Sugi Variant

Sugi Variant/PARN

PARN — 961 ClinVar variants

All ClinVar germline PARN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 386 flagged for review →

39 Pathogenic · 9 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 22 Conflicting · 25 Benign · 14 Benign/Likely benign · 354 Likely benign · 455 Uncertain significance

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

⚑ Evidence disagreements 386

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.

Predictors agree, ClinVar conflicts 9

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 282

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 282

Predictors split 93

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

All PARN variants

Pathogenic 39

  • p.Gln177Ter Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Val318fs Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.177+1del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.246-2A>G Single submitter pulmonary fibrosis
  • p.Arg237_Tyr238insTer Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn420Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp103fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln17Ter Single submitter
  • p.Gln215Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln261Ter Single submitter pulmonary fibrosis
  • p.Gln332Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln375fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln472Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln507Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln542Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln549Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu139fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu189fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu455Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu511_Tyr512insTer Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile274Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Lys211_Leu212insTer Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Lys211fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Lys58Ter Single submitter
  • p.Lys95fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Lys9Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Phe355fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Phe419fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Phe8fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ser118fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ser167Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Ser271fs Single submitter
  • p.Ser309fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ser41fs Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Trp219Ter Single submitter pulmonary fibrosis
  • p.Trp526Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Tyr238Ter Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.962+295_1263-8706del No assertion criteria dyskeratosis congenita, autosomal recessive 6
  • p.Asn288fs No assertion criteria dyskeratosis congenita, autosomal recessive 6

Pathogenic/Likely pathogenic 9

  • c.1006-2A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1481-1G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.962+2T>C Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Arg128Ter Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Arg237Ter Multiple submitters PARN-related disorder
  • p.Asp292fs Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Gln375Ter Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Gln542fs Multiple submitters PARN-related disorder
  • p.Glu253fs Multiple submitters dyskeratosis congenita, autosomal recessive 6

Likely pathogenic 43

  • c.1405+1G>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.178-1G>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.784-1G>A Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1005+2T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1193-1G>C Single submitter PARN-related disorder
  • c.1193-2A>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1262+2T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1263-11_1269del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1263-1G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1318+2T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1319-2_1319del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1480+1G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1481-2A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1670+1G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1671-1G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.178-28T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.327+2T>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.328-2A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.555-1G>A Single submitter
  • c.555-2A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.620+1G>T Single submitter PARN-related disorder
  • c.620+48A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.620+5G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.703-1G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.783+2T>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.784-170_840+174del Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.841-2A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+5G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.97+2T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.98-2A>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.98-2A>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.991_1005+18del Single submitter
  • p.Ala383Val Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu262fs Single submitter PARN-related disorder
  • p.Glu585fs Single submitter PARN-related disorder
  • p.Lys125fs Single submitter PARN-related disorder
  • p.Lys59Arg Single submitter ⚠
  • p.Ser409fs Single submitter PARN-related disorder
  • p.Ser536_Lys537insTer Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Thr172fs Single submitter
  • p.Tyr369fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Glu189Ter No assertion criteria Familial Interstitial Pneumonia
  • p.Thr296fs No assertion criteria Familial Interstitial Pneumonia

Conflicting classifications of pathogenicity 22

  • c.1006-11G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1192+7A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1405+11A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.177+1G>A Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • c.178-10C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.178-3C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.620+19T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.659+4_659+7del Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.702+5C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala156Ser Single submitter primary ciliary dyskinesia 20 ⚠
  • p.Arg150Cys Single submitter PARN-related disorder ⚠
  • p.Arg349Trp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg444Cys Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Asn356Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn98Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp595Glu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu231Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Lys615Glu Single submitter Inborn genetic diseases ⚠
  • p.Ser625Leu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Thr206= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Tyr91Cys Single submitter PARN-related disorder ⚠
  • p.Val297Ile Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠

Benign 25

Benign/Likely benign 14

  • c.1006-12C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1006-5T>C Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1082-13T>A Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1192+4C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1263-8T>G Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.245+20G>A Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.840+6del Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.918+14T>C Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Gly581Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.His275= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Leu461= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Lys326= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Ser368Cys Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Ser587= Multiple submitters dyskeratosis congenita, autosomal recessive 6

Likely benign 354

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

  • c.1005+12T>C Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1081+16C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1193-8T>G Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1405+7C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1405+8G>A Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1406-8G>A Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1406-9C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1481-14dup Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1481-7C>T Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.19+11G>A Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.245+15C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.327+10A>G Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.328-138T>C Multiple submitters
  • c.389-15T>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.389-19T>C Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.389-8G>A Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.554+20C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.620+73A>G Multiple submitters
  • c.784-19T>C Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.840+16T>C Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.97+9C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Arg524= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Asn45= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Asp478= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.His377= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Leu440= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Leu464= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Lys606= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Phe115= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Phe180= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Pro488= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Pro629= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Ser151= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Ser459= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Ser625= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Thr85= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Val491= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.1005+10A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1005+11T>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1005+17A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1005+7T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1005+7T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1006-15C>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1006-4G>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1006-8G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1081+13A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1081+14A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1081+17G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1081+18G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1081+19A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1082-19T>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1082-20T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1082-6T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1082-9T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1192+10A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1192+12A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1192+14G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1192+19T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1192+9T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1193-12T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1193-14_1193-12del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1193-14C>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1193-15T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1193-16T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1193-17C>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1193-4T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1193-5A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1262+19C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1262+19C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1262+8A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1262+9T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1263-19T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1263-4G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1263-7C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1263-9T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1318+10T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1318+17T>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1318+261A>T Single submitter
  • c.1319-12T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1319-15A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1319-17A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1319-297dup Single submitter
  • c.1319-4G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1405+10A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1405+13T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1405+17G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1405+8G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1405+9C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1406-11T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1406-18T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1480+13G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1481-19T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1481-6T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1481-7C>A Single submitter
  • c.1481-8C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1670+11639C>G Single submitter
  • c.1670+12C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1670+13A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1670+17G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1670+18T>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1670+20A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1670+246del Single submitter
  • c.1671-17C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1671-18C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.177+11G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.177+15T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.177+16A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.177+20A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.177+9A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.178-20G>A Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.178-9C>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+11G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+14C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+19C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+19C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+20G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+20G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+7A>G Single submitter
  • c.1864+9T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1865-16T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1865-6C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1865-9del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1865-9T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.19+14_19+28del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.19+17C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.19+20C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.19+8T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-10T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-14C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-16T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-187C>T Single submitter
  • c.20-19C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-20T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-20T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-5C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-8C>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-8C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.245+15C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.245+19C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.245+20G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.245+8G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.246-18C>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.246-4C>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.246-4C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.246-5C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.246-6T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.246-8T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.327+14T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.327+15T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.327+7A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.328-10T>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.328-16G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.328-20T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.328-7G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.328-8dup Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.388+11G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.388+13G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.388+15A>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.388+186dup Single submitter
  • c.388+20A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.388+8T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.389-13A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.389-20C>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.389-9C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.554+16A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.554+173del Single submitter
  • c.554+19A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.555-14T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.555-17C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.555-6C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.555-8T>C Single submitter
  • c.620+14A>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.620+15A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.620+16C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.620+9T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.621-10_621-5del Single submitter
  • c.621-11T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.621-20C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.621-22_621-18del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.621-4A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.621-9T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.659+12T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.659+18A>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.659+19T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.660-10T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.660-11C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.660-256del Single submitter
  • c.660-3dup Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.660-9T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.702+10A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.702+13A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.702+17T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.702+18C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.702+20A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.703-11_703-10del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.703-13T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.703-15C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.703-160C>T Single submitter
  • c.703-18C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.703-208A>G Single submitter
  • c.703-216C>G Single submitter
  • c.703-223G>A Single submitter
  • c.703-6T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.703-7C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.783+11T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.783+15T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.783+9G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.784-14del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.784-15T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.784-16A>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.840+13G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.840+8A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.841-17A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.841-7T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.841-8T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+12G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+15G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+18C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+20G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+9C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.919-1794G>A Single submitter
  • c.919-20G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.919-6C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.919-9G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.962+12T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.962+16G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.962+9T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.963-18G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.963-19_963-3del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.97+16A>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.97+7del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.97+9_97+12del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.97+9C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.98-12C>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.98-14T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.98-18T>G Single submitter
  • c.98-5T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.-75C>A Single submitter
  • c.-81A>G Single submitter
  • p.Ala117= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala153= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala156= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala18= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala363= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala383= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala394= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala410= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala510= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala608= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Arg5= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Arg515= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn135= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn165= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn340= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn470= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn540= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn556= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn98= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp182= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp292= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp370= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp445= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp580= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp588= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Cys597= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln141= Single submitter
  • p.Gln254= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln441= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln573= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln68= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu137= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu148= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu228= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu310= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu455= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu617= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gly155= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gly157= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gly387= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gly70= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.His407= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.His446= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.His449= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile213= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile241= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile3= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile471= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu116= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Leu159= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Leu202= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu304= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu308= Single submitter
  • p.Leu322= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu346= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu397= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu401= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu414= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu433= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu591= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Leu66= Single submitter dyskeratosis congenita, autosomal recessive 6

Uncertain significance 455

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

  • c.178-5T>G Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.19+4C>T Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.244_245+6dup Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • c.245+3A>G Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Ala153Val Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala306= Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Ala306Val Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala344Val Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg128Gln Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg140Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg237Gln Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg249Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Arg249His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg252Thr Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg349Gln Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg426Lys Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg505Gln Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg505Trp Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg538Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg554Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg613Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Arg99Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn11Ser Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn165Ser Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn556Ser Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn7His Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp122His Multiple submitters PARN-related disorder ⚠
  • p.Asp190Gly Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp245Gly Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp370Gly Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp460Asn Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp477Gly Multiple submitters Inborn genetic diseases
  • p.Asp595Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln136Leu Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln215Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln472His Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu175Lys Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu246Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu263Gln Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu364Lys Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu378Lys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu52Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu590Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Gly120Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly130Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly157Glu Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly387Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly46Ser Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly584Glu Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.His275Asp Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.His287Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile285Val Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile391Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu308Phe Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu433Ile Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu433Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu578Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Lys105Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Lys14Glu Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Lys178Asn Multiple submitters ⚠
  • p.Lys359Glu Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Lys421Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Lys56Asn Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Lys612Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Lys82Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Met289Ile Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Met513Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met614Ile Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Met614Thr Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Phe64Leu Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Pro357Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Pro417Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ser100Tyr Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ser194Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser280= Multiple submitters Inborn genetic diseases
  • p.Ser280Leu Multiple submitters pulmonary fibrosis ⚠
  • p.Ser330Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser35Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser486Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ser498Asn Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ser562Gly Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ser6Arg Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Thr172Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr315Ala Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Thr331Ala Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Thr497Asn Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Thr49Ala Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Thr631Ala Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Thr85Met Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Tyr161Cys Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Tyr238His Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Tyr384Cys Multiple submitters dyskeratosis congenita, autosomal recessive 6
  • p.Tyr462Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Tyr546Cys Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Tyr552Cys Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Tyr76Cys Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Val240Ile Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Val427Ile Multiple submitters dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Val564Ala Multiple submitters Inborn genetic diseases ⚠
  • c.1081+3A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1081+6A>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1192+5G>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1262+3A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1262+4A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1262+6T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1405+3A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1670+4A>G Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.1670+5G>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.178-17T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+12A>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.1864+5G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.19+3G>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.20-1G>A Single submitter
  • c.245+10_245+34del Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.327+3A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.328-17T>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.328-9_328-8del Single submitter
  • c.388+6A>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.540_554+8dup Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.555-16T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.555-3C>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.620+3_620+4delinsAG Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.659+2dup Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.783+4A>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.783+4A>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.783+5T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.840+4A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.841-3T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+1G>T Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.918+4A>G Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.919-5T>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.97+6C>A Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.98-3T>C Single submitter dyskeratosis congenita, autosomal recessive 6
  • c.-102_-82dup Single submitter
  • c.-142G>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • c.-45C>T Single submitter
  • c.-67T>C Single submitter
  • p.Ala117Gly Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ala153Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala156Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala156Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala158Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala267Val Single submitter Inborn genetic diseases ⚠
  • p.Ala26Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala276Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala278Gly Single submitter ⚠
  • p.Ala372Thr Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Ala383Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala42Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala501Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala501Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala534Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala560Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ala576Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg150His Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg210Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg237Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg249Pro Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg251Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg252Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg349Leu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg426Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg444His Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg515Ile Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Arg538Trp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg554His Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg554Leu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg567Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg5del Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Arg605Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Arg99Lys Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Asn124Ser Single submitter Inborn genetic diseases
  • p.Asn135Asp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn197= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn340del Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn340Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn395= Single submitter
  • p.Asn45His Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn470_Gln472del Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asn496Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn550Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn568_Leu569delinsMet Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Asn568Asp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn627Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asn7Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp103Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp122Asn Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp245Asn Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp307Asn Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp36Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp429Asn Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp439Glu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp460His Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Asp478Gly Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Asp588Asn Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp588Tyr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp595Asn Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp637Glu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp63Glu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Asp80Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys108Phe Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Cys205Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys302Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Cys543Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Cys597Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln145Pro Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln177Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln17His Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln209Glu Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln254Leu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln261= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gln261Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln299Glu Single submitter ⚠
  • p.Gln472Pro Single submitter ⚠
  • p.Gln490Arg Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Gln542Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln55His Single submitter Inborn genetic diseases ⚠
  • p.Gln593His Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gln593Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu139Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu144_Gln145delinsAspLys Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • p.Glu189Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu196Ala Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu20Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu233Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu233Val Single submitter Inborn genetic diseases ⚠
  • p.Glu236Gly Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu236Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu248del Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu253Gln Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu260Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu263Leu Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Glu263Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu313Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu352Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu511Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu518Gln Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu51Gly Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu528Asp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu52Gln Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu533Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu585Ala Single submitter ⚠
  • p.Glu585Lys Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu599Gly Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Glu617Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Glu634Lys Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly207= Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Gly207Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly224Asp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly281Glu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly365Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly398Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly584Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Gly622Glu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.His13Arg Single submitter ⚠
  • p.His13Gln Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.His13Tyr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.His298Leu Single submitter Inborn genetic diseases ⚠
  • p.His407Asp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.His446Arg Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.His551Pro Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile113_Ser118del Single submitter
  • p.Ile113Asn Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile113Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile131Asn Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Ile131Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile181Met Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile19Met Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile19Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile213Thr Single submitter ⚠
  • p.Ile239Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile277Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile285Thr Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile385Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Ile391Thr Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile391Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile3Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile406Leu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile415Phe Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Ile415Thr Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile471Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Ile473Leu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile476Thr Single submitter dyskeratosis congenita, autosomal recessive 6
  • p.Ile506Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile522Met Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 ⚠
  • p.Ile544Leu Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile624Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Ile84Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu12His Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu12Phe Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu191Phe Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu200Phe Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu202Ile Single submitter ⚠
  • p.Leu212Pro Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu230Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu264Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu291Trp Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu304Val Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠
  • p.Leu322Phe Single submitter ⚠
  • p.Leu327Ser Single submitter dyskeratosis congenita, autosomal recessive 6 ⚠