CHRNA7 — 128 ClinVar variants
All ClinVar germline CHRNA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
2 Conflicting · 26 Benign · 23 Likely benign · 77 Uncertain significance
Full CHRNA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHRNA7 p.Asn381Asp Uncertain significance Multiple submitters
- CHRNA7 p.Val374Met Uncertain significance Multiple submitters
- CHRNA7 p.Ala373Pro Uncertain significance Single submitter
- CHRNA7 p.Ala434Val Uncertain significance Single submitter
- CHRNA7 p.Ala444Pro Uncertain significance Single submitter
- CHRNA7 p.Arg228His Uncertain significance Single submitter
- CHRNA7 p.Arg363His Uncertain significance Single submitter
- CHRNA7 p.Arg409His Uncertain significance Single submitter
- CHRNA7 p.Arg446His Uncertain significance Single submitter
- CHRNA7 p.Arg469His Uncertain significance Single submitter
- CHRNA7 p.Asp104Glu Uncertain significance Single submitter
- CHRNA7 p.Asp402Gly Uncertain significance Single submitter
- CHRNA7 p.Asp417Asn Uncertain significance Single submitter
- CHRNA7 p.Asp451Glu Uncertain significance Single submitter
- CHRNA7 p.Cys164Arg Uncertain significance Single submitter
- CHRNA7 p.Cys212Tyr Uncertain significance Single submitter
- CHRNA7 p.Cys241Trp Uncertain significance Single submitter
- CHRNA7 p.Cys357Arg Uncertain significance Single submitter
- CHRNA7 p.Cys397Ser Uncertain significance Single submitter
- CHRNA7 p.Cys3Trp Uncertain significance Single submitter
- CHRNA7 p.Cys407Ser Uncertain significance Single submitter
- CHRNA7 p.Cys412Ser Uncertain significance Single submitter
- CHRNA7 p.Cys449Arg Uncertain significance Single submitter
- CHRNA7 p.Gln425Pro Uncertain significance Single submitter
- CHRNA7 p.Glu428Gln Uncertain significance Single submitter
- CHRNA7 p.Glu459Lys Uncertain significance Single submitter
- CHRNA7 p.Gly174Arg Uncertain significance Single submitter
- CHRNA7 p.Gly382Arg Uncertain significance Single submitter
- CHRNA7 p.Gly382Trp Uncertain significance Single submitter
- CHRNA7 p.Gly388Ser Uncertain significance Single submitter
- CHRNA7 p.Gly423Val Uncertain significance Single submitter
- CHRNA7 p.Gly424Arg Uncertain significance Single submitter
- CHRNA7 p.Gly429Val Uncertain significance Single submitter
- CHRNA7 p.Gly96Arg Uncertain significance Single submitter
- CHRNA7 p.Gly96Glu Uncertain significance Single submitter
- CHRNA7 p.His416Tyr Uncertain significance Single submitter
- CHRNA7 p.His85Asp Uncertain significance Single submitter
- CHRNA7 p.Ile107Val Uncertain significance Single submitter
- CHRNA7 p.Ile387Leu Uncertain significance Single submitter
- CHRNA7 p.Leu60Pro Uncertain significance Single submitter
- CHRNA7 p.Leu87Ser Uncertain significance Single submitter
- CHRNA7 p.Lys346Arg Uncertain significance Single submitter
- CHRNA7 p.Lys352Arg Uncertain significance Single submitter
- CHRNA7 p.Met301Val Uncertain significance Single submitter
- CHRNA7 p.Phe102Leu Uncertain significance Single submitter
- CHRNA7 p.Pro376Leu Uncertain significance Single submitter
- CHRNA7 p.Pro431Leu Uncertain significance Single submitter
- CHRNA7 p.Ser289Leu Uncertain significance Single submitter
- CHRNA7 p.Ser307Leu Uncertain significance Single submitter
- CHRNA7 p.Ser380Gly Uncertain significance Single submitter
- CHRNA7 p.Ser453Asn Uncertain significance Single submitter
- CHRNA7 p.Ser4Leu Uncertain significance Single submitter
-
CHRNA7 p.Thr331Ile
Uncertain significance
Single submitter
chromosome 15q13.3 microdeletion syndrome
- CHRNA7 p.Trp9Leu Uncertain significance Single submitter
- CHRNA7 p.Tyr210His Uncertain significance Single submitter
- CHRNA7 p.Tyr232Cys Uncertain significance Single submitter
- CHRNA7 p.Tyr30Cys Uncertain significance Single submitter
- CHRNA7 p.Tyr86Cys Uncertain significance Single submitter
- CHRNA7 p.Val274Ile Uncertain significance Single submitter
- CHRNA7 p.Val312Leu Uncertain significance Single submitter
- CHRNA7 p.Val333Ile Uncertain significance Single submitter
- CHRNA7 p.Val398Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CHRNA7 p.Ala14Thr Uncertain significance Single submitter
- CHRNA7 p.Ala496Gly Uncertain significance Single submitter
- CHRNA7 p.Arg101His Uncertain significance Single submitter
- CHRNA7 p.Arg332Lys Uncertain significance Single submitter
- CHRNA7 p.Arg441Cys Uncertain significance Single submitter
- CHRNA7 p.Arg441His Uncertain significance Single submitter
- CHRNA7 p.Arg446Cys Uncertain significance Single submitter
- CHRNA7 p.Arg448His Uncertain significance Single submitter
- CHRNA7 p.Asp402Tyr Uncertain significance Single submitter
- CHRNA7 p.Ile112Val Likely benign Single submitter
- CHRNA7 p.Leu33Val Uncertain significance Single submitter
- CHRNA7 p.Ser20Phe Uncertain significance Single submitter
- CHRNA7 p.Thr415Met Uncertain significance Single submitter
All CHRNA7 variants
Conflicting classifications of pathogenicity 2
- p.Arg469Cys Single submitter ⚠
- p.Asp393Gly Single submitter ⚠
Benign 26
- c.240+113C>A Multiple submitters
- c.55+77G>A Multiple submitters
- c.598+86C>T Multiple submitters
- c.599-111T>A Multiple submitters
- c.599-121T>C Multiple submitters
- c.599-122T>C Multiple submitters
- c.793+21C>T Multiple submitters
- c.793+52G>C Multiple submitters
- c.794-129G>A Multiple submitters
- c.794-20G>A Multiple submitters
- c.-46G>T Multiple submitters
- n.27C>T Multiple submitters
- p.Ser307= Multiple submitters
- p.Tyr233Cys Multiple submitters
- c.195+214A>G Single submitter
- c.196-5del Single submitter
- c.196-5dup Single submitter
- c.196-6_196-5dup Single submitter
- c.240+111_240+112insGA Single submitter
- c.241-9G>A Single submitter
- c.599-111del Single submitter
- c.599-111dup Single submitter
- c.599-113_599-111del Single submitter
- c.793+164G>T Single submitter
- c.990+21A>G Single submitter
- p.Ser15= Single submitter
Likely benign 23
- c.196-4G>T Multiple submitters
- c.350+304G>A Multiple submitters
- p.Asn445= Multiple submitters
- p.Leu292= Multiple submitters
- p.Pro322= Multiple submitters
- p.Pro348= Multiple submitters
- p.Pro399= Multiple submitters
- p.Thr230= Multiple submitters
- p.Thr311= Multiple submitters
- c.241-58A>G Single submitter
- c.350+127C>T Single submitter
- c.56-6C>G Single submitter
- c.599-123_599-122insCT Single submitter
- p.Ala373= Single submitter
- p.Arg390= Single submitter
- p.Gly424= Single submitter
- p.Ile112Val Single submitter ⚠
- p.Ile313= Single submitter
- p.Ser20= Single submitter
- p.Ser287= Single submitter
- p.Thr52= Single submitter
- p.Val395Met Single submitter
- c.55+35G>T No assertion criteria CHRNA7-related disorder
Uncertain significance 77
- p.Asn381Asp Multiple submitters ⚠
- p.Val374Met Multiple submitters ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala373Pro Single submitter ⚠
- p.Ala434Val Single submitter ⚠
- p.Ala444Pro Single submitter ⚠
- p.Ala496Gly Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg332Lys Single submitter ⚠
- p.Arg363His Single submitter ⚠
- p.Arg409His Single submitter ⚠
- p.Arg441Cys Single submitter ⚠
- p.Arg441His Single submitter ⚠
- p.Arg446Cys Single submitter ⚠
- p.Arg446His Single submitter ⚠
- p.Arg448His Single submitter ⚠
- p.Arg469His Single submitter ⚠
- p.Asp104Glu Single submitter ⚠
- p.Asp402Gly Single submitter ⚠
- p.Asp402Tyr Single submitter ⚠
- p.Asp417Asn Single submitter ⚠
- p.Asp451Glu Single submitter ⚠
- p.Cys164Arg Single submitter ⚠
- p.Cys212Tyr Single submitter ⚠
- p.Cys241Trp Single submitter ⚠
- p.Cys357Arg Single submitter ⚠
- p.Cys397Ser Single submitter ⚠
- p.Cys3Trp Single submitter ⚠
- p.Cys407Ser Single submitter ⚠
- p.Cys412Ser Single submitter ⚠
- p.Cys449Arg Single submitter ⚠
- p.Gln425Pro Single submitter ⚠
- p.Glu428Gln Single submitter ⚠
- p.Glu459Lys Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly382Arg Single submitter ⚠
- p.Gly382Trp Single submitter ⚠
- p.Gly388Ser Single submitter ⚠
- p.Gly423Val Single submitter ⚠
- p.Gly424Arg Single submitter ⚠
- p.Gly429Val Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.Gly96Glu Single submitter ⚠
- p.His416Tyr Single submitter ⚠
- p.His85Asp Single submitter ⚠
- p.Ile107Val Single submitter ⚠
- p.Ile387Leu Single submitter ⚠
- p.Leu33Val Single submitter ⚠
- p.Leu60Pro Single submitter ⚠
- p.Leu87Ser Single submitter ⚠
- p.Lys346Arg Single submitter ⚠
- p.Lys352Arg Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met301Val Single submitter ⚠
- p.Phe102Leu Single submitter ⚠
- p.Pro376Leu Single submitter ⚠
- p.Pro431Leu Single submitter ⚠
- p.Ser20Phe Single submitter ⚠
- p.Ser289Leu Single submitter ⚠
- p.Ser307Leu Single submitter ⚠
- p.Ser380Gly Single submitter ⚠
- p.Ser453Asn Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Thr331Ile Single submitter chromosome 15q13.3 microdeletion syndrome ⚠
- p.Thr415Met Single submitter ⚠
- p.Trp9Leu Single submitter ⚠
- p.Tyr210His Single submitter ⚠
- p.Tyr232Cys Single submitter ⚠
- p.Tyr30Cys Single submitter ⚠
- p.Tyr30Ter Single submitter
- p.Tyr86Cys Single submitter ⚠
- p.Val274Ile Single submitter ⚠
- p.Val312Leu Single submitter ⚠
- p.Val333Ile Single submitter ⚠
- p.Val398Ile Single submitter ⚠
- p.Gln26Ter No assertion criteria