SHPRH — 182 ClinVar variants

All ClinVar germline SHPRH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →

2 Benign · 8 Likely benign · 172 Uncertain significance

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

⚑ Evidence disagreements 164

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 137

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

Predictors split 27

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

All SHPRH variants

Benign 2

c.4009-10A>G Single submitter
p.Asp159Ala Single submitter

Likely benign 8

c.3546-7G>C Single submitter
p.Asp606Asn Single submitter
p.Asp640Gly Single submitter
p.Lys156Glu Single submitter
p.Ser621Phe Single submitter
p.Thr648Ile Single submitter
p.Thr966= Single submitter
p.Val97= Single submitter

Uncertain significance 172

p.Ala1099Val Single submitter ⚠
p.Ala1344Ser Single submitter ⚠
p.Ala1351Thr Single submitter ⚠
p.Ala1658Ser Single submitter ⚠
p.Ala52Thr Single submitter ⚠
p.Ala66Ser Single submitter ⚠
p.Ala904Thr Single submitter ⚠
p.Arg1052His Single submitter ⚠
p.Arg1091His Single submitter ⚠
p.Arg1094Gln Single submitter ⚠
p.Arg1103Gln Single submitter ⚠
p.Arg1163Gln Single submitter ⚠
p.Arg1560Cys Single submitter ⚠
p.Arg233Gly Single submitter
p.Arg309Thr Single submitter ⚠
p.Arg30Lys Single submitter ⚠
p.Arg336Gln Single submitter ⚠
p.Arg443His Single submitter ⚠
p.Arg480Lys Single submitter ⚠
p.Arg5Gln Single submitter ⚠
p.Arg5Trp Single submitter
p.Arg658His Single submitter ⚠
p.Arg674Gly Single submitter ⚠
p.Arg776Cys Single submitter ⚠
p.Arg793His Single submitter ⚠
p.Arg7His Single submitter ⚠
p.Arg843Gln Single submitter ⚠
p.Arg843Leu Single submitter ⚠
p.Arg882Gln Single submitter ⚠
p.Arg882Trp Single submitter ⚠
p.Arg950Lys Single submitter ⚠
p.Asn100Ser Single submitter ⚠
p.Asn110Asp Single submitter ⚠
p.Asn1111Ser Single submitter ⚠
p.Asn147Ser Single submitter ⚠
p.Asn313Ser Single submitter ⚠
p.Asn454Ser Single submitter ⚠
p.Asn695Lys Single submitter ⚠
p.Asn735Ser Single submitter ⚠
p.Asp475Asn Single submitter ⚠
p.Asp518His Single submitter ⚠
p.Asp559Tyr Single submitter ⚠
p.Asp561Gly Single submitter ⚠
p.Asp642Val Single submitter ⚠
p.Asp69Asn Single submitter ⚠
p.Asp69Glu Single submitter ⚠
p.Asp754Asn Single submitter ⚠
p.Asp754His Single submitter ⚠
p.Cys1110Tyr Single submitter ⚠
p.Cys1203Trp Single submitter ⚠
p.Gln1009Arg Single submitter ⚠
p.Gln1101Glu Single submitter ⚠
p.Gln1190His Single submitter ⚠
p.Gln1204Arg Single submitter ⚠
p.Gln1404Arg Single submitter ⚠
p.Gln1420Glu Single submitter ⚠
p.Gln19Arg Single submitter ⚠
p.Gln285Arg Single submitter ⚠
p.Gln296Arg Single submitter ⚠
p.Gln438Glu Single submitter ⚠
p.Gln676Arg Single submitter
p.Gln798His Single submitter ⚠
p.Gln890Arg Single submitter ⚠
p.Glu1157Asp Single submitter ⚠
p.Glu135Lys Single submitter ⚠
p.Glu1494Asp Single submitter ⚠
p.Glu258Gly Single submitter ⚠
p.Glu41Lys Single submitter ⚠
p.Glu516Lys Single submitter ⚠
p.Glu84Gly Single submitter ⚠
p.Glu868Gly Single submitter ⚠
p.Gly1038Asp Single submitter ⚠
p.Gly1085Arg Single submitter
p.Gly1440Arg Single submitter ⚠
p.Gly174Asp Single submitter ⚠
p.Gly90Arg Single submitter ⚠
p.His1105Asp Single submitter
p.His1311Gln Single submitter ⚠
p.His249Arg Single submitter ⚠
p.His332Gln Single submitter ⚠
p.His332Pro Single submitter ⚠
p.His627Asp Single submitter ⚠
p.His627Tyr Single submitter ⚠
p.His737Asp Single submitter ⚠
p.Ile1135Phe Single submitter ⚠
p.Ile1150Val Single submitter ⚠
p.Ile1154Thr Single submitter ⚠
p.Ile1154Val Single submitter ⚠
p.Ile1459Val Single submitter ⚠
p.Ile1638Thr Single submitter ⚠
p.Ile355Val Single submitter ⚠
p.Ile593Val Single submitter ⚠
p.Ile662Val Single submitter ⚠
p.Leu121Phe Single submitter ⚠
p.Leu1407Phe Single submitter
p.Leu21Phe Single submitter ⚠
p.Leu227Phe Single submitter ⚠
p.Leu344Arg Single submitter ⚠
p.Leu367Arg Single submitter ⚠
p.Leu775Pro Single submitter ⚠
p.Lys113Thr Single submitter ⚠
p.Lys1422Asn Single submitter ⚠
p.Lys1474Glu Single submitter ⚠
p.Lys165Arg Single submitter ⚠
p.Lys236Arg Single submitter ⚠
p.Lys422Asn Single submitter ⚠
p.Lys524Glu Single submitter ⚠
p.Lys586Glu Single submitter ⚠
p.Lys62Glu Single submitter ⚠
p.Lys699Arg Single submitter ⚠
p.Lys887Asn Single submitter ⚠
p.Lys887Glu Single submitter ⚠
p.Met1325Val Single submitter ⚠
p.Met245Ile Single submitter ⚠
p.Met710Leu Single submitter ⚠
p.Phe181Val Single submitter ⚠
p.Phe279Leu Single submitter ⚠
p.Phe431Tyr Single submitter ⚠
p.Phe761Ile Single submitter ⚠
p.Phe92Tyr Single submitter ⚠
p.Pro1237Ser Single submitter ⚠
p.Pro125Ala Single submitter ⚠
p.Pro167Leu Single submitter ⚠
p.Pro264Leu Single submitter ⚠
p.Pro306His Single submitter ⚠
p.Pro43Leu Single submitter ⚠
p.Pro440Leu Single submitter
p.Pro531Ser Single submitter ⚠
p.Pro591Ser Single submitter ⚠
p.Pro973Leu Single submitter ⚠
p.Ser104Ala Single submitter ⚠
p.Ser111Ala Single submitter ⚠
p.Ser1259Phe Single submitter ⚠
p.Ser1424Leu Single submitter ⚠
p.Ser1488Thr Single submitter
p.Ser1559Gly Single submitter ⚠
p.Ser3Cys Single submitter ⚠
p.Ser481Asn Single submitter ⚠
p.Ser605Asn Single submitter ⚠
p.Ser787Gly Single submitter ⚠
p.Ser789Asn Single submitter ⚠
p.Ser960Gly Single submitter ⚠
p.Thr1286Ala Single submitter ⚠
p.Thr1481Ile Single submitter ⚠
p.Thr1536Met Single submitter ⚠
p.Thr1648Ala Single submitter ⚠
p.Thr1654Met Single submitter ⚠
p.Thr1679Ala Single submitter ⚠
p.Thr380Arg Single submitter ⚠
p.Thr424Ala Single submitter ⚠
p.Thr538Ile Single submitter ⚠
p.Thr654Ile Single submitter ⚠
p.Trp112Cys Single submitter ⚠
p.Trp1142Leu Single submitter ⚠
p.Tyr1040Cys Single submitter ⚠
p.Tyr106Cys Single submitter ⚠
p.Tyr201Asp Single submitter ⚠
p.Tyr201His Single submitter ⚠
p.Tyr215Cys Single submitter ⚠
p.Tyr347Cys Single submitter ⚠
p.Tyr348Cys Single submitter ⚠
p.Tyr351His Single submitter ⚠
p.Tyr881Cys Single submitter ⚠
p.Tyr884Phe Single submitter ⚠
p.Val1228Phe Single submitter ⚠
p.Val1349Met Single submitter ⚠
p.Val1376Leu Single submitter ⚠
p.Val212Ile Single submitter ⚠
p.Val383Ile Single submitter ⚠
p.Val809Ile Single submitter ⚠
p.Val824Ile Single submitter ⚠
p.Val89Ala Single submitter ⚠