ADAMTS18 — 1232 ClinVar variants
All ClinVar germline ADAMTS18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 620 flagged for review →
44 Pathogenic · 3 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 18 Conflicting · 54 Benign · 5 Benign/Likely benign · 477 Likely benign · 619 Uncertain significance
Full ADAMTS18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 620
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ADAMTS18 p.Ala13Pro
Conflicting
Single submitter
inherited retinal dystrophy
-
ADAMTS18 p.Arg1112Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Arg873Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Glu240Val
Conflicting
Single submitter
ADAMTS18-related disorder
-
ADAMTS18 p.Gly1210Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Gly219Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.His231Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Leu1088Met
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Lys610Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Pro218Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Thr906Ile
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Val565Ile
Conflicting
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Val578Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 332
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 332
-
ADAMTS18 p.Ala207Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ala286Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ala527Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ala54Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ala928Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg1113Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg1170Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg213Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg246Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg247Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg247Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg548Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg603Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Asn379His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Asn639Ser
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADAMTS18 p.Asn826Ser Uncertain significance Multiple submitters
-
ADAMTS18 p.Asp539Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gln187Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gln503Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gln783Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gln796Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gln957His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Glu1081Lys Uncertain significance Multiple submitters
-
ADAMTS18 p.Gly1140Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gly56Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gly84Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.His231Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.His234Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ile1089Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ile1089Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ile634Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ile880Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu184Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu405Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu794Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Lys137Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Lys509Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Lys924Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Met864Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Phe1091Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Phe253Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro18Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro19Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro282Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro498Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro511Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro662Arg
Uncertain significance
Multiple submitters
microcornea-myopic chorioretinal atrophy
-
ADAMTS18 p.Pro813His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ser228Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ser74Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ser996Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Thr1090Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Thr241Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Tyr658His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Val740Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Ala10Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala10Val Uncertain significance Single submitter
-
ADAMTS18 p.Ala1179Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala14Val Uncertain significance Single submitter
- ADAMTS18 p.Ala158Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala23Gly Uncertain significance Single submitter
- ADAMTS18 p.Ala23Val Uncertain significance Single submitter
- ADAMTS18 p.Ala261Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala31Val Uncertain significance Single submitter
-
ADAMTS18 p.Ala374Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala386Gly Uncertain significance Single submitter
-
ADAMTS18 p.Ala491Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala527Val Uncertain significance Single submitter
-
ADAMTS18 p.Ala54Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala560Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala594Pro Uncertain significance Single submitter
- ADAMTS18 p.Ala761Gly Uncertain significance Single submitter
-
ADAMTS18 p.Ala8Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala8Val Uncertain significance Single submitter
- ADAMTS18 p.Ala90Val Uncertain significance Single submitter
-
ADAMTS18 p.Ala915Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Ala933Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala93Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala985Pro Uncertain significance Single submitter
- ADAMTS18 p.Arg1095Lys Uncertain significance Single submitter
- ADAMTS18 p.Arg1095Thr Uncertain significance Single submitter
- ADAMTS18 p.Arg1155Gln Uncertain significance Single submitter
-
ADAMTS18 p.Arg1219Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg172Gln Uncertain significance Single submitter
- ADAMTS18 p.Arg215His Uncertain significance Single submitter
- ADAMTS18 p.Arg215Ser Uncertain significance Single submitter
- ADAMTS18 p.Arg222Trp Uncertain significance Single submitter
-
ADAMTS18 p.Arg239Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg256Gln Uncertain significance Single submitter
- ADAMTS18 p.Arg257His Uncertain significance Single submitter
- ADAMTS18 p.Arg257Pro Uncertain significance Single submitter
- ADAMTS18 p.Arg272Ser Uncertain significance Single submitter
-
ADAMTS18 p.Arg283Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg284Ser Uncertain significance Single submitter
- ADAMTS18 p.Arg479Cys Uncertain significance Single submitter
- ADAMTS18 p.Arg479Leu Uncertain significance Single submitter
- ADAMTS18 p.Arg586Gln Uncertain significance Single submitter
- ADAMTS18 p.Arg603Gly Uncertain significance Single submitter
- ADAMTS18 p.Arg823Cys Uncertain significance Single submitter
-
ADAMTS18 p.Arg827Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADAMTS18 p.Arg902Pro Uncertain significance Single submitter
-
ADAMTS18 p.Asn1098Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asn1122Lys Uncertain significance Single submitter
- ADAMTS18 p.Asn1122Ser Uncertain significance Single submitter
-
ADAMTS18 p.Asn1173Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Asn223Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asn379Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn423Ile Uncertain significance Single submitter
-
ADAMTS18 p.Asn468Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Asn469Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asn712Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn865His Uncertain significance Single submitter
- ADAMTS18 p.Asn905Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn909Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn92Asp Uncertain significance Single submitter
-
ADAMTS18 p.Asp1105Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asp268Val Uncertain significance Single submitter
- ADAMTS18 p.Asp274Gly Uncertain significance Single submitter
- ADAMTS18 p.Asp331His Uncertain significance Single submitter
-
ADAMTS18 p.Asp447Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asp518His Uncertain significance Single submitter
- ADAMTS18 p.Asp60Asn Uncertain significance Single submitter
-
ADAMTS18 p.Cys1018Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Cys1031Tyr Uncertain significance Single submitter
- ADAMTS18 p.Cys1188Ser Uncertain significance Single submitter
- ADAMTS18 p.Cys1195Tyr Uncertain significance Single submitter
- ADAMTS18 p.Cys39Ser Uncertain significance Single submitter
- ADAMTS18 p.Cys453Arg Uncertain significance Single submitter
- ADAMTS18 p.Cys553Tyr Uncertain significance Single submitter
-
ADAMTS18 p.Cys572Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Cys577Trp
Uncertain significance
Single submitter
microcornea-myopic chorioretinal atrophy
- ADAMTS18 p.Cys577Tyr Uncertain significance Single submitter
-
ADAMTS18 p.Cys601Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Cys605Ser Uncertain significance Single submitter
-
ADAMTS18 p.Cys900Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Cys913Ser Uncertain significance Single submitter
- ADAMTS18 p.Cys991Tyr Uncertain significance Single submitter
- ADAMTS18 p.Gln1055Pro Uncertain significance Single submitter
-
ADAMTS18 p.Gln1085Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Gln1153Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Gln136Glu Uncertain significance Single submitter
- ADAMTS18 p.Gln136Pro Uncertain significance Single submitter
- ADAMTS18 p.Gln183His Uncertain significance Single submitter
- ADAMTS18 p.Gln187Leu Uncertain significance Single submitter
- ADAMTS18 p.Gln237Pro Uncertain significance Single submitter
- ADAMTS18 p.Gln290Lys Uncertain significance Single submitter
- ADAMTS18 p.Gln350Glu Uncertain significance Single submitter
- ADAMTS18 p.Gln363Arg Uncertain significance Single submitter
-
ADAMTS18 p.Gln372Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Gln591Lys Uncertain significance Single submitter
Predictors split 275
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 275
-
ADAMTS18 p.Ala186Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ala772Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ala870Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Ala985Gly Likely benign Multiple submitters
-
ADAMTS18 p.Arg1009Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg1047Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Arg1097His Likely benign Multiple submitters
-
ADAMTS18 p.Arg1146Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg1155Trp
Uncertain significance
Multiple submitters
Leber congenital amaurosis
- ADAMTS18 p.Arg213Trp Benign/Likely benign Multiple submitters
-
ADAMTS18 p.Arg215Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg257Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg603Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg633Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Arg664His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Arg830Cys Likely benign Multiple submitters
-
ADAMTS18 p.Asn190Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Asn190Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Asn358Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Asn690Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Asp1185Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Asp807Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Glu209Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gly196Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gly53Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gly581Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Gly938Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.His547Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu1026Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu112Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu118Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu32Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Leu626Ile Benign Multiple submitters
-
ADAMTS18 p.Leu789Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu794Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Leu81Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Lys1074Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Lys308Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Lys683Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Phe525Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro1131Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro114Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro1167Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro1199Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro642Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro766Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro828Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro874Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro923His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro923Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro932Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro976Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Pro993Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Ser1080Arg Benign Multiple submitters
-
ADAMTS18 p.Ser596Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Ser89Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Thr840Met
Uncertain significance
Multiple submitters
microcornea-myopic chorioretinal atrophy
- ADAMTS18 p.Val201Ile Benign Multiple submitters
-
ADAMTS18 p.Val676Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Val676Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Val734Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Val791Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADAMTS18 p.Val881Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADAMTS18 p.Ala1022Val Uncertain significance Single submitter
- ADAMTS18 p.Ala1171Asp Uncertain significance Single submitter
- ADAMTS18 p.Ala13Thr Uncertain significance Single submitter
-
ADAMTS18 p.Ala14Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala14Thr Uncertain significance Single submitter
-
ADAMTS18 p.Ala158Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala195Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala195Val Uncertain significance Single submitter
- ADAMTS18 p.Ala23Glu Uncertain significance Single submitter
- ADAMTS18 p.Ala40Pro Uncertain significance Single submitter
-
ADAMTS18 p.Ala44Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala44Gly Uncertain significance Single submitter
- ADAMTS18 p.Ala45Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala529Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala72Val Uncertain significance Single submitter
-
ADAMTS18 p.Ala737Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Ala772Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Ala790Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Ala815Ser Uncertain significance Single submitter
- ADAMTS18 p.Ala833Thr Uncertain significance Single submitter
- ADAMTS18 p.Ala859Gly Uncertain significance Single submitter
-
ADAMTS18 p.Ala90Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg100Gln Uncertain significance Single submitter
-
ADAMTS18 p.Arg1053Trp
Conflicting
Single submitter
microcornea-myopic chorioretinal atrophy
- ADAMTS18 p.Arg1097Cys Likely benign Single submitter
- ADAMTS18 p.Arg1097Pro Uncertain significance Single submitter
- ADAMTS18 p.Arg1113Trp Uncertain significance Single submitter
- ADAMTS18 p.Arg172Leu Uncertain significance Single submitter
- ADAMTS18 p.Arg479His Uncertain significance Single submitter
- ADAMTS18 p.Arg552Ser Uncertain significance Single submitter
- ADAMTS18 p.Arg573Trp Uncertain significance Single submitter
-
ADAMTS18 p.Arg586Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg633His Uncertain significance Single submitter
- ADAMTS18 p.Arg633Leu Uncertain significance Single submitter
- ADAMTS18 p.Arg651Trp Uncertain significance Single submitter
- ADAMTS18 p.Arg681Pro Uncertain significance Single submitter
- ADAMTS18 p.Arg775Gln Uncertain significance Single submitter
-
ADAMTS18 p.Arg792Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg823His Uncertain significance Single submitter
-
ADAMTS18 p.Arg827Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg830His Uncertain significance Single submitter
- ADAMTS18 p.Arg830Pro Uncertain significance Single submitter
- ADAMTS18 p.Arg85Gly Uncertain significance Single submitter
-
ADAMTS18 p.Arg873Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Arg88Gln Uncertain significance Single submitter
- ADAMTS18 p.Arg88Leu Uncertain significance Single submitter
- ADAMTS18 p.Arg902Gln Uncertain significance Single submitter
- ADAMTS18 p.Asn1111Asp Uncertain significance Single submitter
- ADAMTS18 p.Asn1111Tyr Uncertain significance Single submitter
-
ADAMTS18 p.Asn294Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asn294Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn358Thr Likely benign Single submitter
- ADAMTS18 p.Asn423Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn459Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn617Ser Uncertain significance Single submitter
- ADAMTS18 p.Asn838Asp Uncertain significance Single submitter
-
ADAMTS18 p.Asn838Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Asp1105Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Asp1185Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADAMTS18 p.Asp130Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asp130Val Uncertain significance Single submitter
- ADAMTS18 p.Asp152Gly Uncertain significance Single submitter
- ADAMTS18 p.Asp516Glu Uncertain significance Single submitter
- ADAMTS18 p.Asp539Asn Uncertain significance Single submitter
-
ADAMTS18 p.Asp649Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asp680Tyr Uncertain significance Single submitter
- ADAMTS18 p.Asp713Val Uncertain significance Single submitter
-
ADAMTS18 p.Asp807Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Asp807Glu Uncertain significance Single submitter
- ADAMTS18 p.Asp903Gly Uncertain significance Single submitter
- ADAMTS18 p.Cys38Tyr Uncertain significance Single submitter
-
ADAMTS18 p.Cys39Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Cys3Tyr Uncertain significance Single submitter
-
ADAMTS18 p.Gln106Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Gln1144Glu Uncertain significance Single submitter
- ADAMTS18 p.Gln350Arg Uncertain significance Single submitter
-
ADAMTS18 p.Gln363Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Gln576Arg Uncertain significance Single submitter
- ADAMTS18 p.Gln653Glu Uncertain significance Single submitter
-
ADAMTS18 p.Gln669Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ADAMTS18 p.Gln907His Uncertain significance Single submitter
- ADAMTS18 p.Glu1028Lys Uncertain significance Single submitter
- ADAMTS18 p.Glu1076Asp Uncertain significance Single submitter
- ADAMTS18 p.Glu1184Gly Uncertain significance Single submitter
- ADAMTS18 p.Glu139Lys Uncertain significance Single submitter
- ADAMTS18 p.Glu349Gly Uncertain significance Single submitter
-
ADAMTS18 p.Glu400Asp
Uncertain significance
Single submitter
Inborn genetic diseases
All ADAMTS18 variants
Pathogenic 44
- p.Arg88Ter Multiple submitters microcornea-myopic chorioretinal atrophy
- p.Ala1023fs Single submitter
- p.Arg1009Ter Single submitter
- p.Arg1036fs Single submitter
- p.Arg1047Ter Single submitter microcornea-myopic chorioretinal atrophy
- p.Arg1073fs Single submitter
- p.Arg1094Ter Single submitter
- p.Arg1112Ter Single submitter microcornea-myopic chorioretinal atrophy
- p.Arg172Ter Single submitter microcornea-myopic chorioretinal atrophy
- p.Arg246Ter Single submitter
- p.Arg256Ter Single submitter
- p.Arg281Ter Single submitter microcornea-myopic chorioretinal atrophy
- p.Arg382Ter Single submitter
- p.Arg418Ter Single submitter
- p.Arg548Ter Single submitter
- p.Arg775Ter Single submitter
- p.Arg792Ter Single submitter
- p.Arg902Ter Single submitter
- p.Gln106Ter Single submitter
- p.Gln1152Ter Single submitter
- p.Gln141Ter Single submitter
- p.Glu1028Ter Single submitter
- p.Glu208Ter Single submitter
- p.Gly219fs Single submitter
- p.Gly312Ter Single submitter
- p.Gly467Ter Single submitter
- p.Gly704Ter Single submitter
- p.Gly938fs Single submitter
- p.His197fs Single submitter
- p.Leu184fs Single submitter
- p.Lys1082Ter Single submitter
- p.Lys250fs Single submitter
- p.Lys732Ter Single submitter
- p.Phe695fs Single submitter
- p.Phe812fs Single submitter
- p.Ser1158Ter Single submitter
- p.Ser735Ter Single submitter
- p.Ser77Ter Single submitter
- p.Trp666Ter Single submitter
- p.Tyr788Ter Single submitter
- p.Val306fs Single submitter
- p.Gln33Ter No assertion criteria microcornea-myopic chorioretinal atrophy
- p.Glu689Ter No assertion criteria microcornea-myopic chorioretinal atrophy
- p.Leu202Pro No assertion criteria microcornea-myopic chorioretinal atrophy
Pathogenic/Likely pathogenic 3
- c.3006+1G>A Multiple submitters
- p.Gln350Ter Multiple submitters ADAMTS18-related disorder
- p.Trp1127Ter Multiple submitters retinal disorder
Likely pathogenic 12
- c.179-2A>G Single submitter
- c.2287+2T>G Single submitter
- c.2533-1G>A Single submitter
- c.3007-1G>C Single submitter
- c.3189+2T>A Single submitter
- c.3402+1G>A Single submitter
- c.3402+2T>G Single submitter
- c.3403-1G>A Single submitter
- c.778+5G>T Single submitter ADAMTS18-related disorder
- c.91-1G>C Single submitter
- c.91-2A>G Single submitter
- p.Pro1092fs Single submitter microcornea-myopic chorioretinal atrophy
Conflicting classifications of pathogenicity 18
- p.Ala13Pro Single submitter inherited retinal dystrophy ⚠
- p.Arg1053Trp Single submitter microcornea-myopic chorioretinal atrophy ⚠
- p.Arg1112Gln Single submitter Inborn genetic diseases ⚠
- p.Arg873Thr Single submitter Inborn genetic diseases ⚠
- p.Glu240Val Single submitter ADAMTS18-related disorder ⚠
- p.Gly1210Arg Single submitter Inborn genetic diseases ⚠
- p.Gly219Ser Single submitter Inborn genetic diseases ⚠
- p.His231Tyr Single submitter Inborn genetic diseases ⚠
- p.Leu1088Met Single submitter Inborn genetic diseases ⚠
- p.Lys610Arg Single submitter Inborn genetic diseases ⚠
- p.Lys918Glu Single submitter inherited retinal dystrophy ⚠
- p.Pro1116Thr Single submitter Inborn genetic diseases ⚠
- p.Pro218Arg Single submitter Inborn genetic diseases ⚠
- p.Pro834Ser Single submitter Inborn genetic diseases ⚠
- p.Ser487= Single submitter Inborn genetic diseases
- p.Thr906Ile Single submitter Inborn genetic diseases ⚠
- p.Val565Ile Single submitter Inborn genetic diseases ⚠
- p.Val578Ile Single submitter Inborn genetic diseases ⚠
Benign 54
- c.1217-10C>G Multiple submitters
- c.1322+8C>G Multiple submitters
- c.1710+20G>C Multiple submitters
- c.2533-20T>G Multiple submitters
- c.3190-16C>G Multiple submitters
- c.3403-4G>A Multiple submitters
- c.3551-17A>T Multiple submitters
- c.972+4A>G Multiple submitters
- p.Ala1058Thr Multiple submitters
- p.Ala594Thr Multiple submitters
- p.Ala946Ser Multiple submitters
- p.Arg1014Cys Multiple submitters
- p.Asn1175= Multiple submitters
- p.Asn826His Multiple submitters
- p.Asp447= Multiple submitters
- p.Cys1048= Multiple submitters
- p.Gln1040= Multiple submitters
- p.Gln783= Multiple submitters
- p.Glu188Lys Multiple submitters
- p.Gly730= Multiple submitters
- p.His200= Multiple submitters
- p.Leu319= Multiple submitters
- p.Leu626Ile Multiple submitters ⚠
- p.Leu769Ile Multiple submitters
- p.Met847Ile Multiple submitters
- p.Ser1080Arg Multiple submitters ⚠
- p.Ser1159Thr Multiple submitters
- p.Tyr191His Multiple submitters microcornea-myopic chorioretinal atrophy
- p.Val201Ile Multiple submitters ⚠
- p.Val977= Multiple submitters
- c.1615-17dup Single submitter
- c.1615-20C>T Single submitter
- c.1615-8del Single submitter
- c.1615-8dup Single submitter
- c.178+17dup Single submitter
- c.2163+11G>A Single submitter
- c.3403-4G>C Single submitter
- c.972+11dup Single submitter
- p.Ala90= Single submitter
- p.Arg1146= Single submitter
- p.Glu820= Single submitter
- p.Gly1020= Single submitter
- p.Leu32= Single submitter
- p.Leu544= Single submitter
- p.Leu846= Single submitter
- p.Lys173Glu Single submitter
- p.Phe1191= Single submitter
- p.Pro507= Single submitter
- p.Pro766= Single submitter
- p.Ser278= Single submitter
- p.Thr161= Single submitter
- p.Thr488= Single submitter
- p.Tyr191= Single submitter
- p.Val157= Single submitter
Benign/Likely benign 5
- p.Arg213Trp Multiple submitters ⚠
- p.Arg827His Multiple submitters Inborn genetic diseases
- p.Pro12Arg Multiple submitters
- p.Pro836= Multiple submitters
- p.Val1189Ile Multiple submitters
Likely benign 477
Showing the top 300 by review status; the full set is in the sitemap.
- c.1057-3T>C Multiple submitters
- c.1710+7T>C Multiple submitters
- c.3190-4C>T Multiple submitters
- c.3551-18T>A Multiple submitters
- p.Ala985Gly Multiple submitters ⚠
- p.Arg1097His Multiple submitters ⚠
- p.Arg382Lys Multiple submitters
- p.Arg830Cys Multiple submitters ⚠
- p.Gln146His Multiple submitters
- p.Gly1210= Multiple submitters
- p.Ile76= Multiple submitters
- p.Ser698= Multiple submitters
- c.1056+10A>C Single submitter
- c.1056+13C>T Single submitter
- c.1056+15T>G Single submitter
- c.1056+8G>A Single submitter
- c.1057-16T>C Single submitter
- c.1057-18del Single submitter
- c.1216+10G>A Single submitter
- c.1216+17T>C Single submitter
- c.1217-4A>T Single submitter
- c.1217-5A>G Single submitter
- c.1217-6dup Single submitter
- c.1217-8T>G Single submitter
- c.1322+9C>G Single submitter
- c.1323-12A>G Single submitter
- c.1323-17T>C Single submitter
- c.1323-4T>G Single submitter
- c.1460+17C>A Single submitter
- c.1460+8A>G Single submitter
- c.1461-13A>G Single submitter
- c.1461-17A>C Single submitter
- c.1614+13G>C Single submitter
- c.1614+18T>G Single submitter
- c.1614+20C>T Single submitter
- c.1615-14T>A Single submitter
- c.1615-16T>C Single submitter
- c.1615-19C>A Single submitter
- c.1615-19C>T Single submitter
- c.1615-7A>C Single submitter
- c.1615-8T>A Single submitter
- c.1710+11T>A Single submitter
- c.1710+13C>A Single submitter
- c.1710+17T>C Single submitter
- c.1710+8G>T Single submitter
- c.1710+9C>A Single submitter
- c.1711-10C>T Single submitter
- c.1711-11T>G Single submitter
- c.1711-13G>A Single submitter
- c.1711-14C>T Single submitter
- c.1711-7T>C Single submitter
- c.1711-8T>G Single submitter
- c.178+12C>A Single submitter
- c.178+12C>T Single submitter
- c.178+13C>T Single submitter
- c.178+14C>G Single submitter
- c.178+17C>A Single submitter
- c.178+17C>T Single submitter
- c.178+18A>C Single submitter
- c.179-15C>G Single submitter
- c.179-20C>G Single submitter
- c.179-4G>C Single submitter
- c.179-7A>G Single submitter
- c.1859+13C>T Single submitter
- c.1859+19G>A Single submitter
- c.1859+9C>G Single submitter
- c.1860-15T>C Single submitter
- c.1860-16T>C Single submitter
- c.1860-16T>G Single submitter
- c.1860-18C>G Single submitter
- c.1860-9C>T Single submitter
- c.2032+15A>G Single submitter
- c.2032+19C>T Single submitter
- c.2032+20A>G Single submitter
- c.2033-14C>A Single submitter
- c.2033-14C>G Single submitter
- c.2033-15T>G Single submitter
- c.2033-4C>T Single submitter
- c.2033-8G>T Single submitter
- c.2163+10C>T Single submitter
- c.2163+15C>T Single submitter
- c.2163+7G>T Single submitter
- c.2164-12T>C Single submitter
- c.2164-19T>G Single submitter
- c.2164-5C>A Single submitter
- c.2164-5C>T Single submitter
- c.2287+16G>A Single submitter
- c.2287+18T>C Single submitter
- c.2287+7G>C Single submitter
- c.2288-11T>G Single submitter
- c.2288-15C>G Single submitter
- c.2288-20G>A Single submitter
- c.2288-7C>T Single submitter
- c.2532+12C>T Single submitter
- c.2532+14G>T Single submitter
- c.2532+18A>G Single submitter
- c.2532+20T>G Single submitter
- c.2533-10C>T Single submitter
- c.2533-11A>T Single submitter
- c.2533-14C>G Single submitter
- c.2533-16A>G Single submitter
- c.2533-6G>C Single submitter
- c.2533-7T>C Single submitter
- c.2533-9A>G Single submitter
- c.2674+7G>C Single submitter
- c.2675-15C>T Single submitter
- c.2801+10T>C Single submitter
- c.2801+11T>G Single submitter
- c.2801+16G>A Single submitter
- c.2801+18G>A Single submitter
- c.2801+20C>A Single submitter
- c.2801+8A>C Single submitter
- c.2802-15del Single submitter
- c.2802-17T>A Single submitter
- c.2802-5G>A Single submitter
- c.2802-8A>G Single submitter
- c.2802-9C>T Single submitter
- c.3006+15C>T Single submitter
- c.3006+19G>A Single submitter
- c.3007-13T>C Single submitter
- c.3007-14T>C Single submitter
- c.3007-16T>G Single submitter
- c.3007-17T>G Single submitter
- c.3007-18C>G Single submitter
- c.3007-18C>T Single submitter
- c.3007-4C>G Single submitter
- c.3007-6C>G Single submitter
- c.3007-6C>T Single submitter
- c.3189+13A>C Single submitter
- c.3189+14G>A Single submitter
- c.3189+16C>A Single submitter
- c.3189+19T>C Single submitter
- c.3189+20G>A Single submitter
- c.3190-10T>C Single submitter
- c.3190-11T>C Single submitter
- c.3190-14G>A Single submitter
- c.3190-19A>C Single submitter
- c.3190-19A>T Single submitter
- c.3190-20C>T Single submitter
- c.3402+13C>T Single submitter
- c.3402+14G>A Single submitter
- c.3402+16T>C Single submitter
- c.3402+20_3402+41del Single submitter
- c.3402+8C>G Single submitter
- c.3403-13C>G Single submitter
- c.3403-19C>G Single submitter
- c.3403-21_3403-20del Single submitter
- c.3403-7G>C Single submitter
- c.3403-9C>A Single submitter
- c.3403-9C>G Single submitter
- c.3550+14A>G Single submitter
- c.3550+17C>A Single submitter
- c.3550+9G>A Single submitter
- c.3550+9G>T Single submitter
- c.3551-17A>G Single submitter
- c.495+15G>A Single submitter
- c.495+20A>C Single submitter
- c.495+9A>G Single submitter
- c.496-8C>T Single submitter
- c.778+13A>T Single submitter
- c.778+15T>C Single submitter
- c.778+17T>C Single submitter
- c.778+18T>G Single submitter
- c.778+20C>G Single submitter
- c.779-11G>T Single submitter
- c.779-18C>G Single submitter
- c.779-18C>T Single submitter
- c.779-4G>A Single submitter
- c.779-5C>T Single submitter
- c.779-7A>G Single submitter
- c.90+10G>T Single submitter
- c.90+11C>T Single submitter
- c.90+13G>T Single submitter
- c.90+20G>A Single submitter
- c.90+8C>T Single submitter
- c.91-14C>G Single submitter
- c.91-18T>A Single submitter
- c.91-20T>C Single submitter
- c.91-7C>T Single submitter
- c.91-8T>C Single submitter
- c.972+11del Single submitter
- c.972+11G>T Single submitter
- c.972+18_972+22del Single submitter
- c.972+18A>G Single submitter
- c.972+7G>A Single submitter
- c.972+7G>C Single submitter
- c.972+7G>T Single submitter
- c.973-10G>T Single submitter
- c.973-13A>C Single submitter
- c.973-14C>T Single submitter
- c.973-15C>T Single submitter
- c.973-8T>C Single submitter
- p.Ala1022= Single submitter
- p.Ala1023= Single submitter
- p.Ala1023Thr Single submitter
- p.Ala103= Single submitter
- p.Ala1058= Single submitter
- p.Ala1066= Single submitter
- p.Ala116= Single submitter
- p.Ala14= Single submitter
- p.Ala186= Single submitter
- p.Ala195= Single submitter
- p.Ala23= Single submitter
- p.Ala31= Single submitter
- p.Ala361= Single submitter
- p.Ala386= Single submitter
- p.Ala43= Single submitter
- p.Ala431= Single submitter
- p.Ala45= Single submitter
- p.Ala47= Single submitter
- p.Ala491= Single submitter
- p.Ala501= Single submitter
- p.Ala529= Single submitter
- p.Ala594= Single submitter
- p.Ala72= Single submitter
- p.Ala8= Single submitter
- p.Ala833= Single submitter
- p.Ala855= Single submitter
- p.Ala898= Single submitter
- p.Ala915= Single submitter
- p.Ala928= Single submitter
- p.Ala969= Single submitter
- p.Ala985= Single submitter
- p.Arg100= Single submitter
- p.Arg1009= Single submitter
- p.Arg1014= Single submitter
- p.Arg1075= Single submitter
- p.Arg1095= Single submitter
- p.Arg1097Cys Single submitter ⚠
- p.Arg1155= Single submitter
- p.Arg1219= Single submitter
- p.Arg172= Single submitter
- p.Arg213= Single submitter
- p.Arg222= Single submitter
- p.Arg239= Single submitter
- p.Arg479= Single submitter
- p.Arg548= Single submitter
- p.Arg552= Single submitter
- p.Arg586= Single submitter
- p.Arg603= Single submitter
- p.Arg88= Single submitter
- p.Asn190= Single submitter
- p.Asn339= Single submitter
- p.Asn358Thr Single submitter ⚠
- p.Asn468= Single submitter
- p.Asn83= Single submitter
- p.Asn865= Single submitter
- p.Asn927= Single submitter
- p.Asp1190= Single submitter
- p.Asp130= Single submitter
- p.Asp152= Single submitter
- p.Asp331= Single submitter
- p.Asp49= Single submitter
- p.Asp518= Single submitter
- p.Asp70= Single submitter
- p.Asp717= Single submitter
- p.Asp79= Single submitter
- p.Cys1043= Single submitter
- p.Cys1150= Single submitter
- p.Cys1188= Single submitter
- p.Cys1204= Single submitter
- p.Cys1213= Single submitter
- p.Cys3= Single submitter
- p.Cys38= Single submitter
- p.Cys402= Single submitter
- p.Cys453= Single submitter
- p.Cys577= Single submitter
- p.Cys643= Single submitter
- p.Cys725= Single submitter
- p.Cys748= Single submitter
- p.Cys913= Single submitter
- p.Cys931= Single submitter
- p.Gln1212= Single submitter
- p.Gln141= Single submitter
- p.Gln187= Single submitter
- p.Gln350= Single submitter
- p.Gln370= Single submitter
- p.Gln480= Single submitter
- p.Gln500= Single submitter
- p.Gln503= Single submitter
- p.Gln520= Single submitter
- p.Gln622= Single submitter
- p.Gln654= Single submitter
- p.Gln780= Single submitter
- p.Gln822= Single submitter
- p.Gln952= Single submitter
- p.Gln982= Single submitter
- p.Gln994= Single submitter
- p.Glu1038= Single submitter
- p.Glu1041= Single submitter
- p.Glu1107= Single submitter
- p.Glu242= Single submitter
- p.Glu968Lys Single submitter ⚠
- p.Gly1010= Single submitter
- p.Gly1142= Single submitter
- p.Gly147= Single submitter
- p.Gly219= Single submitter
- p.Gly255= Single submitter
- p.Gly292Asp Single submitter
- p.Gly312= Single submitter
Uncertain significance 619
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala186Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala207Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala286Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala527Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala54Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala772Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala870Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala928Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1009Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1047Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg1113Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1146Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1155Trp Multiple submitters Leber congenital amaurosis ⚠
- p.Arg1170Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg213Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg215Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg246Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg247Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg247Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg257Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg548Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg603Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg603Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg633Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg664His Multiple submitters Inborn genetic diseases ⚠
- p.Asn190Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn190Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn358Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn379His Multiple submitters Inborn genetic diseases ⚠
- p.Asn639Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Asn690Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn826Ser Multiple submitters ⚠
- p.Asp1185Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp539Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp807Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln187Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln503Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln783Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln796Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln957His Multiple submitters Inborn genetic diseases ⚠
- p.Glu1081Lys Multiple submitters ⚠
- p.Glu209Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly1010Cys Multiple submitters
- p.Gly1140Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly196Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly53Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly56Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly581Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly84Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly938Asp Multiple submitters Inborn genetic diseases ⚠
- p.His231Pro Multiple submitters Inborn genetic diseases ⚠
- p.His234Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His547Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile1089Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile1089Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile634Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile880Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu1026Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu112Ile Multiple submitters Inborn genetic diseases ⚠
- p.Leu118Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu184Ile Multiple submitters Inborn genetic diseases ⚠
- p.Leu32Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu405Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu789Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu794Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu794Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu81Trp Multiple submitters Inborn genetic diseases ⚠
- p.Lys1074Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys137Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys308Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys509Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys683Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys924Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met864Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe1091Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Phe253Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe525Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro1131Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro114Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1167Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro1199Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro18Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro19Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro282Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro498Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro511Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro642Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro662Arg Multiple submitters microcornea-myopic chorioretinal atrophy ⚠
- p.Pro766Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro813His Multiple submitters Inborn genetic diseases ⚠
- p.Pro828Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro874Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro923His Multiple submitters Inborn genetic diseases ⚠
- p.Pro923Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro932Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro976Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro993Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ser228Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser596Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser74Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser89Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser996Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1090Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr241Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr840Met Multiple submitters microcornea-myopic chorioretinal atrophy ⚠
- p.Tyr658His Multiple submitters Inborn genetic diseases ⚠
- p.Val676Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val676Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val734Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val740Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val791Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val881Met Multiple submitters Inborn genetic diseases ⚠
- c.1216+4T>C Single submitter
- c.1216+5G>A Single submitter
- c.1217-4A>G Single submitter
- c.1460+3A>G Single submitter
- c.1614+4T>C Single submitter
- c.2032+5T>C Single submitter
- c.3007-7T>G Single submitter
- c.3402+4G>T Single submitter
- c.3403-8T>G Single submitter
- c.3550+1G>A Single submitter
- c.3550+3A>G Single submitter
- c.778+4T>G Single submitter
- c.90+3A>G Single submitter
- c.972+6C>T Single submitter
- c.973-11_973-10delinsAA Single submitter
- p.Ala1022Val Single submitter ⚠
- p.Ala10Thr Single submitter ⚠
- p.Ala10Val Single submitter ⚠
- p.Ala1171Asp Single submitter ⚠
- p.Ala1179fs Single submitter
- p.Ala1179Gly Single submitter Inborn genetic diseases ⚠
- p.Ala13Thr Single submitter ⚠
- p.Ala14Glu Single submitter Inborn genetic diseases ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala158Thr Single submitter ⚠
- p.Ala158Val Single submitter Inborn genetic diseases ⚠
- p.Ala195Thr Single submitter ⚠
- p.Ala195Val Single submitter ⚠
- p.Ala23Glu Single submitter ⚠
- p.Ala23Gly Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala261Thr Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Ala374Asp Single submitter Inborn genetic diseases ⚠
- p.Ala386Gly Single submitter ⚠
- p.Ala40Pro Single submitter ⚠
- p.Ala44Glu Single submitter Inborn genetic diseases ⚠
- p.Ala44Gly Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala491Val Single submitter Inborn genetic diseases ⚠
- p.Ala527Val Single submitter ⚠
- p.Ala529Thr Single submitter ⚠
- p.Ala54Thr Single submitter Inborn genetic diseases ⚠
- p.Ala560Thr Single submitter ⚠
- p.Ala594Pro Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Ala737Thr Single submitter Inborn genetic diseases ⚠
- p.Ala761Gly Single submitter ⚠
- p.Ala772Ser Single submitter Inborn genetic diseases ⚠
- p.Ala790Ser Single submitter Inborn genetic diseases ⚠
- p.Ala815Ser Single submitter ⚠
- p.Ala833Thr Single submitter ⚠
- p.Ala859Gly Single submitter ⚠
- p.Ala8Ser Single submitter Inborn genetic diseases ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala90Gly Single submitter Inborn genetic diseases ⚠
- p.Ala90Val Single submitter ⚠
- p.Ala915Thr Single submitter Inborn genetic diseases ⚠
- p.Ala933Pro Single submitter Inborn genetic diseases ⚠
- p.Ala93Thr Single submitter ⚠
- p.Ala985Pro Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg1095Lys Single submitter ⚠
- p.Arg1095Thr Single submitter ⚠
- p.Arg1097Pro Single submitter ⚠
- p.Arg1113Trp Single submitter ⚠
- p.Arg1155Gln Single submitter ⚠
- p.Arg1170Ter Single submitter
- p.Arg1219Lys Single submitter Inborn genetic diseases ⚠
- p.Arg172Gln Single submitter ⚠
- p.Arg172Leu Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg215Ser Single submitter ⚠
- p.Arg222Trp Single submitter ⚠
- p.Arg239Gly Single submitter Inborn genetic diseases ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg257His Single submitter ⚠
- p.Arg257Pro Single submitter ⚠
- p.Arg272_Phe273delinsIle Single submitter
- p.Arg272Ser Single submitter ⚠
- p.Arg283Lys Single submitter Inborn genetic diseases ⚠
- p.Arg284Ser Single submitter ⚠
- p.Arg479Cys Single submitter ⚠
- p.Arg479His Single submitter ⚠
- p.Arg479Leu Single submitter ⚠
- p.Arg552Ser Single submitter ⚠
- p.Arg573Trp Single submitter ⚠
- p.Arg586Gln Single submitter ⚠
- p.Arg586Leu Single submitter Inborn genetic diseases ⚠
- p.Arg603Gly Single submitter ⚠
- p.Arg633His Single submitter ⚠
- p.Arg633Leu Single submitter ⚠
- p.Arg651Trp Single submitter ⚠
- p.Arg681Pro Single submitter ⚠
- p.Arg775Gln Single submitter ⚠
- p.Arg792Gln Single submitter Inborn genetic diseases ⚠
- p.Arg823Cys Single submitter ⚠
- p.Arg823His Single submitter ⚠
- p.Arg827Cys Single submitter Inborn genetic diseases ⚠
- p.Arg827Leu Single submitter inherited retinal dystrophy ⚠
- p.Arg830His Single submitter ⚠
- p.Arg830Pro Single submitter ⚠
- p.Arg85Gly Single submitter ⚠
- p.Arg873Ile Single submitter Inborn genetic diseases ⚠
- p.Arg88Gln Single submitter ⚠
- p.Arg88Leu Single submitter ⚠
- p.Arg902Gln Single submitter ⚠
- p.Arg902Pro Single submitter ⚠
- p.Asn1098Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1111Asp Single submitter ⚠
- p.Asn1111Tyr Single submitter ⚠
- p.Asn1122Lys Single submitter ⚠
- p.Asn1122Ser Single submitter ⚠
- p.Asn1173Ile Single submitter Inborn genetic diseases ⚠
- p.Asn223Thr Single submitter Inborn genetic diseases ⚠
- p.Asn294Ile Single submitter Inborn genetic diseases ⚠
- p.Asn294Ser Single submitter ⚠
- p.Asn379Ser Single submitter ⚠
- p.Asn423Ile Single submitter ⚠
- p.Asn423Ser Single submitter ⚠
- p.Asn459Ser Single submitter ⚠
- p.Asn468Ser Single submitter Inborn genetic diseases ⚠
- p.Asn469Ser Single submitter Inborn genetic diseases ⚠
- p.Asn617Ser Single submitter ⚠
- p.Asn712Ser Single submitter ⚠
- p.Asn757= Single submitter
- p.Asn838Asp Single submitter ⚠
- p.Asn838Ile Single submitter Inborn genetic diseases ⚠
- p.Asn865His Single submitter ⚠
- p.Asn905Ser Single submitter ⚠
- p.Asn909Ser Single submitter ⚠
- p.Asn92Asp Single submitter ⚠
- p.Asp1105Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp1105Val Single submitter Inborn genetic diseases ⚠
- p.Asp1185Asn Single submitter Inborn genetic diseases ⚠
- p.Asp130Gly Single submitter Inborn genetic diseases ⚠
- p.Asp130Val Single submitter ⚠
- p.Asp152Gly Single submitter ⚠
- p.Asp268Val Single submitter ⚠
- p.Asp274Gly Single submitter ⚠
- p.Asp331His Single submitter ⚠
- p.Asp447Asn Single submitter Inborn genetic diseases ⚠
- p.Asp516Glu Single submitter ⚠
- p.Asp518His Single submitter ⚠
- p.Asp539Asn Single submitter ⚠
- p.Asp60Asn Single submitter ⚠
- p.Asp649Val Single submitter Inborn genetic diseases ⚠
- p.Asp680Tyr Single submitter ⚠
- p.Asp713Val Single submitter ⚠
- p.Asp79del Single submitter
- p.Asp807Ala Single submitter Inborn genetic diseases ⚠
- p.Asp807Glu Single submitter ⚠
- p.Asp903Gly Single submitter ⚠
- p.Cys1018Trp Single submitter Inborn genetic diseases ⚠
- p.Cys1031Tyr Single submitter ⚠
- p.Cys1188Ser Single submitter ⚠
- p.Cys1195Tyr Single submitter ⚠
- p.Cys38Tyr Single submitter ⚠
- p.Cys39Ser Single submitter ⚠
- p.Cys39Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys3Tyr Single submitter ⚠
- p.Cys453Arg Single submitter ⚠
- p.Cys553Tyr Single submitter ⚠
- p.Cys572Ser Single submitter Inborn genetic diseases ⚠
- p.Cys577Trp Single submitter microcornea-myopic chorioretinal atrophy ⚠
- p.Cys577Tyr Single submitter ⚠
- p.Cys601Arg Single submitter Inborn genetic diseases ⚠
- p.Cys605Ser Single submitter ⚠
- p.Cys900Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys913Ser Single submitter ⚠
- p.Cys991Tyr Single submitter ⚠
- p.Cys9Arg Single submitter
- p.Gln1055Pro Single submitter ⚠
- p.Gln106Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1085Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1134= Single submitter
- p.Gln1144Glu Single submitter ⚠
- p.Gln1153Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1212Ter Single submitter
- p.Gln136Glu Single submitter ⚠
- p.Gln136Pro Single submitter ⚠
- p.Gln183His Single submitter ⚠
- p.Gln187Leu Single submitter ⚠
- p.Gln237Pro Single submitter ⚠
- p.Gln290Lys Single submitter ⚠
- p.Gln350Arg Single submitter ⚠
- p.Gln350Glu Single submitter ⚠