Sugi Variant

Sugi Variant/CDKN1C

CDKN1C — 1089 ClinVar variants

All ClinVar germline CDKN1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 523 flagged for review →

88 Pathogenic · 6 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 34 Conflicting · 2 Benign · 13 Benign/Likely benign · 353 Likely benign · 577 Uncertain significance

Full CDKN1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 523

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 8

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 227

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 227

Predictors split 287

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 287

All CDKN1C variants

Pathogenic 88

  • p.Asp263Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln219Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Gln221Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Gln230Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Glu119Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Glu214Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Pro137fs Multiple submitters IMAGe syndrome
  • p.Ser233Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala134fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ala192fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ala202fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ala213fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ala240fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ala244fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ala99fs Single submitter Beckwith-Wiedemann syndrome
  • p.Arg268Leu Single submitter Beckwith-Wiedemann syndrome
  • p.Arg270_Ser271insTer Single submitter Beckwith-Wiedemann syndrome
  • p.Arg270fs Single submitter Beckwith-Wiedemann syndrome
  • p.Arg88fs Single submitter Beckwith-Wiedemann syndrome
  • p.Asn249fs Single submitter Beckwith-Wiedemann syndrome
  • p.Asn43fs Single submitter Beckwith-Wiedemann syndrome
  • p.Asp116fs Single submitter Beckwith-Wiedemann syndrome
  • p.Asp279fs Single submitter Beckwith-Wiedemann syndrome
  • p.Asp53fs Single submitter Beckwith-Wiedemann syndrome
  • p.Cys19fs Single submitter Beckwith-Wiedemann syndrome
  • p.Gln215Ter Single submitter
  • p.Gln219fs Single submitter
  • p.Gln221fs Single submitter Beckwith-Wiedemann syndrome
  • p.Gln224Ter Single submitter IMAGe syndrome
  • p.Gln55fs Single submitter Beckwith-Wiedemann syndrome
  • p.Gln55Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Gln67fs Single submitter Beckwith-Wiedemann syndrome
  • p.Gln67Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Glu109Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Glu119fs Single submitter Beckwith-Wiedemann syndrome
  • p.Glu211fs Single submitter Beckwith-Wiedemann syndrome
  • p.Glu225Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Glu274Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Glu29Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Glu34Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Glu45fs Single submitter Beckwith-Wiedemann syndrome
  • p.Glu45Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Glu70fs Single submitter Beckwith-Wiedemann syndrome
  • p.Glu82Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Gly250fs Single submitter Beckwith-Wiedemann syndrome
  • p.Gly278_Asp279delinsLeuArgLeuAsn Single submitter Beckwith-Wiedemann syndrome
  • p.Gly64fs Single submitter Beckwith-Wiedemann syndrome
  • p.Leu118fs Single submitter Beckwith-Wiedemann syndrome
  • p.Leu31Pro Single submitter Beckwith-Wiedemann syndrome
  • p.Leu4fs Single submitter Beckwith-Wiedemann syndrome
  • p.Lys267Glu Single submitter IMAGe syndrome
  • p.Lys267Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Phe23Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Phe264fs Single submitter Beckwith-Wiedemann syndrome
  • p.Phe54fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro133fs Single submitter
  • p.Pro141fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro171fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro181fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro183fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro193fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro205fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro25fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro59fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro95fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ser212fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ser21fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ser236Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Ser32fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ser75Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Thr243fs Single submitter Beckwith-Wiedemann syndrome
  • p.Thr69fs Single submitter Beckwith-Wiedemann syndrome
  • p.Trp68Ter Single submitter Beckwith-Wiedemann syndrome
  • p.Tyr52Ter Single submitter CDKN1C-related disorder
  • p.Val12fs Single submitter Beckwith-Wiedemann syndrome
  • p.Val140fs Single submitter Beckwith-Wiedemann syndrome
  • p.Val14fs Single submitter Beckwith-Wiedemann syndrome
  • c.*5+2T>C No assertion criteria Beckwith-Wiedemann syndrome
  • p.Ala101fs No assertion criteria Beckwith-Wiedemann syndrome
  • p.Ala200fs No assertion criteria Beckwith-Wiedemann syndrome
  • p.Arg268Pro No assertion criteria IMAGe syndrome ⚠
  • p.Gln36Ter No assertion criteria Beckwith-Wiedemann syndrome
  • p.Glu123fs No assertion criteria Beckwith-Wiedemann syndrome
  • p.Leu93fs No assertion criteria Beckwith-Wiedemann syndrome
  • p.Phe265fs No assertion criteria Beckwith-Wiedemann syndrome
  • p.Phe265Val No assertion criteria IMAGe syndrome
  • p.Pro201fs No assertion criteria Beckwith-Wiedemann syndrome
  • p.Pro203fs No assertion criteria Beckwith-Wiedemann syndrome

Pathogenic/Likely pathogenic 6

  • p.Cys19Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Pro59Leu Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ser271Ter Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ser73fs Multiple submitters Beckwith-Wiedemann syndrome
  • p.Val130fs Multiple submitters Beckwith-Wiedemann syndrome
  • p.Pro139fs No assertion criteria Beckwith-Wiedemann syndrome

Likely pathogenic 16

  • p.Arg268Ser Multiple submitters Monogenic short statue
  • c.787+2T>A Single submitter IMAGe syndrome
  • c.788-1G>A Single submitter Inborn genetic diseases
  • p.Ala112fs Single submitter Beckwith-Wiedemann syndrome
  • p.Ala159fs Single submitter Beckwith-Wiedemann syndrome
  • p.Arg268fs Single submitter Beckwith-Wiedemann syndrome
  • p.Arg7fs Single submitter Beckwith-Wiedemann syndrome
  • p.Asp263fs Single submitter Beckwith-Wiedemann syndrome
  • p.Gln56Ter Single submitter IMAGe syndrome
  • p.Gly258fs Single submitter Beckwith-Wiedemann syndrome
  • p.Phe23Ser Single submitter Beckwith-Wiedemann syndrome
  • p.Phe265Ser Single submitter IMAGe syndrome
  • p.Pro197fs Single submitter
  • p.Pro273fs Single submitter CDKN1C-related disorder
  • p.Pro291fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro97fs Single submitter Beckwith-Wiedemann syndrome

Conflicting classifications of pathogenicity 34

Benign 2

Benign/Likely benign 13

  • c.-11+60G>A Multiple submitters Beckwith-Wiedemann syndrome
  • p.152APVA[2] Multiple submitters Inborn genetic diseases
  • p.186_187AP[12] Multiple submitters Beckwith-Wiedemann syndrome
  • p.186_187AP[7] Multiple submitters Beckwith-Wiedemann syndrome
  • p.186_187AP[8] Multiple submitters Inborn genetic diseases
  • p.186_187AP[9] Multiple submitters Beckwith-Wiedemann syndrome
  • p.186AP[9] Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala174= Multiple submitters Inborn genetic diseases
  • p.Arg33= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Glu225= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Gly234= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Pro107Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser212= Multiple submitters Beckwith-Wiedemann syndrome

Likely benign 353

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

  • c.-10-9C>T Multiple submitters Beckwith-Wiedemann syndrome
  • c.-1G>T Multiple submitters Beckwith-Wiedemann syndrome
  • p.168_169AP[5] Multiple submitters Beckwith-Wiedemann syndrome
  • p.186_187AP[15] Multiple submitters Beckwith-Wiedemann syndrome
  • p.186_187AP[5] Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala101= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala146= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala165Pro Multiple submitters Inborn genetic diseases
  • p.Ala170= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala178= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala188= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ala94= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Gln215Glu Multiple submitters Inborn genetic diseases
  • p.Gly292= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Leu118= Multiple submitters IMAGe syndrome
  • p.Leu22= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Pro169= Multiple submitters IMAGe syndrome
  • p.Pro189= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Pro195= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Pro197= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ser17= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ser257= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ser295= Multiple submitters Beckwith-Wiedemann syndrome
  • p.Ser75= Multiple submitters IMAGe syndrome
  • p.Val154_Ala155del Multiple submitters Beckwith-Wiedemann syndrome
  • p.Val71= Multiple submitters Beckwith-Wiedemann syndrome
  • c.787+10G>A Single submitter Beckwith-Wiedemann syndrome
  • c.787+10G>C Single submitter Beckwith-Wiedemann syndrome
  • c.787+11C>A Single submitter Beckwith-Wiedemann syndrome
  • c.787+13C>G Single submitter Beckwith-Wiedemann syndrome
  • c.787+13C>T Single submitter Beckwith-Wiedemann syndrome
  • c.787+13del Single submitter Beckwith-Wiedemann syndrome
  • c.787+142C>T Single submitter
  • c.787+14G>T Single submitter Beckwith-Wiedemann syndrome
  • c.787+15del Single submitter Beckwith-Wiedemann syndrome
  • c.787+16_787+25del Single submitter Beckwith-Wiedemann syndrome
  • c.787+16C>T Single submitter Beckwith-Wiedemann syndrome
  • c.787+19C>T Single submitter Beckwith-Wiedemann syndrome
  • c.787+20G>A Single submitter Beckwith-Wiedemann syndrome
  • c.787+7C>A Single submitter Beckwith-Wiedemann syndrome
  • c.787+7C>G Single submitter Beckwith-Wiedemann syndrome
  • c.787+7C>T Single submitter Beckwith-Wiedemann syndrome
  • c.787+8C>G Single submitter Beckwith-Wiedemann syndrome
  • c.787+9C>G Single submitter Beckwith-Wiedemann syndrome
  • c.787+9C>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-11G>A Single submitter Beckwith-Wiedemann syndrome
  • c.788-13C>G Single submitter Beckwith-Wiedemann syndrome
  • c.788-14G>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-15C>G Single submitter Beckwith-Wiedemann syndrome
  • c.788-17C>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-18G>A Single submitter Beckwith-Wiedemann syndrome
  • c.788-18G>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-20G>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-4G>A Single submitter Beckwith-Wiedemann syndrome
  • c.788-4G>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-5C>G Single submitter Beckwith-Wiedemann syndrome
  • c.788-5C>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-6C>T Single submitter Beckwith-Wiedemann syndrome
  • c.788-8G>T Single submitter Beckwith-Wiedemann syndrome
  • c.-10-12G>A Single submitter Beckwith-Wiedemann syndrome
  • c.-10-12G>C Single submitter Beckwith-Wiedemann syndrome
  • c.-10-15C>T Single submitter Beckwith-Wiedemann syndrome
  • c.-10-18C>T Single submitter Beckwith-Wiedemann syndrome
  • c.-10-6C>T Single submitter Beckwith-Wiedemann syndrome
  • c.-10C>T Single submitter Beckwith-Wiedemann syndrome
  • c.-4C>G Single submitter Beckwith-Wiedemann syndrome
  • c.-4C>T Single submitter Beckwith-Wiedemann syndrome
  • c.-7A>C Single submitter Beckwith-Wiedemann syndrome
  • c.*111C>T Single submitter
  • c.*5+19_*5+20insA Single submitter Beckwith-Wiedemann syndrome
  • c.*5+23_*5+24dup Single submitter
  • p.144AP[2] Single submitter Beckwith-Wiedemann syndrome
  • p.144AP[3] Single submitter Beckwith-Wiedemann syndrome
  • p.144AP[4] Single submitter Beckwith-Wiedemann syndrome
  • p.144AP[6] Single submitter Beckwith-Wiedemann syndrome
  • p.144AP[8] Single submitter Beckwith-Wiedemann syndrome
  • p.152APVA[1] Single submitter Beckwith-Wiedemann syndrome
  • p.152APVA[4] Single submitter Beckwith-Wiedemann syndrome
  • p.163AV[1] Single submitter Beckwith-Wiedemann syndrome
  • p.168_169AP[10] Single submitter Beckwith-Wiedemann syndrome
  • p.168_169AP[11] Single submitter Beckwith-Wiedemann syndrome
  • p.168_169AP[12] Single submitter Beckwith-Wiedemann syndrome
  • p.168_169AP[6] Single submitter Beckwith-Wiedemann syndrome
  • p.168_169AP[9] Single submitter Beckwith-Wiedemann syndrome
  • p.168AP[10] Single submitter Beckwith-Wiedemann syndrome
  • p.168AP[11] Single submitter Beckwith-Wiedemann syndrome
  • p.168AP[3] Single submitter Beckwith-Wiedemann syndrome
  • p.168AP[4] Single submitter Beckwith-Wiedemann syndrome
  • p.168AP[5] Single submitter Beckwith-Wiedemann syndrome
  • p.168AP[6] Single submitter Beckwith-Wiedemann syndrome
  • p.186_187AP[14] Single submitter Beckwith-Wiedemann syndrome
  • p.186_191AP[3]VAAPAPAPAPAPAP[1] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[11] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[12] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[13] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[15] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[16] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[17] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[19] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[2] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[4] Single submitter Beckwith-Wiedemann syndrome
  • p.186AP[7] Single submitter Beckwith-Wiedemann syndrome
  • p.Ala111= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala112= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala121= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala132= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala134= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala148= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala148_Pro157del Single submitter Beckwith-Wiedemann syndrome
  • p.Ala150= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala150_Pro157del Single submitter Beckwith-Wiedemann syndrome
  • p.Ala150_Pro161del Single submitter Beckwith-Wiedemann syndrome
  • p.Ala152= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala156_Ala165del Single submitter Beckwith-Wiedemann syndrome
  • p.Ala159= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala160= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala160_Ala165del Single submitter Beckwith-Wiedemann syndrome
  • p.Ala160_Pro161del Single submitter Beckwith-Wiedemann syndrome
  • p.Ala163= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala163_Val164insAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Ala165= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala165_Leu167delinsLeuAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Ala165Leu Single submitter Beckwith-Wiedemann syndrome
  • p.Ala168= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala168_Pro169insArgAla Single submitter Beckwith-Wiedemann syndrome
  • p.Ala172= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala176= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala18= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala180= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala180_Pro205del Single submitter Beckwith-Wiedemann syndrome
  • p.Ala182= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala185= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala185_Ala186insValAlaValLeuAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Ala186= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala188_Pro193delinsValAlaValAlaValLeu Single submitter Beckwith-Wiedemann syndrome
  • p.Ala190= Single submitter
  • p.Ala192= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala194= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala196= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala198= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala200= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala200_Pro201insGlnAla Single submitter Beckwith-Wiedemann syndrome
  • p.Ala202= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala207= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala208= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala213= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala213Thr Single submitter Beckwith-Wiedemann syndrome
  • p.Ala217= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala228= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala240= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala245= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala246= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala248= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala251= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala252= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala266= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala272= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala282= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala289= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala290= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala37= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala40= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala44= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala6= Single submitter Beckwith-Wiedemann syndrome
  • p.Ala99= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg20= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg222= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg238= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg268= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg270= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg301= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg65= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg81= Single submitter Beckwith-Wiedemann syndrome
  • p.Arg90= Single submitter Beckwith-Wiedemann syndrome
  • p.Asn218= Single submitter Beckwith-Wiedemann syndrome
  • p.Asp116= Single submitter Beckwith-Wiedemann syndrome
  • p.Asp206= Single submitter Beckwith-Wiedemann syndrome
  • p.Asp46= Single submitter Beckwith-Wiedemann syndrome
  • p.Asp53= Single submitter Beckwith-Wiedemann syndrome
  • p.Asp57= Single submitter Beckwith-Wiedemann syndrome
  • p.Asp72= Single submitter Beckwith-Wiedemann syndrome
  • p.Cys19= Single submitter Beckwith-Wiedemann syndrome
  • p.Gln210= Single submitter Beckwith-Wiedemann syndrome
  • p.Gln36= Single submitter Beckwith-Wiedemann syndrome
  • p.Gln85= Single submitter Beckwith-Wiedemann syndrome
  • p.Glu2= Single submitter Beckwith-Wiedemann syndrome
  • p.Glu214= Single submitter Beckwith-Wiedemann syndrome
  • p.Glu274= Single submitter Beckwith-Wiedemann syndrome
  • p.Glu30= Single submitter Beckwith-Wiedemann syndrome
  • p.Glu45= Single submitter Beckwith-Wiedemann syndrome
  • p.Glu82= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly117= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly216= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly220= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly24= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly250= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly294= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly62= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly8= Single submitter Beckwith-Wiedemann syndrome
  • p.Gly87= Single submitter Beckwith-Wiedemann syndrome
  • p.His28= Single submitter Beckwith-Wiedemann syndrome
  • p.Ile253= Single submitter Beckwith-Wiedemann syndrome
  • p.Ile261= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu108= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu125= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu13= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu143= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu167= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu167_Ala170del Single submitter Beckwith-Wiedemann syndrome
  • p.Leu167_Ala186del Single submitter Beckwith-Wiedemann syndrome
  • p.Leu227= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu231= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu256= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu260= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu304= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu35= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu39= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu42= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu60= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu91= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu92= Single submitter Beckwith-Wiedemann syndrome
  • p.Leu93= Single submitter Beckwith-Wiedemann syndrome
  • p.Lys255= Single submitter Beckwith-Wiedemann syndrome
  • p.Lys269= Single submitter Beckwith-Wiedemann syndrome
  • p.Lys275= Single submitter Beckwith-Wiedemann syndrome
  • p.Phe23= Single submitter Beckwith-Wiedemann syndrome
  • p.Phe265= Single submitter Beckwith-Wiedemann syndrome
  • p.Phe54= Single submitter Beckwith-Wiedemann syndrome
  • p.Phe79= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro106= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro107= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro110= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro122= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro129= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro131= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro133= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro137= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro138= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro139= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro141= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro141_Val184del Single submitter Beckwith-Wiedemann syndrome
  • p.Pro145= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro147= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro149= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro153= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro157= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro161= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro161_Val164del Single submitter Beckwith-Wiedemann syndrome
  • p.Pro173= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro175= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro175fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro177_Ala178insValAlaAlaProValAlaAlaProValAlaValAlaValLeuAlaProAlaProAlaProAlaProAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro177fs Single submitter Beckwith-Wiedemann syndrome
  • p.Pro179= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro179_Ala180insValAla Single submitter Beckwith-Wiedemann syndrome
  • p.Pro181= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro181_Ala182insSerPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro183= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro183_Val184insAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro183_Val184insAlaProAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro183_Val184insAlaProAlaProAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro187= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro191= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro191_Ala192insAspPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro193= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro199= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro201= Single submitter
  • p.Pro203= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro205= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro205_Asp206insAlaProValAlaAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaPro Single submitter Beckwith-Wiedemann syndrome
  • p.Pro239= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro25= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro259= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro281= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro283= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro287= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro291= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro300= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro59= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro77= Single submitter Beckwith-Wiedemann syndrome
  • p.Pro97= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser105= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser114= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser135= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser21= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser233= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser236= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser247= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser271= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser276= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser277= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser288= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser32= Single submitter Beckwith-Wiedemann syndrome
  • p.Ser73= Single submitter Beckwith-Wiedemann syndrome
  • p.Ter306= Single submitter Beckwith-Wiedemann syndrome
  • p.Thr136= Single submitter Beckwith-Wiedemann syndrome
  • p.Thr243= Single submitter Beckwith-Wiedemann syndrome
  • p.Thr299= Single submitter Beckwith-Wiedemann syndrome
  • p.Thr69= Single submitter Beckwith-Wiedemann syndrome

Uncertain significance 577

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