submitter ⚠
- p.Ala315Thr Single submitter Inborn genetic diseases ⚠
- p.Ala320Ser Single submitter Inborn genetic diseases ⚠
- p.Ala33Thr Single submitter Inborn genetic diseases ⚠
- p.Ala367Gly Single submitter Inborn genetic diseases ⚠
- p.Ala378Gly Single submitter Inborn genetic diseases ⚠
- p.Ala388Glu Single submitter ⚠
- p.Ala39Val Single submitter Inborn genetic diseases ⚠
- p.Ala401Thr Single submitter ⚠
- p.Ala401Val Single submitter Inborn genetic diseases ⚠
- p.Ala410Val Single submitter ⚠
- p.Ala428Val Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Ala51Val Single submitter Inborn genetic diseases ⚠
- p.Ala530Thr Single submitter ⚠
- p.Ala537Thr Single submitter ⚠
- p.Ala56Val Single submitter Inborn genetic diseases ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala85Val Single submitter Inborn genetic diseases ⚠
- p.Arg13Cys Single submitter Inborn genetic diseases ⚠
- p.Arg172His Single submitter ⚠
- p.Arg19His Single submitter ⚠
- p.Arg228Cys Single submitter Inborn genetic diseases ⚠
- p.Arg228Leu Single submitter ⚠
- p.Arg230His Single submitter ⚠
- p.Arg248Cys Single submitter ⚠
- p.Arg295Leu Single submitter
- p.Arg295Pro Single submitter ⚠
- p.Arg334Cys Single submitter Inborn genetic diseases ⚠
- p.Arg34Gly Single submitter Inborn genetic diseases ⚠
- p.Arg385Cys Single submitter Inborn genetic diseases ⚠
- p.Arg427Gln Single submitter Inborn genetic diseases ⚠
- p.Arg447Gln Single submitter Inborn genetic diseases ⚠
- p.Arg447Trp Single submitter ⚠
- p.Arg453Leu Single submitter Inborn genetic diseases ⚠
- p.Arg459Cys Single submitter Inborn genetic diseases ⚠
- p.Arg459Pro Single submitter Inborn genetic diseases ⚠
- p.Arg462Trp Single submitter ⚠
- p.Arg469Cys Single submitter Inborn genetic diseases ⚠
- p.Arg469His Single submitter Inborn genetic diseases ⚠
- p.Arg48Ser Single submitter ⚠
- p.Arg514Leu Single submitter Inborn genetic diseases ⚠
- p.Arg516His Single submitter ⚠
- p.Arg535Cys Single submitter Inborn genetic diseases ⚠
- p.Arg541Cys Single submitter Inborn genetic diseases ⚠
- p.Arg541Ser Single submitter Inborn genetic diseases ⚠
- p.Arg71Leu Single submitter ⚠
- p.Asn235Ile Single submitter ⚠
- p.Asn369Asp Single submitter ⚠
- p.Asp326Tyr Single submitter ⚠
- p.Asp508Glu Single submitter ⚠
- p.Asp87Gly Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Cys234Pro Single submitter
- p.Cys234Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys27Phe Single submitter Inborn genetic diseases ⚠
- p.Cys479Phe Single submitter ⚠
- p.Cys487Phe Single submitter Inborn genetic diseases ⚠
- p.Gln115His Single submitter ⚠
- p.Gln115Leu Single submitter Inborn genetic diseases ⚠
- p.Gln251Arg Single submitter Inborn genetic diseases ⚠
- p.Gln251Lys Single submitter Inborn genetic diseases ⚠
- p.Gln277Lys Single submitter Inborn genetic diseases ⚠
- p.Gln293His Single submitter Inborn genetic diseases ⚠
- p.Gln293Lys Single submitter Inborn genetic diseases ⚠
- p.Gln361= Single submitter
- p.Gln3Leu Single submitter ⚠
- p.Gln437His Single submitter Inborn genetic diseases ⚠
- p.Gln96Arg Single submitter Inborn genetic diseases ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu165Lys Single submitter Inborn genetic diseases ⚠
- p.Glu195Lys Single submitter Inborn genetic diseases ⚠
- p.Glu212Lys Single submitter ⚠
- p.Glu232Asp Single submitter Inborn genetic diseases ⚠
- p.Glu252Asp Single submitter ⚠
- p.Glu278Ala Single submitter Inborn genetic diseases ⚠
- p.Glu2Lys Single submitter ⚠
- p.Glu452Gln Single submitter Inborn genetic diseases ⚠
- p.Glu456Gln Single submitter ⚠
- p.Glu504Lys Single submitter Inborn genetic diseases ⚠
- p.Glu76Lys Single submitter ⚠
- p.Gly148Glu Single submitter Inborn genetic diseases ⚠
- p.Gly180Ser Single submitter ⚠
- p.Gly237Ser Single submitter ⚠
- p.Gly393Glu Single submitter ⚠
- p.Gly393Trp Single submitter ⚠
- p.Gly95Asp Single submitter Inborn genetic diseases ⚠
- p.His110Tyr Single submitter Inborn genetic diseases ⚠
- p.His538Gln Single submitter Inborn genetic diseases ⚠
- p.Ile20Leu Single submitter Inborn genetic diseases ⚠
- p.Ile20Val Single submitter ⚠
- p.Ile271Val Single submitter ⚠
- p.Ile489Met Single submitter Inborn genetic diseases ⚠
- p.Ile98Thr Single submitter ⚠
- p.Leu181Pro Single submitter ⚠
- p.Leu291Phe Single submitter Inborn genetic diseases ⚠
- p.Leu292Arg Single submitter Inborn genetic diseases ⚠
- p.Leu302Val Single submitter Inborn genetic diseases ⚠
- p.Leu37Phe Single submitter ⚠
- p.Leu399Pro Single submitter ⚠
- p.Leu461Met Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Lys189Glu Single submitter ⚠
- p.Lys189Met Single submitter Inborn genetic diseases ⚠
- p.Lys240Arg Single submitter Inborn genetic diseases ⚠
- p.Lys470Asn Single submitter Inborn genetic diseases ⚠
- p.Lys97Asn Single submitter ⚠
- p.Lys99Glu Single submitter Inborn genetic diseases ⚠
- p.Met206Val Single submitter Inborn genetic diseases ⚠
- p.Met321Ile Single submitter Inborn genetic diseases ⚠
- p.Met321Val Single submitter Inborn genetic diseases ⚠
- p.Met375Ile Single submitter Meier-Gorlin syndrome 4 ⚠
- p.Met438Ile Single submitter Inborn genetic diseases ⚠
- p.Met475Thr Single submitter Inborn genetic diseases ⚠
- p.Met495Val Single submitter Inborn genetic diseases ⚠
- p.Phe231Val Single submitter Inborn genetic diseases ⚠
- p.Pro162Ala Single submitter Inborn genetic diseases ⚠
- p.Pro168Leu Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro182Leu Single submitter Inborn genetic diseases ⚠
- p.Pro214Ser Single submitter ⚠
- p.Pro256Ser Single submitter Inborn genetic diseases ⚠
- p.Pro284Ala Single submitter ⚠
- p.Pro30Arg Single submitter Inborn genetic diseases ⚠
- p.Pro324Leu Single submitter Inborn genetic diseases ⚠
- p.Pro400Ala Single submitter Inborn genetic diseases ⚠
- p.Pro403Ser Single submitter ⚠
- p.Pro404del Single submitter
- p.Pro408Ala Single submitter Inborn genetic diseases ⚠
- p.Pro507Leu Single submitter Inborn genetic diseases ⚠
- p.Pro54Ser Single submitter ⚠
- p.Ser143Asn Single submitter Inborn genetic diseases ⚠
- p.Ser246Phe Single submitter Inborn genetic diseases ⚠
- p.Ser390Gly Single submitter Inborn genetic diseases ⚠
- p.Ser419Thr Single submitter Inborn genetic diseases ⚠
- p.Ser73Trp Single submitter ⚠
- p.Ser81Asn Single submitter ⚠
- p.Ser93Phe Single submitter ⚠
- p.Thr102Pro Single submitter ⚠
- p.Thr213Met Single submitter ⚠
- p.Thr354Met Single submitter Inborn genetic diseases ⚠
- p.Thr517Ala Single submitter ⚠
- p.Thr82Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr520Cys Single submitter ⚠
- p.Val223Ile Single submitter Inborn genetic diseases ⚠
- p.Val236Ile Single submitter Inborn genetic diseases ⚠
- p.Val242Leu Single submitter Inborn genetic diseases ⚠
- p.Val242Met Single submitter Inborn genetic diseases ⚠
- p.Val306Ile Single submitter
- p.Val322Ala Single submitter ⚠
- p.Val337Ala Single submitter ⚠
- p.Val464Ile Single submitter Inborn genetic diseases ⚠
- p.Val466Ala Single submitter Inborn genetic diseases ⚠
- p.Val483Ala Single submitter ⚠
- p.Val521Ile Single submitter ⚠
- p.Gln434Pro No assertion criteria ⚠