CD2AP — 438 ClinVar variants

All ClinVar germline CD2AP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 11 Conflicting · 54 Benign · 24 Benign/Likely benign · 90 Likely benign · 241 Uncertain significance

Full CD2AP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 182

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 7

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

CD2AP p.Ala185Ser Conflicting Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Arg612Gln Conflicting Single submitter
Inborn genetic diseases
CD2AP p.Ile268Phe Conflicting Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Leu331His Conflicting Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Lys301Met Conflicting Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Pro552Ser Conflicting Single submitter
Inborn genetic diseases
CD2AP p.Val466Ile Conflicting Single submitter
focal segmental glomerulosclerosis 3, susceptibility to

Predictors lean, ClinVar uncertain 152

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 152

CD2AP p.Ala383Glu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ala398Thr Uncertain significance Multiple submitters
CD2AP p.Ala571Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Arg228Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Arg74Met Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asn427Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Asn43Lys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asn506Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Asn559Asp Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asp473Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Asp9Gly Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Glu287Asp Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Glu312Lys Uncertain significance Multiple submitters
CD2AP p.Glu367Lys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Glu516Lys Uncertain significance Multiple submitters
CD2AP p.Gly406Arg Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Gly605Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.His174Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Ile104Asn Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ile134Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ile134Val Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Ile433Val Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Ile591Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ile596Val Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Leu184Ser Uncertain significance Multiple submitters
CD2AP-related disorder
CD2AP p.Leu586Phe Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Lys102Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Lys239Glu Uncertain significance Multiple submitters
CD2AP-related disorder
CD2AP p.Lys333Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Pro244Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Pro410Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Pro453Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Pro532Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ser193Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Ser234Arg Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ser514Gly Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Thr61Met Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Tyr280Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Val257Ala Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Val430Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Val459Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ala201Val Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Ala306Thr Uncertain significance Single submitter
CD2AP p.Ala347Pro Uncertain significance Single submitter
CD2AP p.Ala357Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ala357Val Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Ala481Gly Uncertain significance Single submitter
CD2AP p.Ala491Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis
CD2AP p.Ala528Val Uncertain significance Single submitter
CD2AP p.Arg212Gln Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Arg212Leu Uncertain significance Single submitter
CD2AP p.Arg275Lys Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Arg74Thr Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Asn160Thr Uncertain significance Single submitter
CD2AP p.Asn506Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asp125Asn Uncertain significance Single submitter
CD2AP p.Asp370His Uncertain significance Single submitter
CD2AP p.Asp3Glu Uncertain significance Single submitter
CD2AP-related disorder
CD2AP p.Asp479Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asp479Gly Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asp538Tyr Uncertain significance Single submitter
CD2AP p.Asp576Gly Uncertain significance Single submitter
CD2AP p.Asp577Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asp65Gly Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Asp66Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Gln177Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Gln451His Uncertain significance Single submitter
CD2AP p.Glu126Lys Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Glu143Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis
CD2AP p.Glu143Gly Uncertain significance Single submitter
focal segmental glomerulosclerosis
CD2AP p.Glu166Gly Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Glu305Lys Uncertain significance Single submitter
CD2AP p.Glu568Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Glu592Lys Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Gly195Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Gly23Ala Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Gly282Ser Uncertain significance Single submitter
CD2AP p.Gly307Asp Uncertain significance Single submitter
inherited focal segmental glomerulosclerosis
CD2AP p.Gly40Arg Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Gly47Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.His509Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.His509Tyr Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.His513Asp Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.His98Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.His98Tyr Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Ile191Met Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Ile423Thr Uncertain significance Single submitter
CD2AP p.Ile480Val Uncertain significance Single submitter
CD2AP p.Ile590Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ile95Val Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Leu288Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Leu445Pro Uncertain significance Single submitter
CD2AP p.Leu519Phe Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Leu521Phe Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Leu594Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Lys109Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Lys163Glu Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Lys243Asn Uncertain significance Single submitter
CD2AP p.Lys253Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Lys333Glu Uncertain significance Single submitter
CD2AP p.Lys351Arg Uncertain significance Single submitter
CD2AP p.Lys369Asn Uncertain significance Single submitter
CD2AP p.Lys55Met Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Lys606Glu Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Lys610Asn Uncertain significance Single submitter
CD2AP p.Lys633Ile Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Met48Val Uncertain significance Single submitter
CD2AP p.Phe157Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Pro187Leu Uncertain significance Single submitter
prostate cancer
CD2AP p.Pro192Leu Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Pro192Thr Uncertain significance Single submitter
CD2AP p.Pro241Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Pro336Ser Uncertain significance Single submitter
CD2AP p.Pro341Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Pro350Ser Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Pro395Ala Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Pro410Ala Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Ser147Gly Uncertain significance Single submitter
CD2AP-related disorder
CD2AP p.Ser234Thr Uncertain significance Single submitter
CD2AP p.Ser449Pro Uncertain significance Single submitter
CD2AP p.Ser527Asn Uncertain significance Single submitter
CD2AP p.Ser546Cys Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Ser546Pro Uncertain significance Single submitter
CD2AP p.Ser582Phe Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ser623Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Thr108Ile Uncertain significance Single submitter
CD2AP p.Thr173Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Thr188Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Thr231Ala Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Thr236Ala Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Thr303Ile Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Thr393Ala Uncertain significance Single submitter
CD2AP p.Thr396Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Thr472Ala Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Thr539Ile Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Thr561Ala Uncertain significance Single submitter
CD2AP p.Thr87Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Trp308Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Tyr10Cys Uncertain significance Single submitter
CD2AP p.Tyr119Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Tyr4Cys Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Tyr8Cys Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Val183Ile Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Val225Leu Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Val225Met Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Val2Gly Uncertain significance Single submitter
CD2AP p.Val319Ile Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Val326Ile Uncertain significance Single submitter
CD2AP p.Val387Ile Uncertain significance Single submitter
CD2AP p.Val459Ile Uncertain significance Single submitter

Predictors split 23

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

CD2AP p.Arg111His Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Arg84Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Ile134Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Met496Ile Uncertain significance Multiple submitters
inherited focal segmental glomerulosclerosis
CD2AP p.Val54Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CD2AP p.Arg111Cys Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Arg228Trp Conflicting Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Arg27Ser Uncertain significance Single submitter
CD2AP p.Arg72Trp Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Asn151Ser Conflicting Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Asn152Ile Uncertain significance Single submitter
CD2AP p.Asp286Glu Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Glu281Gly Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Glu607Gly Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Glu618Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Gly93Arg Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Ile299Thr Uncertain significance Single submitter
Inborn genetic diseases
CD2AP p.Leu486Val Uncertain significance Single submitter
CD2AP p.Met48Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Phe220Leu Uncertain significance Single submitter
CD2AP p.Pro385Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to
CD2AP p.Ser300Gly Uncertain significance Single submitter
CD2AP p.Val78Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 3, susceptibility to

All CD2AP variants

Pathogenic 6

p.Asn581fs Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.730-1_730delinsCT Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Glu164_Leu165insTer Single submitter
p.Ser463fs Single submitter
p.Thr101fs Single submitter
c.1045+1G>A No assertion criteria focal segmental glomerulosclerosis 3, susceptibility to

Pathogenic/Likely pathogenic 1

p.Ser256fs Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to

Likely pathogenic 11

c.1108+1G>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.729+1G>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Ala398fs Single submitter CD2AP-related disorder
p.Arg111fs Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Arg412Ter Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Arg84Ter Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Gln100Ter Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Gln255fs Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Pro241fs Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Thr289fs Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Tyr10Ter Single submitter focal segmental glomerulosclerosis 3, susceptibility to

Conflicting classifications of pathogenicity 11

c.1046-5C>T Single submitter Inborn genetic diseases
p.Ala185Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Arg228Trp Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Arg612Gln Single submitter Inborn genetic diseases ⚠
p.Arg612Ter Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Asn151Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ile268Phe Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Leu331His Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Lys301Met Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Pro552Ser Single submitter Inborn genetic diseases ⚠
p.Val466Ile Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠

Benign 54

c.1045+36C>A Multiple submitters
c.1108+82T>C Multiple submitters
c.1275-20G>A Multiple submitters
c.1814+24G>A Multiple submitters
c.1879-66T>C Multiple submitters
c.421-25G>A Multiple submitters
c.809-11C>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.904-38_904-37dup Multiple submitters
c.904-39_904-37dup Multiple submitters
c.-192A>C Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.-441C>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.-54T>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Leu402= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1008+16del Single submitter
c.1009-277T>C Single submitter
c.1045+309G>T Single submitter
c.1046-110A>G Single submitter
c.1046-153A>T Single submitter
c.1046-244C>T Single submitter
c.1417+259C>G Single submitter
c.1418-178del Single submitter
c.1418-222C>T Single submitter
c.1530+219T>A Single submitter
c.1531-266G>A Single submitter
c.1531-331T>C Single submitter
c.1531-33A>G Single submitter
c.1814+225_1814+227del Single submitter
c.1814+225_1814+227dup Single submitter
c.1814+227del Single submitter
c.1814+227dup Single submitter
c.1814+231A>G Single submitter
c.320-113C>T Single submitter
c.4+262T>G Single submitter
c.420+148C>T Single submitter
c.542-303T>G Single submitter
c.903+219C>T Single submitter
c.904-37dup Single submitter
c.-267G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.-297G>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*1017T>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*1208C>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*160A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*186A>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*1918A>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2039T>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*20C>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2241A>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2339T>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2355G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2759G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*500A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*502A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*828G>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Val326= Single submitter

Benign/Likely benign 24

c.1275-11dup Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1417+19C>T Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1530+12T>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1530+20G>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1531-15T>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1632+8G>T Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.165+13A>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.4+16G>A Multiple submitters
c.541+19T>A Multiple submitters
c.-441C>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Ala345= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Ala558Val Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Arg212= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Asn581Lys Multiple submitters kidney disorder
p.Glu73= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.His14= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Lys633Arg Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Pro338= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Pro394Gln Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Pro99= Multiple submitters focal segmental glomerulosclerosis
p.Ser232= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Thr149= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Thr264= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Thr374Ala Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to

Likely benign 90

c.1008+274T>C Multiple submitters
c.1274+36T>G Multiple submitters
c.1632+89G>T Multiple submitters
c.1633-27T>C Multiple submitters
c.1633-8G>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1814+89G>A Multiple submitters
c.319+79T>C Multiple submitters
c.5-20G>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.730-202A>G Multiple submitters
c.730-7A>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.His604= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Lys55Thr Multiple submitters
p.Pro389= Multiple submitters
p.Pro566Ser Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Ser443= Multiple submitters
p.Thr396= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Val547= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1008+15T>C Single submitter
c.1008+16T>C Single submitter
c.1009-300T>G Single submitter
c.1045+14A>G Single submitter
c.1045+285A>T Single submitter
c.1045+7A>G Single submitter
c.1046-4A>G Single submitter
c.1046-7C>G Single submitter
c.1046-7C>T Single submitter
c.1274+10A>G Single submitter
c.1275-18G>A Single submitter
c.1275-61C>T Single submitter
c.1418-14T>C Single submitter
c.1418-322dup Single submitter
c.1530+20G>C Single submitter
c.1531-9A>C Single submitter
c.1632+111A>G Single submitter
c.1632+12T>G Single submitter
c.1633-10A>T Single submitter
c.1633-8G>T Single submitter
c.1633-9C>T Single submitter
c.165+17A>G Single submitter
c.1814+228_1814+229del Single submitter
c.1815-267A>C Single submitter
c.1878+272G>A Single submitter
c.1878+77G>A Single submitter
c.1879-16A>C Single submitter
c.319+156A>G Single submitter
c.319+20C>A Single submitter
c.4+7_4+8del Single submitter
c.4+9C>G Single submitter
c.421-5T>C Single submitter
c.541+149G>A Single submitter
c.541+173del Single submitter
c.729+10A>T Single submitter
c.729+7A>G Single submitter
c.730-4C>T Single submitter
c.730-66A>G Single submitter
c.809-180_809-177del Single submitter
c.903+161G>A Single submitter
c.903+20C>T Single submitter
c.904-16C>G Single submitter
c.904-203T>C Single submitter
c.904-40_904-37dup Single submitter
p.Ala279= Single submitter
p.Ala92= Single submitter
p.Arg21Gln Single submitter
p.Asp577= Single submitter
p.Glu235= Single submitter
p.Glu429dup Single submitter
p.Gly498= Single submitter
p.Gly503= Single submitter
p.Gly93= Single submitter
p.Ile104Val Single submitter Inborn genetic diseases
p.Ile259Val Single submitter Inborn genetic diseases
p.Lys411= Single submitter
p.Lys58= Single submitter
p.Phe320= Single submitter
p.Pro121= Single submitter
p.Pro158= Single submitter
p.Pro385= Single submitter
p.Pro418= Single submitter
p.Pro421= Single submitter
p.Pro522= Single submitter
p.Pro532= Single submitter
p.Ser582= Single submitter
p.Thr200= Single submitter
p.Thr468= Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Thr551Ala Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Thr87= Single submitter
p.Tyr119= Single submitter
p.Val78= Single submitter
p.Ser469= No assertion criteria CD2AP-related disorder

Uncertain significance 241

c.1274+3A>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.1633-6T>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.-130C>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.-166A>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.*319A>C Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.*452C>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.*494G>A Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.*496A>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
c.*498A>G Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Ala383Glu Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ala398Thr Multiple submitters ⚠
p.Ala571Thr Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Arg111His Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Arg228Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg504Cys Multiple submitters Inborn genetic diseases
p.Arg74Met Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Arg84Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn427Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn43Lys Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Asn506Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn559Asp Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Asp473Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp9Gly Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Glu287Asp Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Glu312Lys Multiple submitters ⚠
p.Glu367Lys Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Glu516Lys Multiple submitters ⚠
p.Glu525del Multiple submitters inherited focal segmental glomerulosclerosis
p.Gly406Arg Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Gly605Arg Multiple submitters Inborn genetic diseases ⚠
p.His174Pro Multiple submitters Inborn genetic diseases ⚠
p.Ile104Asn Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ile134Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile134Thr Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ile134Val Multiple submitters Inborn genetic diseases ⚠
p.Ile433Val Multiple submitters Inborn genetic diseases ⚠
p.Ile591Thr Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ile596Val Multiple submitters Inborn genetic diseases ⚠
p.Leu184Ser Multiple submitters CD2AP-related disorder ⚠
p.Leu194= Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to
p.Leu586Phe Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Lys102Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys239Glu Multiple submitters CD2AP-related disorder ⚠
p.Lys333Thr Multiple submitters Inborn genetic diseases ⚠
p.Met496Ile Multiple submitters inherited focal segmental glomerulosclerosis ⚠
p.Pro244Ser Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Pro410Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro453Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro532Ser Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ser193Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser234Arg Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ser514Gly Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Thr61Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr280Cys Multiple submitters Inborn genetic diseases ⚠
p.Val257Ala Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Val430Phe Multiple submitters Inborn genetic diseases ⚠
p.Val459Leu Multiple submitters focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Val54Ile Multiple submitters Inborn genetic diseases ⚠
c.1109-3T>A Single submitter
c.1632+10A>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.1632+18C>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.1814+4A>G Single submitter
c.1879-3del Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.541+14T>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.542-11T>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.808+3A>G Single submitter
c.-191G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.-324G>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.-329C>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.-438C>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.-69C>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.-7C>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*1606G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*166A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*1927T>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*1G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2037C>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2117C>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2118T>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2232C>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2309T>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2321C>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2369G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2394A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2445C>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2449C>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2470C>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2548G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*2705A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*297T>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*326T>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*452_*455del Single submitter
c.*454GT[19] Single submitter
c.*454GT[20] Single submitter
c.*454GT[23] Single submitter
c.*492G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*494_*503del Single submitter
c.*496AT[5] Single submitter
c.*496AT[7] Single submitter
c.*504A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*549T>C Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*652A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*706A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*707G>A Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*762A>G Single submitter focal segmental glomerulosclerosis 3, susceptibility to
c.*866C>T Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Ala201Val Single submitter Inborn genetic diseases ⚠
p.Ala306Thr Single submitter ⚠
p.Ala347Pro Single submitter ⚠
p.Ala357Thr Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ala357Val Single submitter Inborn genetic diseases ⚠
p.Ala481Gly Single submitter ⚠
p.Ala491Thr Single submitter focal segmental glomerulosclerosis ⚠
p.Ala528Val Single submitter ⚠
p.Arg111Cys Single submitter Inborn genetic diseases ⚠
p.Arg21= Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Arg212Gln Single submitter Inborn genetic diseases ⚠
p.Arg212Leu Single submitter ⚠
p.Arg275Lys Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Arg27Ser Single submitter ⚠
p.Arg72Trp Single submitter Inborn genetic diseases ⚠
p.Arg74Thr Single submitter Inborn genetic diseases ⚠
p.Asn152Ile Single submitter ⚠
p.Asn160Thr Single submitter ⚠
p.Asn506Asp Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Asp125Asn Single submitter ⚠
p.Asp286Glu Single submitter Inborn genetic diseases ⚠
p.Asp370His Single submitter ⚠
p.Asp3Glu Single submitter CD2AP-related disorder ⚠
p.Asp479Asn Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Asp479Gly Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Asp538Tyr Single submitter ⚠
p.Asp576Gly Single submitter ⚠
p.Asp577Asn Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Asp65Gly Single submitter Inborn genetic diseases ⚠
p.Asp66Asn Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Gln177Arg Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Gln451His Single submitter ⚠
p.Glu126Lys Single submitter Inborn genetic diseases ⚠
p.Glu143Asp Single submitter focal segmental glomerulosclerosis ⚠
p.Glu143Gly Single submitter focal segmental glomerulosclerosis ⚠
p.Glu166Gly Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Glu281Gly Single submitter Inborn genetic diseases ⚠
p.Glu305Lys Single submitter ⚠
p.Glu568Asp Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Glu592Lys Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Glu607Gly Single submitter Inborn genetic diseases ⚠
p.Glu60fs Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Glu618Asp Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Gly195Glu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Gly23Ala Single submitter Inborn genetic diseases ⚠
p.Gly282= Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Gly282Ser Single submitter ⚠
p.Gly307Asp Single submitter inherited focal segmental glomerulosclerosis ⚠
p.Gly40Arg Single submitter Inborn genetic diseases ⚠
p.Gly47Arg Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Gly93Arg Single submitter Inborn genetic diseases ⚠
p.His509Leu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.His509Tyr Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.His513Asp Single submitter Inborn genetic diseases ⚠
p.His98Leu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.His98Tyr Single submitter Inborn genetic diseases ⚠
p.Ile134Asp Single submitter
p.Ile191Met Single submitter Inborn genetic diseases ⚠
p.Ile299Thr Single submitter Inborn genetic diseases ⚠
p.Ile423Thr Single submitter ⚠
p.Ile480Val Single submitter ⚠
p.Ile590Thr Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ile95Val Single submitter Inborn genetic diseases ⚠
p.Leu288Arg Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Leu445Pro Single submitter ⚠
p.Leu486Val Single submitter ⚠
p.Leu519Phe Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Leu521Phe Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Leu594Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Lys105Leu Single submitter CD2AP-related disorder
p.Lys109Arg Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Lys163Glu Single submitter Inborn genetic diseases ⚠
p.Lys243Asn Single submitter ⚠
p.Lys253Glu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Lys333Glu Single submitter ⚠
p.Lys351Arg Single submitter ⚠
p.Lys369Asn Single submitter ⚠
p.Lys55Met Single submitter Inborn genetic diseases ⚠
p.Lys606Glu Single submitter Inborn genetic diseases ⚠
p.Lys610Asn Single submitter ⚠
p.Lys633Ile Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Met48Thr Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Met48Val Single submitter ⚠
p.Phe157Leu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Phe220Leu Single submitter ⚠
p.Pro187Leu Single submitter prostate cancer ⚠
p.Pro192Leu Single submitter Inborn genetic diseases ⚠
p.Pro192Thr Single submitter ⚠
p.Pro241Thr Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Pro336Ser Single submitter ⚠
p.Pro341Leu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Pro350Ser Single submitter Inborn genetic diseases ⚠
p.Pro385Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Pro388= Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Pro395Ala Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Pro410Ala Single submitter Inborn genetic diseases ⚠
p.Ser147Gly Single submitter CD2AP-related disorder ⚠
p.Ser234Thr Single submitter ⚠
p.Ser300Gly Single submitter ⚠
p.Ser405del Single submitter
p.Ser449Pro Single submitter ⚠
p.Ser527Asn Single submitter ⚠
p.Ser546Cys Single submitter Inborn genetic diseases ⚠
p.Ser546Pro Single submitter ⚠
p.Ser582Phe Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ser623Asn Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Thr108Ile Single submitter ⚠
p.Thr173Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Thr188Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Thr231Ala Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Thr236Ala Single submitter Inborn genetic diseases ⚠
p.Thr303Ile Single submitter Inborn genetic diseases ⚠
p.Thr393Ala Single submitter ⚠
p.Thr396Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Thr472Ala Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Thr539Ile Single submitter Inborn genetic diseases ⚠
p.Thr561Ala Single submitter ⚠
p.Thr87Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Trp308Ser Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Tyr10Cys Single submitter ⚠
p.Tyr119Asn Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Tyr4Cys Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Tyr8Cys Single submitter Inborn genetic diseases ⚠
p.Val183Ile Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Val225= Single submitter focal segmental glomerulosclerosis 3, susceptibility to
p.Val225Leu Single submitter Inborn genetic diseases ⚠
p.Val225Met Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Val2Gly Single submitter ⚠
p.Val319Ile Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Val326Ile Single submitter ⚠
p.Val387Ile Single submitter ⚠
p.Val459Ile Single submitter ⚠
p.Val466Leu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Val78Leu Single submitter focal segmental glomerulosclerosis 3, susceptibility to ⚠
p.Ser224Pro No assertion criteria focal segmental glomerulosclerosis 3, susceptibility to ⚠