DZIP1 — 125 ClinVar variants
All ClinVar germline DZIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 3 Benign · 4 Likely benign · 114 Uncertain significance
Full DZIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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 lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DZIP1 p.His262Arg
Uncertain significance
Multiple submitters
spermatogenic failure 47
- DZIP1 p.Ala124Val Uncertain significance Single submitter
- DZIP1 p.Ala211Ser Uncertain significance Single submitter
- DZIP1 p.Ala265Gly Uncertain significance Single submitter
- DZIP1 p.Ala32Val Uncertain significance Single submitter
- DZIP1 p.Ala380Gly Uncertain significance Single submitter
- DZIP1 p.Ala648Thr Uncertain significance Single submitter
- DZIP1 p.Ala696Val Uncertain significance Single submitter
- DZIP1 p.Ala739Val Uncertain significance Single submitter
- DZIP1 p.Arg122Gly Uncertain significance Single submitter
- DZIP1 p.Arg219Cys Uncertain significance Single submitter
- DZIP1 p.Arg353Cys Uncertain significance Single submitter
- DZIP1 p.Arg377Gln Uncertain significance Single submitter
- DZIP1 p.Arg391Gln Uncertain significance Single submitter
- DZIP1 p.Arg563Leu Uncertain significance Single submitter
- DZIP1 p.Arg645Thr Uncertain significance Single submitter
- DZIP1 p.Arg757Leu Uncertain significance Single submitter
- DZIP1 p.Asn759Ser Uncertain significance Single submitter
- DZIP1 p.Asn761Lys Uncertain significance Single submitter
- DZIP1 p.Asp30Glu Uncertain significance Single submitter
- DZIP1 p.Asp615Val Uncertain significance Single submitter
- DZIP1 p.Asp623Glu Uncertain significance Single submitter
- DZIP1 p.Asp791His Uncertain significance Single submitter
- DZIP1 p.Asp7Gly Uncertain significance Single submitter
- DZIP1 p.Cys154Gly Uncertain significance Single submitter
- DZIP1 p.Cys784Phe Uncertain significance Single submitter
- DZIP1 p.Gln365Arg Uncertain significance Single submitter
- DZIP1 p.Gln428Arg Uncertain significance Single submitter
- DZIP1 p.Gln59Arg Uncertain significance Single submitter
- DZIP1 p.Gln686Pro Uncertain significance Single submitter
- DZIP1 p.Glu102Asp Uncertain significance Single submitter
- DZIP1 p.Glu104Lys Uncertain significance Single submitter
- DZIP1 p.Glu192Gln Uncertain significance Single submitter
- DZIP1 p.Glu229Gly Uncertain significance Single submitter
- DZIP1 p.Glu27Lys Uncertain significance Single submitter
- DZIP1 p.Glu452Gly Uncertain significance Single submitter
- DZIP1 p.Gly713Ala Uncertain significance Single submitter
- DZIP1 p.Gly765Ser Uncertain significance Single submitter
- DZIP1 p.His153Gln Uncertain significance Single submitter
- DZIP1 p.His382Arg Uncertain significance Single submitter
- DZIP1 p.His582Arg Uncertain significance Single submitter
- DZIP1 p.His825Arg Uncertain significance Single submitter
- DZIP1 p.Ile774Asn Uncertain significance Single submitter
- DZIP1 p.Leu101Val Uncertain significance Single submitter
- DZIP1 p.Leu132Pro Uncertain significance Single submitter
- DZIP1 p.Leu507Phe Uncertain significance Single submitter
- DZIP1 p.Leu574Ile Uncertain significance Single submitter
- DZIP1 p.Lys105Arg Uncertain significance Single submitter
- DZIP1 p.Lys16Arg Uncertain significance Single submitter
- DZIP1 p.Lys238Gln Uncertain significance Single submitter
- DZIP1 p.Lys647Glu Uncertain significance Single submitter
- DZIP1 p.Lys718Arg Uncertain significance Single submitter
- DZIP1 p.Met274Arg Uncertain significance Single submitter
- DZIP1 p.Met403Val Uncertain significance Single submitter
- DZIP1 p.Met525Val Uncertain significance Single submitter
- DZIP1 p.Met622Lys Uncertain significance Single submitter
- DZIP1 p.Met664Ile Uncertain significance Single submitter
- DZIP1 p.Met664Val Uncertain significance Single submitter
- DZIP1 p.Phe58Leu Uncertain significance Single submitter
- DZIP1 p.Pro355Leu Uncertain significance Single submitter
- DZIP1 p.Pro669Ser Uncertain significance Single submitter
- DZIP1 p.Pro746Ser Uncertain significance Single submitter
- DZIP1 p.Pro763Ala Uncertain significance Single submitter
- DZIP1 p.Pro770Ser Uncertain significance Single submitter
- DZIP1 p.Pro814Thr Uncertain significance Single submitter
- DZIP1 p.Pro838Leu Uncertain significance Single submitter
- DZIP1 p.Ser159Thr Uncertain significance Single submitter
-
DZIP1 p.Ser24Arg
Uncertain significance
Single submitter
spermatogenic failure 47
- DZIP1 p.Ser317Leu Uncertain significance Single submitter
- DZIP1 p.Ser497Leu Uncertain significance Single submitter
- DZIP1 p.Ser49Arg Uncertain significance Single submitter
- DZIP1 p.Ser576Ile Uncertain significance Single submitter
- DZIP1 p.Ser807Pro Uncertain significance Single submitter
- DZIP1 p.Ser865Ala Uncertain significance Single submitter
- DZIP1 p.Thr222Ala Uncertain significance Single submitter
- DZIP1 p.Thr443Ala Uncertain significance Single submitter
- DZIP1 p.Thr627Ala Uncertain significance Single submitter
- DZIP1 p.Thr627Ser Uncertain significance Single submitter
- DZIP1 p.Thr674Ala Uncertain significance Single submitter
- DZIP1 p.Thr716Pro Uncertain significance Single submitter
- DZIP1 p.Thr767Asn Uncertain significance Single submitter
- DZIP1 p.Thr88Ala Uncertain significance Single submitter
- DZIP1 p.Trp69Arg Uncertain significance Single submitter
- DZIP1 p.Val244Ile Uncertain significance Single submitter
- DZIP1 p.Val573Ile Uncertain significance Single submitter
- DZIP1 p.Val743Phe Uncertain significance Single submitter
- DZIP1 p.Val760Gly Uncertain significance Single submitter
- DZIP1 p.Val764Phe Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- DZIP1 p.Ala167Val Likely benign Single submitter
- DZIP1 p.Ala38Ser Uncertain significance Single submitter
- DZIP1 p.Arg180Trp Uncertain significance Single submitter
- DZIP1 p.Arg220His Uncertain significance Single submitter
- DZIP1 p.Asn95Lys Uncertain significance Single submitter
- DZIP1 p.Asp155Asn Uncertain significance Single submitter
- DZIP1 p.Asp863Asn Uncertain significance Single submitter
- DZIP1 p.Gln210Arg Uncertain significance Single submitter
- DZIP1 p.Gln275Pro Uncertain significance Single submitter
- DZIP1 p.Glu300Lys Uncertain significance Single submitter
- DZIP1 p.Glu306Lys Uncertain significance Single submitter
- DZIP1 p.Ile217Val Uncertain significance Single submitter
- DZIP1 p.Ile594Thr Uncertain significance Single submitter
- DZIP1 p.Leu425Phe Uncertain significance Single submitter
- DZIP1 p.Leu598Phe Uncertain significance Single submitter
- DZIP1 p.Lys583Thr Uncertain significance Single submitter
- DZIP1 p.Met301Ile Uncertain significance Single submitter
- DZIP1 p.Pro107Leu Uncertain significance Single submitter
- DZIP1 p.Pro679Ser Uncertain significance Single submitter
- DZIP1 p.Ser140Leu Uncertain significance Single submitter
- DZIP1 p.Ser24Asn Uncertain significance Single submitter
- DZIP1 p.Ser465Phe Uncertain significance Single submitter
- DZIP1 p.Trp861Gly Uncertain significance Single submitter
- DZIP1 p.Val113Ala Uncertain significance Single submitter
- DZIP1 p.Val77Leu Uncertain significance Single submitter
-
DZIP1 p.Ser497Trp
Uncertain significance
No assertion criteria
DZIP1-related disorder
All DZIP1 variants
Pathogenic 2
- p.Arg63Gln No assertion criteria spermatogenic failure 47
- p.Tyr230Ter No assertion criteria spermatogenic failure 47
Likely pathogenic 2
- p.Ser369fs Single submitter spermatogenic failure 47
- p.Val750fs Single submitter spermatogenic failure 47
Benign 3
- p.Met664Leu Multiple submitters
- p.Thr222= Multiple submitters
- p.Cys604Trp Single submitter
Likely benign 4
- p.Ala167Val Single submitter ⚠
- p.Arg563His Single submitter
- p.Arg757His Single submitter
- p.Asp352Glu Single submitter
Uncertain significance 114
- p.His262Arg Multiple submitters spermatogenic failure 47 ⚠
- c.37-5dup Single submitter intellectual developmental disorder 61
- p.Ala124Val Single submitter ⚠
- p.Ala211Ser Single submitter ⚠
- p.Ala265Gly Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Ala380Gly Single submitter ⚠
- p.Ala38Ser Single submitter ⚠
- p.Ala648Thr Single submitter ⚠
- p.Ala696Val Single submitter ⚠
- p.Ala739Val Single submitter ⚠
- p.Arg122Gly Single submitter ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg220His Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Arg377Gln Single submitter ⚠
- p.Arg391Gln Single submitter ⚠
- p.Arg563Leu Single submitter ⚠
- p.Arg645Thr Single submitter ⚠
- p.Arg757Leu Single submitter ⚠
- p.Asn759Ser Single submitter ⚠
- p.Asn761Lys Single submitter ⚠
- p.Asn95Lys Single submitter ⚠
- p.Asp155Asn Single submitter ⚠
- p.Asp30Glu Single submitter ⚠
- p.Asp615Val Single submitter ⚠
- p.Asp623Glu Single submitter ⚠
- p.Asp791His Single submitter ⚠
- p.Asp7Gly Single submitter ⚠
- p.Asp863Asn Single submitter ⚠
- p.Cys154Gly Single submitter ⚠
- p.Cys784Phe Single submitter ⚠
- p.Gln210Arg Single submitter ⚠
- p.Gln275Pro Single submitter ⚠
- p.Gln365Arg Single submitter ⚠
- p.Gln428Arg Single submitter ⚠
- p.Gln59Arg Single submitter ⚠
- p.Gln686Pro Single submitter ⚠
- p.Glu102Asp Single submitter ⚠
- p.Glu104Lys Single submitter ⚠
- p.Glu192Gln Single submitter ⚠
- p.Glu229Gly Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu300Lys Single submitter ⚠
- p.Glu306Lys Single submitter ⚠
- p.Glu452Gly Single submitter ⚠
- p.Gly713Ala Single submitter ⚠
- p.Gly765Ser Single submitter ⚠
- p.His153Gln Single submitter ⚠
- p.His382Arg Single submitter ⚠
- p.His582Arg Single submitter ⚠
- p.His825Arg Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile594Thr Single submitter ⚠
- p.Ile774Asn Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu132Pro Single submitter ⚠
- p.Leu425Phe Single submitter ⚠
- p.Leu507Phe Single submitter ⚠
- p.Leu574Ile Single submitter ⚠
- p.Leu598Phe Single submitter ⚠
- p.Lys105Arg Single submitter ⚠
- p.Lys16Arg Single submitter ⚠
- p.Lys238Gln Single submitter ⚠
- p.Lys583Thr Single submitter ⚠
- p.Lys647Glu Single submitter ⚠
- p.Lys718Arg Single submitter ⚠
- p.Met274Arg Single submitter ⚠
- p.Met301Ile Single submitter ⚠
- p.Met403Val Single submitter ⚠
- p.Met525Val Single submitter ⚠
- p.Met622Lys Single submitter ⚠
- p.Met664Ile Single submitter ⚠
- p.Met664Val Single submitter ⚠
- p.Phe58Leu Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro355Leu Single submitter ⚠
- p.Pro669Ser Single submitter ⚠
- p.Pro679Ser Single submitter ⚠
- p.Pro746Ser Single submitter ⚠
- p.Pro763Ala Single submitter ⚠
- p.Pro770Ser Single submitter ⚠
- p.Pro814Thr Single submitter ⚠
- p.Pro838Leu Single submitter ⚠
- p.Ser140Leu Single submitter ⚠
- p.Ser159Thr Single submitter ⚠
- p.Ser24Arg Single submitter spermatogenic failure 47 ⚠
- p.Ser24Asn Single submitter ⚠
- p.Ser317Leu Single submitter ⚠
- p.Ser465Phe Single submitter ⚠
- p.Ser497Leu Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser576Ile Single submitter ⚠
- p.Ser807Pro Single submitter ⚠
- p.Ser865Ala Single submitter ⚠
- p.Thr222Ala Single submitter ⚠
- p.Thr443Ala Single submitter ⚠
- p.Thr627Ala Single submitter ⚠
- p.Thr627Ser Single submitter ⚠
- p.Thr674Ala Single submitter ⚠
- p.Thr716Pro Single submitter ⚠
- p.Thr767Asn Single submitter ⚠
- p.Thr88Ala Single submitter ⚠
- p.Trp69Arg Single submitter ⚠
- p.Trp861Gly Single submitter ⚠
- p.Val113Ala Single submitter ⚠
- p.Val244Ile Single submitter ⚠
- p.Val573Ile Single submitter ⚠
- p.Val743Phe Single submitter ⚠
- p.Val760Gly Single submitter ⚠
- p.Val764Phe Single submitter ⚠
- p.Val77Leu Single submitter ⚠
- p.Ser497Trp No assertion criteria DZIP1-related disorder ⚠