TINF2 — 646 ClinVar variants

All ClinVar germline TINF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 267 flagged for review →

13 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 30 Conflicting · 8 Benign · 13 Benign/Likely benign · 251 Likely benign · 318 Uncertain significance

Full TINF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 267

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 5

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

TINF2 p.Arg282Cys Pathogenic Multiple submitters
TINF2-related disorder
TINF2 p.Arg282His Pathogenic Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Lys280Glu Pathogenic Single submitter
dyskeratosis congenita, autosomal dominant 1
TINF2 p.Thr284Ala Likely pathogenic Single submitter
dyskeratosis congenita
TINF2 p.Thr284Pro Pathogenic No assertion criteria
dyskeratosis congenita, autosomal dominant 1

Predictors agree, ClinVar conflicts 10

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

TINF2 p.Ala436Val Conflicting Single submitter
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Arg256Gln Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Gln21Arg Conflicting Single submitter
dyskeratosis congenita, autosomal dominant 3
TINF2 p.His85Asp Conflicting Single submitter
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Ile311Thr Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Leu211Val Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Pro165Leu Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Pro438Ala Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Ser208Pro Conflicting Single submitter
Revesz syndrome
TINF2 p.Ser245Tyr Conflicting Single submitter
Revesz syndrome

Predictors lean, ClinVar uncertain 216

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 216

TINF2 p.Ala10Ser Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ala124Pro Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ala124Val Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ala323Val Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ala43Thr Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Arg105Ser Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Arg265Gln Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Arg266Gln Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Arg321Thr Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Arg365Gly Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Arg56His Uncertain significance Multiple submitters
TINF2-related disorder
TINF2 p.Asp207Glu Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Asp362His Uncertain significance Multiple submitters
Revesz syndrome
TINF2 p.Cys359Tyr Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Cys444Tyr Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Gln168Arg Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Glu308Gln Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Glu408Gln Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Gly243Glu Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.His239Pro Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ile93Thr Uncertain significance Multiple submitters
Revesz syndrome
TINF2 p.Leu135Phe Uncertain significance Multiple submitters
Revesz syndrome
TINF2 p.Leu227Phe Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Leu425Val Uncertain significance Multiple submitters
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
TINF2 p.Leu429Ile Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Leu429Val Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Lys101Arg Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Met361Val Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Pro214Ser Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Pro344Ser Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Pro370Ser Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Pro380Leu Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Pro430Arg Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Pro430Ser Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Pro430Thr Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Pro431Thr Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ser130Leu Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ser130Pro Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Val173Met Uncertain significance Multiple submitters
Revesz syndrome
TINF2 p.Val268Leu Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 1
TINF2 p.Val299Gly Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Val386Ile Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ala11Pro Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala129Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala145Thr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala146Thr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala167Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala188Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala226Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala273Asp Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala310Thr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala310Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala314Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala323Pro Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala339Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala436Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala77Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala7Pro Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ala7Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg13Cys Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg190Lys Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg190Thr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg224Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg267Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg276Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg338Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg33Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg445Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg445Lys Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg74Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Asn210Lys Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Asn229Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Asn355Ser Uncertain significance Single submitter
TINF2 p.Asn84His Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Asn84Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Asp315His Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Asp446Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Cys203Arg Uncertain significance Single submitter
Revesz syndrome
TINF2 p.Cys27Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Cys332Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Cys332Tyr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Cys356Tyr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Cys359Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Cys378Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Cys442Phe Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gln111His Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gln133His Uncertain significance Single submitter
TINF2 p.Gln157His Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gln21Glu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gln223Glu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gln403His Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gln72Leu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gln78Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu112Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu134Lys Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu202Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu216Asp Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu251Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu304Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu304Lys Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu342Ala Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu342Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu342Lys Uncertain significance Single submitter
TINF2 p.Glu354Lys Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu408Asp Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu411Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu427Gly Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly264Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly294Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly336Trp Uncertain significance Single submitter
TINF2 p.Gly337Arg Uncertain significance Single submitter
TINF2 p.Gly337Glu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly404Glu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly404Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly435Asp Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly73Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly73Asp Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Gly8Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His228Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His239Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His257Tyr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His309Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His309Leu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His434Asp Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His434Gln Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.His85Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ile300Met Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ile437Leu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ile437Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu108Phe Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu158Pro Uncertain significance Single submitter
TINF2 p.Leu200Phe Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu240Phe Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu253Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu316Val Uncertain significance Single submitter
TINF2 p.Leu340Pro Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu357Trp Uncertain significance Single submitter
TINF2 p.Leu364Met Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu366Ile Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu425Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu80Pro Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys106Glu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys233Glu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys302Asn Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys306Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys329Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys329Glu Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys341Asn Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys417Thr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys98Thr Uncertain significance Single submitter
dyskeratosis congenita

Predictors split 36

The independent predictors disagree with each other — read with care.

TINF2 p.Gly197Glu Uncertain significance Multiple submitters
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Ile389Lys Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Leu287Pro Likely pathogenic Multiple submitters
dyskeratosis congenita
TINF2 p.Phe152Ser Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Pro283Ser Pathogenic/Likely pathogenic Multiple submitters
TINF2-related disorder
TINF2 p.Pro88Thr Uncertain significance Multiple submitters
dyskeratosis congenita
TINF2 p.Ala99Pro Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Arg282Ser Pathogenic Single submitter
dyskeratosis congenita
TINF2 p.Arg74Trp Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Asp103His Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Glu281Lys Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Gly255Arg Uncertain significance Single submitter
TINF2 p.Ile389Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ile389Thr Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Ile70Thr Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Leu260Val Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Lys106Asn Conflicting Single submitter
Revesz syndrome
TINF2 p.Lys280Gln Conflicting Single submitter
dyskeratosis congenita
TINF2 p.Met196Ile Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Phe290Ser Likely pathogenic Single submitter
dyskeratosis congenita
TINF2 p.Pro165Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Pro283Leu Likely pathogenic Single submitter
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Pro289Ala Likely pathogenic Single submitter
dyskeratosis congenita, autosomal dominant 3
TINF2 p.Pro289Ser Likely pathogenic Single submitter
TINF2 p.Pro363Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Pro423Ser Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ser185Phe Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Ser186Phe Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Thr284Lys Uncertain significance Single submitter
TINF2 p.Thr416Pro Uncertain significance Single submitter
TINF2 p.Trp176Arg Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Trp76Arg Uncertain significance Single submitter
TINF2 p.Tyr139Cys Uncertain significance Single submitter
TINF2 p.Tyr428Ser Uncertain significance Single submitter
TINF2 p.Val23Ala Uncertain significance Single submitter
dyskeratosis congenita
TINF2 p.Val44Asp Uncertain significance Single submitter
dyskeratosis congenita

All TINF2 variants

Pathogenic 13

p.Arg282Cys Multiple submitters TINF2-related disorder ⚠
p.Arg282His Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Arg282Ser Single submitter dyskeratosis congenita ⚠
p.Lys280Glu Single submitter dyskeratosis congenita, autosomal dominant 1 ⚠
p.Thr284fs Single submitter dyskeratosis congenita
p.Trp272Ter Single submitter dyskeratosis congenita
p.Arg276fs No assertion criteria dyskeratosis congenita, autosomal dominant 3
p.Gln269Ter No assertion criteria dyskeratosis congenita, autosomal dominant 3
p.Gln271Ter No assertion criteria dyskeratosis congenita, autosomal dominant 3
p.Lys280fs No assertion criteria Revesz syndrome
p.Met1Val No assertion criteria Long telomere syndrome
p.Thr284Pro No assertion criteria dyskeratosis congenita, autosomal dominant 1 ⚠
p.Trp198fs No assertion criteria Long telomere syndrome

Pathogenic/Likely pathogenic 1

p.Pro283Ser Multiple submitters TINF2-related disorder ⚠

Likely pathogenic 12

p.Leu287Pro Multiple submitters dyskeratosis congenita ⚠
c.399+1G>A Single submitter
p.Ala349fs Single submitter
p.Gly294fs Single submitter TINF2-related disorder
p.Leu5fs Single submitter dyskeratosis congenita, autosomal dominant 3
p.Met286fs Single submitter TINF2-related disorder
p.Phe290Ser Single submitter dyskeratosis congenita ⚠
p.Pro283Leu Single submitter dyskeratosis congenita, autosomal dominant 3 ⚠
p.Pro289Ala Single submitter dyskeratosis congenita, autosomal dominant 3 ⚠
p.Pro289Ser Single submitter ⚠
p.Ser208Ter Single submitter
p.Thr284Ala Single submitter dyskeratosis congenita ⚠

Conflicting classifications of pathogenicity 30

c.1061+4_1061+7del Single submitter dyskeratosis congenita, autosomal dominant 3
c.1221+3G>C Single submitter dyskeratosis congenita
c.1222-11del Single submitter dyskeratosis congenita
c.297+13C>T Single submitter dyskeratosis congenita
c.400-5del Single submitter dyskeratosis congenita
c.507+5C>T Single submitter Revesz syndrome
c.507+6G>A Single submitter dyskeratosis congenita
p.Ala10= Single submitter Revesz syndrome
p.Ala436Val Single submitter dyskeratosis congenita, autosomal dominant 3 ⚠
p.Arg256Gln Single submitter dyskeratosis congenita ⚠
p.Arg265Ter Single submitter TINF2-related disorder
p.Arg266Ter Single submitter dyskeratosis congenita
p.Asp358= Single submitter Revesz syndrome
p.Gln21Arg Single submitter dyskeratosis congenita, autosomal dominant 3 ⚠
p.Glu281Lys Single submitter dyskeratosis congenita ⚠
p.His85Asp Single submitter dyskeratosis congenita, autosomal dominant 3 ⚠
p.Ile311Thr Single submitter dyskeratosis congenita ⚠
p.Ile389Thr Single submitter dyskeratosis congenita ⚠
p.Leu211Val Single submitter dyskeratosis congenita ⚠
p.Leu364fs Single submitter dyskeratosis congenita
p.Lys106Asn Single submitter Revesz syndrome ⚠
p.Lys280Gln Single submitter dyskeratosis congenita ⚠
p.Lys329Ter Single submitter dyskeratosis congenita
p.Lys62= Single submitter dyskeratosis congenita
p.Pro165Leu Single submitter dyskeratosis congenita ⚠
p.Pro438Ala Single submitter dyskeratosis congenita ⚠
p.Ser208Pro Single submitter Revesz syndrome ⚠
p.Ser245Tyr Single submitter Revesz syndrome ⚠
p.Ser385= Single submitter dyskeratosis congenita
p.Tyr312Ter Single submitter dyskeratosis congenita, autosomal dominant 1

Benign 8

c.399+61del Multiple submitters
c.400-20_400-18dup Multiple submitters dyskeratosis congenita
p.Gly237Asp Multiple submitters dyskeratosis congenita
p.Pro380= Multiple submitters dyskeratosis congenita
c.399+47dup Single submitter
c.399+60_399+61del Single submitter
c.605-4del Single submitter dyskeratosis congenita
c.*91T>C Single submitter dyskeratosis congenita, autosomal dominant 3

Benign/Likely benign 13

c.1129+15T>A Multiple submitters dyskeratosis congenita
c.1129+48_1129+50dup Multiple submitters
c.297+45G>A Multiple submitters
c.400-9C>T Multiple submitters dyskeratosis congenita
p.Asn412= Multiple submitters dyskeratosis congenita, autosomal dominant 3
p.Gln120Arg Multiple submitters dyskeratosis congenita, autosomal dominant 3
p.His257= Multiple submitters dyskeratosis congenita, autosomal dominant 3
p.Leu364= Multiple submitters dyskeratosis congenita, autosomal dominant 3
p.Lys353= Multiple submitters dyskeratosis congenita
p.Pro236Ser Multiple submitters dyskeratosis congenita
p.Pro241Ser Multiple submitters dyskeratosis congenita
p.Thr164= Multiple submitters dyskeratosis congenita
c.*33C>T Single submitter dyskeratosis congenita, autosomal dominant 3

Likely benign 251

c.1061+14A>G Multiple submitters dyskeratosis congenita
c.1130-11C>T Multiple submitters dyskeratosis congenita
c.192+6G>A Multiple submitters
c.399+46del Multiple submitters
c.507+14A>G Multiple submitters dyskeratosis congenita
c.507+20T>C Multiple submitters dyskeratosis congenita
c.508-19C>T Multiple submitters dyskeratosis congenita
c.605-41C>T Multiple submitters
p.Ala188= Multiple submitters dyskeratosis congenita
p.Ala261= Multiple submitters dyskeratosis congenita
p.Ala273= Multiple submitters dyskeratosis congenita
p.Ala310= Multiple submitters dyskeratosis congenita
p.Ala349= Multiple submitters dyskeratosis congenita
p.Ala43= Multiple submitters dyskeratosis congenita
p.Ala77= Multiple submitters dyskeratosis congenita
p.Arg105= Multiple submitters dyskeratosis congenita
p.Asn210= Multiple submitters dyskeratosis congenita
p.Asn343= Multiple submitters dyskeratosis congenita
p.Cys444= Multiple submitters dyskeratosis congenita
p.Gln137= Multiple submitters dyskeratosis congenita
p.Gln168= Multiple submitters dyskeratosis congenita
p.Gln271= Multiple submitters dyskeratosis congenita
p.Glu138= Multiple submitters dyskeratosis congenita
p.Glu153= Multiple submitters dyskeratosis congenita
p.Glu304= Multiple submitters dyskeratosis congenita
p.Glu427= Multiple submitters dyskeratosis congenita
p.Gly255= Multiple submitters dyskeratosis congenita
p.Gly433= Multiple submitters dyskeratosis congenita
p.Gly435= Multiple submitters dyskeratosis congenita
p.His228= Multiple submitters dyskeratosis congenita
p.His249= Multiple submitters dyskeratosis congenita
p.His279= Multiple submitters dyskeratosis congenita
p.His434= Multiple submitters dyskeratosis congenita
p.His53= Multiple submitters dyskeratosis congenita
p.Ile70= Multiple submitters dyskeratosis congenita
p.Leu128= Multiple submitters dyskeratosis congenita
p.Leu132= Multiple submitters dyskeratosis congenita
p.Leu174= Multiple submitters dyskeratosis congenita
p.Leu199= Multiple submitters dyskeratosis congenita
p.Leu253= Multiple submitters dyskeratosis congenita
p.Leu263= Multiple submitters dyskeratosis congenita
p.Leu293= Multiple submitters dyskeratosis congenita
p.Leu316= Multiple submitters dyskeratosis congenita
p.Leu429= Multiple submitters dyskeratosis congenita
p.Leu451= Multiple submitters dyskeratosis congenita
p.Leu80= Multiple submitters dyskeratosis congenita
p.Lys149= Multiple submitters dyskeratosis congenita
p.Lys415= Multiple submitters dyskeratosis congenita
p.Lys98= Multiple submitters dyskeratosis congenita
p.Phe114= Multiple submitters dyskeratosis congenita
p.Phe87= Multiple submitters dyskeratosis congenita
p.Pro165= Multiple submitters dyskeratosis congenita
p.Pro230= Multiple submitters dyskeratosis congenita
p.Pro344= Multiple submitters dyskeratosis congenita
p.Pro423= Multiple submitters dyskeratosis congenita
p.Ser185= Multiple submitters dyskeratosis congenita
p.Ser328= Multiple submitters dyskeratosis congenita
p.Ser409= Multiple submitters dyskeratosis congenita
p.Thr297= Multiple submitters dyskeratosis congenita
p.Thr3= Multiple submitters dyskeratosis congenita
p.Tyr413= Multiple submitters dyskeratosis congenita
p.Tyr428= Multiple submitters dyskeratosis congenita
p.Val126= Multiple submitters dyskeratosis congenita
p.Val66= Multiple submitters dyskeratosis congenita
c.1061+26C>A Single submitter
c.1061+8_1061+9del Single submitter dyskeratosis congenita
c.1062-14_1062-11del Single submitter dyskeratosis congenita
c.1062-19_1062-18del Single submitter dyskeratosis congenita
c.1062-4T>G Single submitter dyskeratosis congenita
c.1062-5C>T Single submitter dyskeratosis congenita
c.1130-10C>T Single submitter dyskeratosis congenita
c.1130-15G>A Single submitter dyskeratosis congenita
c.1130-15G>T Single submitter
c.1130-7C>T Single submitter dyskeratosis congenita
c.1221+11del Single submitter dyskeratosis congenita
c.1221+14A>C Single submitter dyskeratosis congenita
c.1221+15G>A Single submitter dyskeratosis congenita
c.1222-19C>G Single submitter dyskeratosis congenita
c.1222-4A>T Single submitter dyskeratosis congenita
c.1222-5T>G Single submitter dyskeratosis congenita
c.193-29G>A Single submitter
c.193-33C>G Single submitter
c.193-7C>T Single submitter dyskeratosis congenita
c.297+10C>T Single submitter dyskeratosis congenita
c.297+14G>A Single submitter dyskeratosis congenita
c.297+18C>A Single submitter dyskeratosis congenita
c.297+18C>G Single submitter dyskeratosis congenita
c.298-10T>A Single submitter dyskeratosis congenita
c.298-15C>T Single submitter dyskeratosis congenita
c.298-19T>C Single submitter dyskeratosis congenita
c.399+12T>C Single submitter dyskeratosis congenita
c.399+32A>G Single submitter
c.399+47_399+54dup Single submitter
c.399+8T>C Single submitter dyskeratosis congenita
c.399+9G>A Single submitter dyskeratosis congenita
c.399+9G>C Single submitter dyskeratosis congenita
c.400-10C>T Single submitter dyskeratosis congenita
c.400-11C>G Single submitter dyskeratosis congenita
c.400-12C>T Single submitter dyskeratosis congenita
c.400-160T>C Single submitter
c.400-163_400-158dup Single submitter
c.400-17A>C Single submitter dyskeratosis congenita
c.400-4G>A Single submitter dyskeratosis congenita
c.400-6C>T Single submitter dyskeratosis congenita
c.507+13del Single submitter dyskeratosis congenita
c.507+19A>G Single submitter dyskeratosis congenita
c.507+31A>T Single submitter
c.508-10C>T Single submitter dyskeratosis congenita
c.508-15T>C Single submitter dyskeratosis congenita
c.508-18C>T Single submitter dyskeratosis congenita
c.508-42T>C Single submitter
c.604+10A>G Single submitter dyskeratosis congenita
c.604+13T>C Single submitter dyskeratosis congenita
c.604+15G>A Single submitter dyskeratosis congenita
c.605-17C>T Single submitter dyskeratosis congenita
c.605-19G>A Single submitter
c.605-20G>A Single submitter dyskeratosis congenita
p.Ala11= Single submitter dyskeratosis congenita
p.Ala145= Single submitter dyskeratosis congenita
p.Ala146= Single submitter dyskeratosis congenita
p.Ala15= Single submitter dyskeratosis congenita
p.Ala16= Single submitter dyskeratosis congenita
p.Ala17= Single submitter dyskeratosis congenita
p.Ala18= Single submitter dyskeratosis congenita
p.Ala2= Single submitter dyskeratosis congenita
p.Ala226= Single submitter dyskeratosis congenita
p.Ala234= Single submitter dyskeratosis congenita
p.Ala314= Single submitter dyskeratosis congenita
p.Ala317= Single submitter dyskeratosis congenita
p.Ala373= Single submitter dyskeratosis congenita
p.Ala436= Single submitter dyskeratosis congenita
p.Ala7= Single submitter dyskeratosis congenita
p.Arg13= Single submitter dyskeratosis congenita
p.Arg224= Single submitter dyskeratosis congenita
p.Arg247= Single submitter dyskeratosis congenita
p.Arg256= Single submitter dyskeratosis congenita
p.Arg267= Single submitter dyskeratosis congenita
p.Arg282= Single submitter dyskeratosis congenita
p.Arg338= Single submitter dyskeratosis congenita
p.Arg372= Single submitter dyskeratosis congenita
p.Arg374= Single submitter dyskeratosis congenita
p.Arg445= Single submitter dyskeratosis congenita
p.Asn259= Single submitter dyskeratosis congenita
p.Asn84= Single submitter dyskeratosis congenita
p.Asp207= Single submitter dyskeratosis congenita
p.Asp315= Single submitter dyskeratosis congenita
p.Asp346= Single submitter dyskeratosis congenita
p.Asp391= Single submitter dyskeratosis congenita
p.Asp395= Single submitter dyskeratosis congenita
p.Asp397= Single submitter dyskeratosis congenita
p.Asp443= Single submitter dyskeratosis congenita
p.Cys203= Single submitter dyskeratosis congenita
p.Cys27= Single submitter dyskeratosis congenita
p.Cys356= Single submitter dyskeratosis congenita
p.Gln102= Single submitter dyskeratosis congenita
p.Gln111= Single submitter dyskeratosis congenita
p.Gln120= Single submitter dyskeratosis congenita
p.Gln166= Single submitter dyskeratosis congenita
p.Gln178= Single submitter dyskeratosis congenita
p.Gln242= Single submitter
p.Gln269= Single submitter dyskeratosis congenita
p.Glu109= Single submitter dyskeratosis congenita
p.Glu112= Single submitter dyskeratosis congenita
p.Glu123= Single submitter dyskeratosis congenita
p.Glu281= Single submitter dyskeratosis congenita
p.Glu351= Single submitter dyskeratosis congenita
p.Glu399= Single submitter dyskeratosis congenita
p.Glu408= Single submitter dyskeratosis congenita
p.Glu411= Single submitter dyskeratosis congenita
p.Gly180= Single submitter dyskeratosis congenita
p.Gly237= Single submitter dyskeratosis congenita
p.Gly277= Single submitter dyskeratosis congenita
p.Gly294= Single submitter dyskeratosis congenita
p.Gly319= Single submitter dyskeratosis congenita
p.Gly337= Single submitter dyskeratosis congenita
p.Gly390= Single submitter dyskeratosis congenita
p.Gly433Arg Single submitter dyskeratosis congenita
p.His86= Single submitter dyskeratosis congenita
p.Ile389= Single submitter dyskeratosis congenita
p.Ile437= Single submitter dyskeratosis congenita
p.Leu108= Single submitter dyskeratosis congenita
p.Leu12= Single submitter dyskeratosis congenita
p.Leu121= Single submitter dyskeratosis congenita
p.Leu144= Single submitter dyskeratosis congenita
p.Leu150= Single submitter dyskeratosis congenita
p.Leu151= Single submitter dyskeratosis congenita
p.Leu211= Single submitter dyskeratosis congenita
p.Leu227= Single submitter dyskeratosis congenita
p.Leu287= Single submitter dyskeratosis congenita
p.Leu335= Single submitter dyskeratosis congenita
p.Leu368= Single submitter dyskeratosis congenita
p.Leu369= Single submitter dyskeratosis congenita
p.Leu410= Single submitter dyskeratosis congenita
p.Leu421= Single submitter dyskeratosis congenita
p.Leu71= Single submitter dyskeratosis congenita
p.Lys119= Single submitter dyskeratosis congenita
p.Lys131= Single submitter dyskeratosis congenita
p.Lys160= Single submitter dyskeratosis congenita
p.Lys341= Single submitter dyskeratosis congenita
p.Phe143= Single submitter dyskeratosis congenita
p.Phe258= Single submitter dyskeratosis congenita
p.Phe288= Single submitter dyskeratosis congenita
p.Pro125= Single submitter dyskeratosis congenita
p.Pro142= Single submitter dyskeratosis congenita
p.Pro214= Single submitter dyskeratosis congenita
p.Pro219= Single submitter dyskeratosis congenita
p.Pro262= Single submitter dyskeratosis congenita
p.Pro289= Single submitter dyskeratosis congenita
p.Pro296= Single submitter dyskeratosis congenita
p.Pro331= Single submitter dyskeratosis congenita
p.Pro371= Single submitter dyskeratosis congenita
p.Pro430= Single submitter dyskeratosis congenita
p.Pro431= Single submitter dyskeratosis congenita
p.Pro46= Single submitter dyskeratosis congenita
p.Pro75= Single submitter dyskeratosis congenita
p.Pro9= Single submitter dyskeratosis congenita
p.Ser122= Single submitter dyskeratosis congenita
p.Ser130= Single submitter dyskeratosis congenita
p.Ser175= Single submitter dyskeratosis congenita
p.Ser245= Single submitter dyskeratosis congenita
p.Ser274= Single submitter dyskeratosis congenita
p.Ser295= Single submitter dyskeratosis congenita
p.Ser305= Single submitter dyskeratosis congenita
p.Ser324= Single submitter dyskeratosis congenita
p.Ser367= Single submitter dyskeratosis congenita
p.Ser384= Single submitter dyskeratosis congenita
p.Ser396= Single submitter dyskeratosis congenita
p.Ser40= Single submitter dyskeratosis congenita
p.Ser432= Single submitter dyskeratosis congenita
p.Ser90= Single submitter dyskeratosis congenita
p.Ter452= Single submitter dyskeratosis congenita
p.Thr184= Single submitter dyskeratosis congenita
p.Thr238= Single submitter dyskeratosis congenita
p.Thr248= Single submitter dyskeratosis congenita
p.Thr248Met Single submitter dyskeratosis congenita
p.Thr284= Single submitter dyskeratosis congenita
p.Thr313= Single submitter dyskeratosis congenita
p.Thr320= Single submitter dyskeratosis congenita
p.Thr388= Single submitter dyskeratosis congenita
p.Thr424= Single submitter dyskeratosis congenita
p.Tyr115= Single submitter dyskeratosis congenita
p.Tyr139= Single submitter dyskeratosis congenita
p.Tyr154= Single submitter dyskeratosis congenita
p.Tyr312= Single submitter dyskeratosis congenita
p.Val173= Single submitter dyskeratosis congenita
p.Val194= Single submitter dyskeratosis congenita
p.Val205= Single submitter dyskeratosis congenita
p.Val299= Single submitter dyskeratosis congenita
p.Val345= Single submitter dyskeratosis congenita
p.Val6= Single submitter dyskeratosis congenita
p.Val94= Single submitter dyskeratosis congenita

Uncertain significance 318

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

c.1061+1G>T Multiple submitters dyskeratosis congenita
c.1123_1129+1del Multiple submitters dyskeratosis congenita
c.1130-1G>T Multiple submitters dyskeratosis congenita
p.Ala10Ser Multiple submitters dyskeratosis congenita ⚠
p.Ala124Pro Multiple submitters dyskeratosis congenita ⚠
p.Ala124Val Multiple submitters dyskeratosis congenita ⚠
p.Ala323Val Multiple submitters dyskeratosis congenita ⚠
p.Ala43Thr Multiple submitters dyskeratosis congenita ⚠
p.Arg105Ser Multiple submitters dyskeratosis congenita ⚠
p.Arg265Gln Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Arg266Gln Multiple submitters dyskeratosis congenita ⚠
p.Arg267del Multiple submitters dyskeratosis congenita
p.Arg321Thr Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Arg365Gly Multiple submitters dyskeratosis congenita ⚠
p.Arg56His Multiple submitters TINF2-related disorder ⚠
p.Asp207Glu Multiple submitters dyskeratosis congenita ⚠
p.Asp362His Multiple submitters Revesz syndrome ⚠
p.Cys359_Tyr360insLeuAspCys Multiple submitters dyskeratosis congenita
p.Cys359Tyr Multiple submitters dyskeratosis congenita ⚠
p.Cys444Tyr Multiple submitters dyskeratosis congenita ⚠
p.Gln168Arg Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Glu308Gln Multiple submitters dyskeratosis congenita ⚠
p.Glu408Gln Multiple submitters dyskeratosis congenita ⚠
p.Gly197Glu Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Gly243Glu Multiple submitters dyskeratosis congenita ⚠
p.Gly337fs Multiple submitters dyskeratosis congenita, autosomal dominant 3
p.His239Pro Multiple submitters dyskeratosis congenita ⚠
p.His86fs Multiple submitters dyskeratosis congenita
p.Ile389Lys Multiple submitters dyskeratosis congenita ⚠
p.Ile93Thr Multiple submitters Revesz syndrome ⚠
p.Leu135Phe Multiple submitters Revesz syndrome ⚠
p.Leu227Phe Multiple submitters dyskeratosis congenita ⚠
p.Leu425Val Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
p.Leu429Ile Multiple submitters dyskeratosis congenita ⚠
p.Leu429Val Multiple submitters dyskeratosis congenita ⚠
p.Lys101Arg Multiple submitters dyskeratosis congenita ⚠
p.Lys417Glu Multiple submitters dyskeratosis congenita
p.Met361Val Multiple submitters dyskeratosis congenita ⚠
p.Phe152Ser Multiple submitters dyskeratosis congenita ⚠
p.Pro214Ser Multiple submitters dyskeratosis congenita ⚠
p.Pro344Ser Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Pro370Ser Multiple submitters dyskeratosis congenita ⚠
p.Pro380Leu Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Pro430Arg Multiple submitters dyskeratosis congenita ⚠
p.Pro430Ser Multiple submitters dyskeratosis congenita ⚠
p.Pro430Thr Multiple submitters dyskeratosis congenita ⚠
p.Pro431Thr Multiple submitters dyskeratosis congenita ⚠
p.Pro88Thr Multiple submitters dyskeratosis congenita ⚠
p.Ser130Leu Multiple submitters dyskeratosis congenita ⚠
p.Ser130Pro Multiple submitters dyskeratosis congenita ⚠
p.Tyr360_Met361insAsnCysTyr Multiple submitters dyskeratosis congenita
p.Val173Met Multiple submitters Revesz syndrome ⚠
p.Val268Leu Multiple submitters dyskeratosis congenita, autosomal dominant 1 ⚠
p.Val299Gly Multiple submitters dyskeratosis congenita, autosomal dominant 3 ⚠
p.Val386Ile Multiple submitters dyskeratosis congenita ⚠
c.1062-15T>C Single submitter dyskeratosis congenita
c.1062-18T>C Single submitter dyskeratosis congenita
c.1062-2A>G Single submitter dyskeratosis congenita
c.1062-3C>T Single submitter dyskeratosis congenita
c.1130-12T>G Single submitter dyskeratosis congenita
c.1130-3_1130-2del Single submitter dyskeratosis congenita
c.1130-4A>T Single submitter dyskeratosis congenita
c.1221+1G>C Single submitter dyskeratosis congenita
c.1221+38G>A Single submitter dyskeratosis congenita, autosomal dominant 3
c.1221+5G>A Single submitter dyskeratosis congenita
c.1222-2A>G Single submitter dyskeratosis congenita
c.1222-3C>A Single submitter dyskeratosis congenita
c.1222-3C>T Single submitter dyskeratosis congenita
c.193-1G>A Single submitter
c.297+1G>A Single submitter dyskeratosis congenita
c.297+4A>G Single submitter dyskeratosis congenita
c.297+5G>A Single submitter dyskeratosis congenita
c.298-10_298-2del Single submitter dyskeratosis congenita
c.400-3T>C Single submitter dyskeratosis congenita
c.507+12G>A Single submitter dyskeratosis congenita
c.507+6G>T Single submitter dyskeratosis congenita
c.508-7C>T Single submitter
c.605-3C>T Single submitter dyskeratosis congenita
c.-277C>G Single submitter Revesz syndrome
c.*259GT[2] Single submitter dyskeratosis congenita, autosomal dominant 3
c.*53G>A Single submitter Revesz syndrome
p.Ala11Pro Single submitter dyskeratosis congenita ⚠
p.Ala129Val Single submitter dyskeratosis congenita ⚠
p.Ala145Thr Single submitter dyskeratosis congenita ⚠
p.Ala146Thr Single submitter dyskeratosis congenita ⚠
p.Ala15Pro Single submitter dyskeratosis congenita
p.Ala167Val Single submitter dyskeratosis congenita ⚠
p.Ala188Ser Single submitter dyskeratosis congenita ⚠
p.Ala226Gly Single submitter dyskeratosis congenita ⚠
p.Ala273Asp Single submitter dyskeratosis congenita ⚠
p.Ala310Thr Single submitter dyskeratosis congenita ⚠
p.Ala310Val Single submitter dyskeratosis congenita ⚠
p.Ala314Gly Single submitter dyskeratosis congenita ⚠
p.Ala323Pro Single submitter dyskeratosis congenita ⚠
p.Ala339Val Single submitter dyskeratosis congenita ⚠
p.Ala436Gly Single submitter dyskeratosis congenita ⚠
p.Ala77Val Single submitter dyskeratosis congenita ⚠
p.Ala7fs Single submitter dyskeratosis congenita
p.Ala7Pro Single submitter dyskeratosis congenita ⚠
p.Ala7Val Single submitter dyskeratosis congenita ⚠
p.Ala99Pro Single submitter dyskeratosis congenita ⚠
p.Arg13Cys Single submitter dyskeratosis congenita ⚠
p.Arg190Lys Single submitter dyskeratosis congenita ⚠
p.Arg190Thr Single submitter dyskeratosis congenita ⚠
p.Arg224Gly Single submitter dyskeratosis congenita ⚠
p.Arg256Ter Single submitter dyskeratosis congenita
p.Arg267Ser Single submitter dyskeratosis congenita ⚠
p.Arg276Ser Single submitter dyskeratosis congenita ⚠
p.Arg338fs Single submitter dyskeratosis congenita
p.Arg338Gly Single submitter dyskeratosis congenita ⚠
p.Arg33Gln Single submitter dyskeratosis congenita ⚠
p.Arg445Gly Single submitter dyskeratosis congenita ⚠
p.Arg445Lys Single submitter dyskeratosis congenita ⚠
p.Arg74Gln Single submitter dyskeratosis congenita ⚠
p.Arg74Trp Single submitter dyskeratosis congenita ⚠
p.Asn210Lys Single submitter dyskeratosis congenita ⚠
p.Asn229Ser Single submitter dyskeratosis congenita ⚠
p.Asn343fs Single submitter dyskeratosis congenita
p.Asn355Ser Single submitter ⚠
p.Asn401fs Single submitter
p.Asn84fs Single submitter
p.Asn84His Single submitter dyskeratosis congenita ⚠
p.Asn84Ser Single submitter dyskeratosis congenita ⚠
p.Asp103His Single submitter dyskeratosis congenita ⚠
p.Asp315His Single submitter dyskeratosis congenita ⚠
p.Asp391Asn Single submitter
p.Asp397del Single submitter dyskeratosis congenita
p.Asp446fs Single submitter Revesz syndrome
p.Asp446Val Single submitter dyskeratosis congenita ⚠
p.Cys156Arg Single submitter dyskeratosis congenita
p.Cys156Tyr Single submitter dyskeratosis congenita
p.Cys203Arg Single submitter Revesz syndrome ⚠
p.Cys27Arg Single submitter dyskeratosis congenita ⚠
p.Cys332Ser Single submitter dyskeratosis congenita ⚠
p.Cys332Tyr Single submitter dyskeratosis congenita ⚠
p.Cys356Tyr Single submitter dyskeratosis congenita ⚠
p.Cys359fs Single submitter dyskeratosis congenita
p.Cys359Ser Single submitter dyskeratosis congenita ⚠
p.Cys378Arg Single submitter dyskeratosis congenita ⚠
p.Cys442Phe Single submitter dyskeratosis congenita ⚠
p.Gln111His Single submitter dyskeratosis congenita ⚠
p.Gln133His Single submitter ⚠
p.Gln157His Single submitter dyskeratosis congenita ⚠
p.Gln21Glu Single submitter dyskeratosis congenita ⚠
p.Gln223Glu Single submitter dyskeratosis congenita ⚠
p.Gln298fs Single submitter
p.Gln403His Single submitter dyskeratosis congenita ⚠
p.Gln72Leu Single submitter dyskeratosis congenita ⚠
p.Gln78Arg Single submitter dyskeratosis congenita ⚠
p.Glu112Gln Single submitter dyskeratosis congenita ⚠
p.Glu134Lys Single submitter dyskeratosis congenita ⚠
p.Glu202fs Single submitter dyskeratosis congenita
p.Glu202Gln Single submitter dyskeratosis congenita ⚠
p.Glu216Asp Single submitter dyskeratosis congenita ⚠
p.Glu251Gln Single submitter dyskeratosis congenita ⚠
p.Glu304Gly Single submitter dyskeratosis congenita ⚠
p.Glu304Lys Single submitter dyskeratosis congenita ⚠
p.Glu307fs Single submitter dyskeratosis congenita
p.Glu308Ter Single submitter dyskeratosis congenita
p.Glu342Ala Single submitter dyskeratosis congenita ⚠
p.Glu342Gly Single submitter dyskeratosis congenita ⚠
p.Glu342Lys Single submitter ⚠
p.Glu354fs Single submitter dyskeratosis congenita
p.Glu354Lys Single submitter dyskeratosis congenita ⚠
p.Glu408Asp Single submitter dyskeratosis congenita ⚠
p.Glu411Gln Single submitter dyskeratosis congenita ⚠
p.Glu427Gly Single submitter dyskeratosis congenita ⚠
p.Gly255Arg Single submitter ⚠
p.Gly264Ser Single submitter dyskeratosis congenita ⚠
p.Gly294Ser Single submitter dyskeratosis congenita ⚠
p.Gly336Trp Single submitter ⚠
p.Gly337Arg Single submitter ⚠
p.Gly337Glu Single submitter dyskeratosis congenita ⚠
p.Gly337Ter Single submitter
p.Gly404Glu Single submitter dyskeratosis congenita ⚠
p.Gly404Val Single submitter dyskeratosis congenita ⚠
p.Gly435Asp Single submitter dyskeratosis congenita ⚠
p.Gly47fs Single submitter dyskeratosis congenita
p.Gly73Arg Single submitter dyskeratosis congenita ⚠
p.Gly73Asp Single submitter dyskeratosis congenita ⚠
p.Gly8Val Single submitter dyskeratosis congenita ⚠
p.His228Gln Single submitter dyskeratosis congenita ⚠
p.His239Gln Single submitter dyskeratosis congenita ⚠
p.His257Tyr Single submitter dyskeratosis congenita ⚠
p.His309Gln Single submitter dyskeratosis congenita ⚠
p.His309Leu Single submitter dyskeratosis congenita ⚠
p.His434Asp Single submitter dyskeratosis congenita ⚠
p.His434Gln Single submitter dyskeratosis congenita ⚠
p.His85Arg Single submitter dyskeratosis congenita ⚠
p.Ile300Met Single submitter dyskeratosis congenita ⚠
p.Ile389Arg Single submitter dyskeratosis congenita ⚠
p.Ile437Leu Single submitter dyskeratosis congenita ⚠
p.Ile437Val Single submitter dyskeratosis congenita ⚠
p.Ile70Thr Single submitter dyskeratosis congenita ⚠
p.Leu108Phe Single submitter dyskeratosis congenita ⚠
p.Leu158Pro Single submitter ⚠
p.Leu200Phe Single submitter dyskeratosis congenita ⚠
p.Leu240Phe Single submitter dyskeratosis congenita ⚠
p.Leu253Val Single submitter dyskeratosis congenita ⚠
p.Leu260Val Single submitter dyskeratosis congenita ⚠
p.Leu316Val Single submitter ⚠
p.Leu340Pro Single submitter dyskeratosis congenita ⚠
p.Leu357Trp Single submitter ⚠
p.Leu364Met Single submitter dyskeratosis congenita ⚠
p.Leu366Ile Single submitter dyskeratosis congenita ⚠
p.Leu410fs Single submitter
p.Leu425Arg Single submitter dyskeratosis congenita ⚠
p.Leu80Pro Single submitter dyskeratosis congenita ⚠
p.Leu83fs Single submitter
p.Lys106Glu Single submitter dyskeratosis congenita ⚠
p.Lys233Glu Single submitter dyskeratosis congenita ⚠
p.Lys302Asn Single submitter dyskeratosis congenita ⚠
p.Lys306Arg Single submitter dyskeratosis congenita ⚠
p.Lys329Arg Single submitter dyskeratosis congenita ⚠
p.Lys329Glu Single submitter dyskeratosis congenita ⚠
p.Lys341Asn Single submitter dyskeratosis congenita ⚠
p.Lys417Thr Single submitter dyskeratosis congenita ⚠
p.Lys98Thr Single submitter dyskeratosis congenita ⚠
p.Met147Thr Single submitter dyskeratosis congenita ⚠
p.Met177Arg Single submitter dyskeratosis congenita
p.Met177Leu Single submitter dyskeratosis congenita ⚠
p.Met196Ile Single submitter dyskeratosis congenita ⚠
p.Met196Val Single submitter dyskeratosis congenita ⚠
p.Met318Ile Single submitter dyskeratosis congenita ⚠
p.Met361Ile Single submitter dyskeratosis congenita ⚠
p.Met361Thr Single submitter ⚠
p.Phe114fs Single submitter dyskeratosis congenita
p.Phe14Cys Single submitter
p.Phe418Ser Single submitter dyskeratosis congenita
p.Pro142Arg Single submitter dyskeratosis congenita ⚠
p.Pro142His Single submitter dyskeratosis congenita ⚠
p.Pro163Ser Single submitter dyskeratosis congenita
p.Pro165_Ala167del Single submitter Revesz syndrome
p.Pro165Ser Single submitter dyskeratosis congenita ⚠
p.Pro214Thr Single submitter dyskeratosis congenita ⚠
p.Pro219His Single submitter ⚠
p.Pro220Leu Single submitter dyskeratosis congenita ⚠
p.Pro232Leu Single submitter dyskeratosis congenita ⚠
p.Pro236Leu Single submitter dyskeratosis congenita ⚠
p.Pro244Leu Single submitter dyskeratosis congenita ⚠
p.Pro250Arg Single submitter dyskeratosis congenita ⚠
p.Pro32Leu Single submitter dyskeratosis congenita ⚠
p.Pro363His Single submitter ⚠
p.Pro363Ser Single submitter dyskeratosis congenita ⚠
p.Pro370Leu Single submitter dyskeratosis congenita ⚠
p.Pro376= Single submitter dyskeratosis congenita
p.Pro379Arg Single submitter dyskeratosis congenita ⚠
p.Pro423Ser Single submitter dyskeratosis congenita ⚠
p.Pro430Ala Single submitter dyskeratosis congenita ⚠
p.Pro430Leu Single submitter dyskeratosis congenita ⚠
p.Pro431Ala Single submitter dyskeratosis congenita ⚠
p.Pro431Arg Single submitter dyskeratosis congenita ⚠
p.Pro431fs Single submitter dyskeratosis congenita
p.Pro431His Single submitter dyskeratosis congenita ⚠
p.Pro438Leu Single submitter dyskeratosis congenita ⚠
p.Pro450Leu Single submitter dyskeratosis congenita ⚠
p.Pro75Ser Single submitter dyskeratosis congenita ⚠
p.Pro92Ser Single submitter dyskeratosis congenita ⚠
p.Ser122Thr Single submitter dyskeratosis congenita ⚠
p.Ser130Trp Single submitter dyskeratosis congenita ⚠
p.Ser175Thr Single submitter dyskeratosis congenita ⚠
p.Ser185Phe Single submitter dyskeratosis congenita ⚠
p.Ser185Thr Single submitter dyskeratosis congenita ⚠
p.Ser186Phe Single submitter dyskeratosis congenita ⚠
p.Ser301Cys Single submitter dyskeratosis congenita ⚠
p.Ser301Phe Single submitter dyskeratosis congenita ⚠
p.Ser305Asn Single submitter dyskeratosis congenita ⚠
p.Ser305Gly Single submitter dyskeratosis congenita ⚠
p.Ser305Thr Single submitter dyskeratosis congenita ⚠
p.Ser384Asn Single submitter dyskeratosis congenita ⚠
p.Ser384Cys Single submitter dyskeratosis congenita ⚠
p.Ser409fs Single submitter dyskeratosis congenita
p.Ser409Phe Single submitter dyskeratosis congenita ⚠
p.Ser448Cys Single submitter dyskeratosis congenita ⚠
p.Ser448Phe Single submitter dyskeratosis congenita ⚠
p.Ser90Ala Single submitter dyskeratosis congenita, autosomal dominant 3 ⚠
p.Thr164Pro Single submitter dyskeratosis congenita ⚠
p.Thr206Ile Single submitter dyskeratosis congenita ⚠
p.Thr238fs Single submitter dyskeratosis congenita
p.Thr248Arg Single submitter dyskeratosis congenita ⚠
p.Thr275fs Single submitter dyskeratosis congenita
p.Thr275Pro Single submitter dyskeratosis congenita ⚠
p.Thr284Lys Single submitter ⚠
p.Thr313Ser Single submitter dyskeratosis congenita ⚠
p.Thr325Ile Single submitter dyskeratosis congenita, autosomal dominant 3 ⚠
p.Thr350Ala Single submitter dyskeratosis congenita ⚠
p.Thr388Ile Single submitter dyskeratosis congenita
p.Thr416Pro Single submitter ⚠
p.Thr420_Leu421insTer Single submitter
p.Thr424Ile Single submitter dyskeratosis congenita
p.Trp176Arg Single submitter dyskeratosis congenita ⚠
p.Trp189Cys Single submitter dyskeratosis congenita ⚠
p.Trp76Arg Single submitter ⚠
p.Trp76Ter Single submitter dyskeratosis congenita
p.Tyr115Cys Single submitter dyskeratosis congenita ⚠
p.Tyr139Asp Single submitter dyskeratosis congenita ⚠
p.Tyr139Cys Single submitter ⚠
p.Tyr312His Single submitter ⚠
p.Tyr360Cys Single submitter dyskeratosis congenita ⚠
p.Tyr413fs Single submitter dyskeratosis congenita, autosomal dominant 3