Sugi Variant

Sugi Variant/PTCH2

PTCH2 — 1110 ClinVar variants

All ClinVar germline PTCH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 549 flagged for review →

1 Pathogenic · 22 Conflicting · 43 Benign · 19 Benign/Likely benign · 369 Likely benign · 656 Uncertain significance

Full PTCH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 549

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 17

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

Predictors lean, ClinVar uncertain 371

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 371

Predictors split 161

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 161

All PTCH2 variants

Pathogenic 1

  • c.3357+5C>T No assertion criteria Basal cell carcinoma, somatic

Conflicting classifications of pathogenicity 22

Benign 43

Benign/Likely benign 19

  • c.1083+3C>T Multiple submitters nevoid basal cell carcinoma syndrome
  • c.525+19A>C Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala229= Multiple submitters basal cell nevus syndrome 1
  • p.Ala475= Multiple submitters basal cell nevus syndrome 1
  • p.Ala532= Multiple submitters basal cell carcinoma, susceptibility to, 1
  • p.Ala750Thr Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg358His Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Asp709= Multiple submitters basal cell nevus syndrome 1
  • p.Gly587Glu Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His622Asn Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His622Tyr Multiple submitters basal cell nevus syndrome 1
  • p.Ile1121Met Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu30= Multiple submitters basal cell carcinoma, susceptibility to, 1
  • p.Leu64= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Phe671= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro853= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr498Met Multiple submitters basal cell nevus syndrome 1
  • p.Val360= Multiple submitters basal cell nevus syndrome 1
  • p.Val502= Multiple submitters nevoid basal cell carcinoma syndrome

Likely benign 369

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1216-10C>G Multiple submitters nevoid basal cell carcinoma syndrome
  • c.2059-4G>A Multiple submitters nevoid basal cell carcinoma syndrome
  • c.3357+15G>C Multiple submitters nevoid basal cell carcinoma syndrome
  • c.814-4C>A Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala1051= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala1091= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala303= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala428= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala436= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg397= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg665Cys Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Asp470= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Cys418= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gln1137= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Glu955= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly492= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His54= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His887= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His943= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro1018= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro1061= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro1116= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro129= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro460= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro627= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ser424= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ser728= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr1063= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr893= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Tyr702= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Val145= Multiple submitters
  • c.1083+13A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1083+16G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1084-14C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1215+10G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1215+18C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1216-15C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1216-5C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1216-5C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1216-7C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1371+13T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1371+19del Single submitter nevoid basal cell carcinoma syndrome
  • c.1372-15C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1372-18G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1372-19C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1372-9C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1464+10T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1464+10T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1464+14C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1464+16C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1464+19G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1464+8_1464+17del Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+10C>T Single submitter
  • c.1590+11T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+11T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+12C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+17G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+18G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+19G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+34G>A Single submitter
  • c.1590+8C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-10C>G Single submitter
  • c.1591-10C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-12T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-15C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-5C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-5C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-6C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-8T>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1591-9G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1709+10G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1709+12G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1709+12G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1709+19C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1710-15C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1710-16T>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2058+11G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2059-5C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2371+18G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2371+19G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2372-14C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2372-15C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.2514+12G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.2514+14T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.2514+20G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.266-239A>G Single submitter
  • c.266-45C>T Single submitter
  • c.2695+10G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2695+10G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2695+11G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2695+11G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.2695+11G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2695+20C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2695+3G>A Single submitter
  • c.2695+8T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.2695+9del Single submitter nevoid basal cell carcinoma syndrome
  • c.2696-13C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2696-20C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2696-6C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2696-9C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2976+10T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.2976+14G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2977-5C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+17C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+18G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+20G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+7A>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+8C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+9G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+9G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.3115-14C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3115-15A>C Single submitter
  • c.3115-212G>A Single submitter
  • c.3115-5C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3257+13C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3257+14G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3257+15G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-11C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-16C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-17C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-19C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-7C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-9T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.3357+14C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3357+15G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3357+16G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3357+8C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3358-11_3358-9dup Single submitter nevoid basal cell carcinoma syndrome
  • c.3358-140C>T Single submitter
  • c.3358-14G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3358-151C>G Single submitter
  • c.3358-4A>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3425+728T>C Single submitter
  • c.455+13G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.455+16C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.455+16C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.455+8T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.456-18T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.456-37T>G Single submitter
  • c.456-9C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.525+11T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.526-16G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.526-16G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.526-17C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.526-5G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.526-8C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.617+11C>T Single submitter
  • c.618-6C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.72+14G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.72+8G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.73-10T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.73-19C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.813+10A>C Single submitter nevoid basal cell carcinoma syndrome
  • c.813+17del Single submitter nevoid basal cell carcinoma syndrome
  • c.813+264T>G Single submitter
  • c.814-12G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.814-18C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.814-20C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.814-289T>C Single submitter
  • c.936-10C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.936-12C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.936-17T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.936-18C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.936-4C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.-13C>G Single submitter
  • c.-222G>A Single submitter
  • p.Ala1090= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala119Ser Single submitter
  • p.Ala21= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala389= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala396= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala407= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala434= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala436Val Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala445= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala477= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala523= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala531= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala65= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala68= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala768= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala872= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala921= Single submitter
  • p.Ala937= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala967= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala980= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala997= Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg1155= Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg120= Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg497= Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg732= Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg754= Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg762= Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg898His Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg915= Single submitter nevoid basal cell carcinoma syndrome
  • p.Asn125= Single submitter nevoid basal cell carcinoma syndrome
  • p.Asn370= Single submitter nevoid basal cell carcinoma syndrome
  • p.Asn509= Single submitter nevoid basal cell carcinoma syndrome
  • p.Asn985= Single submitter nevoid basal cell carcinoma syndrome
  • p.Asp1082= Single submitter nevoid basal cell carcinoma syndrome
  • p.Asp586= Single submitter nevoid basal cell carcinoma syndrome
  • p.Asp891= Single submitter nevoid basal cell carcinoma syndrome
  • p.Cys183= Single submitter nevoid basal cell carcinoma syndrome
  • p.Cys49= Single submitter nevoid basal cell carcinoma syndrome
  • p.Cys572= Single submitter nevoid basal cell carcinoma syndrome
  • p.Cys934= Single submitter nevoid basal cell carcinoma syndrome
  • p.Cys974= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln1151= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln245His Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln347= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln356= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln95= Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu1056= Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu124= Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu174= Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu493Lys Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu650= Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu738= Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu854= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly1029= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly1115= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly1139= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly1203= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly201= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly207= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly233= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly281= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly42= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly465= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly467= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly587= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly639= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly941= Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly959= Single submitter nevoid basal cell carcinoma syndrome
  • p.His1035= Single submitter nevoid basal cell carcinoma syndrome
  • p.His259= Single submitter nevoid basal cell carcinoma syndrome
  • p.His267= Single submitter nevoid basal cell carcinoma syndrome
  • p.His277= Single submitter nevoid basal cell carcinoma syndrome
  • p.His277Gln Single submitter
  • p.His595= Single submitter nevoid basal cell carcinoma syndrome
  • p.His605= Single submitter nevoid basal cell carcinoma syndrome
  • p.His622= Single submitter nevoid basal cell carcinoma syndrome
  • p.His724= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile1113= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile185= Single submitter
  • p.Ile466= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile521= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile688= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile77= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile792= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile899= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ile927= Single submitter
  • p.Leu1014= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu104= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu1049= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu1070= Single submitter
  • p.Leu1097= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu1098= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu1104= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu1111= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu1149= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu115= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu136= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu186= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu189= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu279= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu297= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu311= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu322= Single submitter
  • p.Leu387= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu406= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu44= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu447= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu474= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu504= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu518= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu529= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu63= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu679= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu690= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu699= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu7= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu736= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu824= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu85= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu860= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu869= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu965= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu971= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu977= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu984= Single submitter nevoid basal cell carcinoma syndrome
  • p.Leu991= Single submitter nevoid basal cell carcinoma syndrome
  • p.Lys722= Single submitter nevoid basal cell carcinoma syndrome
  • p.Phe1083= Single submitter nevoid basal cell carcinoma syndrome
  • p.Phe332= Single submitter nevoid basal cell carcinoma syndrome
  • p.Phe836= Single submitter nevoid basal cell carcinoma syndrome
  • p.Pro11= Single submitter nevoid basal cell carcinoma syndrome
  • p.Pro1168= Single submitter nevoid basal cell carcinoma syndrome
  • p.Pro16= Single submitter nevoid basal cell carcinoma syndrome
  • p.Pro17= Single submitter nevoid basal cell carcinoma syndrome

Uncertain significance 656

Showing the top 300 by review status; the full set is in the sitemap.

  • c.2976+2T>C Multiple submitters nevoid basal cell carcinoma syndrome
  • c.526-2A>G Multiple submitters basal cell nevus syndrome 1
  • c.617+4A>T Multiple submitters medulloblastoma
  • c.618-6C>A Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala1052Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1090Val Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Ala203Val Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala21Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala371Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala371Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala419Thr Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Ala512Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala531Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala574Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala672Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala677Pro Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala704Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala755Pro Multiple submitters PTCH2-related disorder ⚠
  • p.Ala755Thr Multiple submitters basal cell nevus syndrome 1 ⚠
  • p.Ala820Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala830Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala876Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ala935Thr Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Arg175Trp Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Arg208His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg235Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg235Trp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg250Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg326Cys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg326His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg333Gln Multiple submitters basal cell nevus syndrome 1 ⚠
  • p.Arg333Trp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg37Cys Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Arg397fs Multiple submitters basal cell carcinoma, susceptibility to, 1
  • p.Arg415Gln Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Arg497His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg525Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg555Trp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg556Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg557Cys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg557His Multiple submitters medulloblastoma ⚠
  • p.Arg561His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg673Cys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg673His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg719Gln Multiple submitters basal cell nevus syndrome 1 ⚠
  • p.Arg754Cys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg754His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg804Cys Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Arg811His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg811Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg898Cys Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Arg92Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg92Trp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg931Trp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Arg961Gln Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Arg962Cys Multiple submitters PTCH2-related disorder ⚠
  • p.Asn274Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Asn508fs Multiple submitters medulloblastoma
  • p.Asn985Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Asp1064Asn Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Asp586Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Asp888Asn Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Cys252Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gln1137Pro Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Gln24Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gln361Ter Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gln364Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gln793His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gln84Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Glu1056Gln Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Glu278Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Glu651Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Glu738Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Glu83Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Glu906Gln Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Gly1197fs Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly1197Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gly1203Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gly301Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gly423Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gly448Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gly62Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gly647Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Gly938Ser Multiple submitters medulloblastoma ⚠
  • p.Gly948Ser Multiple submitters PTCH2-related disorder ⚠
  • p.His1057Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.His267Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.His331Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.His595Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ile1028Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ile116Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ile177Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ile25Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ile77Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ile992Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Leu1070Phe Multiple submitters medulloblastoma ⚠
  • p.Leu149His Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Leu156Trp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Leu189fs Multiple submitters medulloblastoma
  • p.Leu189Ile Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Leu189Val Multiple submitters medulloblastoma ⚠
  • p.Leu443fs Multiple submitters medulloblastoma
  • p.Leu514Phe Multiple submitters basal cell nevus syndrome 1 ⚠
  • p.Leu696Phe Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Leu7Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Leu82Phe Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Leu855Phe Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Leu85Phe Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Lys101Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Lys1125Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Met1007Thr Multiple submitters PTCH2-related disorder ⚠
  • p.Met291Ile Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Met515Val Multiple submitters basal cell nevus syndrome 1 ⚠
  • p.Phe726Leu Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Pro1061Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro1116Leu Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro1117Leu Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Pro1167Leu Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Pro188Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro188His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro209Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro255Ala Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro618Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro627Arg Multiple submitters basal cell nevus syndrome 1 ⚠
  • p.Pro638Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro773Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro882Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Pro900Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ser1189Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ser1195Phe Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ser1195Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ser263Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ser344fs Multiple submitters medulloblastoma
  • p.Ser391Phe Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Ser660Tyr Multiple submitters medulloblastoma ⚠
  • p.Ser683Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Thr1096Met Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Thr615Asn Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Thr780Ile Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Thr827Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Thr840Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Thr893Met Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Trp1183Ter Multiple submitters basal cell nevus syndrome 1
  • p.Trp416Ter Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Tyr336Cys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Tyr408Cys Multiple submitters medulloblastoma ⚠
  • p.Tyr674fs Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Val1019Met Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Val1094Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Val1105Met Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Val184Met Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Val360Leu Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Val425Met Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Val576Leu Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Val576Met Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Val689Met Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Val862Met Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • p.Val93Met Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Val993Ala Multiple submitters nevoid basal cell carcinoma syndrome ⚠
  • c.1083+4G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1083+5G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1215+4G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1216-1G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1371+4C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1371+5G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1372-1G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1372-2A>T Single submitter medulloblastoma
  • c.1465-105_1545del Single submitter nevoid basal cell carcinoma syndrome
  • c.1465-1G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1465-3C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1590+1G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1685_1709+14dup Single submitter nevoid basal cell carcinoma syndrome
  • c.2059-1G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2371+9C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2514+1G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2514+3T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.265+12_265+13inv Single submitter nevoid basal cell carcinoma syndrome
  • c.265+1G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.2976+1G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.2977-2A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+3G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3114+6C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.3257+1G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3257+3del Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-5_3258-3delinsTAGTACCTAGG Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-6_3258-5insTAGTA Single submitter nevoid basal cell carcinoma syndrome
  • c.3258-7C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3357+1G>A Single submitter
  • c.3358-16T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.3358-1G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.3358-3C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.456-1G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.525+3A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.525+6T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.525+6T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.617+1G>A Single submitter medulloblastoma
  • c.72+1G>A Single submitter
  • c.72+5G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.813+4G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.935+6G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.936-1G>A Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala1051Pro Single submitter ⚠
  • p.Ala1054Asp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1054Ser Single submitter ⚠
  • p.Ala1091Glu Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1091Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1091Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1135fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala1145Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1163Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1177Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala119Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala1201Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala131fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala18Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala18Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala196fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala203Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala22Glu Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala241Glu Single submitter ⚠
  • p.Ala246= Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala264Asp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala272Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala276Thr Single submitter ⚠
  • p.Ala315Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala371Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala389Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala434Val Single submitter ⚠
  • p.Ala463Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala475Glu Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala511Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala541Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala541Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala664Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala669Thr Single submitter ⚠
  • p.Ala687Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala68Asp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala68Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala712Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala725Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala729Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala729Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala740Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala768Thr Single submitter ⚠
  • p.Ala768Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala794Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala794Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala818Thr Single submitter ⚠
  • p.Ala820Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala926Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala930Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala937Val Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Ala997Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg1047Gln Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg1047Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg1050Gln Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg1050Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg1086Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg120Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg120His Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg120Leu Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg175Leu Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg250Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg312Lys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg357Gln Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg357Trp Single submitter ⚠
  • p.Arg358Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg37His Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg397Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg397Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg3Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg415Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg490Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg497Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg525Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg555Gln Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg556Gly Single submitter ⚠
  • p.Arg556Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg561Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg643Gln Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg643Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg665Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg673Leu Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg732Thr Single submitter basal cell nevus syndrome 1 ⚠
  • p.Arg74Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg74His Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg754Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg779Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg779Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg779His Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg779Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg786Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg786His Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg804His Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg807Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg811Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg842Gly Single submitter basal cell nevus syndrome 1 ⚠
  • p.Arg847Thr Single submitter ⚠
  • p.Arg898Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
  • p.Arg915Cys Single submitter nevoid basal cell carcinoma syndrome ⚠