DCLRE1B — 171 ClinVar variants
All ClinVar germline DCLRE1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
5 Pathogenic · 2 Conflicting · 17 Benign · 38 Likely benign · 109 Uncertain significance
Full DCLRE1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DCLRE1B p.Arg395Gln
Conflicting
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Val316Met
Conflicting
Single submitter
Hoyeraal-Hreidarsson syndrome
Predictors lean, ClinVar uncertain 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DCLRE1B p.Ala383Val
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Arg283His
Uncertain significance
Multiple submitters
Autosomal recessive dyskeratosis congenita
-
DCLRE1B p.Gln293His
Uncertain significance
Multiple submitters
Autosomal recessive dyskeratosis congenita
-
DCLRE1B p.Gln388Arg
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Gln419Arg
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Glu449Asp
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Glu76Gln
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Ile396Met
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Ser335Asn
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Ala132Pro
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Ala132Val Uncertain significance Single submitter
- DCLRE1B p.Ala21Pro Uncertain significance Single submitter
- DCLRE1B p.Ala383Thr Uncertain significance Single submitter
- DCLRE1B p.Ala469Thr Uncertain significance Single submitter
-
DCLRE1B p.Arg206Gln
Uncertain significance
Single submitter
Autosomal recessive dyskeratosis congenita
- DCLRE1B p.Arg20Gln Uncertain significance Single submitter
-
DCLRE1B p.Arg300Gln
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Arg300Trp Uncertain significance Single submitter
-
DCLRE1B p.Arg395Trp
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Arg448Trp Uncertain significance Single submitter
-
DCLRE1B p.Asp14Gly
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Asp321Asn
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Gln365Glu
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Gln87Arg
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Glu450Lys Uncertain significance Single submitter
- DCLRE1B p.Gly351Asp Uncertain significance Single submitter
-
DCLRE1B p.Gly454Arg
Uncertain significance
Single submitter
Autosomal recessive dyskeratosis congenita
-
DCLRE1B p.Gly478Val
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Gly480Cys Uncertain significance Single submitter
- DCLRE1B p.His172Tyr Uncertain significance Single submitter
-
DCLRE1B p.His230Arg
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.His33Leu Uncertain significance Single submitter
- DCLRE1B p.His392Tyr Uncertain significance Single submitter
- DCLRE1B p.His529Arg Uncertain significance Single submitter
- DCLRE1B p.Ile254Val Uncertain significance Single submitter
-
DCLRE1B p.Ile261Val
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Ile396Phe Uncertain significance Single submitter
-
DCLRE1B p.Ile85Val
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Leu26Arg
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Leu502Phe Uncertain significance Single submitter
- DCLRE1B p.Leu502Val Uncertain significance Single submitter
-
DCLRE1B p.Leu94Phe
Uncertain significance
Single submitter
Autosomal recessive dyskeratosis congenita
- DCLRE1B p.Lys129Arg Uncertain significance Single submitter
- DCLRE1B p.Met235Val Uncertain significance Single submitter
- DCLRE1B p.Met424Ile Uncertain significance Single submitter
- DCLRE1B p.Met477Ile Uncertain significance Single submitter
- DCLRE1B p.Phe112Ser Uncertain significance Single submitter
-
DCLRE1B p.Pro347Leu
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Pro389Ser Uncertain significance Single submitter
- DCLRE1B p.Pro393Ser Uncertain significance Single submitter
-
DCLRE1B p.Pro459Ala
Uncertain significance
Single submitter
Autosomal recessive dyskeratosis congenita
- DCLRE1B p.Pro482Ser Uncertain significance Single submitter
-
DCLRE1B p.Ser278Phe
Uncertain significance
Single submitter
Autosomal recessive dyskeratosis congenita
-
DCLRE1B p.Ser487Arg
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Thr114Ser
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Thr447Ser
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Thr507Ser
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Tyr326Phe Uncertain significance Single submitter
-
DCLRE1B p.Val353Ala
Uncertain significance
Single submitter
Autosomal recessive dyskeratosis congenita
- DCLRE1B p.Val353Leu Uncertain significance Single submitter
-
DCLRE1B p.Val413Ala
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Val422Leu Uncertain significance Single submitter
- DCLRE1B p.Arg25Ser Uncertain significance No assertion criteria
Predictors split 42
The independent predictors disagree with each other — read with care.
-
DCLRE1B p.Arg46Leu
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Arg46Trp
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Asp308Gly
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Cys149Trp
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Glu73Ala
Uncertain significance
Multiple submitters
DCLRE1B-related disorder
-
DCLRE1B p.Leu310Gln
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Ser315Cys
Uncertain significance
Multiple submitters
Autosomal recessive dyskeratosis congenita
-
DCLRE1B p.Ser418Phe
Uncertain significance
Multiple submitters
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Ala45Val Uncertain significance Single submitter
- DCLRE1B p.Arg122Gln Uncertain significance Single submitter
- DCLRE1B p.Arg158Gln Likely benign Single submitter
- DCLRE1B p.Arg170Gln Uncertain significance Single submitter
- DCLRE1B p.Arg19His Uncertain significance Single submitter
- DCLRE1B p.Arg228His Uncertain significance Single submitter
- DCLRE1B p.Arg346Ser Uncertain significance Single submitter
-
DCLRE1B p.Arg60Gly
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Asn146Asp Uncertain significance Single submitter
- DCLRE1B p.Asp233Asn Uncertain significance Single submitter
- DCLRE1B p.Asp83Asn Uncertain significance Single submitter
-
DCLRE1B p.Asp83Gly
Pathogenic
Single submitter
Fanconi anemia complementation group C
-
DCLRE1B p.Gln63Pro
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Gly75Ala Uncertain significance Single submitter
-
DCLRE1B p.His175Arg
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.His175Tyr Uncertain significance Single submitter
- DCLRE1B p.His269Pro Uncertain significance Single submitter
- DCLRE1B p.His59Pro Uncertain significance Single submitter
- DCLRE1B p.Leu128Val Uncertain significance Single submitter
- DCLRE1B p.Leu18Met Uncertain significance Single submitter
- DCLRE1B p.Leu385Ile Uncertain significance Single submitter
-
DCLRE1B p.Leu394Trp
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Pro317Arg
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Pro81Leu Uncertain significance Single submitter
-
DCLRE1B p.Ser126Phe
Uncertain significance
Single submitter
Autosomal recessive dyskeratosis congenita
- DCLRE1B p.Ser311Ile Uncertain significance Single submitter
-
DCLRE1B p.Thr251Met
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Thr426Met
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
- DCLRE1B p.Thr507Ile Uncertain significance Single submitter
- DCLRE1B p.Thr93Ile Uncertain significance Single submitter
- DCLRE1B p.Val232Ile Uncertain significance Single submitter
-
DCLRE1B p.Val298Ile
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Val4Ile
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
-
DCLRE1B p.Val92Ile
Uncertain significance
Single submitter
Hoyeraal-Hreidarsson syndrome
All DCLRE1B variants
Pathogenic 5
- p.Asp83Gly Single submitter Fanconi anemia complementation group C ⚠
- p.His269= Single submitter Fanconi anemia complementation group C
- p.Arg122Ter No assertion criteria dyskeratosis congenita, autosomal recessive 8
- p.Leu142Phe No assertion criteria dyskeratosis congenita, autosomal recessive 8
- p.Leu142Ser No assertion criteria dyskeratosis congenita, autosomal recessive 8
Conflicting classifications of pathogenicity 2
- p.Arg395Gln Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Val316Met Single submitter Hoyeraal-Hreidarsson syndrome ⚠
Benign 17
- c.355+46T>A Multiple submitters
- c.355+52T>A Multiple submitters
- c.355+73T>A Multiple submitters
- c.-12A>G Multiple submitters
- c.-330-177G>T Multiple submitters
- p.Asn510Tyr Multiple submitters Hoyeraal-Hreidarsson syndrome
- p.His61Tyr Multiple submitters Autosomal recessive dyskeratosis congenita
- p.His78= Multiple submitters Hoyeraal-Hreidarsson syndrome
- c.355+239G>A Single submitter
- c.355+73_355+74insTA Single submitter
- c.355+74A>T Single submitter
- c.355+75A>T Single submitter
- c.355+79A>T Single submitter
- c.538+151T>C Single submitter
- c.-331+281T>C Single submitter
- p.Asp462Asn Single submitter Hoyeraal-Hreidarsson syndrome
- p.His434= Single submitter Hoyeraal-Hreidarsson syndrome
Likely benign 38
- p.Gly478= Multiple submitters Hoyeraal-Hreidarsson syndrome
- c.189+197G>A Single submitter
- c.355+104C>T Single submitter
- c.355+74_355+75del Single submitter
- p.Ala162Thr Single submitter
- p.Ala194= Single submitter Autosomal recessive dyskeratosis congenita
- p.Ala383= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Ala45= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Arg158Gln Single submitter ⚠
- p.Arg244= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Arg283Cys Single submitter Hoyeraal-Hreidarsson syndrome
- p.Arg448= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Asn176= Single submitter Autosomal recessive dyskeratosis congenita
- p.His33= Single submitter Hoyeraal-Hreidarsson syndrome
- p.His485= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Leu144= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Leu216= Single submitter Autosomal recessive dyskeratosis congenita
- p.Leu483Pro Single submitter
- p.Leu5= Single submitter Autosomal recessive dyskeratosis congenita
- p.Leu500= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Pro173= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Pro320= Single submitter Autosomal recessive dyskeratosis congenita
- p.Pro357Leu Single submitter
- p.Pro456= Single submitter Autosomal recessive dyskeratosis congenita
- p.Pro81= Single submitter Autosomal recessive dyskeratosis congenita
- p.Ser280= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Ser331= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Ser379= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Ser51= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Thr251= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Thr257= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Thr37= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Thr91= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Thr93= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Val286= Single submitter Autosomal recessive dyskeratosis congenita
- p.Val4= Single submitter Hoyeraal-Hreidarsson syndrome
- p.Gly454= No assertion criteria DCLRE1B-related disorder
- p.Gly515= No assertion criteria DCLRE1B-related disorder
Uncertain significance 109
- p.Ala383Val Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Arg283His Multiple submitters Autosomal recessive dyskeratosis congenita ⚠
- p.Arg46Leu Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Arg46Trp Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Asp308Gly Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Cys149Trp Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Gln293His Multiple submitters Autosomal recessive dyskeratosis congenita ⚠
- p.Gln388Arg Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Gln419Arg Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Glu449Asp Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Glu73Ala Multiple submitters DCLRE1B-related disorder ⚠
- p.Glu76Gln Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Ile396Met Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Leu310Gln Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Ser315Cys Multiple submitters Autosomal recessive dyskeratosis congenita ⚠
- p.Ser335Asn Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- p.Ser418Phe Multiple submitters Hoyeraal-Hreidarsson syndrome ⚠
- c.190-3C>G Single submitter Hoyeraal-Hreidarsson syndrome
- p.Ala132Pro Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Ala132Val Single submitter ⚠
- p.Ala21Pro Single submitter ⚠
- p.Ala383Thr Single submitter ⚠
- p.Ala45Val Single submitter ⚠
- p.Ala469Thr Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg158Ter Single submitter Hoyeraal-Hreidarsson syndrome
- p.Arg170Gln Single submitter ⚠
- p.Arg170Ter Single submitter Autosomal recessive dyskeratosis congenita
- p.Arg19His Single submitter ⚠
- p.Arg206Gln Single submitter Autosomal recessive dyskeratosis congenita ⚠
- p.Arg20Gln Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg300Gln Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Arg300Trp Single submitter ⚠
- p.Arg346Ser Single submitter ⚠
- p.Arg395Trp Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Arg448Trp Single submitter ⚠
- p.Arg60Gly Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Asn146Asp Single submitter ⚠
- p.Asp14Gly Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Asp233Asn Single submitter ⚠
- p.Asp321Asn Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Asp83Asn Single submitter ⚠
- p.Gln365Glu Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Gln63Pro Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Gln87Arg Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Glu450Lys Single submitter ⚠
- p.Gly351Asp Single submitter ⚠
- p.Gly454Arg Single submitter Autosomal recessive dyskeratosis congenita ⚠
- p.Gly478Val Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Gly480Cys Single submitter ⚠
- p.Gly75Ala Single submitter ⚠
- p.His172Tyr Single submitter ⚠
- p.His175Arg Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.His175Tyr Single submitter ⚠
- p.His230Arg Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.His269Pro Single submitter ⚠
- p.His33Leu Single submitter ⚠
- p.His392Tyr Single submitter ⚠
- p.His529Arg Single submitter ⚠
- p.His59Pro Single submitter ⚠
- p.Ile254Val Single submitter ⚠
- p.Ile261Val Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Ile396Phe Single submitter ⚠
- p.Ile85Val Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Leu128Val Single submitter ⚠
- p.Leu18Met Single submitter ⚠
- p.Leu26Arg Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Leu385Ile Single submitter ⚠
- p.Leu394Trp Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Leu502Phe Single submitter ⚠
- p.Leu502Val Single submitter ⚠
- p.Leu94Phe Single submitter Autosomal recessive dyskeratosis congenita ⚠
- p.Lys129Arg Single submitter ⚠
- p.Met235Val Single submitter ⚠
- p.Met424Ile Single submitter ⚠
- p.Met477Ile Single submitter ⚠
- p.Phe112Ser Single submitter ⚠
- p.Phe28del Single submitter Hoyeraal-Hreidarsson syndrome
- p.Pro317Arg Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Pro347Leu Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Pro389Ser Single submitter ⚠
- p.Pro393Ser Single submitter ⚠
- p.Pro459Ala Single submitter Autosomal recessive dyskeratosis congenita ⚠
- p.Pro482Ser Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser126Phe Single submitter Autosomal recessive dyskeratosis congenita ⚠
- p.Ser278Phe Single submitter Autosomal recessive dyskeratosis congenita ⚠
- p.Ser311Ile Single submitter ⚠
- p.Ser486fs Single submitter Hoyeraal-Hreidarsson syndrome
- p.Ser487Arg Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Ter533Arg Single submitter Hoyeraal-Hreidarsson syndrome
- p.Thr114Ser Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Thr251Met Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Thr426Met Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Thr447Ser Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Thr507Ile Single submitter ⚠
- p.Thr507Ser Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Thr93Ile Single submitter ⚠
- p.Tyr326Phe Single submitter ⚠
- p.Val232Ile Single submitter ⚠
- p.Val298Ile Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Val353Ala Single submitter Autosomal recessive dyskeratosis congenita ⚠
- p.Val353Leu Single submitter ⚠
- p.Val413Ala Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Val422Leu Single submitter ⚠
- p.Val4Ile Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Val92Ile Single submitter Hoyeraal-Hreidarsson syndrome ⚠
- p.Arg25Ser No assertion criteria ⚠