RTEL1 — 4139 ClinVar variants

All ClinVar germline RTEL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1744 flagged for review →

88 Pathogenic · 40 Pathogenic/Likely pathogenic · 116 Likely pathogenic · 120 Conflicting · 79 Benign · 57 Benign/Likely benign · 1640 Likely benign · 1999 Uncertain significance

Full RTEL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1744

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

RTEL1 p.Ala101Thr Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 67

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

RTEL1 p.Ala1013Thr Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala1062Thr Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala1085Thr Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Ala1275= Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala290Val Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala445Thr Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala76Val Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Ala845Val Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala891Thr Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala933Ser Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Arg1138Trp Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg1152Ser Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Arg432Trp Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Arg828Gln Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Arg84Gln Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Arg974Gln Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Arg979Gln Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg986Gln Conflicting Single submitter
RTEL1-related disorder
RTEL1 p.Arg989Gln Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg989Trp Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asn737Ser Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asn947Ser Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Asp921His Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Asp942Asn Conflicting Single submitter
dyskeratosis congenita
RTEL1 p.Gln397Glu Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Gln669Arg Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Gln680His Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Gln962Glu Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Glu850Lys Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Gly201Arg Conflicting Single submitter
RTEL1-related disorder
RTEL1 p.Gly770Arg Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.His1021Gln Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.His1114Gln Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.His465Arg Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Ile222Val Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ile558Val Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Leu1092Phe Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Leu1096Val Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Met320Thr Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Met582Leu Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro1002Leu Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Pro1031Ser Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro1141Leu Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Pro1146Leu Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro297Leu Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro82Leu Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Pro871Leu Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro996His Conflicting Single submitter
dyskeratosis congenita
RTEL1 p.Ser1073Ala Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Ser1117Gly Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ser405Ala Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Ser597Gly Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Thr1000Met Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Thr1136Ser Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Thr287Ile Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Thr434Met Conflicting Single submitter
dyskeratosis congenita
RTEL1 p.Thr636Met Conflicting Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Thr893Met Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Thr972Ile Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Thr997Ser Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Val1008Leu Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Val1049Ala Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Val1155Met Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Val11Ile Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Val402Ala Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Val515Ile Conflicting Single submitter
Inborn genetic diseases
RTEL1 p.Val967Leu Conflicting Single submitter
dyskeratosis congenita

Predictors lean, ClinVar uncertain 1465

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 1465

RTEL1 p.Ala1011Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala1012Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala1052Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala1059Ser Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1062Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1067Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala1074Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala1082Thr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1082Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1085Ser Uncertain significance Multiple submitters
RTEL1-related disorder
RTEL1 p.Ala1085Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala1101Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala1105Glu Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1105Thr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala112Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala1154Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1163Ser Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1163Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala1190Val Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala1214Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala1214Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala1275Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala168Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala188Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala188Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala232Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala237Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala289Ser Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala301Thr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala301Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala328Asp Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala328Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala328Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala328Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala387Thr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala393Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala417Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala417Val Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala429Val Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala440Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala611Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala617Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala687Val Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala718Pro Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala720Thr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala722Thr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala73Ser Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala758Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala760Pro Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala760Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala773Gly Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala808Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala827Val Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala836Gly Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala837Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala837Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala837Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala868Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala889Pro Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala896Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala902Gly Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala910Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala92Gly Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala92Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala930Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala930Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala933Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala990Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala990Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg1026Met Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg1115Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg1127His Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg1138Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg1152Lys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg1170Gln Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg1170Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg1186Gly Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg1186Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg127Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg141Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg141Leu Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg205Gly Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg213Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg213Trp Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg235Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg235His Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg324Cys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg432Gln Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg437Pro Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg437Trp Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg469Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg469His Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg469Leu Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg473His Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg574Gln Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg574Pro Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg60Gln Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg624Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg639Cys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg64Gln Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg651His Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg655Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg697Leu Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg700Gln Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg70Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg754Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg754Leu Uncertain significance Multiple submitters
dyskeratosis congenita
RTEL1 p.Arg762Gln Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg762Trp Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg769Cys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg769His Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg802Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg828Pro Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg828Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg832Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg844Trp Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg84Pro Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg84Trp Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg872Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg875Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg879Leu Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg879Pro Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg895Gly Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg895Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg895Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg895Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg957Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg979Trp Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg987Lys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg987Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg989Pro Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg999Gly Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg999Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asn214Tyr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Asn227Ser Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asn239Asp Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asn239Lys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asn637Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asn737Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asn91Asp Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asn91Ile Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asp1003Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asp1017Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asp1090Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asp1091Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asp1093Asn Uncertain significance Multiple submitters
RTEL1-related disorder
RTEL1 p.Asp220Asn Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Asp231Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Asp241Asn Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Asp302Gly Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 211

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 211

RTEL1 p.Ala353Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ala621Val Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala918Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg1068Cys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg1121Cys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg1121His Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg1127Cys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg132Trp Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg164His Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg170Cys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg379Cys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg473Cys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg574Trp Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg651Cys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg684Trp Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg702His Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg70Cys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg70Gly Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Arg729His Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg879Trp Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asp1066Asn Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Asp231Glu Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asp653Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Cys934Tyr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Cys968Ser Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Gln661Arg Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Gln680Leu Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Glu142Lys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Glu23Lys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Glu466Lys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Glu600Lys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Gly1075Cys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Gly340Ser Benign/Likely benign Multiple submitters
dyskeratosis congenita
RTEL1 p.His1124Gln Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.His238Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.His426Tyr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ile106Phe Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ile222Met Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ile602Thr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Leu1092Pro Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Leu40Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Leu467Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Leu620Val Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Leu646Phe Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Leu948Val Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Lys257Asn Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Lys626Arg Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Lys961Glu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Met224Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Met492Ile Pathogenic/Likely pathogenic Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Phe1184Cys Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Phe1184Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Phe223Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Phe912Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Phe915Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Phe952Leu Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro1122Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Pro587Leu Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Pro612Leu Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Pro650Ser Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro725Ala Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Pro757Ser Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Pro757Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ser155Gly Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ser599Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Ser688Cys Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ser925Tyr Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Thr1103Ile Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Tyr103Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Tyr347Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Tyr421Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Val1098Leu Uncertain significance Multiple submitters
Inborn genetic diseases
RTEL1 p.Val1098Met Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Val341Ala Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala232Asp Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Ala252Val Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Ala355Val Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Ala58Gly Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Ala611Val Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Ala690Ser Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Ala837Asp Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Ala918Thr Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Arg1068His Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg1127Gly Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg1127Ser Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg236Gly Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Arg473Leu Uncertain significance Single submitter
RTEL1 p.Arg550His Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg574Leu Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Arg64Gly Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Arg702Cys Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg729Cys Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Arg743Gly Uncertain significance Single submitter
RTEL1 p.Arg866Lys Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Arg957Pro Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Arg974Pro Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Asn1023Lys Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Asn176Ser Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Asn37Ser Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Asp1091Tyr Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Asp314Tyr Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Asp927Glu Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Asp942Gly Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Cys968Trp Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Gln153Pro Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Gln661His Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Gln970Leu Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Glu665Lys Conflicting Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Gly340Ala Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Gly613Trp Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Gly625Ala Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Gly674Asp Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Gly973Arg Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.His157Gln Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.His173Pro Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.His946Asp Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.His960Asp Uncertain significance Single submitter
RTEL1 p.Ile1181Thr Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Ile191Thr Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Ile695Met Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu1016Pro Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu1102Gln Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu1112Met Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu1112Val Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu323Arg Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu585Pro Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Leu799Pro Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Leu838Gln Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu838Pro Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Leu938Arg Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Leu938Phe Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Leu938Pro Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Leu948Arg Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Leu971Arg Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Lys1125Glu Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Lys152Ile Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Lys203Asn Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Lys923Asn Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Lys923Glu Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Lys923Thr Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Lys945Glu Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Lys961Asn Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Met464Ile Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Met492Val Likely pathogenic Single submitter
dyskeratosis congenita
RTEL1 p.Met900Thr Uncertain significance Single submitter
Inborn genetic diseases
RTEL1 p.Phe1128Leu Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Phe1184Leu Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Phe383Leu Uncertain significance Single submitter
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
RTEL1 p.Phe560Leu Uncertain significance Single submitter
dyskeratosis congenita, autosomal recessive 5
RTEL1 p.Phe598Leu Uncertain significance Single submitter
Inborn genetic diseases

All RTEL1 variants

Pathogenic 88

p.Arg974Ter Multiple submitters pulmonary fibrosis
p.Gln852Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.699+1G>T Single submitter pulmonary fibrosis
p.Ala1097fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala1259fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala417fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala694fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala763fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala891fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala940fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg1032fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg1186fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Arg655fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg700fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln1015Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln1042Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln1044Ter Single submitter Abnormality of blood and blood-forming tissues
p.Gln1078Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln121Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln1256fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln1256Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln1263Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln159Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln16fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln371Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln669Ter Single submitter pulmonary fibrosis
p.Gln675fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln747Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln829Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln905Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln917fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln917Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln962fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln963Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln991Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Glu1172Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu154_Ser155insTer Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu179Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu284Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu406fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu535Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu536Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu567Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu821Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu823fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gly1025fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gly1241fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gly679fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gly849fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gly951fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gly975fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.His1124fs Single submitter dyskeratosis congenita
p.His147fs Single submitter
p.Ile110fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ile1225fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ile279fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ile398fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ile742fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Leu334fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Leu631fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Leu859fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Leu862fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Lys1176fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Lys3_Ile4insTer Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Lys568Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Lys961Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Phe928fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Pro561fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Pro757fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ser368Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ser594fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ser767fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Thr1131fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Thr997fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Trp456Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Trp682Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Tyr24Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Tyr421Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Tyr648Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Tyr978fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Val734fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Val956fs Single submitter dyskeratosis congenita, autosomal recessive 5
c.1596-2A>G No assertion criteria pulmonary fibrosis
p.Ala621Thr No assertion criteria dyskeratosis congenita, autosomal dominant 4 ⚠
p.Glu591Asp No assertion criteria dyskeratosis congenita, autosomal recessive 5 ⚠
p.His1210fs No assertion criteria telomere syndrome
p.Ile699Met No assertion criteria dyskeratosis congenita, autosomal recessive 5
p.Pro460Leu No assertion criteria dyskeratosis congenita, X-linked

Pathogenic/Likely pathogenic 40

c.1236_1266+47del Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2413+1G>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3109+1G>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3110-2A>T Multiple submitters dyskeratosis congenita
c.396-26C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.958+2dup Multiple submitters interstitial lung disease 2
p.Arg1264His Multiple submitters RTEL1-related disorder
p.Arg60Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg697Ter Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg733fs Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg743Ter Multiple submitters RTEL1-related disorder
p.Arg754Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg872Ter Multiple submitters RTEL1-related disorder
p.Arg879fs Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg986fs Multiple submitters Autosomal dominant RTEL1-related disorders
p.Arg986Ter Multiple submitters RTEL1-related disorder
p.Asn637fs Multiple submitters pulmonary fibrosis
p.Cys1244fs Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Cys934Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln1014Ter Multiple submitters dyskeratosis congenita
p.Gln1057Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln1088Ter Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln1187fs Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln217Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln374Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln801Ter Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Glu1020Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu885Ter Multiple submitters RTEL1-related disorder
p.Glu941Ter Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu981fs Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ile329fs Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Leu1112fs Multiple submitters dyskeratosis congenita
p.Leu938fs Multiple submitters dyskeratosis congenita
p.Met492Ile Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Phe1184fs Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Phe299fs Multiple submitters RTEL1-related disorder
p.Pro980fs Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ser1047fs Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ser487fs Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ser863fs Multiple submitters dyskeratosis congenita, autosomal recessive 5

Likely pathogenic 116

c.1037+1G>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1192-2A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1596-1G>A Multiple submitters RTEL1-related disorder
c.2142-1G>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2265+1G>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2413+1G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2557-2A>G Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2992+2T>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3110-1G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3110-2A>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3500-1G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.478-2A>G Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.614+1G>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Pro107fs Multiple submitters dyskeratosis congenita
c.1191+1G>A Single submitter dyskeratosis congenita, autosomal recessive 5
c.1191+1G>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.1228_1266+39del Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1266+2T>G Single submitter dyskeratosis congenita, autosomal recessive 5
c.1348+1G>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1595_1595+8del Single submitter dyskeratosis congenita, autosomal recessive 5
c.1595+1G>A Single submitter dyskeratosis congenita, autosomal recessive 5
c.1596-1_1596delinsAA Single submitter dyskeratosis congenita, autosomal recessive 5
c.1637-24_1637del Single submitter dyskeratosis congenita, autosomal recessive 5
c.2026-1G>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2141+1G>A Single submitter dyskeratosis congenita
c.2141+1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.2142-1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.2266-2A>G Single submitter dyskeratosis congenita, autosomal recessive 5
c.2413+1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.2557-1G>A Single submitter dyskeratosis congenita, autosomal recessive 5
c.2653-1G>A Single submitter dyskeratosis congenita, autosomal recessive 5
c.2653-3_2653-1del Single submitter dyskeratosis congenita, autosomal recessive 5
c.2782_2992+170del Single submitter dyskeratosis congenita, autosomal recessive 5
c.2851+1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.2852-1G>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2852-1G>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.2852-2A>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2992+1G>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2992+2T>C Single submitter dyskeratosis congenita
c.2992+492_3068del Single submitter dyskeratosis congenita, autosomal recessive 5
c.301+1G>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.301+1G>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.302-1G>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.302-2A>G Single submitter dyskeratosis congenita, autosomal recessive 5
c.302-8_303del Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3109+1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.3109+2T>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.3109+2T>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3343+1G>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.3343+1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.3499+2T>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.395+1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.395+2T>G Single submitter dyskeratosis congenita, autosomal recessive 5
c.396-2A>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.396-59del Single submitter dyskeratosis congenita, autosomal recessive 5
c.396-74A>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.477+1G>A Single submitter dyskeratosis congenita, autosomal recessive 5
c.919+1G>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.919+2T>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.919+952_1192-509dup Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala101Thr Single submitter ⚠
p.Ala687fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala789fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala845fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala913fs Single submitter RTEL1-related disorder
p.Ala930fs Single submitter dyskeratosis congenita
p.Ala93fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Arg750fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Arg762fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Asp105fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Asp231Tyr Single submitter action myoclonus-renal failure syndrome
p.Asp266Gly Single submitter RTEL1-related disorder
p.Cys1268Arg Single submitter dyskeratosis congenita
p.Cys207fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln1024Ter Single submitter dyskeratosis congenita
p.Gln1044fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln1126Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln419fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln747fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln843Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln892Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gln970Ter Single submitter
p.Glu1151Ter Single submitter dyskeratosis congenita
p.Glu870Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Glu941fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gly1040fs Single submitter dyskeratosis congenita
p.Gly1137fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Gly1197fs Single submitter dyskeratosis congenita
p.Gly388Ter Single submitter RTEL1-related disorder
p.Gly936fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.His462fs Single submitter dyskeratosis congenita
p.Lys1087Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Lys422Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Met492Val Single submitter dyskeratosis congenita ⚠
p.Phe912fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ser182fs Single submitter dyskeratosis congenita
p.Ser274fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ser274Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Thr245fs Single submitter RTEL1-related disorder
p.Thr361fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Trp1217Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Trp727Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Tyr1140Ter Single submitter
p.Tyr953Ter Single submitter dyskeratosis congenita, autosomal recessive 5
p.Val1193fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Val552fs Single submitter dyskeratosis congenita, autosomal recessive 5
p.Val641Met Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
c.1722+1G>A No assertion criteria RTEL1-related disorder
c.2265+2T>A No assertion criteria dyskeratosis congenita, autosomal recessive 5
c.2414-2A>G No assertion criteria dyskeratosis congenita, autosomal recessive 5
c.2653-2A>C No assertion criteria dyskeratosis congenita, autosomal recessive 5
c.3109+1G>A No assertion criteria RTEL1-related disorder
p.Ser130fs No assertion criteria interstitial lung disease 2
p.Thr1036fs No assertion criteria dyskeratosis congenita, autosomal recessive 5
p.Tyr175Ter No assertion criteria dyskeratosis congenita, autosomal recessive 5
p.Tyr953fs No assertion criteria dyskeratosis congenita, autosomal recessive 5

Conflicting classifications of pathogenicity 120

c.102+17_102+18insTG Single submitter dyskeratosis congenita, autosomal recessive 5
c.103-13G>A Single submitter dyskeratosis congenita
c.1037+9C>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1191+14C>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1266+3_1266+80del Single submitter Inborn genetic diseases
c.1349-9G>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1482-8_1482-7inv Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1800+4G>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.2141+5G>A Single submitter dyskeratosis congenita, autosomal recessive 5
c.2142-7C>G Single submitter Inborn genetic diseases
c.2556+4C>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.2652+4C>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.2852-12C>T Single submitter dyskeratosis congenita
c.2852-9C>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.2992+1G>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.302-19C>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3343+8G>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.396-27T>C Single submitter dyskeratosis congenita, autosomal recessive 5
c.396-5A>C Single submitter RTEL1-related disorder
c.396-68C>T Single submitter Inborn genetic diseases
c.396-7C>T Single submitter dyskeratosis congenita, autosomal recessive 5
c.538+3A>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.539-6C>A Single submitter dyskeratosis congenita, autosomal recessive 5
c.901_919+72del Single submitter RTEL1-related disorder
c.958+3A>G Single submitter Inborn genetic diseases
p.Ala1013Thr Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala1062Thr Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala1085Thr Single submitter Inborn genetic diseases ⚠
p.Ala1249Thr Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ala1275= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala290Val Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala445Thr Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala76Val Single submitter Inborn genetic diseases ⚠
p.Ala845Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala891Thr Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala933Ser Single submitter Inborn genetic diseases ⚠
p.Arg1068His Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg1127= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg1138Trp Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg1152Ser Single submitter Inborn genetic diseases ⚠
p.Arg1264Cys Single submitter dyskeratosis congenita, autosomal recessive 5
p.Arg1271Gln Single submitter Inborn genetic diseases
p.Arg132= Single submitter dyskeratosis congenita, autosomal recessive 5
p.Arg432Trp Single submitter Inborn genetic diseases ⚠
p.Arg729Cys Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg828Gln Single submitter Inborn genetic diseases ⚠
p.Arg84Gln Single submitter Inborn genetic diseases ⚠
p.Arg957Trp Single submitter RTEL1-related disorder
p.Arg974Gln Single submitter Inborn genetic diseases ⚠
p.Arg979Gln Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg986Gln Single submitter RTEL1-related disorder ⚠
p.Arg989Gln Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg989Trp Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asn737Ser Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asn91= Single submitter Inborn genetic diseases
p.Asn947Ser Single submitter Inborn genetic diseases ⚠
p.Asp1261Glu Single submitter Inborn genetic diseases
p.Asp921His Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp942Asn Single submitter dyskeratosis congenita ⚠
p.Cys1244Arg Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Cys1268Ser Single submitter Inborn genetic diseases
p.Cys163= Single submitter Inborn genetic diseases
p.Gln397Glu Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln669Arg Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln680His Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln723= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln962Glu Single submitter Inborn genetic diseases ⚠
p.Glu665Lys Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu850Lys Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gly1236Arg Single submitter Inborn genetic diseases
p.Gly201Arg Single submitter RTEL1-related disorder ⚠
p.Gly770Arg Single submitter Inborn genetic diseases ⚠
p.His1021Gln Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.His1114Gln Single submitter Inborn genetic diseases ⚠
p.His204= Single submitter dyskeratosis congenita
p.His465Arg Single submitter Inborn genetic diseases ⚠
p.Ile222Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ile558Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Leu1092Phe Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Leu1096Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Lys319= Single submitter Inborn genetic diseases
p.Met320Thr Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Met582Leu Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Phe784= Single submitter dyskeratosis congenita, autosomal recessive 5
p.Phe964Leu Single submitter RTEL1-related disorder ⚠
p.Pro1002Leu Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Pro1031Ser Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Pro1141Leu Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Pro1146Leu Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Pro1234Ser Single submitter dyskeratosis congenita, autosomal recessive 5
p.Pro1254Leu Single submitter dyskeratosis congenita, autosomal recessive 5
p.Pro297Leu Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Pro82Leu Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Pro871Leu Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Pro937Leu Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Pro996His Single submitter dyskeratosis congenita ⚠
p.Ser1073Ala Single submitter Inborn genetic diseases ⚠
p.Ser1117Gly Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ser1205= Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ser368= Single submitter dyskeratosis congenita, autosomal recessive 5
p.Ser405Ala Single submitter Inborn genetic diseases ⚠
p.Ser597Gly Single submitter Inborn genetic diseases ⚠
p.Thr1000Met Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Thr1136Ser Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Thr287Ile Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Thr434Met Single submitter dyskeratosis congenita ⚠
p.Thr636Met Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Thr893Met Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Thr972Ile Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Thr997Ser Single submitter Inborn genetic diseases ⚠
p.Tyr111= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Val1008Leu Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Val1049Ala Single submitter Inborn genetic diseases ⚠
p.Val1155Met Single submitter Inborn genetic diseases ⚠
p.Val11Ile Single submitter Inborn genetic diseases ⚠
p.Val1252Met Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Val1291Ile Single submitter Inborn genetic diseases
p.Val402Ala Single submitter dyskeratosis congenita, autosomal recessive 5 ⚠
p.Val515Ile Single submitter Inborn genetic diseases ⚠
p.Val967Leu Single submitter dyskeratosis congenita ⚠

Benign 79

c.103-6G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1038-104G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1038-73T>C Multiple submitters
c.1038-74T>G Multiple submitters
c.1135+78G>A Multiple submitters
c.1191+227T>C Multiple submitters
c.1192-242T>G Multiple submitters
c.1192-246C>T Multiple submitters
c.1192-42G>T Multiple submitters
c.1349-135G>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1596-28T>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1596-9C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1636+29C>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1637-50A>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1801-166G>A Multiple submitters
c.2026-30C>T Multiple submitters
c.2556+59C>T Multiple submitters
c.2557-199C>T Multiple submitters
c.2653-151T>C Multiple submitters
c.2653-192C>T Multiple submitters
c.2992+180C>T Multiple submitters
c.2992+182A>T Multiple submitters
c.2992+191T>A Multiple submitters
c.2992+197T>A Multiple submitters
c.2992+203A>T Multiple submitters
c.2992+215T>A Multiple submitters
c.2992+221A>T Multiple submitters
c.2992+230T>A Multiple submitters
c.2992+37C>T Multiple submitters
c.302-85C>T Multiple submitters
c.3499+5G>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.395+164T>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.477+35C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.477+43G>A Multiple submitters
c.477+82G>A Multiple submitters
c.478-24C>T Multiple submitters
c.478-88T>C Multiple submitters
c.538+160A>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.614+124C>T Multiple submitters
c.615-149C>G Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.615-36G>A Multiple submitters
c.700-106G>T Multiple submitters
c.700-115G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.765+140G>C Multiple submitters
c.765+86G>C Multiple submitters
c.765+87G>T Multiple submitters
c.766-19G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.920-106T>C Multiple submitters
c.-59A>C Multiple submitters
p.Asp704= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln1042His Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu966Asp Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly293= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Phe928= Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.103-204G>A Single submitter
c.103-242T>C Single submitter
c.1037+140A>G Single submitter
c.1038-239C>T Single submitter
c.1191+266G>T Single submitter
c.1349-10dup Single submitter dyskeratosis congenita, autosomal recessive 5
c.1481+44_1481+45insTT Single submitter
c.1482-82_1482-80dup Single submitter
c.1879-4del Single submitter dyskeratosis congenita, autosomal recessive 5
c.2852-12del Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2992+179_2992+181del Single submitter
c.2992+179_2992+187del Single submitter
c.2992+185_2992+187del Single submitter
c.2992+185_2992+199del Single submitter
c.2992+215_2992+232del Single submitter
c.2992+254A>T Single submitter
c.2992+263A>T Single submitter
c.2992+266A>T Single submitter
c.3344-5del Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.395+232C>T Single submitter
c.614+10dup Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.700-287T>G Single submitter
c.765+204G>C Single submitter
p.Gly849Asp Single submitter
p.Gly890= Single submitter dyskeratosis congenita, autosomal recessive 5

Benign/Likely benign 57

c.1192-9del Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1267-17G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1348+20C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1349-14C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1349-17C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1481+18C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1482-10C>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1482-6G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1595+19G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1800+14C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2266-13dup Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2414-6C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2653-18C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2852-16G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2852-17C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2993-8_2993-6del Multiple submitters dyskeratosis congenita
c.301+15C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.301+7C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3110-17T>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3499+15T>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3823-14C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3823-5C>G Multiple submitters dyskeratosis congenita
c.395+12G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.396-37C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.958+18C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.959-10C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1013Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1059Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala716Thr Multiple submitters Inborn genetic diseases
p.Ala929Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg576His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg651= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg684Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asn124= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asn124Ser Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asn254= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp1017Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp664= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln1019Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln1187= Multiple submitters dyskeratosis congenita
p.Glu326= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu535= Multiple submitters dyskeratosis congenita
p.Glu771del Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gly340Ser Multiple submitters dyskeratosis congenita ⚠
p.Ile194= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Leu907= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Phe783= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Pro1034His Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Pro1141= Multiple submitters Inborn genetic diseases
p.Pro1297= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Pro848= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Pro992Leu Multiple submitters dyskeratosis congenita
p.Ser339= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ser815Ile Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ser925= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Thr1231= Multiple submitters dyskeratosis congenita
p.Thr1231Met Multiple submitters dyskeratosis congenita, autosomal recessive 5

Likely benign 1640

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

c.102+10A>G Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.102+9C>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.103-14C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.103-7C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1037+10G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1038-15T>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1038-6C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1135+11G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1136-11C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1136-12G>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1136-18C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1192-13C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1266+11C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1267-11G>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1267-6C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1348+6G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1349-10C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1349-13C>T Multiple submitters dyskeratosis congenita
c.1481+13C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1482-13T>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1482-7C>T Multiple submitters dyskeratosis congenita
c.1596-6C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1636+10C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1722+11C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1800+15G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1800+40G>A Multiple submitters
c.1800+8C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1801-15C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1801-210T>G Multiple submitters
c.1879-16C>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2025+11G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2025+16G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2025+8dup Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2026-15C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2026-20C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2142-15A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2142-5C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2265+13C>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2265+20G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2266-17C>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2413+15C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2413+9G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2414-10G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2414-15C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2556+14G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2556+20G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2557-26_2557-10del Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2652+10C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2652+13_2652+18del Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2652+19C>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2653-17G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2851+16G>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2851+19G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2852-15C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2852-20A>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2852-7T>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2992+11C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2992+146T>A Multiple submitters
c.2992+14C>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2992+14C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2992+162G>C Multiple submitters
c.2992+165G>C Multiple submitters
c.2992+206A>T Multiple submitters
c.2992+233A>T Multiple submitters
c.3109+9C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3110-18A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3343+16G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3343+8G>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3344-5C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3499+6G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3822+20A>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3822+8C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3823-12G>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.3823-8T>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.395+11C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.395+18A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.395+19del Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.395+8A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.396-18G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.396-6C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.477+10T>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.477+19G>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.477+20C>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.477+7T>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.539-17C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.700-20C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.700-7C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.765+10C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.766-194A>G Multiple submitters
c.919+17_919+107del Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.958+19G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.959-9G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1001= Multiple submitters Inborn genetic diseases
p.Ala101= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1011= Multiple submitters Inborn genetic diseases
p.Ala1067= Multiple submitters Inborn genetic diseases
p.Ala1074= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1082= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1085= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1100= Multiple submitters Inborn genetic diseases
p.Ala1101= Multiple submitters Inborn genetic diseases
p.Ala1154= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1195= Multiple submitters Inborn genetic diseases
p.Ala1214= Multiple submitters Inborn genetic diseases
p.Ala1240= Multiple submitters Inborn genetic diseases
p.Ala1259= Multiple submitters Inborn genetic diseases
p.Ala1267= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1281= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1285= Multiple submitters Inborn genetic diseases
p.Ala219= Multiple submitters Inborn genetic diseases
p.Ala237= Multiple submitters Inborn genetic diseases
p.Ala263= Multiple submitters Inborn genetic diseases
p.Ala380= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala387= Multiple submitters Inborn genetic diseases
p.Ala393= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala413= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala417= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala523= Multiple submitters Inborn genetic diseases
p.Ala528= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala575= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala604= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala607= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala611= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala617= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala621= Multiple submitters Inborn genetic diseases
p.Ala69= Multiple submitters Inborn genetic diseases
p.Ala694= Multiple submitters Inborn genetic diseases
p.Ala716= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala718= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala73= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala76= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala760= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala765= Multiple submitters Inborn genetic diseases
p.Ala809= Multiple submitters Inborn genetic diseases
p.Ala836= Multiple submitters Inborn genetic diseases
p.Ala845= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala891= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala896= Multiple submitters Inborn genetic diseases
p.Ala902= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala930= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala932= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala933= Multiple submitters Inborn genetic diseases
p.Ala94= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala990= Multiple submitters Inborn genetic diseases
p.Arg1026= Multiple submitters Inborn genetic diseases
p.Arg1032= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg1068= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg1115= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg1152= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg1162= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg1170= Multiple submitters Inborn genetic diseases
p.Arg1188= Multiple submitters Inborn genetic diseases
p.Arg1264= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg1271= Multiple submitters Inborn genetic diseases
p.Arg1277= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg1287= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg141= Multiple submitters Inborn genetic diseases
p.Arg170= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg235= Multiple submitters Inborn genetic diseases
p.Arg324= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg433= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg437= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg469= Multiple submitters Inborn genetic diseases
p.Arg473= Multiple submitters Inborn genetic diseases
p.Arg593= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg608= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg655= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg743= Multiple submitters Inborn genetic diseases
p.Arg762= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg787= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg828= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg832= Multiple submitters Inborn genetic diseases
p.Arg866= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg974= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg979= Multiple submitters Inborn genetic diseases
p.Arg986= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg987= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg989= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asn177= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asn502= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asn547= Multiple submitters Inborn genetic diseases
p.Asn637= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asn737= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asn911= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp1017= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp1038= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp1089= Multiple submitters Inborn genetic diseases
p.Asp1090= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp1091= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp1093= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp1109= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp12= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp1251= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp196= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp241= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp250= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp337= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp370= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp403= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp632= Multiple submitters Inborn genetic diseases
p.Asp635= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp65= Multiple submitters dyskeratosis congenita
p.Asp653= Multiple submitters Inborn genetic diseases
p.Asp736= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp744= Multiple submitters Inborn genetic diseases
p.Asp811= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp926= Multiple submitters Inborn genetic diseases
p.Asp942= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Asp98= Multiple submitters Inborn genetic diseases
p.Asp995= Multiple submitters Inborn genetic diseases
p.Cys1247= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Cys1257= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Cys1265= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Cys1268= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Cys1279= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Cys172= Multiple submitters Inborn genetic diseases
p.Cys364= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Cys457= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Cys51= Multiple submitters Inborn genetic diseases
p.Cys54= Multiple submitters Inborn genetic diseases
p.Cys623= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Cys968= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Cys976= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln1055= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln1057= Multiple submitters Inborn genetic diseases
p.Gln1149= Multiple submitters Inborn genetic diseases
p.Gln118= Multiple submitters Inborn genetic diseases
p.Gln1229= Multiple submitters Inborn genetic diseases
p.Gln1289= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln153= Multiple submitters Inborn genetic diseases
p.Gln218= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln703= Multiple submitters Inborn genetic diseases
p.Gln822= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln892= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln905= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln909= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln920= Multiple submitters Inborn genetic diseases
p.Gln963= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln988= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu1020= Multiple submitters Inborn genetic diseases
p.Glu1108= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu1144= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu1172= Multiple submitters Inborn genetic diseases
p.Glu154= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Glu285= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu350= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu466= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu501= Multiple submitters Inborn genetic diseases
p.Glu571= Multiple submitters Inborn genetic diseases
p.Glu591= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Glu629= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Glu819= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu823= Multiple submitters Inborn genetic diseases
p.Glu851= Multiple submitters Inborn genetic diseases
p.Glu886= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Glu906= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Glu941= Multiple submitters Inborn genetic diseases
p.Glu966= Multiple submitters Inborn genetic diseases
p.Gly1025= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gly1040= Multiple submitters Inborn genetic diseases
p.Gly1142= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly1147= Multiple submitters Inborn genetic diseases
p.Gly1191= Multiple submitters Inborn genetic diseases
p.Gly1194= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly1196= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly1211= Multiple submitters Inborn genetic diseases
p.Gly1222= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly1235= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gly1236= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly244= Multiple submitters Inborn genetic diseases
p.Gly307= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly336= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly38= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly414= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly416= Multiple submitters Inborn genetic diseases
p.Gly471= Multiple submitters Inborn genetic diseases
p.Gly514= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly519= Multiple submitters Inborn genetic diseases
p.Gly596= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly616= Multiple submitters Inborn genetic diseases
p.Gly630= Multiple submitters Inborn genetic diseases
p.Gly674= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly781= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly805= Multiple submitters Inborn genetic diseases
p.Gly849= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gly936= Multiple submitters Inborn genetic diseases
p.Gly951= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gly973= Multiple submitters Inborn genetic diseases
p.Gly975= Multiple submitters Inborn genetic diseases
p.Gly977= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.His1021= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.His1028= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.His1058= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.His1210= Multiple submitters Inborn genetic diseases
p.His1221= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.His157= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.His161= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.His238= Multiple submitters Inborn genetic diseases
p.His270= Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.His375= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Uncertain significance 1999

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

c.1266+3A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.1596-8G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1636+5G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.1722+3G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2413+5G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.2414-14G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.2851+4C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.301+3G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.3109+5C>T Multiple submitters dyskeratosis congenita
c.3823-13G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
c.396-31C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.396-43T>C Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.396-78A>G Multiple submitters
c.765+4A>G Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.919+4C>T Multiple submitters dyskeratosis congenita, autosomal recessive 5
c.919+5G>A Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1011Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala1012Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1052Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1059Ser Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1062Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1067Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala1074Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1082Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1082Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1085Ser Multiple submitters RTEL1-related disorder ⚠
p.Ala1085Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1101Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1105Glu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1105Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala112Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala112Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1154Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1163Ser Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1163Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala1190Val Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala1214Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala1214Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala1226Ser Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1233Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1240Pro Multiple submitters Inborn genetic diseases
p.Ala1275Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala1275Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1275Val Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1281Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala1285Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Ala168Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala188Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala188Val Multiple submitters Inborn genetic diseases ⚠
p.Ala232Val Multiple submitters Inborn genetic diseases ⚠
p.Ala237Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala289Ser Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala301Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala301Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala328Asp Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala328Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala328Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala328Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala353Val Multiple submitters Inborn genetic diseases ⚠
p.Ala387Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala393Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala417Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala417Val Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala429Val Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala440Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala611Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala617Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala621Val Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala687Val Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala718Pro Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala720Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala722Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala73Ser Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala758Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala760Pro Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala760Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala773Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala808Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala827Val Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala836Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala837Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala837Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala837Val Multiple submitters Inborn genetic diseases ⚠
p.Ala868Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala889Pro Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala896Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala902Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala910Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala918Val Multiple submitters Inborn genetic diseases ⚠
p.Ala92Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala92Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala930Thr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Ala930Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala933Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Ala95_Ala96dup Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Ala990Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala990Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg1026Met Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg1068Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg1115Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1121Cys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg1121His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg1127Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg1127His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg1138Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1152Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg1170Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg1170Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1186Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg1186Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1271Trp Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Arg1277Ser Multiple submitters Inborn genetic diseases
p.Arg127Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg127Trp Multiple submitters Inborn genetic diseases
p.Arg132Trp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg141Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg141Leu Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg164His Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg170Cys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg205Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg213Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg213Trp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg235Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg235His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg324Cys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg379Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg432Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg437Pro Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg437Trp Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg469Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg469His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg469Leu Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg473Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg473His Multiple submitters Inborn genetic diseases ⚠
p.Arg574Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg574Pro Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg574Trp Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg60Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg624Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg639Cys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg64Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg651Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg651His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg655Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg684Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg697Leu Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg700Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg702His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg70Cys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg70Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg70Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg729His Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg750Cys Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Arg754Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg754Leu Multiple submitters dyskeratosis congenita ⚠
p.Arg762Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg762Trp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg769Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg769His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg802Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg828Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg828Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg832Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg844Trp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg84Pro Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg84Trp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg872Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg875Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg879Leu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg879Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg879Trp Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg895Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg895Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg895Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg895Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg957Gln Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg979Trp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Arg987Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg987Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg989Pro Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg999Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Arg999Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn214Tyr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asn227Ser Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asn239Asp Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asn239Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asn637Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn737Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn91Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn91Ile Multiple submitters Inborn genetic diseases ⚠
p.Asp1003Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp1017Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1066Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp1090Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1091Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1093Asn Multiple submitters RTEL1-related disorder ⚠
p.Asp1224Glu Multiple submitters Inborn genetic diseases
p.Asp1251Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Asp220Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp231Glu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asp231Val Multiple submitters Inborn genetic diseases ⚠
p.Asp241Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp302Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp302Tyr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asp314Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp330Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp337Tyr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asp507Ala Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asp507Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asp577Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp653Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp653His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asp719Asn Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Asp793Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp793Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp811Tyr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp894Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp921Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp927Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp995Asn Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Asp995Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp995His Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Cys102Arg Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Cys1076Tyr Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Cys537Tyr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Cys817Arg Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Cys817Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys856Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys856Trp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Cys856Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys934Phe Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Cys934Ser Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Cys934Tyr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Cys968Ser Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln1014Glu Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln1015Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1019Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1044Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1088Glu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln1126Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1126Leu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln1149Pro Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln1178His Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln118His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln1228Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln1228His Multiple submitters Inborn genetic diseases
p.Gln1229Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
p.Gln1229His Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln1274Arg Multiple submitters Inborn genetic diseases
p.Gln1300His Multiple submitters dyskeratosis congenita, autosomal recessive 5
p.Gln153Arg Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln185Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln22Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln371Glu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln470His Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln493Glu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln493His Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln524Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln661Arg Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln675Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln680Leu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln77Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln843Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln905Glu Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln905His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln909Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln954Arg Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln962Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Gln970Arg Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Gln988Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu1020Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu1150Lys Multiple submitters RTEL1-related disorder ⚠
p.Glu1172Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu1198Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu125Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu142Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu149Asp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu180Asp Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu180Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu23Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu285Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu298Val Multiple submitters Inborn genetic diseases ⚠
p.Glu313Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu466Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu600Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu629Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu74Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu753Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu776Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu776Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu776Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu813Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu819Gly Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu823Asp Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu842Lys Multiple submitters dyskeratosis congenita, autosomal recessive 5 ⚠
p.Glu864Ala Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
p.Glu864Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu886Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu906Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu906Gln Multiple submitters Inborn genetic diseases ⚠