ABCC6 — 1738 ClinVar variants
All ClinVar germline ABCC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 773 flagged for review →
115 Pathogenic · 47 Pathogenic/Likely pathogenic · 120 Likely pathogenic · 82 Conflicting · 62 Benign · 30 Benign/Likely benign · 543 Likely benign · 739 Uncertain significance
Full ABCC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 773
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 34
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ABCC6 p.Arg1114Cys
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1114His
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1138Gln
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1138Trp
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1164Gln
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1221Cys
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1221His
Pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1235Trp
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1314Trp
Pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1339Cys
Pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg419Gln
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg419Trp
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg765Gln
Pathogenic
Multiple submitters
Autosomal recessive ABCC6-related disorders
-
ABCC6 p.Arg807Gln
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Glu1400Lys
Pathogenic/Likely pathogenic
Multiple submitters
Autosomal recessive ABCC6-related disorders
-
ABCC6 p.Gly755Arg
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
ABCC6 p.Met751Lys
Pathogenic/Likely pathogenic
Multiple submitters
optic atrophy
-
ABCC6 p.Thr1130Met
Pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Thr811Met
Pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Arg1414Cys Likely pathogenic Single submitter
-
ABCC6 p.Gly1200Ser
Likely pathogenic
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly1321Ser
Likely pathogenic
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Gly1354Ser Likely pathogenic Single submitter
-
ABCC6 p.Gly1501Ser
Likely pathogenic
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Ile1345Phe Likely pathogenic Single submitter
- ABCC6 p.Lys502Arg Pathogenic Single submitter
-
ABCC6 p.Ser1121Leu
Pathogenic
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val787Phe
Pathogenic
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ala1318Gly
Likely pathogenic
No assertion criteria
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Asp1238His
Pathogenic/Likely pathogenic
No assertion criteria
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Asp718Gly
Pathogenic
No assertion criteria
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly1405Ser
Pathogenic
No assertion criteria
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ser398Arg
Likely pathogenic
No assertion criteria
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ser398Gly
Pathogenic
No assertion criteria
autosomal recessive inherited pseudoxanthoma elasticum
Predictors agree, ClinVar conflicts 31
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ABCC6 p.Ala101Ser
Conflicting
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Ala452Asp Conflicting Single submitter
- ABCC6 p.Ala547Thr Conflicting Single submitter
-
ABCC6 p.Ala950Thr
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg290Gln
Conflicting
Single submitter
Inborn genetic diseases
- ABCC6 p.Arg60Gln Conflicting Single submitter
- ABCC6 p.Arg765Gly Conflicting Single submitter
-
ABCC6 p.Asp777Asn
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Gln1022Glu Conflicting Single submitter
-
ABCC6 p.Gln1406His
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Glu1427Lys
Conflicting
Single submitter
ABCC6-related disorder
-
ABCC6 p.Gly1181Asp
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.His475Leu
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.His57Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC6 p.Ile1342Thr
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Ile456Met Conflicting Single submitter
-
ABCC6 p.Leu1025Pro
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Leu826Pro
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Lys281Glu
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Met1127Ile
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Phe551Ser
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Phe568Ser
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Pro1251Ser Conflicting Single submitter
- ABCC6 p.Ser590Phe Conflicting Single submitter
-
ABCC6 p.Thr1242Met
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Thr364Arg
Conflicting
Single submitter
retinal disorder
-
ABCC6 p.Trp967Cys
Conflicting
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val1107Ala
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC6 p.Val514Ile
Conflicting
Single submitter
ABCC6-related disorder
-
ABCC6 p.Val592Ile
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val810Met
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
Predictors lean, ClinVar uncertain 286
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 286
-
ABCC6 p.Ala1008Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala1070Thr
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Ala1144Val
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Ala1186Asp Uncertain significance Multiple submitters
-
ABCC6 p.Ala488Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala547Ser
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Ala637Thr Uncertain significance Multiple submitters
-
ABCC6 p.Ala692Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala78Thr
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ala832Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala879Thr
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ala920Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC6 p.Ala976Thr Uncertain significance Multiple submitters
-
ABCC6 p.Arg1015Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC6 p.Arg1038Gln Uncertain significance Multiple submitters
-
ABCC6 p.Arg1064Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Arg1461His
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg64Gln
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Asn428Lys Uncertain significance Multiple submitters
-
ABCC6 p.Asp416Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Asp736Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Asp914His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Asp923Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Asp973Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Gln363Pro
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Gln655Lys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Gln803Arg
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gln803His
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Glu690Lys Uncertain significance Multiple submitters
-
ABCC6 p.Glu884Lys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Glu896Lys
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Gly1012Asp Uncertain significance Multiple submitters
-
ABCC6 p.Gly157Arg
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Gly399Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Gly519Ser
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly613Ser
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly61Ser
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly625Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Gly663Ser
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Gly965Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.His56Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ile494Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ile629Val
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ile631Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ile746Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Leu374Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Leu420Val
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Leu434Val Uncertain significance Multiple submitters
-
ABCC6 p.Leu676Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Lys273Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Lys844Gln
Uncertain significance
Multiple submitters
ABCC6-related disorder
-
ABCC6 p.Lys892Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Met280Ile
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Met834Thr
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Phe1493Leu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Phe604Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Pro1257His
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Pro1258Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Pro233Leu
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Pro867Ser
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Pro913Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ser1031Cys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ser1229Asn
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ser317Arg
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ser498Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ser893Leu
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Thr1252Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Thr1252Ile
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Thr1252Pro
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Thr421Ala
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Thr906Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Trp1241Cys
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Trp431Arg
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val1154Ile
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val1206Ile
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val435Ile
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Val439Ile
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Val442Ile
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val534Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Val592Leu
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val702Leu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ala101Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Ala1090Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC6 p.Ala1172Glu Uncertain significance Single submitter
- ABCC6 p.Ala1254Thr Uncertain significance Single submitter
-
ABCC6 p.Ala23Thr
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Ala282Pro
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Ala395Thr Uncertain significance Single submitter
- ABCC6 p.Ala403Asp Uncertain significance Single submitter
- ABCC6 p.Ala457Gly Uncertain significance Single submitter
- ABCC6 p.Ala623Thr Uncertain significance Single submitter
- ABCC6 p.Ala667Ser Uncertain significance Single submitter
- ABCC6 p.Ala830Thr Uncertain significance Single submitter
-
ABCC6 p.Ala879Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Ala88Val
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Ala916Val Uncertain significance Single submitter
- ABCC6 p.Ala972Val Uncertain significance Single submitter
-
ABCC6 p.Ala9Val
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Arg1018Lys Uncertain significance Single submitter
- ABCC6 p.Arg1023Gly Uncertain significance Single submitter
-
ABCC6 p.Arg1249Lys
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Arg1495Thr Uncertain significance Single submitter
-
ABCC6 p.Arg225Ser
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg264Gln
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg33Ser
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg373Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Arg489Gln
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Arg496Lys Uncertain significance Single submitter
- ABCC6 p.Arg860Lys Uncertain significance Single submitter
- ABCC6 p.Arg889Lys Uncertain significance Single submitter
- ABCC6 p.Arg899Ser Uncertain significance Single submitter
- ABCC6 p.Arg964Gln Uncertain significance Single submitter
- ABCC6 p.Arg987Ser Uncertain significance Single submitter
-
ABCC6 p.Asn150Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Asn793Lys
Uncertain significance
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Asn793Ser Uncertain significance Single submitter
-
ABCC6 p.Asp1361Tyr
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Asp1397Glu
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Asp416Gly Uncertain significance Single submitter
- ABCC6 p.Asp616Tyr Uncertain significance Single submitter
- ABCC6 p.Asp627Asn Uncertain significance Single submitter
-
ABCC6 p.Asp777His
Uncertain significance
Single submitter
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Asp784Val Uncertain significance Single submitter
- ABCC6 p.Asp898Asn Uncertain significance Single submitter
-
ABCC6 p.Cys1189Arg
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Cys203Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Gln11Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Gln1261His
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Gln1476Arg
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Gln199Lys Uncertain significance Single submitter
- ABCC6 p.Gln926Arg Uncertain significance Single submitter
-
ABCC6 p.Gln95Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Glu247Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC6 p.Glu286Gln
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Glu422Asp Uncertain significance Single submitter
-
ABCC6 p.Glu521Asp
Uncertain significance
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Glu559Lys Uncertain significance Single submitter
- ABCC6 p.Glu699Gln Uncertain significance Single submitter
-
ABCC6 p.Glu6Val
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Glu888Lys Uncertain significance Single submitter
-
ABCC6 p.Gly1203Asp
Uncertain significance
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Gly1299Arg Uncertain significance Single submitter
-
ABCC6 p.Gly129Glu
Uncertain significance
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly12Arg
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Gly12Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC6 p.Gly1304Glu Uncertain significance Single submitter
-
ABCC6 p.Gly1435Asp
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Gly1475Glu
Uncertain significance
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly207Arg
Uncertain significance
Single submitter
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly240Glu
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
Predictors split 422
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 422
- ABCC6 p.Ala1172Val Uncertain significance Multiple submitters
-
ABCC6 p.Ala1291Thr
Benign
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Ala1331Val
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ala1370Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala1385Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala187Val
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ala263Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala353Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala405Val
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ala452Thr
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ala524Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala524Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ala567Thr
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ala764Val
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ala781Val
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ala846Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Arg1015Trp
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1038Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Arg1064Trp
Benign/Likely benign
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg1153Cys
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1268Gln
Benign
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1268Trp
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1275Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Arg1339His
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1398Gln
Likely benign
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Arg1414His
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1418Gln
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg1459Cys
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg1461Cys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg1468Trp
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg251Trp
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Arg264Trp Uncertain significance Multiple submitters
-
ABCC6 p.Arg265Gly
Benign/Likely benign
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg382Gln
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg382Trp
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg487Gln
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg489Trp
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg518Gln
Pathogenic/Likely pathogenic
Multiple submitters
ABCC6-related disorder
-
ABCC6 p.Arg526Gln
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg526Trp
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg595Gln
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Arg595Trp Likely benign Multiple submitters
-
ABCC6 p.Arg600Cys
Pathogenic/Likely pathogenic
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg760Gln
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg887Cys
Benign/Likely benign
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg887His
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg899Cys
Likely benign
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Arg940Cys
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Arg964Pro
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Arg987Cys
Uncertain significance
Multiple submitters
ABCC6-related disorder
-
ABCC6 p.Arg987His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Asn497Lys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Asp1326Gly
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Asp1397Asn
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Asp163Asn
Benign
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Asp974Glu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Asp974Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Cys440Gly
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Cys712Arg
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gln981His
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Glu1266Lys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Glu1293Gln Uncertain significance Multiple submitters
-
ABCC6 p.Glu1369Lys
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Glu422Lys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Glu699Lys
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Glu709Lys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Gly1133Ala
Likely pathogenic
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly1302Arg
Pathogenic/Likely pathogenic
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Gly1327Arg
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
- ABCC6 p.Gly1327Glu Benign Multiple submitters
-
ABCC6 p.Gly1389Ser
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly1481Ser
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Gly429Arg
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly656Ser
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Gly799Val
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Gly928Ser
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Gly979Arg Uncertain significance Multiple submitters
-
ABCC6 p.Gly989Arg
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.His1196Asp
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.His790Tyr
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ile501Phe
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Leu1097Ile
Benign/Likely benign
Multiple submitters
pseudoxanthoma elasticum, forme fruste
- ABCC6 p.Leu1409His Uncertain significance Multiple submitters
-
ABCC6 p.Leu1444Phe
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Leu525Phe
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Leu946Ile
Benign/Likely benign
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Leu970Gln
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Lys1062Glu
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Lys579Glu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Met1464Thr
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Met356Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Phe1101Leu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Phe1204Leu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Pro1163Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Pro1247Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC6 p.Pro1247Ser Uncertain significance Multiple submitters
-
ABCC6 p.Pro1260Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Pro1279Leu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Pro1483Gln
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Pro1483Leu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Pro191His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Pro49Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Pro664Ser
Likely benign
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Pro779Thr
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Pro913His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ser1049Ala
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ser1109Leu
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ser1198Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ser398Ile
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ser535Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ser587Cys
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Ser618Asn
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ser688Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Ser754Cys
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ser961Phe
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Thr1377Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC6 p.Thr652Met Uncertain significance Multiple submitters
-
ABCC6 p.Val1076Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Val1080Ala
Uncertain significance
Multiple submitters
pseudoxanthoma elasticum, forme fruste
-
ABCC6 p.Val1183Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Val1202Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC6 p.Val1231Met
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val1285Met
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val1333Met
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val1384Ala
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val1404Met
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val1432Met
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val415Met
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val417Met
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val438Met
Likely benign
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val550Ala
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Val553Ile Uncertain significance Multiple submitters
-
ABCC6 p.Val615Ile
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val687Met
Uncertain significance
Multiple submitters
autosomal recessive inherited pseudoxanthoma elasticum
-
ABCC6 p.Val696Met
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val707Met
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val711Leu
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val711Met
Uncertain significance
Multiple submitters
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Val87Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC6 p.Ala1016Ser Uncertain significance Single submitter
- ABCC6 p.Ala1099Thr Uncertain significance Single submitter
-
ABCC6 p.Ala1139Thr
Conflicting
Single submitter
arterial calcification, generalized, of infancy, 2
- ABCC6 p.Ala1139Val Uncertain significance Single submitter
- ABCC6 p.Ala1152Val Uncertain significance Single submitter
- ABCC6 p.Ala1187Val Uncertain significance Single submitter
- ABCC6 p.Ala1199Thr Uncertain significance Single submitter
- ABCC6 p.Ala1209Thr Uncertain significance Single submitter
- ABCC6 p.Ala1303Val Likely pathogenic Single submitter
-
ABCC6 p.Ala1318Thr
Uncertain significance
Single submitter
arterial calcification, generalized, of infancy, 2
-
ABCC6 p.Ala1319Ser
Uncertain significance
Single submitter
pseudoxanthoma elasticum, forme fruste
All ABCC6 variants
Pathogenic 115
- c.2248-2_2248-1del Multiple submitters arterial calcification, generalized, of infancy, 2
- c.2787+1G>T Multiple submitters pseudoxanthoma elasticum (inherited or acquired)
- c.3506+2_3506+5del Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3507-1G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.37-1G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3736-1G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ala846fs Multiple submitters Inborn genetic diseases
- p.Arg1114Pro Multiple submitters ABCC6-related disorder
- p.Arg1221His Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1275Ter Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Arg1314Trp Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1339Cys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1398Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg518Ter Multiple submitters ABCC6-related disorder
- p.Arg765Gln Multiple submitters Autosomal recessive ABCC6-related disorders ⚠
- p.Asp1368fs Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Gln1347= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln363Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln378Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu679Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Lys1394fs Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ser1205fs Multiple submitters
- p.Ser66fs Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Thr1130Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Thr811Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Trp1259fs Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp1324Ter Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Trp721Ter Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Tyr938Ter Multiple submitters
- p.Val37fs Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Val537fs Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1339-2A>G Single submitter
- c.1944_1965del22 Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.3306+1del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.341_345+8delinsG Single submitter pseudoxanthoma elasticum, forme fruste
- c.3507-2A>G Single submitter
- c.3634-1G>T Single submitter
- p.? Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala1087fs Single submitter
- p.Ala1303Pro Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala813fs Single submitter
- p.Arg1113fs Single submitter
- p.Arg1138Pro Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg473fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg600Pro Single submitter
- p.Arg760Pro Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg765Trp Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Asp408delinsGlyTer Single submitter
- p.Cys963Ter Single submitter
- p.Gln1102Ter Single submitter
- p.Gln1143fs Single submitter
- p.Gln1237Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln1347His Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln789Ter Single submitter
- p.Gln803fs Single submitter
- p.Gln998Ter Single submitter
- p.Glu1365fs Single submitter
- p.Glu559Ter Single submitter
- p.Glu690Ter Single submitter
- p.Glu709Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly1304Arg Single submitter
- p.Gly1311fs Single submitter
- p.Gly666Trp Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly928_Arg929insTer Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly992Arg Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu1025fs Single submitter
- p.Leu1063Arg Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Lys1305fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Lys502Arg Single submitter ⚠
- p.Lys682fs Single submitter
- p.Phe586fs Single submitter
- p.Phe598fs Single submitter
- p.Pro1279fs Single submitter
- p.Pro913fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser1121Leu Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ser1355_Leu1360del Single submitter
- p.Ser321fs Single submitter arterial calcification, generalized, of infancy, 2
- p.Ser893Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Thr1084fs Single submitter
- p.Thr744fs Single submitter
- p.Thr900fs Single submitter
- p.Trp1026Ter Single submitter
- p.Trp1223Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp436Ter Single submitter
- p.Trp445Ter Single submitter
- p.Trp822fs Single submitter
- p.Tyr1105Ter Single submitter
- p.Tyr1393Ter Single submitter
- p.Tyr426Ter Single submitter
- p.Tyr768Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Tyr927Ter Single submitter
- p.Val1055fs Single submitter
- p.Val1166fs Single submitter
- p.Val1285fs Single submitter
- p.Val1298Phe Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val328fs Single submitter ABCC6-related disorder
- p.Val596fs Single submitter
- p.Val683fs Single submitter
- p.Val787Phe Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala151fs No assertion criteria arterial calcification, generalized, of infancy, 2
- p.Ala766Asp No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala820Pro No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Asp718Gly No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gln1406Lys No assertion criteria arterial calcification, generalized, of infancy, 2 ⚠
- p.Gln698Pro No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1299Ser No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1354Arg No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1405Ser No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly663Cys No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu1335Gln No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Leu1335Pro No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser398Gly No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Thr811Arg No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp218Cys No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp967Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
Pathogenic/Likely pathogenic 47
- c.3506+1G>A Multiple submitters
- c.3883-6G>A Multiple submitters inherited retinal dystrophy
- c.4209-2A>C Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.4404-1G>A Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.998+2_998+3del Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ala667fs Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg1030Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg1114Cys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1114His Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1138Gln Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1138Trp Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1164Gln Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1164Ter Multiple submitters Autosomal recessive ABCC6-related disorders
- p.Arg1221Cys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1235Trp Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1339His Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg419Gln Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg419Trp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg487Gln Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg518Gln Multiple submitters ABCC6-related disorder ⚠
- p.Arg600Cys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg760Gln Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg760Trp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg807Gln Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gln581Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln593Ter Multiple submitters Autosomal recessive ABCC6-related disorders
- p.Glu1400Lys Multiple submitters Autosomal recessive ABCC6-related disorders ⚠
- p.Glu242Ter Multiple submitters congenital alveolar dysplasia due to TBX4
- p.Glu559fs Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Gly1296Asp Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Gly1302Arg Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Gly755Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Ile1330fs Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Leu430fs Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Leu495His Multiple submitters ABCC6-related disorder
- p.Leu673Pro Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu780fs Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Lys1419fs Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Met751Lys Multiple submitters optic atrophy ⚠
- p.Met848fs Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ser620fs Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Thr1301Ile Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp1170Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp1241Ter Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Tyr1098Ter Multiple submitters
- p.Asp1238His No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gln363_Arg373del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
Likely pathogenic 120
- c.1868-5T>G Multiple submitters arterial calcification, generalized, of infancy, 2
- c.2591-1G>T Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3634-3C>A Multiple submitters arterial calcification, generalized, of infancy, 2
- p.952FL[1] Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Arg807Trp Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Glu1245Asp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly1133Ala Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- c.1338+1G>T Single submitter
- c.1892_1943+26del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.1943+1G>A Single submitter
- c.2070+1G>C Single submitter
- c.2071-1G>A Single submitter
- c.2071-2A>T Single submitter
- c.219+2T>C Single submitter pseudoxanthoma elasticum, forme fruste
- c.220-1G>C Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.2666+1G>A Single submitter pseudoxanthoma elasticum, forme fruste
- c.3506+2T>C Single submitter
- c.3883-2_3883-1del Single submitter
- c.475-1G>A Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.794+1G>A Single submitter
- p.Ala1303Val Single submitter ⚠
- p.Ala941fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg1314Leu Single submitter ⚠
- p.Arg1339Ser Single submitter
- p.Arg1357Leu Single submitter ⚠
- p.Arg1357Pro Single submitter
- p.Arg1414Cys Single submitter ⚠
- p.Arg1414Ser Single submitter
- p.Arg290fs Single submitter pseudoxanthoma elasticum, forme fruste
- p.Arg297fs Single submitter
- p.Arg487Gly Single submitter
- p.Arg60_Tyr62del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg60fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg765Leu Single submitter
- p.Arg765Pro Single submitter
- p.Asp784fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Cys628Ter Single submitter pseudoxanthoma elasticum, forme fruste
- p.Gln1143Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu255Ter Single submitter
- p.Glu864Ter Single submitter pseudoxanthoma elasticum, forme fruste
- p.Gly1200Ser Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1321Ser Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1354Ser Single submitter ⚠
- p.Gly1501Ser Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly656fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly797Glu Single submitter
- p.Ile106fs Single submitter pseudoxanthoma elasticum, forme fruste
- p.Ile1345Phe Single submitter ⚠
- p.Ile746fs Single submitter
- p.Leu1425Pro Single submitter
- p.Leu726Pro Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu775fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Lys330Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser1117Pro Single submitter ⚠
- p.Ser1121Trp Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ser383Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser617Ter Single submitter
- p.Thr933fs Single submitter pseudoxanthoma elasticum, forme fruste
- p.Trp1447Ter Single submitter pseudoxanthoma elasticum, forme fruste
- p.Trp701Arg Single submitter
- p.Tyr1274Ter Single submitter pseudoxanthoma elasticum, forme fruste
- c.1092_1339-1949del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.1179_1338+2del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.1635+1G>T No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.1868-?_1943+?del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.1944-1G>C No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.2416-1_2416del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.36+1G>T No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.3633+1G>A No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.3876_3882+1del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.4403+1G>T No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.601-2A>G No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- c.998+2del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala1291fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala1318Gly No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala594Val No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala660fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg526fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg724fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Asn578fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Asp1056Glu No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln1264Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln1408fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln16Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln199Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln749Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln842Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu125Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu1266fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu1277delinsLysIleProThrTer No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu1479fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu507fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Glu507Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly1133Cys No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly226Arg No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ile94fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu1115del No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu112fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu1182fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu355Arg No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Leu571fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu677Pro No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu946fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Lys1474Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Met1440fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser1122fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser1232fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser1307Pro No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser1446fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser238Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser398Arg No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Thr1436fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Thr315fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp111Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp1259Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp237fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Tyr1069Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Tyr1239Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Tyr227Ter No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
- p.Val795fs No assertion criteria autosomal recessive inherited pseudoxanthoma elasticum
Conflicting classifications of pathogenicity 82
- c.1432-5C>T Single submitter arterial calcification, generalized, of infancy, 2
- c.1780-17G>A Single submitter pseudoxanthoma elasticum, forme fruste
- c.1944-8G>A Single submitter
- c.2416-10C>A Single submitter arterial calcification, generalized, of infancy, 2
- c.2995+6C>T Single submitter
- c.2996-11T>G Single submitter
- c.3306+8G>A Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala101Ser Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala1139Thr Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala1415fs Single submitter ABCC6-related disorder
- p.Ala353Val Single submitter Inborn genetic diseases ⚠
- p.Ala452Asp Single submitter ⚠
- p.Ala509Gly Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala547Thr Single submitter ⚠
- p.Ala781= Single submitter
- p.Ala950Thr Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala976= Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg1141Ter Single submitter ABCC6-related disorder
- p.Arg1153His Single submitter Inborn genetic diseases ⚠
- p.Arg1235Gln Single submitter ABCC6-related disorder ⚠
- p.Arg1314Gln Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1357Gln Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1357Trp Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg166Cys Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg290Gln Single submitter Inborn genetic diseases ⚠
- p.Arg297His Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg391Gly Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg600His Single submitter inherited retinal dystrophy ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg765Gly Single submitter ⚠
- p.Arg887= Single submitter arterial calcification, generalized, of infancy, 2
- p.Asn370Asp Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Asp1361Asn Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Asp777Asn Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Gln1022Glu Single submitter ⚠
- p.Gln131Arg Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gln1406His Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Glu1427Lys Single submitter ABCC6-related disorder ⚠
- p.Glu699Asp Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Glu699Gly Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Gly1181Asp Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1262= Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly1263Arg Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Gly714Arg Single submitter Inborn genetic diseases ⚠
- p.His475Leu Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.His57Arg Single submitter Inborn genetic diseases ⚠
- p.Ile1342Thr Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ile456Met Single submitter ⚠
- p.Leu1025Pro Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Leu1312= Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu183= Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu248Phe Single submitter ABCC6-related disorder ⚠
- p.Leu252Phe Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Leu826Pro Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Leu953His Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Lys281Glu Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Met1127Ile Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Phe1048del Single submitter arterial calcification, generalized, of infancy, 2
- p.Phe551Ser Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Phe568Ser Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Pro1251Ser Single submitter ⚠
- p.Ser400Phe Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Ser414= Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser590Phe Single submitter ⚠
- p.Thr1242Met Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Thr364Arg Single submitter retinal disorder ⚠
- p.Thr421= Single submitter
- p.Thr603fs Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Trp967Cys Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Tyr837Ter Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Val1107Ala Single submitter Inborn genetic diseases ⚠
- p.Val1154Ala Single submitter ⚠
- p.Val1175Ala Single submitter Inborn genetic diseases ⚠
- p.Val1202= Single submitter arterial calcification, generalized, of infancy, 2
- p.Val1298Ile Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val354Met Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val514Ile Single submitter ABCC6-related disorder ⚠
- p.Val537= Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- p.Val592Ile Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Val683= Single submitter
- p.Val787Ile Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Val810Met Single submitter arterial calcification, generalized, of infancy, 2 ⚠
Benign 62
- c.1338+20C>G Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1338+62C>G Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1338+7C>G Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1431+73C>G Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1432-41A>G Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.1432-48G>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1635+48C>T Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1780-86G>T Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.1867+60A>G Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1867+86T>C Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.1867+92G>A Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.1868-57G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1943+121T>A Multiple submitters
- c.2666+134del Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.2666+198T>C Multiple submitters
- c.2787+62T>C Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.2788-127A>G Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.2788-154T>C Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3506+83A>C Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3507-16T>C Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3633+100A>C Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3633+55C>T Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3633+90G>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3735+55del Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3882+85C>T Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3883-24G>A Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.4042-30C>T Multiple submitters
- c.4208+9G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.4404-31A>G Multiple submitters pseudoxanthoma elasticum, forme fruste
- c.4404-76A>G Multiple submitters
- c.*17G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ala1291Thr Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala830= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Arg1268Gln Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg724Lys Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Asp163Asn Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Gly1327Glu Multiple submitters ⚠
- p.Gly800= Multiple submitters
- p.His632Gln Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Ile319Val Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Ile742Val Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Leu331= Multiple submitters
- p.Leu448= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Met848Val Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Pro945= Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Thr215= Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Thr630= Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Val415= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Val725= Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1431+11del Single submitter
- c.1636-10del Single submitter
- c.1636-10dup Single submitter
- c.1868-85del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.2416-145G>A Single submitter
- c.3883-46A>G Single submitter
- p.Asp1053Glu Single submitter
- p.Gly1475= Single submitter
- p.Gly1491= Single submitter
- p.Leu994= Single submitter
- p.Met848= Single submitter
- p.Phe713= Single submitter
- p.Ser1367= Single submitter
Benign/Likely benign 30
- c.1636-10C>T Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1943+10G>C Multiple submitters
- c.345+12T>C Multiple submitters arterial calcification, generalized, of infancy, 2
- c.346-6G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3507-19C>T Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3507-3C>T Multiple submitters arterial calcification, generalized, of infancy, 2
- c.4208+8C>T Multiple submitters
- c.*38G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ala158Val Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ala353= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg1064Trp Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Arg1153= Multiple submitters
- p.Arg265Gly Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg769Lys Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Arg887Cys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Asn411= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Asn428= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Asp1326= Multiple submitters Inborn genetic diseases
- p.Asp416= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Glu903Gln Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Gly1284= Multiple submitters
- p.Gly876= Multiple submitters
- p.Ile689= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu1097Ile Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Leu946Ile Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Leu968= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ser451= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Tyr1069= Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Tyr695= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Tyr927= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
Likely benign 543
Showing the top 300 by review status; the full set is in the sitemap.
- c.1338+16A>C Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1432-9C>T Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1636-20G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1636-5C>G Multiple submitters
- c.345+10C>T Multiple submitters arterial calcification, generalized, of infancy, 2
- c.346-7C>T Multiple submitters
- c.3507-14G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3507-15C>T Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3507-17G>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3735+10G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3735+18G>A Multiple submitters
- c.4042-15G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.4042-5G>A Multiple submitters
- c.4404-5C>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.474+13G>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.600+23C>T Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.662+12C>T Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ala1008= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala1172= Multiple submitters
- p.Ala1415= Multiple submitters
- p.Ala624= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala950Val Multiple submitters
- p.Arg1141Gln Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Arg1159= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Arg1398Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg595Trp Multiple submitters ⚠
- p.Arg899Cys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg899His Multiple submitters
- p.Arg940= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Asp1056= Multiple submitters
- p.Asp1368= Multiple submitters
- p.Asp1426= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Gln1392= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Gly523= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.His1290= Multiple submitters Inborn genetic diseases
- p.His1332Gln Multiple submitters Inborn genetic diseases
- p.Ile1297= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Ile456= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu1201= Multiple submitters
- p.Leu1444= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Leu1492= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Leu717= Multiple submitters
- p.Leu841= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Lys1244= Multiple submitters
- p.Phe636= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Phe686= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Phe991= Multiple submitters
- p.Pro1279= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Pro1388= Multiple submitters
- p.Pro664Ser Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Pro883= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ser1121= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Ser132= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Thr1130= Multiple submitters
- p.Thr1188= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Thr1301= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Thr285= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Tyr1098= Multiple submitters
- p.Val1137= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Val37Phe Multiple submitters
- p.Val438Met Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val693= Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1177-12C>T Single submitter
- c.1177-13G>T Single submitter
- c.1177-17T>C Single submitter
- c.1177-18C>T Single submitter
- c.1177-5G>A Single submitter
- c.1177-6C>T Single submitter
- c.1177-8C>A Single submitter
- c.1177-8C>T Single submitter
- c.1338+11G>A Single submitter
- c.1338+13A>T Single submitter
- c.1338+20C>T Single submitter
- c.1338+7C>A Single submitter
- c.1339-10C>G Single submitter
- c.1339-13C>T Single submitter
- c.1339-19C>G Single submitter
- c.1339-4C>T Single submitter
- c.1339-5C>A Single submitter
- c.1339-8A>G Single submitter
- c.1339-9T>A Single submitter
- c.1431+20G>C Single submitter
- c.1432-12C>T Single submitter
- c.1432-13C>G Single submitter
- c.1432-13C>T Single submitter
- c.1432-14C>T Single submitter
- c.1432-17T>C Single submitter
- c.1432-22_1432-19del Single submitter
- c.1432-24CT[2] Single submitter
- c.1432-4C>T Single submitter
- c.1432-8G>A Single submitter
- c.1635+17C>A Single submitter
- c.1635+19C>G Single submitter
- c.1635+7T>A Single submitter
- c.1636-10C>A Single submitter
- c.1636-10C>G Single submitter
- c.1636-16C>A Single submitter
- c.1636-16C>T Single submitter
- c.1636-18G>A Single submitter
- c.1636-7C>A Single submitter
- c.1636-7C>G Single submitter
- c.1636-7C>T Single submitter
- c.1636-8C>A Single submitter
- c.1636-8C>T Single submitter
- c.1779+16G>A Single submitter
- c.1779+18G>A Single submitter
- c.1779+20T>C Single submitter
- c.1779+9G>T Single submitter
- c.1780-10G>T Single submitter
- c.1780-18C>T Single submitter
- c.1867+12G>C Single submitter
- c.1867+13T>C Single submitter
- c.1868-14C>T Single submitter
- c.1868-16C>G Single submitter
- c.1868-16C>T Single submitter
- c.1868-17C>A Single submitter
- c.1868-4G>T Single submitter
- c.1868-9G>A Single submitter
- c.1943+10G>A Single submitter
- c.1943+15C>A Single submitter
- c.1943+16C>G Single submitter
- c.1943+16C>T Single submitter
- c.1943+16del Single submitter
- c.1943+17G>A Single submitter
- c.1943+20G>A Single submitter
- c.1944-10G>C Single submitter
- c.1944-15C>G Single submitter
- c.1944-15C>T Single submitter
- c.1944-16C>T Single submitter
- c.1944-18C>T Single submitter
- c.1944-5T>C Single submitter
- c.1944-8G>C Single submitter
- c.1944-9C>T Single submitter
- c.2070+10C>T Single submitter
- c.2070+12C>T Single submitter
- c.2070+13C>G Single submitter
- c.2070+20G>C Single submitter
- c.2071-12G>A Single submitter
- c.2071-18A>C Single submitter
- c.2247+15G>A Single submitter
- c.2247+17C>A Single submitter
- c.2248-19G>A Single submitter
- c.2248-19G>C Single submitter
- c.2248-7G>A Single submitter
- c.2415+11G>A Single submitter
- c.2415+16T>C Single submitter
- c.2416-15C>G Single submitter
- c.2416-5C>T Single submitter
- c.2416-6G>A Single submitter
- c.2590+13C>T Single submitter
- c.2590+9T>C Single submitter
- c.2591-13C>G Single submitter
- c.2591-15C>T Single submitter
- c.2666+10C>T Single submitter
- c.2666+12A>G Single submitter
- c.2666+15G>A Single submitter
- c.2666+15G>T Single submitter
- c.2666+18C>T Single submitter
- c.2666+8C>G Single submitter
- c.2667-9A>G Single submitter
- c.2787+13_2787+16dup Single submitter
- c.2787+17C>A Single submitter
- c.2787+20A>G Single submitter
- c.2787+8C>T Single submitter
- c.2788-12T>C Single submitter
- c.2788-13_2788-12del Single submitter
- c.2788-13A>T Single submitter
- c.2788-7G>A Single submitter
- c.2995+12C>T Single submitter
- c.2995+14G>A Single submitter
- c.2995+17C>T Single submitter
- c.2995+20_2995+22del Single submitter
- c.2995+9C>T Single submitter
- c.2996-16T>A Single submitter
- c.2996-5C>T Single submitter
- c.2996-7_2996-4del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.2996-9C>T Single submitter
- c.3306+14A>G Single submitter
- c.3306+17G>A Single submitter
- c.3306+7A>C Single submitter
- c.3307-10T>C Single submitter
- c.3307-16C>G Single submitter
- c.3307-17C>G Single submitter
- c.3307-5C>T Single submitter
- c.3307-6T>C Single submitter
- c.345+26C>T Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.3506+10G>A Single submitter
- c.3506+12C>T Single submitter
- c.3506+15G>A Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.3506+19G>C Single submitter
- c.3506+20A>C Single submitter
- c.3633+14C>G Single submitter
- c.3633+19A>G Single submitter
- c.3634-10C>T Single submitter
- c.3634-13T>C Single submitter
- c.3634-15G>A Single submitter
- c.3634-15G>C Single submitter
- c.3634-15G>T Single submitter
- c.3634-17A>G Single submitter
- c.3634-20G>A Single submitter
- c.3634-4C>T Single submitter
- c.3735+12G>A Single submitter
- c.3735+12G>C Single submitter
- c.3735+14G>A Single submitter
- c.3735+9C>A Single submitter
- c.3735+9C>T Single submitter
- c.3736-12C>G Single submitter
- c.3736-13C>T Single submitter
- c.3736-20A>G Single submitter
- c.3736-4C>T Single submitter
- c.3736-6C>G Single submitter
- c.3736-6C>T Single submitter
- c.3882+8G>A Single submitter
- c.3882+9T>C Single submitter
- c.3883-10C>A Single submitter
- c.3883-7C>T Single submitter
- c.4041+16G>C Single submitter
- c.4041+16G>T Single submitter
- c.4041+17G>A Single submitter
- c.4041+18G>A Single submitter
- c.4041+19G>A Single submitter
- c.4041+19G>T Single submitter
- c.4042-14C>A Single submitter
- c.4042-16C>T Single submitter
- c.4042-17C>A Single submitter
- c.4042-20C>A Single submitter
- c.4042-29G>A Single submitter
- c.4042-6C>T Single submitter
- c.4042-7C>T Single submitter
- c.4042-8C>G Single submitter
- c.4208+11C>T Single submitter
- c.4208+12C>A Single submitter
- c.4208+8C>G Single submitter
- c.4209-18T>C Single submitter
- c.4209-20A>T Single submitter
- c.4209-6T>C Single submitter
- c.4209-8G>A Single submitter
- c.4209-9C>T Single submitter
- c.4403+11C>G Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.4403+11C>T Single submitter
- c.4403+12G>A Single submitter
- c.4403+16C>T Single submitter
- c.4403+17G>A Single submitter
- c.4403+7C>A Single submitter
- c.4403+7C>G Single submitter
- c.4403+9C>T Single submitter
- c.4404-14C>T Single submitter
- c.4404-15C>G Single submitter
- c.4404-17C>G Single submitter
- c.4404-17C>T Single submitter
- c.4404-20T>C Single submitter
- c.4404-20T>G Single submitter
- c.4404-23_4404-20del Single submitter
- c.4404-5C>G Single submitter
- c.4404-5C>T Single submitter
- c.4404-7C>A Single submitter
- c.4404-7C>T Single submitter
- c.663-3C>T Single submitter
- p.Ala1014= Single submitter
- p.Ala1090= Single submitter
- p.Ala1139= Single submitter
- p.Ala1173= Single submitter
- p.Ala1309= Single submitter
- p.Ala1431= Single submitter
- p.Ala1457= Single submitter
- p.Ala1478= Single submitter
- p.Ala158= Single submitter
- p.Ala395= Single submitter
- p.Ala403= Single submitter
- p.Ala405= Single submitter
- p.Ala457= Single submitter
- p.Ala558= Single submitter
- p.Ala567= Single submitter
- p.Ala594= Single submitter
- p.Ala634= Single submitter
- p.Ala675= Single submitter
- p.Ala772= Single submitter
- p.Ala904= Single submitter
- p.Ala932= Single submitter
- p.Ala941= Single submitter
- p.Ala960= Single submitter
- p.Ala972= Single submitter
- p.Ala985= Single submitter
- p.Arg1015= Single submitter
- p.Arg1018= Single submitter
- p.Arg1038= Single submitter
- p.Arg1114= Single submitter
- p.Arg1138= Single submitter
- p.Arg1268= Single submitter
- p.Arg1273= Single submitter
- p.Arg1300= Single submitter
- p.Arg1339= Single submitter
- p.Arg1341= Single submitter
- p.Arg1357= Single submitter
- p.Arg1459= Single submitter
- p.Arg1461= Single submitter
- p.Arg473= Single submitter
- p.Arg482= Single submitter
- p.Arg487= Single submitter
- p.Arg518= Single submitter
Uncertain significance 739
Showing the top 300 by review status; the full set is in the sitemap.
- c.1635+5C>T Multiple submitters arterial calcification, generalized, of infancy, 2
- c.1780-11G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.2070+5G>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.3306+5G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3882+5G>A Multiple submitters arterial calcification, generalized, of infancy, 2
- c.3883-5G>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Ala1008Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1070Thr Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala1144Val Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala1172Val Multiple submitters ⚠
- p.Ala1186Asp Multiple submitters ⚠
- p.Ala1331Val Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala1370Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala1385Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala187Val Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala263Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala353Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala405Val Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala452Thr Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala488Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala524Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala524Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala547Ser Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala567Thr Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala637Thr Multiple submitters ⚠
- p.Ala692Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala764Val Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala781Val Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala78Thr Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala832Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala846Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala879Thr Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala920Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala976Thr Multiple submitters ⚠
- p.Arg1015Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1015Trp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1038Gln Multiple submitters ⚠
- p.Arg1038Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1064Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1153Cys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1268Trp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1275Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1414His Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1418= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Arg1418Gln Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg1459Cys Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Arg1461Cys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1461His Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg1468Trp Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Arg251Trp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg264Trp Multiple submitters ⚠
- p.Arg382Gln Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Arg382Trp Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg489Trp Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg526Gln Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg526Trp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg595Gln Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Arg64Gln Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg887His Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg940Cys Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Arg964Pro Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Arg987Cys Multiple submitters ABCC6-related disorder ⚠
- p.Arg987His Multiple submitters Inborn genetic diseases ⚠
- p.Asn411Ser Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Asn428Lys Multiple submitters ⚠
- p.Asn497Lys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Asp1326Gly Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Asp1397Asn Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Asp416Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp736Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp914His Multiple submitters Inborn genetic diseases ⚠
- p.Asp923Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp973Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp974Glu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Asp974Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys440Gly Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Cys712Arg Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gln363Pro Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gln655Lys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gln803Arg Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gln803His Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gln981His Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Glu1266Lys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Glu1293Gln Multiple submitters ⚠
- p.Glu1369Lys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Glu422Lys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Glu690Lys Multiple submitters ⚠
- p.Glu699Lys Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Glu709Lys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Glu884Lys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Glu896Lys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1012Asp Multiple submitters ⚠
- p.Gly1327Arg Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1389Ser Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly1399= Multiple submitters pseudoxanthoma elasticum, forme fruste
- p.Gly1481Ser Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gly157Arg Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gly399Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly429Arg Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly519Ser Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly613Ser Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly61Ser Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly625Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly656Ser Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gly663Ser Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gly799Val Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Gly928Ser Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Gly965Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly979Arg Multiple submitters ⚠
- p.Gly989Arg Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.His1196Asp Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.His56Arg Multiple submitters Inborn genetic diseases ⚠
- p.His790Tyr Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ile494Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile501Phe Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Ile629Val Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ile631Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile746Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu1409His Multiple submitters ⚠
- p.Leu1444Phe Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Leu374Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu420Val Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Leu434Val Multiple submitters ⚠
- p.Leu525Phe Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Leu676Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu970Gln Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Lys1062Glu Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Lys273Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys579Glu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Lys844Gln Multiple submitters ABCC6-related disorder ⚠
- p.Lys892Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met1464Thr Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Met280Ile Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Met356Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met834Thr Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Phe1036del Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Phe1101Leu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Phe1204Leu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Phe1493Leu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Phe604Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1163Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1247Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro1247Ser Multiple submitters ⚠
- p.Pro1257His Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Pro1258Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro1260Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro1279Leu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Pro1483Gln Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Pro1483Leu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Pro191His Multiple submitters Inborn genetic diseases ⚠
- p.Pro233Leu Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Pro49Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro779Thr Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Pro867Ser Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Pro913His Multiple submitters Inborn genetic diseases ⚠
- p.Pro913Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser1031Cys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ser1049Ala Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ser1109Leu Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ser1198Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser1229Asn Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ser1403= Multiple submitters arterial calcification, generalized, of infancy, 2
- p.Ser317Arg Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ser398Ile Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ser498Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser535Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser587Cys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ser618Asn Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ser688Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser754Cys Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Ser893Leu Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Ser961Phe Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Thr1252Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr1252Ile Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Thr1252Pro Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Thr1377Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr421Ala Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Thr652Met Multiple submitters ⚠
- p.Thr805= Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- p.Thr906Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp1241Cys Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Trp431Arg Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val1076Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val1080Ala Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Val1154Ile Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val1183Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val1202Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1206Ile Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val1231Met Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val1285Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val1333Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val1384Ala Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val1404Met Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val1432Met Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val415Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val417Met Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val435Ile Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Val439Ile Multiple submitters pseudoxanthoma elasticum, forme fruste ⚠
- p.Val442Ile Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val534Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val550Ala Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val553Ile Multiple submitters ⚠
- p.Val592Leu Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val615Ile Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val687Met Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Val696Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val702Leu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val707Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val711Leu Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val711Met Multiple submitters arterial calcification, generalized, of infancy, 2 ⚠
- p.Val87Met Multiple submitters Inborn genetic diseases ⚠
- c.1176+973C>T Single submitter arterial calcification, generalized, of infancy, 2
- c.1338+6_1338+7delinsTG Single submitter
- c.1431+3T>G Single submitter pseudoxanthoma elasticum, forme fruste
- c.1432-22C>A Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.144_795-3del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.1635+6G>A Single submitter
- c.1636-3C>T Single submitter
- c.1636-3dup Single submitter pseudoxanthoma elasticum, forme fruste
- c.1780-3T>C Single submitter
- c.1943+4C>T Single submitter
- c.219+41G>A Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.2247+22T>G Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.2590+4C>T Single submitter
- c.2666+7C>T Single submitter
- c.2995+1354_2995+1439dup Single submitter
- c.2995+4C>G Single submitter
- c.2995+4C>T Single submitter
- c.2995+5G>A Single submitter
- c.2996-?_4208+?del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.3306+4C>T Single submitter
- c.3306+5G>C Single submitter arterial calcification, generalized, of infancy, 2
- c.3507-17_3507-16inv Single submitter
- c.3507-3C>A Single submitter
- c.3633+5T>C Single submitter
- c.3735+3G>A Single submitter
- c.3735+3G>C Single submitter
- c.3736-7_3736-6delinsAA Single submitter inherited retinal dystrophy
- c.4041+3G>A Single submitter pseudoxanthoma elasticum, forme fruste
- c.4208+6G>A Single submitter
- c.4209-11A>G Single submitter
- c.4209-3C>T Single submitter
- c.4403+1G>C Single submitter
- c.4403+6G>T Single submitter
- c.4404-2A>C Single submitter
- c.600+1G>A Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.601-11_601-10insGGA Single submitter pseudoxanthoma elasticum, forme fruste
- c.601-5T>A Single submitter pseudoxanthoma elasticum, forme fruste
- c.795-11C>T Single submitter pseudoxanthoma elasticum, forme fruste
- c.795-131_795-3del Single submitter autosomal recessive inherited pseudoxanthoma elasticum
- c.998+5G>A Single submitter pseudoxanthoma elasticum, forme fruste
- p.Ala1016Ser Single submitter ⚠
- p.Ala101Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1090Val Single submitter Inborn genetic diseases ⚠
- p.Ala1099Thr Single submitter ⚠
- p.Ala1139Val Single submitter ⚠
- p.Ala1152Val Single submitter ⚠
- p.Ala1172Glu Single submitter ⚠
- p.Ala1187Val Single submitter ⚠
- p.Ala1199Thr Single submitter ⚠
- p.Ala1209Thr Single submitter ⚠
- p.Ala1254Thr Single submitter ⚠
- p.Ala1318Thr Single submitter arterial calcification, generalized, of infancy, 2 ⚠
- p.Ala1319Ser Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala1370Val Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala1385Thr Single submitter ⚠
- p.Ala1428Ser Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala1457Val Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala1497Thr Single submitter ⚠
- p.Ala1497Val Single submitter ⚠
- p.Ala187= Single submitter pseudoxanthoma elasticum, forme fruste
- p.Ala214Thr Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala23Thr Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala282Pro Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala2Thr Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala395Thr Single submitter ⚠
- p.Ala403Asp Single submitter ⚠
- p.Ala455Val Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala457Gly Single submitter ⚠
- p.Ala457Thr Single submitter ⚠
- p.Ala524Pro Single submitter Inborn genetic diseases ⚠
- p.Ala623Thr Single submitter ⚠
- p.Ala634Val Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala667Ser Single submitter ⚠
- p.Ala667Thr Single submitter Inborn genetic diseases ⚠
- p.Ala675Thr Single submitter ⚠
- p.Ala764Ser Single submitter ⚠
- p.Ala766Val Single submitter ⚠
- p.Ala781Thr Single submitter autosomal recessive inherited pseudoxanthoma elasticum ⚠
- p.Ala813Thr Single submitter ⚠
- p.Ala830Thr Single submitter ⚠
- p.Ala846Thr Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala879Glu Single submitter Inborn genetic diseases ⚠
- p.Ala88Val Single submitter pseudoxanthoma elasticum, forme fruste ⚠
- p.Ala916Val Single submitter ⚠
- p.Ala937Asp Single submitter ⚠
- p.Ala941Thr Single submitter Inborn genetic diseases ⚠
- p.Ala972Val Single submitter ⚠
- p.Ala985Asp Single submitter ⚠
- p.Ala985Val Single submitter ⚠