KHSRP — 63 ClinVar variants
All ClinVar germline KHSRP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
4 Benign · 3 Likely benign · 56 Uncertain significance
Full KHSRP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KHSRP p.Ala23Ser Uncertain significance Single submitter
- KHSRP p.Ala534Thr Uncertain significance Single submitter
- KHSRP p.Ala565Thr Uncertain significance Single submitter
- KHSRP p.Ala595Thr Uncertain significance Single submitter
- KHSRP p.Ala687Thr Uncertain significance Single submitter
- KHSRP p.Arg314Gln Uncertain significance Single submitter
- KHSRP p.Asn419Ser Uncertain significance Single submitter
- KHSRP p.Asp469His Uncertain significance Single submitter
- KHSRP p.Gln172Glu Uncertain significance Single submitter
- KHSRP p.Gly18Ser Uncertain significance Single submitter
- KHSRP p.Gly20Ser Uncertain significance Single submitter
- KHSRP p.Gly253Arg Uncertain significance Single submitter
- KHSRP p.Gly322Ser Uncertain significance Single submitter
- KHSRP p.Gly403Ala Uncertain significance Single submitter
- KHSRP p.Gly507Ala Uncertain significance Single submitter
- KHSRP p.Gly53Val Uncertain significance Single submitter
- KHSRP p.Gly546Ala Uncertain significance Single submitter
- KHSRP p.Gly593Ser Uncertain significance Single submitter
- KHSRP p.Gly90Ser Uncertain significance Single submitter
- KHSRP p.Ile137Val Uncertain significance Single submitter
- KHSRP p.Ile69Met Uncertain significance Single submitter
- KHSRP p.Pro140Thr Uncertain significance Single submitter
- KHSRP p.Pro398Ser Uncertain significance Single submitter
- KHSRP p.Pro408Leu Uncertain significance Single submitter
- KHSRP p.Pro50Ala Uncertain significance Single submitter
- KHSRP p.Pro50Ser Uncertain significance Single submitter
- KHSRP p.Pro552Ser Uncertain significance Single submitter
- KHSRP p.Pro58Leu Uncertain significance Single submitter
- KHSRP p.Pro633Ala Uncertain significance Single submitter
- KHSRP p.Pro636Ser Uncertain significance Single submitter
- KHSRP p.Pro664Ala Uncertain significance Single submitter
- KHSRP p.Pro67Leu Uncertain significance Single submitter
- KHSRP p.Ser181Phe Uncertain significance Single submitter
- KHSRP p.Ser54Pro Uncertain significance Single submitter
- KHSRP p.Ser99Asn Uncertain significance Single submitter
- KHSRP p.Thr703Met Uncertain significance Single submitter
- KHSRP p.Val591Gly Uncertain significance Single submitter
- KHSRP p.Val658Ala Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- KHSRP p.Ala574Thr Uncertain significance Single submitter
- KHSRP p.Asp571Asn Uncertain significance Single submitter
- KHSRP p.Cys296Ser Uncertain significance Single submitter
- KHSRP p.Glu380Gly Uncertain significance Single submitter
- KHSRP p.Gly135Arg Uncertain significance Single submitter
- KHSRP p.Gly29Cys Uncertain significance Single submitter
- KHSRP p.Ile285Val Uncertain significance Single submitter
- KHSRP p.Pro11Thr Uncertain significance Single submitter
- KHSRP p.Pro398Leu Uncertain significance Single submitter
- KHSRP p.Pro398Thr Uncertain significance Single submitter
- KHSRP p.Pro538Leu Uncertain significance Single submitter
- KHSRP p.Pro552Leu Uncertain significance Single submitter
- KHSRP p.Pro557Leu Uncertain significance Single submitter
- KHSRP p.Pro588Leu Uncertain significance Single submitter
- KHSRP p.Pro602Leu Uncertain significance Single submitter
- KHSRP p.Pro701Leu Uncertain significance Single submitter
- KHSRP p.Thr645Met Uncertain significance Single submitter
All KHSRP variants
Benign 4
Uncertain significance 56
- c.385+2T>G Single submitter
- p.Ala23Ser Single submitter ⚠
- p.Ala534Thr Single submitter ⚠
- p.Ala565Thr Single submitter ⚠
- p.Ala574Thr Single submitter ⚠
- p.Ala595Thr Single submitter ⚠
- p.Ala687Thr Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Asn419Ser Single submitter ⚠
- p.Asp469His Single submitter ⚠
- p.Asp571Asn Single submitter ⚠
- p.Cys296Ser Single submitter ⚠
- p.Gln172Glu Single submitter ⚠
- p.Glu380Gly Single submitter ⚠
- p.Gly135Arg Single submitter ⚠
- p.Gly18Ser Single submitter ⚠
- p.Gly20Ser Single submitter ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly29Cys Single submitter ⚠
- p.Gly322Ser Single submitter ⚠
- p.Gly403Ala Single submitter ⚠
- p.Gly507Ala Single submitter ⚠
- p.Gly53Val Single submitter ⚠
- p.Gly546Ala Single submitter ⚠
- p.Gly593Ser Single submitter ⚠
- p.Gly90Ser Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile285Val Single submitter ⚠
- p.Ile69Met Single submitter ⚠
- p.Pro11Thr Single submitter ⚠
- p.Pro140Thr Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro398Ser Single submitter ⚠
- p.Pro398Thr Single submitter ⚠
- p.Pro408Leu Single submitter ⚠
- p.Pro50Ala Single submitter ⚠
- p.Pro50Ser Single submitter ⚠
- p.Pro538Leu Single submitter ⚠
- p.Pro552Leu Single submitter ⚠
- p.Pro552Ser Single submitter ⚠
- p.Pro557Leu Single submitter ⚠
- p.Pro588Leu Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Pro602Leu Single submitter ⚠
- p.Pro633Ala Single submitter ⚠
- p.Pro636Ser Single submitter ⚠
- p.Pro664Ala Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Pro701Leu Single submitter ⚠
- p.Ser181Phe Single submitter ⚠
- p.Ser54Pro Single submitter ⚠
- p.Ser99Asn Single submitter ⚠
- p.Thr645Met Single submitter ⚠
- p.Thr703Met Single submitter ⚠
- p.Val591Gly Single submitter ⚠
- p.Val658Ala Single submitter ⚠