CRIM1 — 206 ClinVar variants

All ClinVar germline CRIM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

1 Conflicting · 11 Benign · 4 Benign/Likely benign · 33 Likely benign · 157 Uncertain significance

Full CRIM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 149

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CRIM1 p.Pro577Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 124

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

Predictors split 24

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

All CRIM1 variants

Conflicting classifications of pathogenicity 1

p.Pro577Ala Single submitter ⚠

Benign 11

c.1501+10C>G Multiple submitters
c.331+5G>A Multiple submitters
p.Arg996Gly Multiple submitters
p.Cys359= Multiple submitters
p.Lys233= Multiple submitters
p.Thr441= Multiple submitters
p.Pro269= Single submitter
p.Val108= Single submitter
p.Glu502Lys No assertion criteria CRIM1-related disorder
p.Gly9Val No assertion criteria CRIM1-related disorder
p.Leu26Met No assertion criteria CRIM1-related disorder

Benign/Likely benign 4

p.Ala435= Multiple submitters
p.Gly402= Multiple submitters
p.His623= Multiple submitters
p.Ile910= Multiple submitters

Likely benign 33

p.Pro856Ser Multiple submitters
c.1780+16T>C Single submitter
c.2206+16C>T Single submitter
c.2747-8T>C Single submitter
c.331+8C>A Single submitter
c.749-9C>T Single submitter
p.Ala267Val Single submitter
p.Ala597= Single submitter
p.Asn226= Single submitter
p.Cys210= Single submitter
p.Cys789= Single submitter
p.Glu47= Single submitter
p.Glu672= Single submitter
p.Gly252Ser Single submitter
p.Ile483Val Single submitter
p.Leu230= Single submitter
p.Leu244= Single submitter
p.Leu27del Single submitter
p.Leu550Phe Single submitter
p.Leu951= Single submitter
p.Leu986= Single submitter
p.Ser156Arg Single submitter ⚠
p.Thr368= Single submitter
p.Thr65= Single submitter
p.Thr847= Single submitter
p.Thr977Ala Single submitter
p.Val427Ile Single submitter
p.Val611Met Single submitter
c.506-8C>T No assertion criteria CRIM1-related disorder
p.Asp560= No assertion criteria CRIM1-related disorder
p.His412Pro No assertion criteria CRIM1-related disorder
p.Ile529Met No assertion criteria CRIM1-related disorder
p.Thr436= No assertion criteria CRIM1-related disorder

Uncertain significance 157

p.Phe367Leu Multiple submitters ⚠
p.Ala401Thr Single submitter ⚠
p.Ala411Val Single submitter ⚠
p.Ala681Thr Single submitter ⚠
p.Ala941Thr Single submitter ⚠
p.Ala956Val Single submitter ⚠
p.Arg146Gln Single submitter ⚠
p.Arg178Cys Single submitter ⚠
p.Arg178His Single submitter ⚠
p.Arg178Leu Single submitter ⚠
p.Arg219Cys Single submitter ⚠
p.Arg256Gly Single submitter ⚠
p.Arg310Cys Single submitter ⚠
p.Arg310His Single submitter ⚠
p.Arg355Gln Single submitter ⚠
p.Arg355Trp Single submitter ⚠
p.Arg358Gln Single submitter ⚠
p.Arg415Gln Single submitter ⚠
p.Arg415Gly Single submitter
p.Arg415Trp Single submitter ⚠
p.Arg417Gln Single submitter ⚠
p.Arg417Trp Single submitter
p.Arg494Trp Single submitter ⚠
p.Arg508Cys Single submitter ⚠
p.Arg533His Single submitter ⚠
p.Arg707Gln Single submitter ⚠
p.Arg707Trp Single submitter ⚠
p.Arg70Lys Single submitter ⚠
p.Arg725Cys Single submitter ⚠
p.Arg740Trp Single submitter ⚠
p.Arg892Gln Single submitter ⚠
p.Arg974Gln Single submitter ⚠
p.Arg974Gly Single submitter ⚠
p.Asn1025Thr Single submitter ⚠
p.Asn137Ser Single submitter ⚠
p.Asn213Lys Single submitter ⚠
p.Asn340Lys Single submitter ⚠
p.Asn491Ser Single submitter ⚠
p.Asn97Ser Single submitter ⚠
p.Asp1030Val Single submitter ⚠
p.Asp352Gly Single submitter ⚠
p.Asp828Asn Single submitter ⚠
p.Asp833Asn Single submitter ⚠
p.Asp99His Single submitter ⚠
p.Cys13Arg Single submitter ⚠
p.Cys174Phe Single submitter ⚠
p.Cys303Tyr Single submitter ⚠
p.Cys564Phe Single submitter ⚠
p.Cys703Arg Single submitter ⚠
p.Cys734Ser Single submitter ⚠
p.Gln1028His Single submitter ⚠
p.Gln182His Single submitter ⚠
p.Gln425Arg Single submitter ⚠
p.Gln510His Single submitter ⚠
p.Gln525Pro Single submitter ⚠
p.Gln737Arg Single submitter ⚠
p.Gln921Arg Single submitter ⚠
p.Glu110Gln Single submitter ⚠
p.Glu259Gly Single submitter ⚠
p.Glu292Lys Single submitter
p.Glu457Lys Single submitter
p.Glu528Lys Single submitter ⚠
p.Glu628Ter Single submitter
p.Glu72Gly Single submitter ⚠
p.Glu861Gln Single submitter ⚠
p.Glu898Gly Single submitter ⚠
p.Gly22Val Single submitter ⚠
p.Gly299Ala Single submitter ⚠
p.Gly413Arg Single submitter ⚠
p.Gly485Asp Single submitter ⚠
p.Gly519Val Single submitter ⚠
p.Gly586Ala Single submitter ⚠
p.Gly706Arg Single submitter ⚠
p.Gly918Cys Single submitter ⚠
p.His490Arg Single submitter ⚠
p.His557Arg Single submitter
p.His919Arg Single submitter ⚠
p.Ile136Val Single submitter ⚠
p.Ile461Val Single submitter ⚠
p.Ile695Thr Single submitter ⚠
p.Ile809Arg Single submitter ⚠
p.Ile884Thr Single submitter ⚠
p.Ile886Met Single submitter ⚠
p.Ile910Thr Single submitter ⚠
p.Ile940Thr Single submitter ⚠
p.Ile954Thr Single submitter ⚠
p.Leu164Val Single submitter ⚠
p.Leu244Phe Single submitter ⚠
p.Leu287Phe Single submitter ⚠
p.Leu294Pro Single submitter ⚠
p.Leu3Val Single submitter ⚠
p.Leu604Met Single submitter ⚠
p.Leu843Pro Single submitter ⚠
p.Leu969Val Single submitter ⚠
p.Lys220Ile Single submitter ⚠
p.Lys248Thr Single submitter ⚠
p.Lys447Ile Single submitter
p.Lys815Glu Single submitter ⚠
p.Lys963Asn Single submitter ⚠
p.Met1005Leu Single submitter ⚠
p.Met1021Val Single submitter ⚠
p.Met348Thr Single submitter ⚠
p.Met872Val Single submitter ⚠
p.Phe1018Ile Single submitter ⚠
p.Phe300Leu Single submitter ⚠
p.Phe300Ser Single submitter ⚠
p.Phe666fs Single submitter
p.Pro200Ala Single submitter ⚠
p.Pro200Leu Single submitter ⚠
p.Pro205Arg Single submitter ⚠
p.Pro238Leu Single submitter ⚠
p.Pro262Ala Single submitter ⚠
p.Pro269Ala Single submitter ⚠
p.Pro270Thr Single submitter ⚠
p.Pro396His Single submitter ⚠
p.Pro467Ser Single submitter ⚠
p.Pro541Thr Single submitter ⚠
p.Pro655Thr Single submitter ⚠
p.Pro717Leu Single submitter ⚠
p.Pro741Leu Single submitter ⚠
p.Pro856Leu Single submitter ⚠
p.Pro856Thr Single submitter ⚠
p.Pro881Ser Single submitter ⚠
p.Pro900Leu Single submitter ⚠
p.Pro946Ser Single submitter ⚠
p.Pro979Ala Single submitter ⚠
p.Ser1016Ile Single submitter ⚠
p.Ser1020Asn Single submitter ⚠
p.Ser19Trp Single submitter ⚠
p.Ser605Leu Single submitter ⚠
p.Ser621Ile Single submitter ⚠
p.Ser780Gly Single submitter ⚠
p.Ser788Thr Single submitter ⚠
p.Ser791Pro Single submitter ⚠
p.Ser868Gly Single submitter ⚠
p.Ser906Ile Single submitter ⚠
p.Thr102Pro Single submitter ⚠
p.Thr115Ser Single submitter ⚠
p.Thr607Ile Single submitter ⚠
p.Thr692Met Single submitter ⚠
p.Thr726Ile Single submitter ⚠
p.Trp972Arg Single submitter
p.Tyr273Cys Single submitter ⚠
p.Tyr380Phe Single submitter ⚠
p.Tyr395Phe Single submitter ⚠
p.Tyr807His Single submitter ⚠
p.Tyr877Cys Single submitter ⚠
p.Val258Met Single submitter ⚠
p.Val302Met Single submitter ⚠
p.Val389Leu Single submitter
p.Val434Ile Single submitter ⚠
p.Val446Leu Single submitter ⚠
p.Val668Met Single submitter ⚠
p.Val781Ile Single submitter ⚠
p.Val798Ile Single submitter ⚠
p.Val91Leu Single submitter ⚠
p.Val944Leu Single submitter ⚠