ZCCHC8 — 481 ClinVar variants
All ClinVar germline ZCCHC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 10 Conflicting · 6 Benign · 7 Benign/Likely benign · 173 Likely benign · 281 Uncertain significance
Full ZCCHC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 257
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.
-
ZCCHC8 p.Ser597Phe
Likely pathogenic
Single submitter
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ZCCHC8 p.Ala47Val Conflicting Single submitter
- ZCCHC8 p.Ala593Ser Conflicting Single submitter
- ZCCHC8 p.Arg477Trp Conflicting Single submitter
- ZCCHC8 p.Asp87Asn Conflicting Single submitter
- ZCCHC8 p.Gln502Pro Conflicting Single submitter
-
ZCCHC8 p.Glu66Lys
Conflicting
Single submitter
inherited aplastic anemia
- ZCCHC8 p.Thr577Met Conflicting Single submitter
- ZCCHC8 p.Thr668Ala Conflicting Single submitter
- ZCCHC8 p.Val348Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 202
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 202
- ZCCHC8 p.Ala392Ser Uncertain significance Multiple submitters
- ZCCHC8 p.Ala409Glu Uncertain significance Multiple submitters
- ZCCHC8 p.Ala409Val Uncertain significance Multiple submitters
- ZCCHC8 p.Ala442Val Uncertain significance Multiple submitters
- ZCCHC8 p.Ala47Ser Uncertain significance Multiple submitters
- ZCCHC8 p.Ala514Thr Uncertain significance Multiple submitters
- ZCCHC8 p.Arg312Trp Uncertain significance Multiple submitters
- ZCCHC8 p.Arg314His Uncertain significance Multiple submitters
- ZCCHC8 p.Arg477Gly Uncertain significance Multiple submitters
- ZCCHC8 p.Arg526Gln Uncertain significance Multiple submitters
- ZCCHC8 p.Asn626Lys Uncertain significance Multiple submitters
- ZCCHC8 p.Asp447Asn Uncertain significance Multiple submitters
- ZCCHC8 p.Asp540Asn Uncertain significance Multiple submitters
- ZCCHC8 p.Asp542Asn Uncertain significance Multiple submitters
-
ZCCHC8 p.Gln457Leu
Uncertain significance
Multiple submitters
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- ZCCHC8 p.Gln68Arg Uncertain significance Multiple submitters
- ZCCHC8 p.Glu20Lys Uncertain significance Multiple submitters
- ZCCHC8 p.Glu39Lys Uncertain significance Multiple submitters
- ZCCHC8 p.Glu460Gly Uncertain significance Multiple submitters
- ZCCHC8 p.Glu460Lys Uncertain significance Multiple submitters
- ZCCHC8 p.Glu535Gly Uncertain significance Multiple submitters
- ZCCHC8 p.Glu620Asp Uncertain significance Multiple submitters
- ZCCHC8 p.Gly439Arg Uncertain significance Multiple submitters
- ZCCHC8 p.Gly627Val Uncertain significance Multiple submitters
- ZCCHC8 p.Leu10Ile Uncertain significance Multiple submitters
- ZCCHC8 p.Leu84Trp Uncertain significance Multiple submitters
- ZCCHC8 p.Lys152Glu Uncertain significance Multiple submitters
- ZCCHC8 p.Lys304Gln Uncertain significance Multiple submitters
- ZCCHC8 p.Lys32Thr Uncertain significance Multiple submitters
- ZCCHC8 p.Lys590Asn Uncertain significance Multiple submitters
- ZCCHC8 p.Met244Thr Uncertain significance Multiple submitters
- ZCCHC8 p.Met450Thr Uncertain significance Multiple submitters
- ZCCHC8 p.Pro142Leu Uncertain significance Multiple submitters
- ZCCHC8 p.Pro24Leu Uncertain significance Multiple submitters
- ZCCHC8 p.Pro26Ser Uncertain significance Multiple submitters
- ZCCHC8 p.Pro470Ala Uncertain significance Multiple submitters
- ZCCHC8 p.Pro566Leu Uncertain significance Multiple submitters
- ZCCHC8 p.Ser331Leu Uncertain significance Multiple submitters
- ZCCHC8 p.Ser556Thr Uncertain significance Multiple submitters
-
ZCCHC8 p.Thr496Ile
Uncertain significance
Multiple submitters
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- ZCCHC8 p.Val116Ile Uncertain significance Multiple submitters
- ZCCHC8 p.Val279Leu Uncertain significance Multiple submitters
- ZCCHC8 p.Val290Ile Uncertain significance Multiple submitters
- ZCCHC8 p.Val537Ile Uncertain significance Multiple submitters
- ZCCHC8 p.Ala103Val Uncertain significance Single submitter
- ZCCHC8 p.Ala222Thr Uncertain significance Single submitter
- ZCCHC8 p.Ala249Thr Uncertain significance Single submitter
- ZCCHC8 p.Ala276Thr Uncertain significance Single submitter
- ZCCHC8 p.Ala392Gly Uncertain significance Single submitter
- ZCCHC8 p.Ala438Val Uncertain significance Single submitter
- ZCCHC8 p.Ala442Thr Uncertain significance Single submitter
- ZCCHC8 p.Ala506Val Uncertain significance Single submitter
- ZCCHC8 p.Ala612Glu Uncertain significance Single submitter
- ZCCHC8 p.Ala615Pro Uncertain significance Single submitter
- ZCCHC8 p.Ala615Thr Uncertain significance Single submitter
- ZCCHC8 p.Ala615Val Uncertain significance Single submitter
- ZCCHC8 p.Ala646Thr Uncertain significance Single submitter
- ZCCHC8 p.Arg246Trp Uncertain significance Single submitter
- ZCCHC8 p.Arg273Gln Uncertain significance Single submitter
- ZCCHC8 p.Arg477Gln Uncertain significance Single submitter
- ZCCHC8 p.Arg525Thr Uncertain significance Single submitter
- ZCCHC8 p.Arg54Gln Uncertain significance Single submitter
- ZCCHC8 p.Arg64Cys Uncertain significance Single submitter
- ZCCHC8 p.Arg64Leu Uncertain significance Single submitter
- ZCCHC8 p.Arg79Gln Uncertain significance Single submitter
- ZCCHC8 p.Asn129Asp Uncertain significance Single submitter
- ZCCHC8 p.Asn129Ser Uncertain significance Single submitter
- ZCCHC8 p.Asn161Ser Uncertain significance Single submitter
- ZCCHC8 p.Asn162His Uncertain significance Single submitter
- ZCCHC8 p.Asn231Ser Uncertain significance Single submitter
- ZCCHC8 p.Asn366Asp Uncertain significance Single submitter
- ZCCHC8 p.Asn371Tyr Uncertain significance Single submitter
- ZCCHC8 p.Asn436Lys Uncertain significance Single submitter
- ZCCHC8 p.Asn538Lys Uncertain significance Single submitter
- ZCCHC8 p.Asn561Asp Uncertain significance Single submitter
- ZCCHC8 p.Asn561Lys Uncertain significance Single submitter
- ZCCHC8 p.Asn632His Uncertain significance Single submitter
- ZCCHC8 p.Asn637Ile Uncertain significance Single submitter
- ZCCHC8 p.Asn698Ile Uncertain significance Single submitter
- ZCCHC8 p.Asp17Gly Uncertain significance Single submitter
- ZCCHC8 p.Asp303Glu Uncertain significance Single submitter
- ZCCHC8 p.Asp33Asn Uncertain significance Single submitter
- ZCCHC8 p.Asp35His Uncertain significance Single submitter
- ZCCHC8 p.Asp360Val Uncertain significance Single submitter
- ZCCHC8 p.Asp443Asn Uncertain significance Single submitter
- ZCCHC8 p.Asp499Asn Uncertain significance Single submitter
- ZCCHC8 p.Asp542Ala Uncertain significance Single submitter
- ZCCHC8 p.Asp579Val Uncertain significance Single submitter
- ZCCHC8 p.Asp634Asn Uncertain significance Single submitter
- ZCCHC8 p.Asp662Asn Uncertain significance Single submitter
- ZCCHC8 p.Asp87His Uncertain significance Single submitter
- ZCCHC8 p.Cys607Phe Uncertain significance Single submitter
- ZCCHC8 p.Gln216Lys Uncertain significance Single submitter
- ZCCHC8 p.Gln352Glu Uncertain significance Single submitter
- ZCCHC8 p.Gln408Leu Uncertain significance Single submitter
- ZCCHC8 p.Glu14Ala Uncertain significance Single submitter
- ZCCHC8 p.Glu164Asp Uncertain significance Single submitter
- ZCCHC8 p.Glu196Asp Uncertain significance Single submitter
-
ZCCHC8 p.Glu196Lys
Uncertain significance
Single submitter
dyskeratosis congenita
- ZCCHC8 p.Glu293Asp Uncertain significance Single submitter
- ZCCHC8 p.Glu39Val Uncertain significance Single submitter
- ZCCHC8 p.Glu445Gly Uncertain significance Single submitter
- ZCCHC8 p.Glu460Ala Uncertain significance Single submitter
- ZCCHC8 p.Glu51Val Uncertain significance Single submitter
- ZCCHC8 p.Glu535Lys Uncertain significance Single submitter
- ZCCHC8 p.Glu574Lys Uncertain significance Single submitter
- ZCCHC8 p.Glu592Asp Uncertain significance Single submitter
- ZCCHC8 p.Glu602Asp Uncertain significance Single submitter
- ZCCHC8 p.Glu610Val Uncertain significance Single submitter
- ZCCHC8 p.Glu613Gln Uncertain significance Single submitter
- ZCCHC8 p.Gly344Glu Uncertain significance Single submitter
- ZCCHC8 p.Gly439Glu Uncertain significance Single submitter
- ZCCHC8 p.Gly45Ser Uncertain significance Single submitter
- ZCCHC8 p.Gly551Ser Uncertain significance Single submitter
- ZCCHC8 p.Gly621Ala Uncertain significance Single submitter
- ZCCHC8 p.Gly627Ser Uncertain significance Single submitter
- ZCCHC8 p.His204Arg Uncertain significance Single submitter
- ZCCHC8 p.His454Arg Uncertain significance Single submitter
- ZCCHC8 p.Ile104Val Uncertain significance Single submitter
- ZCCHC8 p.Ile159Val Uncertain significance Single submitter
- ZCCHC8 p.Ile218Leu Uncertain significance Single submitter
- ZCCHC8 p.Ile251Thr Uncertain significance Single submitter
- ZCCHC8 p.Ile310Met Uncertain significance Single submitter
- ZCCHC8 p.Ile372Val Uncertain significance Single submitter
- ZCCHC8 p.Ile384Asn Uncertain significance Single submitter
- ZCCHC8 p.Ile670Val Uncertain significance Single submitter
- ZCCHC8 p.Ile76Thr Uncertain significance Single submitter
- ZCCHC8 p.Ile94Leu Uncertain significance Single submitter
- ZCCHC8 p.Leu180Val Uncertain significance Single submitter
- ZCCHC8 p.Leu495Val Uncertain significance Single submitter
- ZCCHC8 p.Leu606Phe Uncertain significance Single submitter
- ZCCHC8 p.Leu623Phe Uncertain significance Single submitter
- ZCCHC8 p.Leu70Phe Uncertain significance Single submitter
- ZCCHC8 p.Leu98Val Uncertain significance Single submitter
- ZCCHC8 p.Lys163Arg Uncertain significance Single submitter
- ZCCHC8 p.Lys202Arg Uncertain significance Single submitter
- ZCCHC8 p.Lys256Arg Uncertain significance Single submitter
- ZCCHC8 p.Lys25Arg Uncertain significance Single submitter
- ZCCHC8 p.Lys304Asn Uncertain significance Single submitter
- ZCCHC8 p.Lys32Arg Uncertain significance Single submitter
- ZCCHC8 p.Lys32Gln Uncertain significance Single submitter
- ZCCHC8 p.Lys655Arg Uncertain significance Single submitter
- ZCCHC8 p.Lys655Asn Uncertain significance Single submitter
-
ZCCHC8 p.Lys665Arg
Uncertain significance
Single submitter
ZCCHC8-related disorder
- ZCCHC8 p.Lys703Arg Uncertain significance Single submitter
- ZCCHC8 p.Lys704Gln Uncertain significance Single submitter
- ZCCHC8 p.Lys71Arg Uncertain significance Single submitter
- ZCCHC8 p.Met259Ile Uncertain significance Single submitter
- ZCCHC8 p.Met444Val Uncertain significance Single submitter
- ZCCHC8 p.Met684Ile Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
- ZCCHC8 p.Ala667Val Uncertain significance Multiple submitters
- ZCCHC8 p.Arg312Gln Uncertain significance Multiple submitters
-
ZCCHC8 p.Arg526Trp
Uncertain significance
Multiple submitters
ZCCHC8-related disorder
- ZCCHC8 p.Asp181His Uncertain significance Multiple submitters
- ZCCHC8 p.Glu280Lys Uncertain significance Multiple submitters
- ZCCHC8 p.Leu475Phe Uncertain significance Multiple submitters
- ZCCHC8 p.Pro476Ser Uncertain significance Multiple submitters
- ZCCHC8 p.Pro493Leu Uncertain significance Multiple submitters
- ZCCHC8 p.Arg246Gln Uncertain significance Single submitter
- ZCCHC8 p.Arg52Trp Uncertain significance Single submitter
- ZCCHC8 p.Asn191Lys Uncertain significance Single submitter
- ZCCHC8 p.Asn366Lys Uncertain significance Single submitter
- ZCCHC8 p.Asn67Asp Uncertain significance Single submitter
- ZCCHC8 p.Gln141Arg Uncertain significance Single submitter
- ZCCHC8 p.Gln185His Uncertain significance Single submitter
-
ZCCHC8 p.Glu113Lys
Likely pathogenic
Single submitter
dyskeratosis congenita
- ZCCHC8 p.Glu236Gly Uncertain significance Single submitter
- ZCCHC8 p.Glu278Val Uncertain significance Single submitter
- ZCCHC8 p.Glu294Lys Uncertain significance Single submitter
- ZCCHC8 p.Glu381Lys Uncertain significance Single submitter
-
ZCCHC8 p.Gly170Arg
Conflicting
Single submitter
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
-
ZCCHC8 p.Gly184Arg
Uncertain significance
Single submitter
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
-
ZCCHC8 p.Gly184Glu
Likely pathogenic
Single submitter
inherited acute myeloid leukemia
- ZCCHC8 p.Gly215Arg Uncertain significance Single submitter
- ZCCHC8 p.Gly215Val Uncertain significance Single submitter
- ZCCHC8 p.Gly233Asp Uncertain significance Single submitter
- ZCCHC8 p.Gly349Glu Uncertain significance Single submitter
- ZCCHC8 p.Gly377Arg Uncertain significance Single submitter
- ZCCHC8 p.Gly8Asp Uncertain significance Single submitter
- ZCCHC8 p.Leu12His Uncertain significance Single submitter
- ZCCHC8 p.Leu488Phe Uncertain significance Single submitter
- ZCCHC8 p.Leu77Gln Uncertain significance Single submitter
- ZCCHC8 p.Lys106Asn Uncertain significance Single submitter
- ZCCHC8 p.Lys202Asn Uncertain significance Single submitter
- ZCCHC8 p.Lys432Thr Uncertain significance Single submitter
- ZCCHC8 p.Phe115Ser Uncertain significance Single submitter
- ZCCHC8 p.Phe13Ile Uncertain significance Single submitter
- ZCCHC8 p.Phe283Cys Uncertain significance Single submitter
-
ZCCHC8 p.Pro186Leu
Pathogenic
Single submitter
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- ZCCHC8 p.Pro225Arg Uncertain significance Single submitter
- ZCCHC8 p.Pro480His Uncertain significance Single submitter
- ZCCHC8 p.Ser681Pro Uncertain significance Single submitter
- ZCCHC8 p.Thr485Asn Uncertain significance Single submitter
- ZCCHC8 p.Thr492Ile Uncertain significance Single submitter
- ZCCHC8 p.Trp382Arg Uncertain significance Single submitter
All ZCCHC8 variants
Pathogenic 1
- p.Pro186Leu Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ⚠
Likely pathogenic 3
- p.Glu113Lys Single submitter dyskeratosis congenita ⚠
- p.Gly184Glu Single submitter inherited acute myeloid leukemia ⚠
- p.Ser597Phe Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ⚠
Conflicting classifications of pathogenicity 10
- p.Ala47Val Single submitter ⚠
- p.Ala593Ser Single submitter ⚠
- p.Arg477Trp Single submitter ⚠
- p.Asp87Asn Single submitter ⚠
- p.Gln502Pro Single submitter ⚠
- p.Glu66Lys Single submitter inherited aplastic anemia ⚠
- p.Gly170Arg Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ⚠
- p.Thr577Met Single submitter ⚠
- p.Thr668Ala Single submitter ⚠
- p.Val348Ile Single submitter ⚠
Benign 6
- c.1140+29A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- c.200-44T>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- p.Leu691= Multiple submitters
- p.Val543Ile Multiple submitters
- c.502-17dup Single submitter
- p.Phe407= Single submitter
Benign/Likely benign 7
- c.1345+5G>A Multiple submitters pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- c.199+18T>C Multiple submitters
- c.200-4T>C Multiple submitters
- c.732+10T>C Multiple submitters
- p.Met663Val Multiple submitters
- p.Pro482= Multiple submitters
- p.Pro493= Multiple submitters
Likely benign 173
- c.1140+20T>A Multiple submitters
- c.199+11del Multiple submitters
- c.242+7G>A Multiple submitters
- p.Ala222= Multiple submitters
- p.Ala442= Multiple submitters
- p.Arg312= Multiple submitters
- p.Arg418= Multiple submitters
- p.Glu148= Multiple submitters
- p.Glu217= Multiple submitters
- p.Glu278del Multiple submitters
- p.Gly551Asp Multiple submitters
- p.Gly570= Multiple submitters
- p.Leu183= Multiple submitters
- p.Leu475= Multiple submitters
- p.Lys25= Multiple submitters
- p.Phe644= Multiple submitters
- p.Pro494Leu Multiple submitters
- p.Pro548Ser Multiple submitters
- p.Pro560= Multiple submitters
- p.Thr503= Multiple submitters
- p.Tyr258= Multiple submitters
- p.Val545= Multiple submitters
- c.1018+13A>C Single submitter
- c.1018+16T>C Single submitter
- c.1018+19G>C Single submitter
- c.1018+8A>G Single submitter
- c.1019-10T>C Single submitter
- c.1019-16T>A Single submitter
- c.1019-9C>T Single submitter
- c.1140+13A>T Single submitter
- c.1140+7A>G Single submitter
- c.1140+9A>G Single submitter
- c.1141-11_1141-10del Single submitter
- c.1141-13_1141-9del Single submitter
- c.1141-14C>T Single submitter
- c.1141-21del Single submitter
- c.1141-21dup Single submitter
- c.1227+20G>T Single submitter
- c.1228-13G>A Single submitter
- c.1228-13G>C Single submitter
- c.1228-18G>A Single submitter
- c.1228-18G>T Single submitter
- c.1345+10A>G Single submitter
- c.1346-16_1346-12del Single submitter
- c.199+10C>G Single submitter
- c.199+11C>T Single submitter
- c.199+13C>T Single submitter
- c.199+14T>C Single submitter
- c.199+15C>G Single submitter
- c.200-4del Single submitter
- c.200-8A>C Single submitter
- c.242+16A>G Single submitter
- c.242+20A>C Single submitter
- c.243-11T>A Single submitter
- c.243-15_243-14dup Single submitter
- c.243-20T>C Single submitter
- c.317+17C>G Single submitter
- c.317+7A>G Single submitter
- c.318-4A>G Single submitter
- c.318-5C>A Single submitter
- c.423+9A>C Single submitter
- c.424-20T>C Single submitter
- c.424-7G>T Single submitter
- c.501+12C>T Single submitter
- c.501+18A>G Single submitter
- c.501+19G>A Single submitter
- c.502-11G>A Single submitter
- c.502-15A>G Single submitter
- c.502-16G>T Single submitter
- c.605+10A>G Single submitter
- c.671+11G>A Single submitter
- c.671+7G>T Single submitter
- c.672-16T>C Single submitter
- c.732+13C>A Single submitter
- c.732+14A>G Single submitter
- c.733-14G>A Single submitter
- c.733-18A>G Single submitter
- c.733-4G>A Single submitter
- c.875+20A>G Single submitter
- c.875+8T>C Single submitter
- c.876-12A>G Single submitter
- p.Ala158= Single submitter
- p.Ala3= Single submitter
- p.Ala392= Single submitter
- p.Ala438= Single submitter
- p.Ala529= Single submitter
- p.Ala534= Single submitter
- p.Ala65= Single submitter
- p.Ala653= Single submitter
- p.Arg246= Single submitter
- p.Arg273= Single submitter
- p.Arg52= Single submitter
- p.Arg526= Single submitter
- p.Arg64= Single submitter
- p.Arg79= Single submitter
- p.Asn102= Single submitter
- p.Asn231= Single submitter
- p.Asn371= Single submitter
- p.Asn637Ser Single submitter
- p.Asn694= Single submitter
- p.Asn86= Single submitter
- p.Asp542= Single submitter
- p.Asp546= Single submitter
- p.Asp647= Single submitter
- p.Cys157Tyr Single submitter
- p.Gln126= Single submitter
- p.Gln296= Single submitter
- p.Glu132= Single submitter
- p.Glu257= Single submitter
- p.Glu280= Single submitter
- p.Glu293= Single submitter
- p.Glu325= Single submitter
- p.Glu329= Single submitter
- p.Glu381= Single submitter
- p.Glu451= Single submitter
- p.Glu48= Single submitter
- p.Glu613= Single submitter
- p.Glu707= Single submitter
- p.Gly263= Single submitter
- p.Gly669= Single submitter
- p.Gly82= Single submitter
- p.His275= Single submitter
- p.His28= Single submitter
- p.His454= Single submitter
- p.Leu139= Single submitter
- p.Leu306= Single submitter
- p.Leu323= Single submitter
- p.Leu328= Single submitter
- p.Leu335= Single submitter
- p.Leu446= Single submitter
- p.Leu563= Single submitter
- p.Leu643= Single submitter
- p.Lys287= Single submitter
- p.Lys363= Single submitter
- p.Lys429= Single submitter
- p.Lys430= Single submitter
- p.Lys575= Single submitter
- p.Pro142= Single submitter
- p.Pro186= Single submitter
- p.Pro26= Single submitter
- p.Pro319= Single submitter
- p.Pro425= Single submitter
- p.Pro441= Single submitter
- p.Pro480= Single submitter
- p.Pro489= Single submitter
- p.Pro494= Single submitter
- p.Pro544= Single submitter
- p.Pro568= Single submitter
- p.Pro581= Single submitter
- p.Pro616= Single submitter
- p.Pro616Leu Single submitter
- p.Pro696= Single submitter
- p.Pro80= Single submitter
- p.Ser195= Single submitter
- p.Ser331= Single submitter
- p.Ser459= Single submitter
- p.Ser539= Single submitter
- p.Ser541= Single submitter
- p.Ser658= Single submitter
- p.Ter708= Single submitter
- p.Thr374= Single submitter
- p.Thr505= Single submitter
- p.Thr577= Single submitter
- p.Thr588= Single submitter
- p.Thr604= Single submitter
- p.Thr619= Single submitter
- p.Thr652= Single submitter
- p.Thr88= Single submitter
- p.Tyr359= Single submitter
- p.Val44= Single submitter
- p.Val583= Single submitter
- p.Val629= Single submitter
- p.Val85= Single submitter
Uncertain significance 281
- p.Ala392Ser Multiple submitters ⚠
- p.Ala409Glu Multiple submitters ⚠
- p.Ala409Val Multiple submitters ⚠
- p.Ala442Val Multiple submitters ⚠
- p.Ala47Ser Multiple submitters ⚠
- p.Ala514Thr Multiple submitters ⚠
- p.Ala667Val Multiple submitters ⚠
- p.Arg312Gln Multiple submitters ⚠
- p.Arg312Trp Multiple submitters ⚠
- p.Arg314His Multiple submitters ⚠
- p.Arg477Gly Multiple submitters ⚠
- p.Arg526Gln Multiple submitters ⚠
- p.Arg526Trp Multiple submitters ZCCHC8-related disorder ⚠
- p.Arg697Gln Multiple submitters
- p.Asn626Lys Multiple submitters ⚠
- p.Asp181His Multiple submitters ⚠
- p.Asp447Asn Multiple submitters ⚠
- p.Asp540Asn Multiple submitters ⚠
- p.Asp542Asn Multiple submitters ⚠
- p.Gln457Leu Multiple submitters pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ⚠
- p.Gln68Arg Multiple submitters ⚠
- p.Glu20Lys Multiple submitters ⚠
- p.Glu280Lys Multiple submitters ⚠
- p.Glu39Lys Multiple submitters ⚠
- p.Glu460Gly Multiple submitters ⚠
- p.Glu460Lys Multiple submitters ⚠
- p.Glu535Gly Multiple submitters ⚠
- p.Glu620Asp Multiple submitters ⚠
- p.Gly439Arg Multiple submitters ⚠
- p.Gly627Val Multiple submitters ⚠
- p.Leu10Ile Multiple submitters ⚠
- p.Leu475Phe Multiple submitters ⚠
- p.Leu84Trp Multiple submitters ⚠
- p.Lys152Glu Multiple submitters ⚠
- p.Lys202= Multiple submitters
- p.Lys304Gln Multiple submitters ⚠
- p.Lys32Thr Multiple submitters ⚠
- p.Lys590Asn Multiple submitters ⚠
- p.Met244Thr Multiple submitters ⚠
- p.Met450Thr Multiple submitters ⚠
- p.Pro142Leu Multiple submitters ⚠
- p.Pro24Leu Multiple submitters ⚠
- p.Pro26Ser Multiple submitters ⚠
- p.Pro470Ala Multiple submitters ⚠
- p.Pro476Ser Multiple submitters ⚠
- p.Pro493Leu Multiple submitters ⚠
- p.Pro566Leu Multiple submitters ⚠
- p.Ser331Leu Multiple submitters ⚠
- p.Ser556Thr Multiple submitters ⚠
- p.Thr496Ile Multiple submitters pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ⚠
- p.Val116Ile Multiple submitters ⚠
- p.Val279Leu Multiple submitters ⚠
- p.Val290Ile Multiple submitters ⚠
- p.Val537Ile Multiple submitters ⚠
- c.1019-4A>G Single submitter
- c.1140+1G>A Single submitter
- c.1228-3T>C Single submitter
- c.199+3A>G Single submitter
- c.242+3A>T Single submitter
- c.242+5G>A Single submitter
- c.243-11T>G Single submitter
- c.317+2dup Single submitter
- c.317+2T>G Single submitter
- c.317+4A>G Single submitter
- c.605+12A>G Single submitter
- c.671+5G>A Single submitter
- c.875+6A>G Single submitter
- p.Ala103Val Single submitter ⚠
- p.Ala222Thr Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala276Thr Single submitter ⚠
- p.Ala392Gly Single submitter ⚠
- p.Ala409= Single submitter
- p.Ala438Val Single submitter ⚠
- p.Ala442Thr Single submitter ⚠
- p.Ala506Val Single submitter ⚠
- p.Ala612Glu Single submitter ⚠
- p.Ala615Pro Single submitter ⚠
- p.Ala615Thr Single submitter ⚠
- p.Ala615Val Single submitter ⚠
- p.Ala646Thr Single submitter ⚠
- p.Ala653fs Single submitter
- p.Arg246Gln Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg255fs Single submitter
- p.Arg273Gln Single submitter ⚠
- p.Arg477Gln Single submitter ⚠
- p.Arg525Thr Single submitter ⚠
- p.Arg52Trp Single submitter ⚠
- p.Arg54Gln Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Arg64Leu Single submitter ⚠
- p.Arg697Ter Single submitter
- p.Arg72Ter Single submitter
- p.Arg79Gln Single submitter ⚠
- p.Asn129Asp Single submitter ⚠
- p.Asn129Ser Single submitter ⚠
- p.Asn161Ser Single submitter ⚠
- p.Asn162His Single submitter ⚠
- p.Asn191Lys Single submitter ⚠
- p.Asn231Ser Single submitter ⚠
- p.Asn247Ser Single submitter
- p.Asn366Asp Single submitter ⚠
- p.Asn366Lys Single submitter ⚠
- p.Asn371Tyr Single submitter ⚠
- p.Asn436Lys Single submitter ⚠
- p.Asn538Lys Single submitter ⚠
- p.Asn561Asp Single submitter ⚠
- p.Asn561Lys Single submitter ⚠
- p.Asn632His Single submitter ⚠
- p.Asn637Ile Single submitter ⚠
- p.Asn67Asp Single submitter ⚠
- p.Asn67Ser Single submitter
- p.Asn698Ile Single submitter ⚠
- p.Asp17Gly Single submitter ⚠
- p.Asp303Glu Single submitter ⚠
- p.Asp33Asn Single submitter ⚠
- p.Asp35_Asp37del Single submitter
- p.Asp35His Single submitter ⚠
- p.Asp360Val Single submitter ⚠
- p.Asp380= Single submitter
- p.Asp380fs Single submitter
- p.Asp443Asn Single submitter ⚠
- p.Asp499Asn Single submitter ⚠
- p.Asp542Ala Single submitter ⚠
- p.Asp579Val Single submitter ⚠
- p.Asp634Asn Single submitter ⚠
- p.Asp662Ala Single submitter
- p.Asp662Asn Single submitter ⚠
- p.Asp87His Single submitter ⚠
- p.Cys607Phe Single submitter ⚠
- p.Gln141Arg Single submitter ⚠
- p.Gln185His Single submitter ⚠
- p.Gln216Lys Single submitter ⚠
- p.Gln352Glu Single submitter ⚠
- p.Gln353_Asn354insTer Single submitter
- p.Gln395del Single submitter
- p.Gln408Leu Single submitter ⚠
- p.Gln55Ter Single submitter
- p.Gln96His Single submitter
- p.Glu14Ala Single submitter ⚠
- p.Glu164Asp Single submitter ⚠
- p.Glu196Asp Single submitter ⚠
- p.Glu196Lys Single submitter dyskeratosis congenita ⚠
- p.Glu236Gly Single submitter ⚠
- p.Glu278Val Single submitter ⚠
- p.Glu293Asp Single submitter ⚠
- p.Glu294Lys Single submitter ⚠
- p.Glu381Lys Single submitter ⚠
- p.Glu39Val Single submitter ⚠
- p.Glu445Gly Single submitter ⚠
- p.Glu460Ala Single submitter ⚠
- p.Glu460Ter Single submitter
- p.Glu51Val Single submitter ⚠
- p.Glu535Lys Single submitter ⚠
- p.Glu574Lys Single submitter ⚠
- p.Glu592Asp Single submitter ⚠
- p.Glu602Asp Single submitter ⚠
- p.Glu610Val Single submitter ⚠
- p.Glu613Gln Single submitter ⚠
- p.Gly184Arg Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ⚠
- p.Gly215Arg Single submitter ⚠
- p.Gly215Val Single submitter ⚠
- p.Gly233Asp Single submitter ⚠
- p.Gly344Glu Single submitter ⚠
- p.Gly349Glu Single submitter ⚠
- p.Gly377Arg Single submitter ⚠
- p.Gly439Glu Single submitter ⚠
- p.Gly45Ser Single submitter ⚠
- p.Gly551Ser Single submitter ⚠
- p.Gly621Ala Single submitter ⚠
- p.Gly627Ser Single submitter ⚠
- p.Gly8Asp Single submitter ⚠
- p.His204Arg Single submitter ⚠
- p.His454Arg Single submitter ⚠
- p.Ile104Val Single submitter ⚠
- p.Ile159Val Single submitter ⚠
- p.Ile218Leu Single submitter ⚠
- p.Ile251Thr Single submitter ⚠
- p.Ile310Met Single submitter ⚠
- p.Ile372Val Single submitter ⚠
- p.Ile384Asn Single submitter ⚠
- p.Ile670Val Single submitter ⚠
- p.Ile76Thr Single submitter ⚠
- p.Ile94Leu Single submitter ⚠
- p.Leu12His Single submitter ⚠
- p.Leu180Val Single submitter ⚠
- p.Leu306fs Single submitter
- p.Leu488Phe Single submitter ⚠
- p.Leu495Val Single submitter ⚠
- p.Leu606Phe Single submitter ⚠
- p.Leu623Phe Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Leu77Gln Single submitter ⚠
- p.Leu98Val Single submitter ⚠
- p.Lys106Asn Single submitter ⚠
- p.Lys163Arg Single submitter ⚠
- p.Lys202Arg Single submitter ⚠
- p.Lys202Asn Single submitter ⚠
- p.Lys256Arg Single submitter ⚠
- p.Lys25Arg Single submitter ⚠
- p.Lys304Asn Single submitter ⚠
- p.Lys32Arg Single submitter ⚠
- p.Lys32Gln Single submitter ⚠
- p.Lys432Thr Single submitter ⚠
- p.Lys655Arg Single submitter ⚠
- p.Lys655Asn Single submitter ⚠
- p.Lys665Arg Single submitter ZCCHC8-related disorder ⚠
- p.Lys703Arg Single submitter ⚠
- p.Lys704Gln Single submitter ⚠
- p.Lys71Arg Single submitter ⚠
- p.Met259Ile Single submitter ⚠
- p.Met444Val Single submitter ⚠
- p.Met684Ile Single submitter ⚠
- p.Phe115Ser Single submitter ⚠
- p.Phe13Ile Single submitter ⚠
- p.Phe283Cys Single submitter ⚠
- p.Phe283Ser Single submitter ⚠
- p.Pro192Ala Single submitter pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ⚠
- p.Pro225Arg Single submitter ⚠
- p.Pro425Ser Single submitter ⚠
- p.Pro428Ser Single submitter ⚠
- p.Pro441Leu Single submitter ⚠
- p.Pro453Ser Single submitter ⚠
- p.Pro466Ser Single submitter ⚠
- p.Pro469Leu Single submitter ⚠
- p.Pro474del Single submitter
- p.Pro480His Single submitter ⚠
- p.Pro481Leu Single submitter ⚠
- p.Pro481Ser Single submitter ⚠
- p.Pro482Arg Single submitter ⚠
- p.Pro489Arg Single submitter
- p.Pro494Ser Single submitter ⚠
- p.Pro568Leu Single submitter ⚠
- p.Pro584Ser Single submitter ⚠
- p.Pro645Ser Single submitter ⚠
- p.Pro650Thr Single submitter ⚠
- p.Ser167Gly Single submitter ⚠
- p.Ser212Cys Single submitter ⚠
- p.Ser420Ala Single submitter ⚠
- p.Ser435Thr Single submitter ⚠
- p.Ser458Asn Single submitter ⚠
- p.Ser459Asn Single submitter ⚠
- p.Ser461Gly Single submitter ⚠
- p.Ser498Arg Single submitter ⚠
- p.Ser539Gly Single submitter ⚠
- p.Ser573Cys Single submitter ⚠
- p.Ser597Cys Single submitter ⚠
- p.Ser605Ala Single submitter ⚠
- p.Ser628Gly Single submitter ⚠
- p.Ser664Asn Single submitter
- p.Ser681Pro Single submitter ⚠
- p.Ser81Asn Single submitter ⚠
- p.Thr485Asn Single submitter ⚠
- p.Thr492Ile Single submitter ⚠
- p.Thr648Ile Single submitter ⚠
- p.Thr652Arg Single submitter ⚠
- p.Thr652Met Single submitter ⚠
- p.Thr654Ala Single submitter ⚠
- p.Thr654Ile Single submitter ⚠
- p.Thr671Met Single submitter ⚠
- p.Thr88Ser Single submitter ⚠
- p.Trp382Arg Single submitter ⚠
- p.Tyr108Cys Single submitter ⚠
- p.Tyr311His Single submitter ⚠
- p.Tyr336His Single submitter ⚠
- p.Tyr402His Single submitter ⚠
- p.Val146fs Single submitter
- p.Val220fs Single submitter
- p.Val220Leu Single submitter dyskeratosis congenita ⚠
- p.Val279Ile Single submitter ⚠
- p.Val290Ala Single submitter ⚠
- p.Val412Gly Single submitter ⚠
- p.Val483fs Single submitter
- p.Val483Ile Single submitter ⚠
- p.Val537Leu Single submitter ⚠
- p.Val543Leu Single submitter ⚠
- p.Val554Ala Single submitter ⚠
- p.Val554Ile Single submitter ⚠
- p.Val567Phe Single submitter ⚠
- p.Val583Leu Single submitter ⚠