RECQL — 1788 ClinVar variants
All ClinVar germline RECQL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 970 flagged for review →
8 Likely pathogenic · 60 Conflicting · 59 Benign · 21 Benign/Likely benign · 444 Likely benign · 1196 Uncertain significance
Full RECQL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 970
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 29
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RECQL p.Ala248Thr
Conflicting
Single submitter
RECON progeroid syndrome
- RECQL p.Ala483Glu Conflicting Single submitter
- RECQL p.Ala67Ser Conflicting Single submitter
- RECQL p.Arg215Leu Conflicting Single submitter
- RECQL p.Asn577Thr Conflicting Single submitter
- RECQL p.Asn581Ser Conflicting Single submitter
- RECQL p.Asn619Ile Conflicting Single submitter
- RECQL p.Asp54Asn Conflicting Single submitter
-
RECQL p.Cys270Tyr
Conflicting
Single submitter
RECQL-related disorder
-
RECQL p.Cys321Tyr
Conflicting
Single submitter
RECQL-related disorder
- RECQL p.Cys414Tyr Conflicting Single submitter
- RECQL p.Gln553His Conflicting Single submitter
- RECQL p.Glu183Lys Conflicting Single submitter
-
RECQL p.Ile156Met
Conflicting
Single submitter
Hereditary cancer
-
RECQL p.Ile489Val
Conflicting
Single submitter
Hereditary cancer
- RECQL p.Ile551Val Conflicting Single submitter
- RECQL p.Lys544Met Conflicting Single submitter
- RECQL p.Met458Ile Conflicting Single submitter
- RECQL p.Ser560Asn Conflicting Single submitter
-
RECQL p.Ser602Leu
Conflicting
Single submitter
RECON progeroid syndrome
-
RECQL p.Thr134Ile
Conflicting
Single submitter
Hereditary cancer
-
RECQL p.Thr29Met
Conflicting
Single submitter
RECQL-related disorder
- RECQL p.Thr536Ile Conflicting Single submitter
- RECQL p.Tyr554Cys Conflicting Single submitter
- RECQL p.Val109Ile Conflicting Single submitter
-
RECQL p.Val136Ile
Conflicting
Single submitter
Hereditary cancer
-
RECQL p.Val173Asp
Conflicting
Single submitter
RECQL-related disorder
-
RECQL p.Val4Ile
Conflicting
Single submitter
RECON progeroid syndrome
- RECQL p.Val86Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 773
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 773
- RECQL p.Ala195Ser Uncertain significance Multiple submitters
- RECQL p.Ala210Glu Uncertain significance Multiple submitters
- RECQL p.Ala2Thr Uncertain significance Multiple submitters
- RECQL p.Ala2Val Uncertain significance Multiple submitters
- RECQL p.Ala346Thr Uncertain significance Multiple submitters
-
RECQL p.Ala459Ser
Uncertain significance
Multiple submitters
Short stature
- RECQL p.Ala525Gly Uncertain significance Multiple submitters
- RECQL p.Ala530Thr Uncertain significance Multiple submitters
- RECQL p.Ala547Val Uncertain significance Multiple submitters
- RECQL p.Ala57Pro Uncertain significance Multiple submitters
- RECQL p.Ala583Val Uncertain significance Multiple submitters
- RECQL p.Ala641Val Uncertain significance Multiple submitters
- RECQL p.Ala67Thr Uncertain significance Multiple submitters
- RECQL p.Arg203Lys Uncertain significance Multiple submitters
- RECQL p.Arg232Gly Uncertain significance Multiple submitters
- RECQL p.Arg232Thr Uncertain significance Multiple submitters
- RECQL p.Arg243Gln Uncertain significance Multiple submitters
- RECQL p.Arg31Lys Uncertain significance Multiple submitters
- RECQL p.Arg384Gly Uncertain significance Multiple submitters
- RECQL p.Arg404Cys Uncertain significance Multiple submitters
- RECQL p.Arg404His Uncertain significance Multiple submitters
- RECQL p.Arg407Gln Uncertain significance Multiple submitters
- RECQL p.Arg454Cys Uncertain significance Multiple submitters
-
RECQL p.Arg454His
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
- RECQL p.Arg455Cys Uncertain significance Multiple submitters
- RECQL p.Arg455Pro Uncertain significance Multiple submitters
- RECQL p.Arg455Ser Uncertain significance Multiple submitters
- RECQL p.Arg539Cys Uncertain significance Multiple submitters
- RECQL p.Arg539Pro Uncertain significance Multiple submitters
-
RECQL p.Arg599Gly
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Arg644Ile Uncertain significance Multiple submitters
- RECQL p.Asn162Ile Uncertain significance Multiple submitters
- RECQL p.Asn285Ser Uncertain significance Multiple submitters
- RECQL p.Asn296Ser Uncertain significance Multiple submitters
- RECQL p.Asn309Ser Uncertain significance Multiple submitters
- RECQL p.Asn347Ser Uncertain significance Multiple submitters
- RECQL p.Asn434Tyr Uncertain significance Multiple submitters
- RECQL p.Asn507Lys Uncertain significance Multiple submitters
- RECQL p.Asn577His Uncertain significance Multiple submitters
-
RECQL p.Asn581Asp
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Asn581Lys Uncertain significance Multiple submitters
- RECQL p.Asn619His Uncertain significance Multiple submitters
-
RECQL p.Asn622Thr
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Asn69Lys Uncertain significance Multiple submitters
- RECQL p.Asp12Ala Uncertain significance Multiple submitters
- RECQL p.Asp12Glu Uncertain significance Multiple submitters
- RECQL p.Asp234Gly Uncertain significance Multiple submitters
- RECQL p.Asp352Gly Uncertain significance Multiple submitters
- RECQL p.Asp379Gly Uncertain significance Multiple submitters
- RECQL p.Asp382Gly Uncertain significance Multiple submitters
- RECQL p.Asp422Val Uncertain significance Multiple submitters
- RECQL p.Asp481Val Uncertain significance Multiple submitters
- RECQL p.Asp52Glu Uncertain significance Multiple submitters
- RECQL p.Asp541His Uncertain significance Multiple submitters
- RECQL p.Asp54His Uncertain significance Multiple submitters
- RECQL p.Asp558Glu Uncertain significance Multiple submitters
-
RECQL p.Asp647Asn
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Cys122Trp Uncertain significance Multiple submitters
- RECQL p.Cys122Tyr Uncertain significance Multiple submitters
- RECQL p.Cys224Tyr Uncertain significance Multiple submitters
- RECQL p.Cys274Tyr Uncertain significance Multiple submitters
- RECQL p.Cys414Arg Uncertain significance Multiple submitters
-
RECQL p.Cys447Arg
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
- RECQL p.Cys49Arg Uncertain significance Multiple submitters
- RECQL p.Gln226His Uncertain significance Multiple submitters
- RECQL p.Gln335His Uncertain significance Multiple submitters
- RECQL p.Gln48Arg Uncertain significance Multiple submitters
- RECQL p.Gln552Glu Uncertain significance Multiple submitters
-
RECQL p.Gln552His
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Gln589Glu Uncertain significance Multiple submitters
-
RECQL p.Gln595Arg
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Gln610Lys Uncertain significance Multiple submitters
- RECQL p.Glu176Gln Uncertain significance Multiple submitters
-
RECQL p.Glu183Ala
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Glu205Asp Uncertain significance Multiple submitters
- RECQL p.Glu205Gln Uncertain significance Multiple submitters
- RECQL p.Glu205Lys Uncertain significance Multiple submitters
- RECQL p.Glu401Gly Uncertain significance Multiple submitters
- RECQL p.Glu469Gly Uncertain significance Multiple submitters
- RECQL p.Glu51Gly Uncertain significance Multiple submitters
- RECQL p.Glu540Gln Uncertain significance Multiple submitters
- RECQL p.Glu543Asp Uncertain significance Multiple submitters
- RECQL p.Glu609Asp Uncertain significance Multiple submitters
- RECQL p.Glu617Lys Uncertain significance Multiple submitters
- RECQL p.Glu71Lys Uncertain significance Multiple submitters
- RECQL p.Glu9Asp Uncertain significance Multiple submitters
- RECQL p.Gly117Ser Uncertain significance Multiple submitters
- RECQL p.Gly132Arg Uncertain significance Multiple submitters
- RECQL p.Gly342Ala Uncertain significance Multiple submitters
- RECQL p.Gly375Ala Uncertain significance Multiple submitters
- RECQL p.Gly377Arg Uncertain significance Multiple submitters
- RECQL p.Gly419Ser Uncertain significance Multiple submitters
- RECQL p.Gly436Glu Uncertain significance Multiple submitters
- RECQL p.Gly523Val Uncertain significance Multiple submitters
-
RECQL p.Gly56Arg
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Gly611Arg Uncertain significance Multiple submitters
- RECQL p.Gly621Arg Uncertain significance Multiple submitters
- RECQL p.His229Arg Uncertain significance Multiple submitters
- RECQL p.His260Gln Uncertain significance Multiple submitters
-
RECQL p.His260Pro
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.His345Leu Uncertain significance Multiple submitters
- RECQL p.His548Tyr Uncertain significance Multiple submitters
- RECQL p.His584Gln Uncertain significance Multiple submitters
- RECQL p.Ile141Thr Uncertain significance Multiple submitters
- RECQL p.Ile194Thr Uncertain significance Multiple submitters
- RECQL p.Ile240Val Uncertain significance Multiple submitters
- RECQL p.Ile308Thr Uncertain significance Multiple submitters
- RECQL p.Ile339Thr Uncertain significance Multiple submitters
- RECQL p.Ile387Asn Uncertain significance Multiple submitters
- RECQL p.Ile426Val Uncertain significance Multiple submitters
- RECQL p.Ile46Val Uncertain significance Multiple submitters
- RECQL p.Ile497Met Uncertain significance Multiple submitters
- RECQL p.Ile516Met Uncertain significance Multiple submitters
-
RECQL p.Ile545Phe
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Ile546Thr Uncertain significance Multiple submitters
- RECQL p.Ile82Thr Uncertain significance Multiple submitters
- RECQL p.Leu204Gln Uncertain significance Multiple submitters
- RECQL p.Leu204Ile Uncertain significance Multiple submitters
- RECQL p.Leu307Val Uncertain significance Multiple submitters
- RECQL p.Leu416Val Uncertain significance Multiple submitters
- RECQL p.Leu506Val Uncertain significance Multiple submitters
- RECQL p.Leu50Ser Uncertain significance Multiple submitters
- RECQL p.Leu515Arg Uncertain significance Multiple submitters
- RECQL p.Leu515Pro Uncertain significance Multiple submitters
-
RECQL p.Leu550Gln
Uncertain significance
Multiple submitters
RECQL-related disorder
- RECQL p.Leu550Pro Uncertain significance Multiple submitters
- RECQL p.Leu95Phe Uncertain significance Multiple submitters
- RECQL p.Leu95Val Uncertain significance Multiple submitters
- RECQL p.Lys107Arg Uncertain significance Multiple submitters
-
RECQL p.Lys107Asn
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Lys236Glu Uncertain significance Multiple submitters
- RECQL p.Lys325Glu Uncertain significance Multiple submitters
- RECQL p.Lys353Glu Uncertain significance Multiple submitters
- RECQL p.Lys39Gln Uncertain significance Multiple submitters
- RECQL p.Lys40Glu Uncertain significance Multiple submitters
- RECQL p.Lys544Thr Uncertain significance Multiple submitters
- RECQL p.Lys613Arg Uncertain significance Multiple submitters
- RECQL p.Lys625Arg Uncertain significance Multiple submitters
- RECQL p.Lys626Arg Uncertain significance Multiple submitters
- RECQL p.Lys626Glu Uncertain significance Multiple submitters
- RECQL p.Met113Thr Uncertain significance Multiple submitters
-
RECQL p.Met144Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
- RECQL p.Met144Val Uncertain significance Multiple submitters
- RECQL p.Met160Ile Uncertain significance Multiple submitters
- RECQL p.Met199Ile Uncertain significance Multiple submitters
- RECQL p.Met391Val Uncertain significance Multiple submitters
- RECQL p.Met410Val Uncertain significance Multiple submitters
- RECQL p.Met630Thr Uncertain significance Multiple submitters
- RECQL p.Phe281Ser Uncertain significance Multiple submitters
- RECQL p.Phe300Ile Uncertain significance Multiple submitters
Predictors split 168
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 168
- RECQL p.Ala565Val Uncertain significance Multiple submitters
- RECQL p.Arg203Ile Uncertain significance Multiple submitters
- RECQL p.Arg291Gln Uncertain significance Multiple submitters
- RECQL p.Arg291Trp Uncertain significance Multiple submitters
- RECQL p.Arg455His Uncertain significance Multiple submitters
- RECQL p.Asn347His Uncertain significance Multiple submitters
- RECQL p.Asn507Ile Uncertain significance Multiple submitters
-
RECQL p.Asp264Glu
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Asp303Tyr Uncertain significance Multiple submitters
-
RECQL p.Asp72Gly
Uncertain significance
Multiple submitters
RECON progeroid syndrome
-
RECQL p.Asp81Val
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Cys479Tyr Uncertain significance Multiple submitters
- RECQL p.Gln266His Uncertain significance Multiple submitters
- RECQL p.Gln48Pro Uncertain significance Multiple submitters
- RECQL p.Gly342Asp Uncertain significance Multiple submitters
- RECQL p.Ile194Met Uncertain significance Multiple submitters
- RECQL p.Ile251Thr Uncertain significance Multiple submitters
- RECQL p.Ile25Phe Uncertain significance Multiple submitters
- RECQL p.Ile304Thr Uncertain significance Multiple submitters
- RECQL p.Ile423Thr Uncertain significance Multiple submitters
- RECQL p.Ile516Thr Uncertain significance Multiple submitters
- RECQL p.Ile551Arg Uncertain significance Multiple submitters
-
RECQL p.Leu238Phe
Uncertain significance
Multiple submitters
RECON progeroid syndrome
-
RECQL p.Leu28Phe
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
- RECQL p.Leu97Phe Uncertain significance Multiple submitters
- RECQL p.Lys167Glu Uncertain significance Multiple submitters
- RECQL p.Lys196Arg Uncertain significance Multiple submitters
- RECQL p.Lys439Gln Uncertain significance Multiple submitters
-
RECQL p.Lys487Thr
Benign
Multiple submitters
RECON progeroid syndrome
-
RECQL p.Lys514Gln
Uncertain significance
Multiple submitters
RECON progeroid syndrome
- RECQL p.Lys70Glu Uncertain significance Multiple submitters
- RECQL p.Met104Val Uncertain significance Multiple submitters
- RECQL p.Met144Leu Uncertain significance Multiple submitters
- RECQL p.Met429Val Uncertain significance Multiple submitters
- RECQL p.Met432Ile Uncertain significance Multiple submitters
- RECQL p.Met443Thr Uncertain significance Multiple submitters
- RECQL p.Met588Lys Uncertain significance Multiple submitters
- RECQL p.Phe277Leu Uncertain significance Multiple submitters
- RECQL p.Pro294Ser Uncertain significance Multiple submitters
- RECQL p.Pro294Thr Uncertain significance Multiple submitters
- RECQL p.Ser165Asn Uncertain significance Multiple submitters
- RECQL p.Ser568Leu Uncertain significance Multiple submitters
- RECQL p.Thr331Met Uncertain significance Multiple submitters
-
RECQL p.Tyr208Cys
Uncertain significance
Multiple submitters
hereditary breast carcinoma
- RECQL p.Tyr208His Uncertain significance Multiple submitters
-
RECQL p.Tyr559Asn
Uncertain significance
Multiple submitters
RECQL-related disorder
- RECQL p.Tyr559Cys Uncertain significance Multiple submitters
- RECQL p.Val261Ile Uncertain significance Multiple submitters
- RECQL p.Val372Leu Uncertain significance Multiple submitters
- RECQL p.Val431Leu Uncertain significance Multiple submitters
- RECQL p.Val86Phe Uncertain significance Multiple submitters
- RECQL p.Ala158Thr Uncertain significance Single submitter
- RECQL p.Ala158Val Uncertain significance Single submitter
- RECQL p.Ala175Pro Uncertain significance Single submitter
- RECQL p.Ala217Ser Uncertain significance Single submitter
- RECQL p.Ala279Gly Uncertain significance Single submitter
- RECQL p.Ala279Thr Uncertain significance Single submitter
- RECQL p.Ala2Pro Uncertain significance Single submitter
-
RECQL p.Ala565Gly
Uncertain significance
Single submitter
hereditary neoplastic syndrome
- RECQL p.Ala66Pro Uncertain significance Single submitter
- RECQL p.Arg215Gln Conflicting Single submitter
- RECQL p.Arg215Gly Uncertain significance Single submitter
- RECQL p.Arg311Ile Uncertain significance Single submitter
- RECQL p.Arg311Thr Uncertain significance Single submitter
- RECQL p.Arg31Gly Uncertain significance Single submitter
- RECQL p.Arg31Trp Uncertain significance Single submitter
- RECQL p.Arg494Gly Uncertain significance Single submitter
- RECQL p.Arg528Gly Uncertain significance Single submitter
- RECQL p.Arg644Gly Uncertain significance Single submitter
- RECQL p.Asn347Ile Uncertain significance Single submitter
- RECQL p.Asn477Ser Uncertain significance Single submitter
- RECQL p.Asn581His Uncertain significance Single submitter
- RECQL p.Asn581Tyr Uncertain significance Single submitter
- RECQL p.Asp146Asn Uncertain significance Single submitter
- RECQL p.Asp303Ala Uncertain significance Single submitter
- RECQL p.Asp303Val Uncertain significance Single submitter
- RECQL p.Asp476Asn Conflicting Single submitter
- RECQL p.Asp476Gly Uncertain significance Single submitter
- RECQL p.Asp476Tyr Uncertain significance Single submitter
- RECQL p.Cys138Phe Uncertain significance Single submitter
- RECQL p.Cys270Trp Uncertain significance Single submitter
- RECQL p.Cys475Trp Uncertain significance Single submitter
- RECQL p.Cys493Trp Uncertain significance Single submitter
- RECQL p.Cys493Tyr Uncertain significance Single submitter
- RECQL p.Gln153Pro Uncertain significance Single submitter
- RECQL p.Gln266Glu Likely benign Single submitter
- RECQL p.Gln366Glu Uncertain significance Single submitter
- RECQL p.Glu168Gln Uncertain significance Single submitter
- RECQL p.Glu17Lys Uncertain significance Single submitter
- RECQL p.Glu22Val Uncertain significance Single submitter
- RECQL p.Glu396Asp Uncertain significance Single submitter
- RECQL p.Glu485Gln Uncertain significance Single submitter
- RECQL p.Glu543Gln Uncertain significance Single submitter
- RECQL p.Glu557Asp Uncertain significance Single submitter
- RECQL p.Glu557Lys Uncertain significance Single submitter
-
RECQL p.Gly310Arg
Uncertain significance
Single submitter
RECON progeroid syndrome
- RECQL p.Gly406Ala Uncertain significance Single submitter
- RECQL p.Gly521Ala Uncertain significance Single submitter
- RECQL p.Gly521Arg Uncertain significance Single submitter
- RECQL p.Gly531Ala Uncertain significance Single submitter
- RECQL p.Gly531Arg Uncertain significance Single submitter
-
RECQL p.His461Arg
Conflicting
Single submitter
hereditary breast ovarian cancer syndrome
- RECQL p.Ile100Leu Uncertain significance Single submitter
- RECQL p.Ile426Arg Uncertain significance Single submitter
- RECQL p.Ile426Thr Uncertain significance Single submitter
- RECQL p.Ile489Thr Uncertain significance Single submitter
- RECQL p.Ile497Ser Uncertain significance Single submitter
- RECQL p.Ile586Met Uncertain significance Single submitter
- RECQL p.Ile586Ser Uncertain significance Single submitter
- RECQL p.Leu184Phe Uncertain significance Single submitter
- RECQL p.Leu334Val Uncertain significance Single submitter
- RECQL p.Leu457Ser Uncertain significance Single submitter
- RECQL p.Leu513Phe Uncertain significance Single submitter
- RECQL p.Leu537His Uncertain significance Single submitter
- RECQL p.Leu7Val Uncertain significance Single submitter
- RECQL p.Leu83Arg Uncertain significance Single submitter
- RECQL p.Lys171Glu Uncertain significance Single submitter
- RECQL p.Lys185Gln Uncertain significance Single submitter
-
RECQL p.Lys359Asn
Conflicting
Single submitter
RECON progeroid syndrome
- RECQL p.Lys526Glu Uncertain significance Single submitter
- RECQL p.Lys556Asn Uncertain significance Single submitter
- RECQL p.Lys571Glu Uncertain significance Single submitter
- RECQL p.Lys575Asn Uncertain significance Single submitter
- RECQL p.Lys645Glu Uncertain significance Single submitter
- RECQL p.Lys91Glu Uncertain significance Single submitter
- RECQL p.Met104Ile Uncertain significance Single submitter
- RECQL p.Met113Ile Uncertain significance Single submitter
- RECQL p.Met144Ile Uncertain significance Single submitter
- RECQL p.Met177Ile Uncertain significance Single submitter
- RECQL p.Met201Ile Uncertain significance Single submitter
- RECQL p.Met432Lys Uncertain significance Single submitter
- RECQL p.Met443Ile Uncertain significance Single submitter
- RECQL p.Met474Ile Uncertain significance Single submitter
- RECQL p.Met588Thr Uncertain significance Single submitter
- RECQL p.Phe200Leu Uncertain significance Single submitter
- RECQL p.Phe420Leu Uncertain significance Single submitter
- RECQL p.Pro246Ala Uncertain significance Single submitter
- RECQL p.Pro284Gln Uncertain significance Single submitter
- RECQL p.Pro284Thr Uncertain significance Single submitter
- RECQL p.Pro535Arg Uncertain significance Single submitter
- RECQL p.Pro535His Uncertain significance Single submitter
- RECQL p.Pro574Leu Uncertain significance Single submitter
- RECQL p.Pro94Gln Uncertain significance Single submitter
- RECQL p.Pro94Leu Likely benign Single submitter
- RECQL p.Ser120Gly Uncertain significance Single submitter
- RECQL p.Ser130Leu Uncertain significance Single submitter
- RECQL p.Ser165Gly Uncertain significance Single submitter
- RECQL p.Ser182Tyr Uncertain significance Single submitter
- RECQL p.Ser280Ala Uncertain significance Single submitter
- RECQL p.Ser428Leu Uncertain significance Single submitter
All RECQL variants
Likely pathogenic 8
- c.1099-2A>G Single submitter hereditary neoplastic syndrome
- c.215-20_223del Single submitter hereditary neoplastic syndrome
- c.502-2A>G Single submitter cancer
- c.-45-1G>A Single submitter hereditary neoplastic syndrome
- p.Cys414fs Single submitter RECON progeroid syndrome
- p.Gln147Ter Single submitter leukoencephalopathy with calcifications and cysts
- p.Gln226fs Single submitter hereditary neoplastic syndrome
- p.Ser361Ter Single submitter
Conflicting classifications of pathogenicity 60
- c.1098+6del Single submitter
- c.1356-7T>C Single submitter
- c.1797+7G>A Single submitter
- c.1798-6_1798-5del Single submitter RECON progeroid syndrome
- c.501+3A>G Single submitter Hereditary cancer
- c.700+4T>A Single submitter
- c.701-10_701-7del Single submitter
- c.867+4T>C Single submitter
- c.868-10T>A Single submitter hereditary neoplastic syndrome
- c.868-2A>G Single submitter RECON progeroid syndrome
- p.Ala248Thr Single submitter RECON progeroid syndrome ⚠
- p.Ala483Glu Single submitter ⚠
- p.Ala67Ser Single submitter ⚠
- p.Arg215Gln Single submitter ⚠
- p.Arg215Leu Single submitter ⚠
- p.Arg455del Single submitter RECON progeroid syndrome
- p.Asn577Thr Single submitter ⚠
- p.Asn581Ser Single submitter ⚠
- p.Asn619Ile Single submitter ⚠
- p.Asp476Asn Single submitter ⚠
- p.Asp517Ter Single submitter hereditary breast ovarian cancer syndrome
- p.Asp54Asn Single submitter ⚠
- p.Cys129Tyr Single submitter Hereditary cancer
- p.Cys270Tyr Single submitter RECQL-related disorder ⚠
- p.Cys321Tyr Single submitter RECQL-related disorder ⚠
- p.Cys414Tyr Single submitter ⚠
- p.Gln266Ter Single submitter hereditary neoplastic syndrome
- p.Gln553His Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu616= Single submitter
- p.Glu98Ter Single submitter hereditary neoplastic syndrome
- p.His461Arg Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Ile156Met Single submitter Hereditary cancer ⚠
- p.Ile489Val Single submitter Hereditary cancer ⚠
- p.Ile551Val Single submitter ⚠
- p.Lys359Asn Single submitter RECON progeroid syndrome ⚠
- p.Lys393Ter Single submitter RECON progeroid syndrome
- p.Lys544Met Single submitter ⚠
- p.Met144fs Single submitter hereditary neoplastic syndrome
- p.Met1Thr Single submitter hereditary breast ovarian cancer syndrome
- p.Met458Ile Single submitter ⚠
- p.Phe245= Single submitter
- p.Ser164_Ser165insTer Single submitter hereditary neoplastic syndrome
- p.Ser482= Single submitter
- p.Ser5= Single submitter
- p.Ser560Asn Single submitter ⚠
- p.Ser602Leu Single submitter RECON progeroid syndrome ⚠
- p.Ser620Ter Single submitter hereditary neoplastic syndrome
- p.Thr134Ile Single submitter Hereditary cancer ⚠
- p.Thr263= Single submitter
- p.Thr29Met Single submitter RECQL-related disorder ⚠
- p.Thr536Ile Single submitter ⚠
- p.Tyr287= Single submitter
- p.Tyr554Cys Single submitter ⚠
- p.Val109Ile Single submitter ⚠
- p.Val136Ile Single submitter Hereditary cancer ⚠
- p.Val173Asp Single submitter RECQL-related disorder ⚠
- p.Val189= Single submitter
- p.Val4Ile Single submitter RECON progeroid syndrome ⚠
- p.Val86Ile Single submitter ⚠
Benign 59
- c.1216+66C>T Multiple submitters
- c.1216+82G>A Multiple submitters
- c.1355+103G>C Multiple submitters
- c.1355+30T>C Multiple submitters
- c.1447+155G>T Multiple submitters
- c.1447+161T>G Multiple submitters
- c.1667+53T>A Multiple submitters
- c.17-172C>T Multiple submitters
- c.17-76C>T Multiple submitters
- c.1798-5del Multiple submitters familial ovarian cancer
- c.394+94A>G Multiple submitters
- c.395-72C>A Multiple submitters
- c.395-72C>G Multiple submitters
- c.395-73A>G Multiple submitters
- c.868-61A>G Multiple submitters
- c.868-89T>C Multiple submitters
- c.949+113A>G Multiple submitters
- c.950-33A>G Multiple submitters
- c.950-54C>T Multiple submitters
- c.-349C>T Multiple submitters
- c.-411A>C Multiple submitters
- c.-45-92C>T Multiple submitters
- c.-586G>T Multiple submitters
- c.*433T>C Multiple submitters
- p.Asn577= Multiple submitters
- p.Gln633= Multiple submitters
- p.Lys487Thr Multiple submitters RECON progeroid syndrome ⚠
- p.Thr278Arg Multiple submitters RECON progeroid syndrome
- p.Val102Ile Multiple submitters RECON progeroid syndrome
- c.1355+218T>G Single submitter
- c.1447+198C>T Single submitter
- c.1448-114del Single submitter
- c.1448-157_1448-152del Single submitter
- c.1667+53del Single submitter
- c.1668-7del Single submitter
- c.1798-231T>C Single submitter
- c.1798-3dup Single submitter
- c.214+23_214+24del Single submitter
- c.214+24del Single submitter
- c.214+7dup Single submitter
- c.394+16dup Single submitter
- c.395-13_395-10del Single submitter
- c.395-22_395-21dup Single submitter
- c.395-345G>A Single submitter
- c.395-5T>C Single submitter
- c.395-71dup Single submitter
- c.395-7C>T Single submitter hereditary neoplastic syndrome
- c.501+15C>T Single submitter hereditary neoplastic syndrome
- c.501+219A>G Single submitter
- c.501+27del Single submitter
- c.867+13del Single submitter
- c.867+288A>G Single submitter
- c.868-220T>C Single submitter
- c.868-68dup Single submitter
- c.949+169G>T Single submitter
- c.949+190A>G Single submitter
- c.-207C>T Single submitter
- c.-421_-407del Single submitter
- c.*201A>G Single submitter
Benign/Likely benign 21
- c.1099-17A>G Multiple submitters
- c.17-16G>C Multiple submitters
- c.17-17C>T Multiple submitters
- c.1797+14_1797+17del Multiple submitters RECON progeroid syndrome
- c.1798-18T>A Multiple submitters
- c.1798-4G>T Multiple submitters
- c.1798-5dup Multiple submitters
- c.1798-6_1798-5dup Multiple submitters
- c.1798-7_1798-5dup Multiple submitters RECON progeroid syndrome
- c.395-10del Multiple submitters
- c.395-11_395-10del Multiple submitters RECON progeroid syndrome
- c.395-22_395-19dup Multiple submitters
- c.395-22dup Multiple submitters
- c.701-4del Multiple submitters
- c.*6A>C Multiple submitters
- p.Asn363Ser Multiple submitters RECON progeroid syndrome
- p.Asp495His Multiple submitters hereditary neoplastic syndrome
- p.Gln26= Multiple submitters
- p.Leu18= Multiple submitters
- p.Pro139= Multiple submitters
- p.Val372Ile Multiple submitters
Likely benign 444
Showing the top 300 by review status; the full set is in the sitemap.
- c.1217-18A>G Multiple submitters
- c.1448-14T>C Multiple submitters
- c.1668-81G>A Multiple submitters
- c.17-15C>T Multiple submitters hereditary neoplastic syndrome
- c.17-4A>G Multiple submitters
- c.1798-8_1798-5dup Multiple submitters RECON progeroid syndrome
- c.215-86G>A Multiple submitters
- c.394+10A>G Multiple submitters
- c.394+17T>A Multiple submitters
- c.395-4T>C Multiple submitters
- c.395-9C>T Multiple submitters hereditary neoplastic syndrome
- c.502-14T>G Multiple submitters
- c.502-18A>G Multiple submitters
- c.701-18C>T Multiple submitters
- c.949+76A>G Multiple submitters
- c.950-15C>T Multiple submitters
- c.950-8T>C Multiple submitters
- c.-434G>A Multiple submitters
- c.*1T>G Multiple submitters
- c.*306A>G Multiple submitters
- p.Ala105= Multiple submitters
- p.Ala2= Multiple submitters
- p.Ala20= Multiple submitters
- p.Ala217= Multiple submitters RECON progeroid syndrome
- p.Ala248= Multiple submitters
- p.Ala470= Multiple submitters
- p.Ala525= Multiple submitters
- p.Ala55= Multiple submitters
- p.Arg232= Multiple submitters
- p.Arg454= Multiple submitters
- p.Asn101= Multiple submitters
- p.Asn179= Multiple submitters
- p.Asn247= Multiple submitters
- p.Asn282= Multiple submitters
- p.Asp131= Multiple submitters
- p.Asp382= Multiple submitters
- p.Asp541= Multiple submitters
- p.Cys224= Multiple submitters
- p.Cys475= Multiple submitters
- p.Gln147= Multiple submitters
- p.Gln24= Multiple submitters
- p.Gln244= Multiple submitters
- p.Gln32= Multiple submitters
- p.Gln502= Multiple submitters
- p.Gln552= Multiple submitters
- p.Gln553Lys Multiple submitters
- p.Glu168= Multiple submitters
- p.Glu328= Multiple submitters
- p.Glu617= Multiple submitters
- p.Gly228= Multiple submitters
- p.Gly314= Multiple submitters
- p.Gly377= Multiple submitters
- p.Gly611= Multiple submitters
- p.Gly640= Multiple submitters
- p.His19= Multiple submitters
- p.His260= Multiple submitters
- p.His340= Multiple submitters
- p.His357= Multiple submitters
- p.Ile301= Multiple submitters
- p.Ile304= Multiple submitters
- p.Ile387= Multiple submitters
- p.Ile646= Multiple submitters
- p.Leu11= Multiple submitters
- p.Leu135= Multiple submitters
- p.Leu151= Multiple submitters
- p.Leu184= Multiple submitters
- p.Leu204= Multiple submitters
- p.Leu307= Multiple submitters
- p.Leu337= Multiple submitters
- p.Leu496= Multiple submitters
- p.Leu506= Multiple submitters
- p.Leu513= Multiple submitters
- p.Leu578= Multiple submitters
- p.Leu579= Multiple submitters
- p.Leu7= Multiple submitters
- p.Leu83= Multiple submitters
- p.Leu97= Multiple submitters
- p.Lys152= Multiple submitters
- p.Lys359= Multiple submitters
- p.Lys380= Multiple submitters
- p.Lys45= Multiple submitters
- p.Phe275= Multiple submitters
- p.Phe424= Multiple submitters
- p.Pro114= Multiple submitters
- p.Pro191= Multiple submitters
- p.Pro574= Multiple submitters
- p.Pro74= Multiple submitters
- p.Ser142= Multiple submitters
- p.Ser182= Multiple submitters
- p.Ser602= Multiple submitters
- p.Ser603= Multiple submitters
- p.Ser63= Multiple submitters
- p.Thr103= Multiple submitters
- p.Thr115= Multiple submitters
- p.Thr214= Multiple submitters
- p.Thr256= Multiple submitters
- p.Thr331= Multiple submitters
- p.Thr594= Multiple submitters
- p.Tyr312= Multiple submitters
- p.Tyr418= Multiple submitters
- p.Tyr446= Multiple submitters
- p.Tyr492= Multiple submitters
- p.Tyr564= Multiple submitters
- p.Val136= Multiple submitters
- p.Val369= Multiple submitters
- p.Val386= Multiple submitters
- c.1098+10A>G Single submitter
- c.1098+12A>G Single submitter
- c.1098+13T>A Single submitter
- c.1098+17C>T Single submitter
- c.1098+20T>C Single submitter
- c.1098+7T>C Single submitter
- c.1098+8C>G Single submitter
- c.1098+9T>C Single submitter
- c.1099-10A>T Single submitter
- c.1099-15G>A Single submitter
- c.1099-7A>T Single submitter
- c.1216+14A>G Single submitter
- c.1216+18C>T Single submitter
- c.1216+20A>G Single submitter
- c.1217-10C>T Single submitter
- c.1217-12C>G Single submitter
- c.1217-16G>A Single submitter
- c.1217-16G>T Single submitter
- c.1217-26_1217-16del Single submitter
- c.1217-8C>A Single submitter
- c.1355+10A>G Single submitter
- c.1355+250G>A Single submitter
- c.1355+9C>T Single submitter
- c.1356-11T>C Single submitter
- c.1356-15T>A Single submitter
- c.1356-18C>A Single submitter
- c.1356-18C>G Single submitter
- c.1356-5T>G Single submitter
- c.1447+12_1447+14del Single submitter
- c.1447+12G>A Single submitter
- c.1447+13T>C Single submitter
- c.1447+7T>C Single submitter
- c.1448-12G>A Single submitter
- c.1448-14_1448-13del Single submitter
- c.1448-15T>C Single submitter
- c.1448-17T>C Single submitter
- c.1448-18A>G Single submitter
- c.1448-7A>C Single submitter
- c.16+10A>G Single submitter
- c.16+13G>C Single submitter
- c.16+16T>C Single submitter
- c.16+20T>C Single submitter
- c.16+57T>C Single submitter
- c.16+7A>G Single submitter
- c.1667+15A>G Single submitter
- c.1667+18C>G Single submitter
- c.1667+8C>G Single submitter
- c.1668-11A>G Single submitter
- c.1668-160C>T Single submitter
- c.17-4A>T Single submitter
- c.17-7C>T Single submitter
- c.17-9C>T Single submitter
- c.1797+11A>T Single submitter
- c.1797+20C>T Single submitter
- c.1798-12_1798-11insTTG Single submitter
- c.1798-13T>C Single submitter
- c.1798-18_1798-17insTTG Single submitter
- c.1798-21_1798-17del Single submitter
- c.1798-21_1798-18del Single submitter
- c.1798-240_1798-236del Single submitter
- c.1798-4dup Single submitter
- c.1798-5_1798-4insTTG Single submitter
- c.1798-5T>G Single submitter
- c.1798-6T>A Single submitter
- c.1798-7_1798-5del Single submitter
- c.1798-9_1798-5dup Single submitter
- c.214+22_214+24del Single submitter
- c.214+6C>T Single submitter hereditary neoplastic syndrome
- c.214+7_214+8dup Single submitter
- c.214+7T>C Single submitter
- c.215-14C>A Single submitter
- c.215-169C>A Single submitter
- c.215-234A>T Single submitter
- c.215-286G>A Single submitter
- c.215-287C>T Single submitter
- c.215-4C>G Single submitter
- c.215-5C>T Single submitter
- c.215-6T>C Single submitter
- c.395-11_395-10insC Single submitter
- c.395-133_395-126dup Single submitter
- c.395-210G>A Single submitter
- c.395-6T>G Single submitter
- c.395-7_395-6del Single submitter
- c.395-75_395-73del Single submitter Hereditary cancer
- c.395-76_395-73del Single submitter Hereditary cancer
- c.395-7del Single submitter hereditary neoplastic syndrome
- c.395-9dup Single submitter
- c.501+10A>T Single submitter
- c.501+15C>G Single submitter
- c.501+9C>T Single submitter
- c.502-103G>C Single submitter
- c.502-10C>T Single submitter hereditary neoplastic syndrome
- c.502-13_502-11del Single submitter
- c.502-162G>A Single submitter
- c.502-17T>A Single submitter
- c.502-19dup Single submitter
- c.700+14A>C Single submitter
- c.700+14A>G Single submitter
- c.700+17T>C Single submitter
- c.700+19G>A Single submitter
- c.700+7A>G Single submitter
- c.701-14G>A Single submitter
- c.701-14G>C Single submitter
- c.701-16_701-15del Single submitter
- c.867+14A>C Single submitter
- c.867+18C>A Single submitter
- c.867+18C>G Single submitter
- c.867+20A>G Single submitter
- c.868-118G>A Single submitter
- c.868-11G>A Single submitter
- c.868-7T>A Single submitter
- c.949+13C>G Single submitter
- c.949+13C>T Single submitter
- c.949+14_949+17del Single submitter
- c.949+14A>C Single submitter
- c.949+17C>A Single submitter
- c.949+20A>G Single submitter
- c.949+8A>T Single submitter
- c.949+9A>C Single submitter
- c.950-17C>T Single submitter
- c.950-83T>C Single submitter
- c.-215C>T Single submitter
- c.-45-4T>C Single submitter
- c.-476C>G Single submitter
- c.*192T>C Single submitter
- c.*382G>A Single submitter
- p.Ala127= Single submitter
- p.Ala163= Single submitter
- p.Ala207= Single submitter
- p.Ala237= Single submitter
- p.Ala257= Single submitter
- p.Ala265= Single submitter
- p.Ala279= Single submitter
- p.Ala346= Single submitter
- p.Ala370= Single submitter
- p.Ala412= Single submitter
- p.Ala459= Single submitter
- p.Ala483Pro Single submitter
- p.Ala524= Single submitter
- p.Ala530= Single submitter
- p.Ala534= Single submitter
- p.Ala547= Single submitter
- p.Ala565= Single submitter
- p.Ala57= Single submitter
- p.Ala576= Single submitter
- p.Ala585= Single submitter
- p.Ala600Gly Single submitter
- p.Ala627= Single submitter
- p.Ala627Ser Single submitter
- p.Ala649= Single submitter
- p.Ala66= Single submitter
- p.Arg211= Single submitter
- p.Arg215= Single submitter
- p.Arg283= Single submitter
- p.Arg291= Single submitter
- p.Arg358= Single submitter
- p.Arg425= Single submitter
- p.Arg494= Single submitter
- p.Arg528= Single submitter
- p.Arg93= Single submitter
- p.Asn162= Single submitter
- p.Asn259Ser Single submitter
- p.Asn285= Single submitter
- p.Asn336Lys Single submitter
- p.Asn363= Single submitter
- p.Asn449= Single submitter
- p.Asn488= Single submitter
- p.Asn580Lys Single submitter
- p.Asn59= Single submitter
- p.Asn596= Single submitter
- p.Asn59Ser Single submitter
- p.Asn619= Single submitter
- p.Asn629= Single submitter
- p.Asn85= Single submitter
- p.Asp264= Single submitter
- p.Asp352= Single submitter
- p.Asp408= Single submitter
- p.Asp413= Single submitter
- p.Asp517= Single submitter
- p.Asp648= Single submitter
- p.Asp72= Single submitter
- p.Asp81= Single submitter
- p.Cys129= Single submitter
- p.Cys138= Single submitter
- p.Cys223= Single submitter
- p.Cys321= Single submitter
- p.Cys447= Single submitter
- p.Cys49= Single submitter
- p.Gln124= Single submitter
- p.Gln153= Single submitter
- p.Gln226= Single submitter
- p.Gln266Glu Single submitter ⚠
- p.Gln315= Single submitter
- p.Gln324= Single submitter
Uncertain significance 1196
Showing the top 300 by review status; the full set is in the sitemap.
- c.1098+1G>A Multiple submitters
- c.1216+3A>G Multiple submitters hereditary neoplastic syndrome
- c.1217-3C>T Multiple submitters
- c.1353_1355+1del Multiple submitters
- c.1355+1G>A Multiple submitters familial ovarian cancer
- c.1356-12A>G Multiple submitters
- c.1447+3_1447+6del Multiple submitters
- c.1666_1667+3dup Multiple submitters
- c.1667_1667+3del Multiple submitters RECON progeroid syndrome
- c.1667+5G>C Multiple submitters
- c.1798-2A>C Multiple submitters
- c.1798-2A>T Multiple submitters hereditary neoplastic syndrome
- c.394+1G>A Multiple submitters RECON progeroid syndrome
- c.867+3A>T Multiple submitters RECQL-related disorder
- c.950-6C>G Multiple submitters
- p.275FT[1] Multiple submitters
- p.Ala195Ser Multiple submitters ⚠
- p.Ala210Glu Multiple submitters ⚠
- p.Ala2Thr Multiple submitters ⚠
- p.Ala2Val Multiple submitters ⚠
- p.Ala346Thr Multiple submitters ⚠
- p.Ala459Ser Multiple submitters Short stature ⚠
- p.Ala525Gly Multiple submitters ⚠
- p.Ala530Thr Multiple submitters ⚠
- p.Ala547Val Multiple submitters ⚠
- p.Ala565Val Multiple submitters ⚠
- p.Ala57fs Multiple submitters
- p.Ala57Pro Multiple submitters ⚠
- p.Ala583Val Multiple submitters ⚠
- p.Ala641Val Multiple submitters ⚠
- p.Ala67Thr Multiple submitters ⚠
- p.Arg203Ile Multiple submitters ⚠
- p.Arg203Lys Multiple submitters ⚠
- p.Arg212del Multiple submitters
- p.Arg215Ter Multiple submitters
- p.Arg232Gly Multiple submitters ⚠
- p.Arg232Thr Multiple submitters ⚠
- p.Arg243Gln Multiple submitters ⚠
- p.Arg291Gln Multiple submitters ⚠
- p.Arg291Trp Multiple submitters ⚠
- p.Arg31Lys Multiple submitters ⚠
- p.Arg384Gly Multiple submitters ⚠
- p.Arg404Cys Multiple submitters ⚠
- p.Arg404His Multiple submitters ⚠
- p.Arg407Gln Multiple submitters ⚠
- p.Arg407Ter Multiple submitters RECQL-related disorder
- p.Arg454Cys Multiple submitters ⚠
- p.Arg454His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Arg455Cys Multiple submitters ⚠
- p.Arg455His Multiple submitters ⚠
- p.Arg455Pro Multiple submitters ⚠
- p.Arg455Ser Multiple submitters ⚠
- p.Arg528fs Multiple submitters RECON progeroid syndrome
- p.Arg539Cys Multiple submitters ⚠
- p.Arg539His Multiple submitters
- p.Arg539Pro Multiple submitters ⚠
- p.Arg599Gly Multiple submitters RECON progeroid syndrome ⚠
- p.Arg644_Lys645del Multiple submitters
- p.Arg644Ile Multiple submitters ⚠
- p.Asn162Ile Multiple submitters ⚠
- p.Asn285Ser Multiple submitters ⚠
- p.Asn296Ser Multiple submitters ⚠
- p.Asn309fs Multiple submitters
- p.Asn309Ser Multiple submitters ⚠
- p.Asn347His Multiple submitters ⚠
- p.Asn347Ser Multiple submitters ⚠
- p.Asn434Tyr Multiple submitters ⚠
- p.Asn488fs Multiple submitters
- p.Asn507Ile Multiple submitters ⚠
- p.Asn507Lys Multiple submitters ⚠
- p.Asn577His Multiple submitters ⚠
- p.Asn581Asp Multiple submitters RECON progeroid syndrome ⚠
- p.Asn581Lys Multiple submitters ⚠
- p.Asn59fs Multiple submitters
- p.Asn619_Ser620insAsn Multiple submitters
- p.Asn619fs Multiple submitters
- p.Asn619His Multiple submitters ⚠
- p.Asn622Thr Multiple submitters RECON progeroid syndrome ⚠
- p.Asn69Lys Multiple submitters ⚠
- p.Asp12Ala Multiple submitters ⚠
- p.Asp12Glu Multiple submitters ⚠
- p.Asp234Gly Multiple submitters ⚠
- p.Asp264Glu Multiple submitters RECON progeroid syndrome ⚠
- p.Asp303Tyr Multiple submitters ⚠
- p.Asp326_Ser327insTer Multiple submitters
- p.Asp352Gly Multiple submitters ⚠
- p.Asp379Gly Multiple submitters ⚠
- p.Asp382Gly Multiple submitters ⚠
- p.Asp413Glu Multiple submitters
- p.Asp413His Multiple submitters
- p.Asp422Val Multiple submitters ⚠
- p.Asp481Val Multiple submitters ⚠
- p.Asp52Glu Multiple submitters ⚠
- p.Asp541His Multiple submitters ⚠
- p.Asp54His Multiple submitters ⚠
- p.Asp558Glu Multiple submitters ⚠
- p.Asp647Asn Multiple submitters RECON progeroid syndrome ⚠
- p.Asp72Gly Multiple submitters RECON progeroid syndrome ⚠
- p.Asp81Val Multiple submitters RECON progeroid syndrome ⚠
- p.Cys122Trp Multiple submitters ⚠
- p.Cys122Tyr Multiple submitters ⚠
- p.Cys224Tyr Multiple submitters ⚠
- p.Cys274fs Multiple submitters
- p.Cys274Tyr Multiple submitters ⚠
- p.Cys321fs Multiple submitters
- p.Cys414Arg Multiple submitters ⚠
- p.Cys414Ter Multiple submitters
- p.Cys447Arg Multiple submitters hereditary neoplastic syndrome ⚠
- p.Cys479Tyr Multiple submitters ⚠
- p.Cys49Arg Multiple submitters ⚠
- p.Gln226His Multiple submitters ⚠
- p.Gln244Ter Multiple submitters
- p.Gln266His Multiple submitters ⚠
- p.Gln26Ter Multiple submitters
- p.Gln335His Multiple submitters ⚠
- p.Gln460Ter Multiple submitters
- p.Gln48Arg Multiple submitters ⚠
- p.Gln48Pro Multiple submitters ⚠
- p.Gln48Ter Multiple submitters
- p.Gln552Glu Multiple submitters ⚠
- p.Gln552His Multiple submitters RECON progeroid syndrome ⚠
- p.Gln552Ter Multiple submitters
- p.Gln589Glu Multiple submitters ⚠
- p.Gln595Arg Multiple submitters RECON progeroid syndrome ⚠
- p.Gln595Ter Multiple submitters
- p.Gln610Lys Multiple submitters ⚠
- p.Glu176Gln Multiple submitters ⚠
- p.Glu183Ala Multiple submitters RECON progeroid syndrome ⚠
- p.Glu205Asp Multiple submitters ⚠
- p.Glu205Gln Multiple submitters ⚠
- p.Glu205Lys Multiple submitters ⚠
- p.Glu289Lys Multiple submitters
- p.Glu401Gly Multiple submitters ⚠
- p.Glu469Gly Multiple submitters ⚠
- p.Glu505fs Multiple submitters
- p.Glu508Ter Multiple submitters
- p.Glu51Gly Multiple submitters ⚠
- p.Glu540Gln Multiple submitters ⚠
- p.Glu543Asp Multiple submitters ⚠
- p.Glu543del Multiple submitters
- p.Glu609Asp Multiple submitters ⚠
- p.Glu616Ter Multiple submitters
- p.Glu617Lys Multiple submitters ⚠
- p.Glu71Lys Multiple submitters ⚠
- p.Glu9Asp Multiple submitters ⚠
- p.Gly117Ser Multiple submitters ⚠
- p.Gly132Arg Multiple submitters ⚠
- p.Gly342Ala Multiple submitters ⚠
- p.Gly342Asp Multiple submitters ⚠
- p.Gly375Ala Multiple submitters ⚠
- p.Gly377Arg Multiple submitters ⚠
- p.Gly377Ter Multiple submitters
- p.Gly419Ser Multiple submitters ⚠
- p.Gly436Glu Multiple submitters ⚠
- p.Gly523Val Multiple submitters ⚠
- p.Gly56Arg Multiple submitters RECON progeroid syndrome ⚠
- p.Gly611Arg Multiple submitters ⚠
- p.Gly621Arg Multiple submitters ⚠
- p.His174Arg Multiple submitters
- p.His229Arg Multiple submitters ⚠
- p.His260Gln Multiple submitters ⚠
- p.His260Pro Multiple submitters RECON progeroid syndrome ⚠
- p.His345Leu Multiple submitters ⚠
- p.His357Tyr Multiple submitters
- p.His548fs Multiple submitters RECON progeroid syndrome
- p.His548Tyr Multiple submitters ⚠
- p.His584Gln Multiple submitters ⚠
- p.Ile141Thr Multiple submitters ⚠
- p.Ile194Met Multiple submitters ⚠
- p.Ile194Thr Multiple submitters ⚠
- p.Ile240Val Multiple submitters ⚠
- p.Ile251Thr Multiple submitters ⚠
- p.Ile25Phe Multiple submitters ⚠
- p.Ile304Thr Multiple submitters ⚠
- p.Ile308Thr Multiple submitters ⚠
- p.Ile339Thr Multiple submitters ⚠
- p.Ile387Asn Multiple submitters ⚠
- p.Ile423Thr Multiple submitters ⚠
- p.Ile426Val Multiple submitters ⚠
- p.Ile46Val Multiple submitters ⚠
- p.Ile489fs Multiple submitters
- p.Ile497fs Multiple submitters RECON progeroid syndrome
- p.Ile497Met Multiple submitters ⚠
- p.Ile516Met Multiple submitters ⚠
- p.Ile516Thr Multiple submitters ⚠
- p.Ile545Phe Multiple submitters RECON progeroid syndrome ⚠
- p.Ile546Thr Multiple submitters ⚠
- p.Ile551Arg Multiple submitters ⚠
- p.Ile82Thr Multiple submitters ⚠
- p.Leu143fs Multiple submitters
- p.Leu204Gln Multiple submitters ⚠
- p.Leu204Ile Multiple submitters ⚠
- p.Leu238Phe Multiple submitters RECON progeroid syndrome ⚠
- p.Leu269Met Multiple submitters
- p.Leu28Phe Multiple submitters hereditary neoplastic syndrome ⚠
- p.Leu307Val Multiple submitters ⚠
- p.Leu416Val Multiple submitters ⚠
- p.Leu506Val Multiple submitters ⚠
- p.Leu50Ser Multiple submitters ⚠
- p.Leu515Arg Multiple submitters ⚠
- p.Leu515Pro Multiple submitters ⚠
- p.Leu550Gln Multiple submitters RECQL-related disorder ⚠
- p.Leu550Pro Multiple submitters ⚠
- p.Leu578Phe Multiple submitters
- p.Leu95Phe Multiple submitters ⚠
- p.Leu95Val Multiple submitters ⚠
- p.Leu97Phe Multiple submitters ⚠
- p.Lys107Arg Multiple submitters ⚠
- p.Lys107Asn Multiple submitters RECON progeroid syndrome ⚠
- p.Lys167Glu Multiple submitters ⚠
- p.Lys196Arg Multiple submitters ⚠
- p.Lys236Glu Multiple submitters ⚠
- p.Lys325Glu Multiple submitters ⚠
- p.Lys353Glu Multiple submitters ⚠
- p.Lys380Ter Multiple submitters
- p.Lys39Gln Multiple submitters ⚠
- p.Lys40Glu Multiple submitters ⚠
- p.Lys439Gln Multiple submitters ⚠
- p.Lys44_Lys45insTer Multiple submitters
- p.Lys487fs Multiple submitters
- p.Lys509Ter Multiple submitters
- p.Lys514Gln Multiple submitters RECON progeroid syndrome ⚠
- p.Lys544del Multiple submitters
- p.Lys544Thr Multiple submitters ⚠
- p.Lys613Arg Multiple submitters ⚠
- p.Lys625Arg Multiple submitters ⚠
- p.Lys626Ala Multiple submitters
- p.Lys626Arg Multiple submitters ⚠
- p.Lys626del Multiple submitters RECON progeroid syndrome
- p.Lys626Glu Multiple submitters ⚠
- p.Lys643del Multiple submitters RECON progeroid syndrome
- p.Lys70Glu Multiple submitters ⚠
- p.Met104Val Multiple submitters ⚠
- p.Met113Thr Multiple submitters ⚠
- p.Met144Leu Multiple submitters ⚠
- p.Met144Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Met144Val Multiple submitters ⚠
- p.Met160Ile Multiple submitters ⚠
- p.Met199Ile Multiple submitters ⚠
- p.Met391Val Multiple submitters ⚠
- p.Met410Val Multiple submitters ⚠
- p.Met429Val Multiple submitters ⚠
- p.Met432Ile Multiple submitters ⚠
- p.Met443Thr Multiple submitters ⚠
- p.Met588Lys Multiple submitters ⚠
- p.Met630Thr Multiple submitters ⚠
- p.Phe213Cys Multiple submitters
- p.Phe277Leu Multiple submitters ⚠
- p.Phe281Ser Multiple submitters ⚠
- p.Phe300Ile Multiple submitters ⚠
- p.Phe385fs Multiple submitters
- p.Phe420fs Multiple submitters RECON progeroid syndrome
- p.Phe424Val Multiple submitters ⚠
- p.Phe598Cys Multiple submitters ⚠
- p.Phe623Leu Multiple submitters ⚠
- p.Phe73Leu Multiple submitters ⚠
- p.Pro126Leu Multiple submitters ⚠
- p.Pro126Ser Multiple submitters ⚠
- p.Pro233Ser Multiple submitters ⚠
- p.Pro233Thr Multiple submitters ⚠
- p.Pro294Ser Multiple submitters ⚠
- p.Pro294Thr Multiple submitters ⚠
- p.Pro535Leu Multiple submitters
- p.Pro94Ser Multiple submitters ⚠
- p.Ser13Phe Multiple submitters ⚠
- p.Ser142Cys Multiple submitters ⚠
- p.Ser165Asn Multiple submitters ⚠
- p.Ser165Cys Multiple submitters ⚠
- p.Ser197Ile Multiple submitters ⚠
- p.Ser225Arg Multiple submitters ⚠
- p.Ser280Tyr Multiple submitters ⚠
- p.Ser327Pro Multiple submitters ⚠
- p.Ser333Thr Multiple submitters ⚠
- p.Ser390Leu Multiple submitters ⚠
- p.Ser392Asn Multiple submitters ⚠
- p.Ser394Cys Multiple submitters ⚠
- p.Ser394Phe Multiple submitters ⚠
- p.Ser482del Multiple submitters
- p.Ser482Gly Multiple submitters ⚠
- p.Ser53Phe Multiple submitters ⚠
- p.Ser568Leu Multiple submitters ⚠
- p.Ser58Asn Multiple submitters ⚠
- p.Ser593Phe Multiple submitters ⚠
- p.Ser636Ala Multiple submitters ⚠
- p.Thr254Ala Multiple submitters RECON progeroid syndrome ⚠
- p.Thr256Ala Multiple submitters ⚠
- p.Thr258Ile Multiple submitters ⚠
- p.Thr258Lys Multiple submitters ⚠
- p.Thr263Met Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Thr297Ala Multiple submitters hereditary neoplastic syndrome ⚠
- p.Thr29Arg Multiple submitters ⚠
- p.Thr331Met Multiple submitters ⚠
- p.Thr354Pro Multiple submitters ⚠
- p.Thr354Ser Multiple submitters ⚠
- p.Thr371Ala Multiple submitters ⚠
- p.Thr490fs Multiple submitters
- p.Thr511Ile Multiple submitters ⚠
- p.Thr536Ala Multiple submitters ⚠
- p.Thr566Ala Multiple submitters
- p.Thr566del Multiple submitters