ROCK1 — 80 ClinVar variants

All ClinVar germline ROCK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

3 Benign · 2 Benign/Likely benign · 4 Likely benign · 71 Uncertain significance

Full ROCK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 51

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 12

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

All ROCK1 variants

Benign 3

p.Arg926= Multiple submitters
p.Thr773Ser Multiple submitters
c.2655-3C>T Single submitter

Benign/Likely benign 2

c.1051+8T>C Multiple submitters
p.Ser595= Multiple submitters

Likely benign 4

p.Arg840= Single submitter
p.Glu244= Single submitter
p.Leu645= Single submitter
p.Tyr269= Single submitter

Uncertain significance 71

p.Ala119Val Single submitter ⚠
p.Ala409Gly Single submitter ⚠
p.Ala612Thr Single submitter ⚠
p.Ala794Thr Single submitter ⚠
p.Arg1028Lys Single submitter ⚠
p.Arg326Gln Single submitter ⚠
p.Arg555Lys Single submitter ⚠
p.Arg590Gln Single submitter ⚠
p.Arg683Gln Single submitter ⚠
p.Arg733Gln Single submitter ⚠
p.Arg783Trp Single submitter ⚠
p.Arg819Lys Single submitter ⚠
p.Arg84Thr Single submitter ⚠
p.Arg940Trp Single submitter ⚠
p.Asn1241Ser Single submitter ⚠
p.Asn132Ser Single submitter ⚠
p.Asn167Ser Single submitter ⚠
p.Asn16Ser Single submitter ⚠
p.Asn295Ile Single submitter ⚠
p.Asn54Asp Single submitter ⚠
p.Asn761Ser Single submitter ⚠
p.Asp1288Glu Single submitter ⚠
p.Asp302Gly Single submitter
p.Asp893Val Single submitter
p.Cys1283Ser Single submitter ⚠
p.Cys741Arg Single submitter ⚠
p.Gln138fs Single submitter
p.Gln827Arg Single submitter ⚠
p.Gln859His Single submitter ⚠
p.Glu1031fs Single submitter
p.Glu487Asp Single submitter ⚠
p.Glu654Asp Single submitter ⚠
p.Glu706Gly Single submitter ⚠
p.Glu873fs Single submitter
p.Glu930Asp Single submitter ⚠
p.Glu942Lys Single submitter ⚠
p.Glu961Asp Single submitter ⚠
p.His293fs Single submitter
p.Ile1150Val Single submitter ⚠
p.Ile1170Val Single submitter ⚠
p.Ile363Val Single submitter ⚠
p.Ile383Val Single submitter ⚠
p.Ile82Val Single submitter ⚠
p.Leu161Ile Single submitter
p.Leu535Phe Single submitter ⚠
p.Leu585Met Single submitter ⚠
p.Leu645Val Single submitter ⚠
p.Leu803Val Single submitter ⚠
p.Leu908Phe Single submitter ⚠
p.Leu941Phe Single submitter ⚠
p.Lys1021Arg Single submitter ⚠
p.Lys1083Arg Single submitter ⚠
p.Lys208Thr Single submitter ⚠
p.Lys666Arg Single submitter ⚠
p.Met165fs Single submitter
p.Met449Ile Single submitter ⚠
p.Met839Thr Single submitter ⚠
p.Pro1117Thr Single submitter ⚠
p.Pro1233Leu Single submitter ⚠
p.Pro382Ala Single submitter ⚠
p.Ser116Pro Single submitter ⚠
p.Ser401Asn Single submitter ⚠
p.Ser407Phe Single submitter ⚠
p.Ser407Pro Single submitter ⚠
p.Ser567Arg Single submitter ⚠
p.Ser920Asn Single submitter ⚠
p.Ser946Asn Single submitter ⚠
p.Thr917Met Single submitter ⚠
p.Thr937Ser Single submitter ⚠
p.Tyr76His Single submitter ⚠
p.Val562Ala Single submitter ⚠