SRP68 — 76 ClinVar variants
All ClinVar germline SRP68 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
1 Pathogenic · 4 Likely benign · 71 Uncertain significance
Full SRP68 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRP68 p.Ala138Ser Uncertain significance Single submitter
- SRP68 p.Ala275Val Uncertain significance Single submitter
- SRP68 p.Ala280Gly Uncertain significance Single submitter
- SRP68 p.Ala291Thr Uncertain significance Single submitter
- SRP68 p.Ala502Thr Uncertain significance Single submitter
- SRP68 p.Ala535Val Uncertain significance Single submitter
- SRP68 p.Arg152Trp Uncertain significance Single submitter
- SRP68 p.Arg160His Uncertain significance Single submitter
- SRP68 p.Arg171Ser Uncertain significance Single submitter
- SRP68 p.Arg198His Uncertain significance Single submitter
- SRP68 p.Arg236Cys Uncertain significance Single submitter
- SRP68 p.Arg352Gln Uncertain significance Single submitter
- SRP68 p.Arg394Cys Uncertain significance Single submitter
- SRP68 p.Arg404Met Uncertain significance Single submitter
- SRP68 p.Arg43Gly Uncertain significance Single submitter
- SRP68 p.Arg557Trp Uncertain significance Single submitter
- SRP68 p.Arg76Gln Uncertain significance Single submitter
- SRP68 p.Asn121Asp Uncertain significance Single submitter
- SRP68 p.Asn99Ser Uncertain significance Single submitter
- SRP68 p.Asp537Asn Uncertain significance Single submitter
- SRP68 p.Cys525Tyr Uncertain significance Single submitter
- SRP68 p.Gln408His Uncertain significance Single submitter
- SRP68 p.Gln422His Uncertain significance Single submitter
- SRP68 p.Gln451His Uncertain significance Single submitter
- SRP68 p.Gln471Arg Uncertain significance Single submitter
- SRP68 p.Glu321Lys Uncertain significance Single submitter
- SRP68 p.Glu367Ala Uncertain significance Single submitter
- SRP68 p.Gly300Arg Uncertain significance Single submitter
- SRP68 p.Gly35Arg Uncertain significance Single submitter
- SRP68 p.Gly55Arg Uncertain significance Single submitter
- SRP68 p.Gly617Arg Uncertain significance Single submitter
- SRP68 p.His539Tyr Uncertain significance Single submitter
- SRP68 p.Ile217Val Uncertain significance Single submitter
- SRP68 p.Ile307Thr Uncertain significance Single submitter
- SRP68 p.Ile365Val Uncertain significance Single submitter
- SRP68 p.Leu483Val Uncertain significance Single submitter
- SRP68 p.Leu589Ser Uncertain significance Single submitter
- SRP68 p.Lys101Arg Uncertain significance Single submitter
- SRP68 p.Met263Leu Uncertain significance Single submitter
- SRP68 p.Phe503Leu Uncertain significance Single submitter
- SRP68 p.Phe54Ile Uncertain significance Single submitter
- SRP68 p.Phe54Ser Uncertain significance Single submitter
- SRP68 p.Pro419Ser Uncertain significance Single submitter
- SRP68 p.Pro421Leu Uncertain significance Single submitter
- SRP68 p.Ser27Gly Uncertain significance Single submitter
- SRP68 p.Ser415Arg Uncertain significance Single submitter
- SRP68 p.Ser480Asn Uncertain significance Single submitter
- SRP68 p.Ser522Ala Uncertain significance Single submitter
- SRP68 p.Ser526Phe Uncertain significance Single submitter
- SRP68 p.Thr109Ala Uncertain significance Single submitter
- SRP68 p.Thr283Ser Uncertain significance Single submitter
- SRP68 p.Thr384Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- SRP68 p.Arg394His Uncertain significance Single submitter
- SRP68 p.Asn494Ile Uncertain significance Single submitter
- SRP68 p.Gln187Arg Uncertain significance Single submitter
- SRP68 p.Gly25Val Uncertain significance Single submitter
- SRP68 p.Gly26Cys Uncertain significance Single submitter
- SRP68 p.Gly26Val Uncertain significance Single submitter
- SRP68 p.Gly272Cys Uncertain significance Single submitter
- SRP68 p.Gly28Asp Uncertain significance Single submitter
- SRP68 p.Leu407Pro Uncertain significance Single submitter
- SRP68 p.Thr114Ala Uncertain significance Single submitter
- SRP68 p.Thr147Ala Uncertain significance Single submitter
- SRP68 p.Val163Met Uncertain significance Single submitter
All SRP68 variants
Pathogenic 1
- c.184+2T>C No assertion criteria neutropenia, severe congenital, 10, autosomal recessive
Likely benign 4
- p.Arg557= Single submitter
- p.Arg84= Single submitter
- p.Gly20= Single submitter
- p.Lys448Arg Single submitter
Uncertain significance 71
- p.Ala138Ser Single submitter ⚠
- p.Ala275Val Single submitter ⚠
- p.Ala280Gly Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala502Thr Single submitter ⚠
- p.Ala535Val Single submitter ⚠
- p.Arg152Trp Single submitter ⚠
- p.Arg160His Single submitter ⚠
- p.Arg171Ser Single submitter ⚠
- p.Arg198His Single submitter ⚠
- p.Arg236Cys Single submitter ⚠
- p.Arg352Gln Single submitter ⚠
- p.Arg394Cys Single submitter ⚠
- p.Arg394His Single submitter ⚠
- p.Arg404Met Single submitter ⚠
- p.Arg43Gly Single submitter ⚠
- p.Arg557Trp Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Asn121Asp Single submitter ⚠
- p.Asn494Ile Single submitter ⚠
- p.Asn99Ser Single submitter ⚠
- p.Asp537Asn Single submitter ⚠
- p.Cys525Tyr Single submitter ⚠
- p.Gln187Arg Single submitter ⚠
- p.Gln202His Single submitter
- p.Gln408His Single submitter ⚠
- p.Gln422His Single submitter ⚠
- p.Gln451His Single submitter ⚠
- p.Gln471Arg Single submitter ⚠
- p.Glu321Lys Single submitter ⚠
- p.Glu367Ala Single submitter ⚠
- p.Gly25Val Single submitter ⚠
- p.Gly26Cys Single submitter ⚠
- p.Gly26Val Single submitter ⚠
- p.Gly272Cys Single submitter ⚠
- p.Gly28Asp Single submitter ⚠
- p.Gly300Arg Single submitter ⚠
- p.Gly35Arg Single submitter ⚠
- p.Gly443Ser Single submitter
- p.Gly55Arg Single submitter ⚠
- p.Gly617Arg Single submitter ⚠
- p.His539Tyr Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile307Thr Single submitter ⚠
- p.Ile365Val Single submitter ⚠
- p.Leu407Pro Single submitter ⚠
- p.Leu483Val Single submitter ⚠
- p.Leu589Ser Single submitter ⚠
- p.Leu595Phe Single submitter
- p.Lys101Arg Single submitter ⚠
- p.Lys524Met Single submitter
- p.Met263Leu Single submitter ⚠
- p.Phe503Leu Single submitter ⚠
- p.Phe54Ile Single submitter ⚠
- p.Phe54Ser Single submitter ⚠
- p.Pro149Leu Single submitter
- p.Pro419Ser Single submitter ⚠
- p.Pro421Leu Single submitter ⚠
- p.Ser27Gly Single submitter ⚠
- p.Ser415Arg Single submitter ⚠
- p.Ser480Asn Single submitter ⚠
- p.Ser522Ala Single submitter ⚠
- p.Ser526Phe Single submitter ⚠
- p.Ser88Cys Single submitter
- p.Thr109Ala Single submitter ⚠
- p.Thr114Ala Single submitter ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr283Ser Single submitter ⚠
- p.Thr384Ile Single submitter ⚠
- p.Val163Met Single submitter ⚠
- p.Val460Gly Single submitter