CYFIP1 — 201 ClinVar variants

All ClinVar germline CYFIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

1 Conflicting · 17 Benign · 4 Benign/Likely benign · 25 Likely benign · 154 Uncertain significance

Full CYFIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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.

CYFIP1 p.Gly820Asp Conflicting Single submitter

Predictors lean, ClinVar uncertain 93

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

Predictors split 63

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

All CYFIP1 variants

Conflicting classifications of pathogenicity 1

p.Gly820Asp Single submitter ⚠

Benign 17

c.666+7del Multiple submitters
p.Ala1003Val Multiple submitters ⚠
p.Ala385Thr Multiple submitters ⚠
p.Glu347= Multiple submitters
p.Ile795Val Multiple submitters
p.Leu1201= Multiple submitters
p.Pro1033= Multiple submitters
p.Ser659= Multiple submitters
p.Tyr836= Multiple submitters
c.1233+9C>G Single submitter
c.666+3_666+6dup Single submitter
c.993-7T>C Single submitter
p.Ile29= Single submitter
p.Leu158= Single submitter
p.Leu461= Single submitter
p.Leu758= Single submitter
p.Tyr746= Single submitter

Benign/Likely benign 4

c.3043-4C>G Multiple submitters
p.Gly903Ser Multiple submitters
p.Tyr1054= Multiple submitters
p.Val304= Multiple submitters

Likely benign 25

p.Thr817= Multiple submitters
c.1675-307G>A Single submitter
c.-238G>A Single submitter
c.-6-?_*563+?del Single submitter
p.Ala1045= Single submitter
p.Ala1055= Single submitter
p.Ala51= Single submitter
p.Arg1110= Single submitter
p.Arg550= Single submitter
p.Asp1122= Single submitter
p.Gln1012= Single submitter
p.Gly1233Ser Single submitter
p.His525= Single submitter
p.His842= Single submitter
p.His965= Single submitter
p.Pro1112= Single submitter
p.Pro27= Single submitter
p.Pro429= Single submitter
p.Ser431Asn Single submitter
p.Thr321= Single submitter
p.Tyr325= Single submitter
p.Val1019= Single submitter
p.Val452= Single submitter
c.1675-209C>T No assertion criteria CYFIP1-related disorder
c.3210+6G>A No assertion criteria CYFIP1-related disorder

Uncertain significance 154

p.Phe600Leu Multiple submitters atrial septal defect ⚠
p.Ala1003Thr Single submitter ⚠
p.Ala1025Val Single submitter ⚠
p.Ala364Thr Single submitter ⚠
p.Ala364Val Single submitter ⚠
p.Ala385Val Single submitter ⚠
p.Ala432Thr Single submitter ⚠
p.Ala450Ser Single submitter atrial septal defect ⚠
p.Ala475Gly Single submitter ⚠
p.Ala482Thr Single submitter ⚠
p.Ala658Glu Single submitter ⚠
p.Ala675Thr Single submitter ⚠
p.Ala823Thr Single submitter ⚠
p.Ala883Val Single submitter ⚠
p.Ala927Thr Single submitter ⚠
p.Arg1034Gln Single submitter ⚠
p.Arg1099Trp Single submitter ⚠
p.Arg1101Leu Single submitter ⚠
p.Arg1110His Single submitter ⚠
p.Arg1173Cys Single submitter ⚠
p.Arg1173His Single submitter ⚠
p.Arg1209Cys Single submitter ⚠
p.Arg1209His Single submitter ⚠
p.Arg1240Cys Single submitter ⚠
p.Arg135His Single submitter ⚠
p.Arg365Cys Single submitter ⚠
p.Arg377His Single submitter ⚠
p.Arg388Cys Single submitter ⚠
p.Arg388Gly Single submitter ⚠
p.Arg467Gly Single submitter ⚠
p.Arg726Trp Single submitter ⚠
p.Arg728Gln Single submitter ⚠
p.Arg760Ser Single submitter ⚠
p.Arg771Cys Single submitter ⚠
p.Arg771His Single submitter ⚠
p.Arg806Cys Single submitter ⚠
p.Arg806His Single submitter ⚠
p.Arg866Gln Single submitter ⚠
p.Arg919Gln Single submitter ⚠
p.Asn103Lys Single submitter ⚠
p.Asn505Thr Single submitter ⚠
p.Asn529Ser Single submitter ⚠
p.Asn607Asp Single submitter ⚠
p.Asn607Thr Single submitter ⚠
p.Asn858His Single submitter ⚠
p.Asp1122Gly Single submitter ⚠
p.Asp24Asn Single submitter ⚠
p.Asp538Glu Single submitter ⚠
p.Asp538Gly Single submitter ⚠
p.Asp538His Single submitter ⚠
p.Asp538Val Single submitter ⚠
p.Cys1124Arg Single submitter ⚠
p.Cys334Arg Single submitter ⚠
p.Gln1012His Single submitter ⚠
p.Gln1151Leu Single submitter ⚠
p.Gln226Pro Single submitter ⚠
p.Gln4Arg Single submitter ⚠
p.Gln709His Single submitter ⚠
p.Gln915Glu Single submitter ⚠
p.Gln915Lys Single submitter ⚠
p.Gln924His Single submitter ⚠
p.Gln942His Single submitter ⚠
p.Glu1123Lys Single submitter ⚠
p.Glu379Lys Single submitter ⚠
p.Gly1111Arg Single submitter ⚠
p.Gly1191Ser Single submitter ⚠
p.Gly1231Glu Single submitter ⚠
p.Gly376Asp Single submitter ⚠
p.Gly376Ser Single submitter ⚠
p.Gly524Arg Single submitter ⚠
p.Gly575Ser Single submitter ⚠
p.Gly859Ser Single submitter ⚠
p.Gly903Asp Single submitter ⚠
p.His1238Asp Single submitter ⚠
p.His145Tyr Single submitter ⚠
p.His407Gln Single submitter ⚠
p.His525Tyr Single submitter ⚠
p.His978Tyr Single submitter ⚠
p.Ile1074Val Single submitter CYFIP1-related disorder ⚠
p.Ile1219Thr Single submitter ⚠
p.Ile220Val Single submitter ⚠
p.Ile241Thr Single submitter ⚠
p.Ile350Met Single submitter ⚠
p.Ile545Val Single submitter ⚠
p.Ile56Met Single submitter ⚠
p.Ile570Thr Single submitter ⚠
p.Ile640Thr Single submitter ⚠
p.Ile652Val Single submitter ⚠
p.Ile784Thr Single submitter ⚠
p.Leu1226Val Single submitter ⚠
p.Leu264Val Single submitter ⚠
p.Leu398Gln Single submitter ⚠
p.Leu590Met Single submitter ⚠
p.Leu722Phe Single submitter ⚠
p.Leu894Phe Single submitter ⚠
p.Lys1083Arg Single submitter ⚠
p.Lys1185Glu Single submitter ⚠
p.Lys1224Glu Single submitter ⚠
p.Lys297Arg Single submitter ⚠
p.Met1092Thr Single submitter ⚠
p.Met1092Val Single submitter ⚠
p.Met1119Val Single submitter ⚠
p.Met1134Leu Single submitter ⚠
p.Met123Thr Single submitter ⚠
p.Met409Thr Single submitter ⚠
p.Met561Val Single submitter ⚠
p.Met717Thr Single submitter ⚠
p.Met776Ile Single submitter ⚠
p.Met776Thr Single submitter ⚠
p.Met807Val Single submitter ⚠
p.Met824Val Single submitter ⚠
p.Met82Thr Single submitter ⚠
p.Phe702Tyr Single submitter ⚠
p.Pro1033Leu Single submitter ⚠
p.Pro1056Leu Single submitter ⚠
p.Pro1235Leu Single submitter ⚠
p.Pro1235Ser Single submitter ⚠
p.Pro1245Ser Single submitter ⚠
p.Pro257Ser Single submitter ⚠
p.Pro742Leu Single submitter ⚠
p.Pro835Leu Single submitter ⚠
p.Ser293Pro Single submitter ⚠
p.Ser34Tyr Single submitter ⚠
p.Ser470Asn Single submitter ⚠
p.Ser619Leu Single submitter ⚠
p.Ser659Leu Single submitter ⚠
p.Ser813Asn Single submitter ⚠
p.Ser860Cys Single submitter ⚠
p.Ser90Phe Single submitter ⚠
p.Thr1068Ile Single submitter ⚠
p.Thr1220Ile Single submitter ⚠
p.Thr335Ala Single submitter ⚠
p.Thr649Met Single submitter ⚠
p.Thr737Met Single submitter ⚠
p.Thr748Met Single submitter ⚠
p.Thr817Met Single submitter ⚠
p.Thr991Met Single submitter ⚠
p.Tyr282Cys Single submitter ⚠
p.Tyr602His Single submitter ⚠
p.Tyr815Asp Single submitter ⚠
p.Tyr887His Single submitter ⚠
p.Val112Met Single submitter ⚠
p.Val140Leu Single submitter ⚠
p.Val153Met Single submitter ⚠
p.Val170Leu Single submitter ⚠
p.Val304Met Single submitter ⚠
p.Val471Met Single submitter ⚠
p.Val480Ile Single submitter ⚠
p.Val772Ile Single submitter ⚠
p.Val843Ile Single submitter ⚠
p.Val928Met Single submitter ⚠
p.Val929Ala Single submitter ⚠
p.Val937Ala Single submitter ⚠
p.Val949Gly Single submitter ⚠