Sugi Variant

Sugi Variant/ACD

ACD — 1175 ClinVar variants

All ClinVar germline ACD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 526 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 22 Conflicting · 8 Benign · 4 Benign/Likely benign · 447 Likely benign · 689 Uncertain significance

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

⚑ Evidence disagreements 526

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 11

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

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

Predictors split 183

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 183

All ACD variants

Pathogenic 2

  • p.Glu83del Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Lys84del Single submitter dyskeratosis congenita, autosomal dominant 6

Likely pathogenic 3

  • c.493+1G>T Single submitter
  • p.Arg6fs Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Thr51fs Single submitter dyskeratosis congenita, autosomal dominant 6

Conflicting classifications of pathogenicity 22

  • c.337-6C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+7T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-29C>G Single submitter Inborn genetic diseases
  • c.-5T>C Single submitter Inborn genetic diseases
  • c.-9G>C Single submitter Inborn genetic diseases
  • c.*4G>A Single submitter
  • p.Ala267Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg14= Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Arg176Gln Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg335His Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg383Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg383Trp Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg428Gln Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg433= Single submitter Inborn genetic diseases
  • p.Arg6Ser Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gly283Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly390Arg Single submitter Inborn genetic diseases ⚠
  • p.His206Pro Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.His47Arg Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro23Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser338Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr205Ala Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠

Benign 8

  • c.1207-10C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.1298+20C>A Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.413+3A>G Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.494-20C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.*32T>A Multiple submitters
  • p.Val432Ala Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.493+49T>A Single submitter
  • c.743-3dup Single submitter dyskeratosis congenita, autosomal dominant 6

Benign/Likely benign 4

  • c.99+18G>A Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Arg27Gln Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Gly308Glu Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Pro273= Multiple submitters Inborn genetic diseases

Likely benign 447

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1206+13C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.243-13C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.414-17C>G Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.458+20C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.459-27T>C Multiple submitters
  • c.830-11C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.830-12C>A Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.830-5C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.99+20C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-13T>G Multiple submitters Inborn genetic diseases
  • c.-18C>T Multiple submitters Inborn genetic diseases
  • c.-19G>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-1G>C Multiple submitters Inborn genetic diseases
  • c.-31C>A Multiple submitters Inborn genetic diseases
  • c.-34G>C Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-37C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-7C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ala189= Multiple submitters Inborn genetic diseases
  • p.Ala2= Multiple submitters Inborn genetic diseases
  • p.Ala214= Multiple submitters Inborn genetic diseases
  • p.Ala38= Multiple submitters Inborn genetic diseases
  • p.Ala440= Multiple submitters Inborn genetic diseases
  • p.Ala449= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ala48= Multiple submitters Inborn genetic diseases
  • p.Arg10= Multiple submitters Inborn genetic diseases
  • p.Arg132= Multiple submitters Inborn genetic diseases
  • p.Arg329= Multiple submitters Inborn genetic diseases
  • p.Arg364= Multiple submitters Inborn genetic diseases
  • p.Arg6= Multiple submitters Inborn genetic diseases
  • p.Asn232= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Asp255= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Asp50= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Asp53= Multiple submitters Inborn genetic diseases
  • p.Asp62= Multiple submitters Inborn genetic diseases
  • p.Cys101= Multiple submitters Inborn genetic diseases
  • p.Cys344= Multiple submitters Inborn genetic diseases
  • p.Cys69= Multiple submitters Inborn genetic diseases
  • p.Gln342= Multiple submitters Inborn genetic diseases
  • p.Glu21= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Glu231= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Glu85= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Gly165= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Gly29= Multiple submitters Inborn genetic diseases
  • p.Gly308= Multiple submitters Inborn genetic diseases
  • p.Gly452= Multiple submitters Inborn genetic diseases
  • p.Gly5= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Gly87= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Gly90= Multiple submitters Inborn genetic diseases
  • p.His155= Multiple submitters Inborn genetic diseases
  • p.His332= Multiple submitters Inborn genetic diseases
  • p.His358= Multiple submitters Inborn genetic diseases
  • p.His408= Multiple submitters Inborn genetic diseases
  • p.His444= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ile229= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Leu171= Multiple submitters Inborn genetic diseases
  • p.Leu185= Multiple submitters Inborn genetic diseases
  • p.Leu193= Multiple submitters Inborn genetic diseases
  • p.Leu261= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Leu263= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Leu297= Multiple submitters Inborn genetic diseases
  • p.Leu370= Multiple submitters Inborn genetic diseases
  • p.Leu438= Multiple submitters Inborn genetic diseases
  • p.Leu58= Multiple submitters Inborn genetic diseases
  • p.Leu97= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Lys373= Multiple submitters Inborn genetic diseases
  • p.Phe386= Multiple submitters Inborn genetic diseases
  • p.Pro203= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Pro252= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Pro253= Multiple submitters Inborn genetic diseases
  • p.Pro256= Multiple submitters Inborn genetic diseases
  • p.Pro279= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Pro282= Multiple submitters Inborn genetic diseases
  • p.Pro346= Multiple submitters Inborn genetic diseases
  • p.Pro379= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Pro384= Multiple submitters Inborn genetic diseases
  • p.Pro436= Multiple submitters Inborn genetic diseases
  • p.Pro457= Multiple submitters Inborn genetic diseases
  • p.Ser161= Multiple submitters Inborn genetic diseases
  • p.Ser162= Multiple submitters Inborn genetic diseases
  • p.Ser271= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ser275= Multiple submitters Inborn genetic diseases
  • p.Ser287= Multiple submitters Inborn genetic diseases
  • p.Ser290= Multiple submitters Inborn genetic diseases
  • p.Ser293= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ser301= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ser334= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ser339= Multiple submitters Inborn genetic diseases
  • p.Ser352= Multiple submitters Inborn genetic diseases
  • p.Ser66= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Thr221= Multiple submitters Inborn genetic diseases
  • p.Thr325= Multiple submitters Inborn genetic diseases
  • p.Thr327= Multiple submitters Inborn genetic diseases
  • p.Thr345= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Thr389= Multiple submitters Inborn genetic diseases
  • p.Thr423= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Val135= Multiple submitters Inborn genetic diseases
  • p.Val186= Multiple submitters Inborn genetic diseases
  • p.Val204= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Val54= Multiple submitters Inborn genetic diseases
  • p.Val67= Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.100-12C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-15G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-15G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-15G>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-16C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-19C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-29G>A Single submitter
  • c.100-6C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-9C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1206+10del Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1206+10G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1206+15T>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1206+18G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1206+8T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1207-18A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1207-29C>G Single submitter
  • c.1207-8C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1298+17G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1298+9C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1299-14T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1299-16G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1299-17C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1299-19A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1299-28T>C Single submitter
  • c.1299-4C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.242+13dup Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.242+19C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.242+7G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.242+8G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.242+9C>A Single submitter
  • c.243-14C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.243-14C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.243-41T>C Single submitter
  • c.243-48G>A Single submitter
  • c.243-5T>C Single submitter
  • c.243-6T>C Single submitter
  • c.336+8G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.336+8G>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-10A>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-12G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-14C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-14C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-16C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-17C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-18C>T Single submitter
  • c.337-20T>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.337-21dup Single submitter
  • c.337-22C>A Single submitter
  • c.337-35T>C Single submitter
  • c.337-42G>C Single submitter
  • c.337-5_337-3del Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.413+11C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.413+17C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.413+7G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.413+8A>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.413+9T>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.413+9T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.414-11C>T Single submitter
  • c.414-16C>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.414-20T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.414-45dup Single submitter
  • c.414-5C>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.414-5C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.414-7T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.414-8T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.414-9T>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.458+35G>A Single submitter
  • c.459-12C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.459-14C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.459-16C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.459-18G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.459-35A>C Single submitter
  • c.459-4G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.459-4G>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.459-5T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.459-6C>G Single submitter
  • c.493+10A>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+10A>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+12_493+21del Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+16A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+19A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+7T>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+9G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.494-10_494-9del Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.494-11C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.494-19C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.494-23A>C Single submitter
  • c.494-4C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.645+16T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.645+16T>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.645+17G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.645+7C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.646-11A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.646-32C>T Single submitter
  • c.646-38_646-37del Single submitter
  • c.646-5C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.646-6C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.742+16G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.742+8G>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.743-13C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.743-14C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.743-17C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.743-39C>T Single submitter
  • c.743-4C>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.743-6C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.743-7C>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.829+10T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.829+11G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.829+16G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.829+35C>T Single submitter
  • c.829+85G>A Single submitter
  • c.830-12C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.830-13C>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.830-14C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.830-39G>A Single submitter
  • c.830-8dup Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.830-9C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.99+15_99+20del Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.99+19C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.99+24A>G Single submitter
  • c.99+9C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-16G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-19G>A Single submitter Inborn genetic diseases
  • c.-21C>T Single submitter Inborn genetic diseases
  • c.-27T>C Single submitter Inborn genetic diseases
  • c.-28G>T Single submitter Inborn genetic diseases
  • c.-31C>G Single submitter Inborn genetic diseases
  • c.-31C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-34G>A Single submitter Inborn genetic diseases
  • c.-4G>A Single submitter Inborn genetic diseases
  • c.-7C>G Single submitter Inborn genetic diseases
  • c.*40C>T Single submitter
  • c.*43T>C Single submitter
  • p.Ala10= Single submitter Inborn genetic diseases
  • p.Ala108= Single submitter Inborn genetic diseases
  • p.Ala184= Single submitter Inborn genetic diseases
  • p.Ala20= Single submitter Inborn genetic diseases
  • p.Ala209= Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Ala267= Single submitter Inborn genetic diseases
  • p.Ala28= Single submitter Inborn genetic diseases
  • p.Ala299= Single submitter Inborn genetic diseases
  • p.Ala322= Single submitter Inborn genetic diseases
  • p.Ala35= Single submitter Inborn genetic diseases
  • p.Ala360= Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Ala395= Single submitter Inborn genetic diseases
  • p.Ala41= Single submitter Inborn genetic diseases
  • p.Ala413= Single submitter Inborn genetic diseases
  • p.Ala42= Single submitter Inborn genetic diseases
  • p.Ala427= Single submitter Inborn genetic diseases
  • p.Ala43= Single submitter Inborn genetic diseases
  • p.Ala431= Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Ala56= Single submitter Inborn genetic diseases
  • p.Ala57= Single submitter Inborn genetic diseases
  • p.Ala68= Single submitter Inborn genetic diseases
  • p.Ala72= Single submitter Inborn genetic diseases
  • p.Ala75= Single submitter Inborn genetic diseases
  • p.Ala9= Single submitter Inborn genetic diseases
  • p.Arg27= Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Arg310= Single submitter Inborn genetic diseases
  • p.Arg329Ser Single submitter Inborn genetic diseases
  • p.Arg39= Single submitter Inborn genetic diseases
  • p.Arg39Pro Single submitter Inborn genetic diseases
  • p.Arg428= Single submitter Inborn genetic diseases
  • p.Arg43= Single submitter Inborn genetic diseases
  • p.Arg53= Single submitter Inborn genetic diseases
  • p.Arg64= Single submitter Inborn genetic diseases
  • p.Arg89= Single submitter Inborn genetic diseases
  • p.Asn139= Single submitter Inborn genetic diseases
  • p.Asp100= Single submitter Inborn genetic diseases
  • p.Asp121= Single submitter Inborn genetic diseases
  • p.Asp150= Single submitter Inborn genetic diseases
  • p.Asp178= Single submitter Inborn genetic diseases
  • p.Asp233= Single submitter Inborn genetic diseases
  • p.Asp260= Single submitter Inborn genetic diseases
  • p.Asp448= Single submitter Inborn genetic diseases
  • p.Asp77Asn Single submitter Inborn genetic diseases
  • p.Cys151= Single submitter Inborn genetic diseases
  • p.Cys187= Single submitter Inborn genetic diseases
  • p.Cys187Arg Single submitter Inborn genetic diseases
  • p.Cys192= Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Cys228= Single submitter Inborn genetic diseases
  • p.Cys320= Single submitter
  • p.Cys399= Single submitter Inborn genetic diseases
  • p.Gln106= Single submitter Inborn genetic diseases
  • p.Gln170= Single submitter Inborn genetic diseases
  • p.Gln259= Single submitter Inborn genetic diseases
  • p.Gln30= Single submitter Inborn genetic diseases
  • p.Gln359= Single submitter Inborn genetic diseases
  • p.Glu15= Single submitter Inborn genetic diseases
  • p.Glu153= Single submitter Inborn genetic diseases
  • p.Glu158= Single submitter Inborn genetic diseases
  • p.Glu177= Single submitter Inborn genetic diseases
  • p.Glu190= Single submitter Inborn genetic diseases
  • p.Glu196= Single submitter Inborn genetic diseases
  • p.Glu288= Single submitter Inborn genetic diseases
  • p.Glu374= Single submitter Inborn genetic diseases
  • p.Glu39= Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Glu403= Single submitter Inborn genetic diseases
  • p.Glu419= Single submitter Inborn genetic diseases
  • p.Glu59= Single submitter Inborn genetic diseases

Uncertain significance 689

Showing the top 300 by review status; the full set is in the sitemap.

  • c.645+2T>C Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.71_72delGGinsCC Multiple submitters Inborn genetic diseases
  • c.99+5G>A Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-20C>T Multiple submitters Inborn genetic diseases
  • c.-24C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-26T>G Multiple submitters Inborn genetic diseases
  • c.-29C>A Multiple submitters Inborn genetic diseases
  • c.-29C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-30C>T Multiple submitters Inborn genetic diseases
  • c.-35C>T Multiple submitters Inborn genetic diseases
  • c.-36C>G Multiple submitters Inborn genetic diseases
  • c.-36C>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-38A>T Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-6G>A Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-8C>G Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-9G>A Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • c.-9G>T Multiple submitters Inborn genetic diseases
  • p.Ala114Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala201Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala209Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala20Thr Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ala218Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala280Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala304Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala333Asp Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala333Thr Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala360Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala360Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala40Val Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Ala413Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala413Thr Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala427Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala431Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala43Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala48Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg10Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg122Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg176Leu Multiple submitters ACD-related disorder ⚠
  • p.Arg176Trp Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg211Ter Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Arg245Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg245Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg335Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg351His Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg393Lys Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg409Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg409His Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg428Trp Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg68Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg89Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Asn163Ser Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Asp121His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp143Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp150Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp37Asn Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Asp448Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys151Phe Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Cys212Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys228Tyr Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Cys243Arg Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Cys69Ser Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gln106Ter Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Gln140Glu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gln179Arg Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gln247His Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gln247Lys Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gln342Arg Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gln359His Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gln36Arg Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Glu109Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Glu15Gln Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Glu196Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu288Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu288Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu371Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly197Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly29Arg Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Gly390Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly394Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly411Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly55Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.His155Leu Multiple submitters Inborn genetic diseases ⚠
  • p.His358Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His47Asp Multiple submitters Inborn genetic diseases ⚠
  • p.His65Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile236Phe Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Leu118Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Leu16Met Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Leu240Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu251Val Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Leu258Pro Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Leu261Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu265Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu59Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Lys406Arg Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Met226Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met285Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met439Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe375Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe445Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro11Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro136Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro202His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro203Ala Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro203fs Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Pro203Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro203Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro23Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro242Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro252Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro253Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro253Ser Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro256Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro270Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro273_Ser276del Multiple submitters dyskeratosis congenita, autosomal dominant 6
  • p.Pro279Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro282Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro315His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro317Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro337Ser Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro340Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro340Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro355Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro384Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro404His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro404Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro405Thr Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro420Arg Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro420Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro436Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro455fs Multiple submitters Inborn genetic diseases
  • p.Pro457Ala Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Pro49Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser161Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser161Thr Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser230Phe Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser230Tyr Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser24Phe Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser271Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser274Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser274Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser286Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser290Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser295Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser301Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser301Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser311Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser321Leu Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser321Thr Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser400Cys Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ser453Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser46Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr128Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr194Ile Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Thr200Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr221Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr264Ile Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Thr278Ile Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Thr325Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr325Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr327Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr363Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr423Met Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Thr57Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr78Asn Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Trp402Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr117Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr117Phe Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Tyr149Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr416Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val144Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val401Ile Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Val42Ile Multiple submitters dyskeratosis congenita, autosomal dominant 6 ⚠
  • c.100-1G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-6C>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.100-7C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1206+1G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1206+4A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1207-5T>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.1298+1G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.242+1G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.242+5G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.243-1G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.243-3C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.243-3C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.336+12G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.336+1G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.413+1G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.458+9G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+3A>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+6dup Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.493+6G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.494-11C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.494-3C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.494-5C>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.645+10G>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.645+4A>C Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.646-20A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.646-3C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.742+4A>G Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.742+4del Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.743-3C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.830-11CTC[2] Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.830-1G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.830-2A>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.99+3G>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-12G>A Single submitter Inborn genetic diseases
  • c.-14G>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-17T>A Single submitter Inborn genetic diseases
  • c.-22T>A Single submitter Inborn genetic diseases
  • c.-23A>G Single submitter Inborn genetic diseases
  • c.-23A>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-27T>A Single submitter Inborn genetic diseases
  • c.-30C>A Single submitter Inborn genetic diseases
  • c.-30C>G Single submitter Inborn genetic diseases
  • c.-32G>A Single submitter Inborn genetic diseases
  • c.-32G>C Single submitter Inborn genetic diseases
  • c.-36C>A Single submitter dyskeratosis congenita, autosomal dominant 6
  • c.-37C>G Single submitter
  • c.-38A>G Single submitter Inborn genetic diseases
  • c.-39A>C Single submitter Inborn genetic diseases
  • c.-3G>A Single submitter Inborn genetic diseases
  • c.-5T>G Single submitter Inborn genetic diseases
  • c.-8C>T Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Ala108Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala108Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala10Thr Single submitter Inborn genetic diseases
  • p.Ala112= Single submitter
  • p.Ala112Thr Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala114Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala114Thr Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala114Val Single submitter Inborn genetic diseases ⚠
  • p.Ala164Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala17Val Single submitter Inborn genetic diseases
  • p.Ala184fs Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Ala184Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala184Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala184Val Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala208Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala208Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala209Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala20Gly Single submitter Inborn genetic diseases
  • p.Ala20Val Single submitter Inborn genetic diseases
  • p.Ala214fs Single submitter
  • p.Ala214Val Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala257Val Single submitter Inborn genetic diseases ⚠
  • p.Ala267Val Single submitter Inborn genetic diseases ⚠
  • p.Ala28Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala2Pro Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala303Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala304Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala318Gly Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala322Thr Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala322Val Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala324Asp Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala333Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala35Pro Single submitter Inborn genetic diseases
  • p.Ala38Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala391Val Single submitter Inborn genetic diseases ⚠
  • p.Ala395Val Single submitter ⚠
  • p.Ala413Val Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala41Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala42Pro Single submitter Inborn genetic diseases
  • p.Ala431Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala43Val Single submitter Inborn genetic diseases ⚠
  • p.Ala440Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala440Val Single submitter Inborn genetic diseases ⚠
  • p.Ala442Ser Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Ala449Val Single submitter Inborn genetic diseases ⚠
  • p.Ala56Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala57Gly Single submitter Inborn genetic diseases
  • p.Ala57Pro Single submitter Inborn genetic diseases
  • p.Ala57Ser Single submitter Inborn genetic diseases
  • p.Ala68Val Single submitter Inborn genetic diseases
  • p.Ala70Gly Single submitter Inborn genetic diseases
  • p.Ala72Val Single submitter Inborn genetic diseases
  • p.Ala75Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg10Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg122Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg134Gln Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg134Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg14Pro Single submitter ⚠
  • p.Arg19Ser Single submitter Inborn genetic diseases
  • p.Arg211Gln Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg245Thr Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg329Met Single submitter Inborn genetic diseases ⚠
  • p.Arg34Gln Single submitter Inborn genetic diseases
  • p.Arg351Cys Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg364Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg364Thr Single submitter ⚠
  • p.Arg37His Single submitter Inborn genetic diseases
  • p.Arg383Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg393fs Single submitter dyskeratosis congenita, autosomal dominant 6
  • p.Arg39Gly Single submitter Inborn genetic diseases
  • p.Arg39Leu Single submitter Inborn genetic diseases
  • p.Arg407Gly Single submitter dyskeratosis congenita, autosomal dominant 6 ⚠
  • p.Arg428Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg433Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg433Trp Single submitter Inborn genetic diseases ⚠