ClinVar Miner

List of variants in gene CD2AP studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
NM_012120.2(CD2AP):c.*3047G>A rs116607853
NM_012120.3(CD2AP):c.*1208C>A rs28403574
NM_012120.3(CD2AP):c.*1430dup rs145649247
NM_012120.3(CD2AP):c.*1466del rs886061541
NM_012120.3(CD2AP):c.*1606G>A rs886061542
NM_012120.3(CD2AP):c.*186A>T rs9381582
NM_012120.3(CD2AP):c.*1927T>G rs886061543
NM_012120.3(CD2AP):c.*2037C>G rs886061544
NM_012120.3(CD2AP):c.*2039T>C rs1043276
NM_012120.3(CD2AP):c.*20C>G rs149303011
NM_012120.3(CD2AP):c.*2116_*2118del rs886061545
NM_012120.3(CD2AP):c.*2118T>A rs886061546
NM_012120.3(CD2AP):c.*2228dup rs138722443
NM_012120.3(CD2AP):c.*2232C>T rs886061548
NM_012120.3(CD2AP):c.*2241A>T rs151064033
NM_012120.3(CD2AP):c.*2339T>C rs2152796
NM_012120.3(CD2AP):c.*2355G>A rs141029774
NM_012120.3(CD2AP):c.*2369G>A rs886061549
NM_012120.3(CD2AP):c.*2445C>T rs886061550
NM_012120.3(CD2AP):c.*2449C>A rs878891637
NM_012120.3(CD2AP):c.*2705A>G rs775329134
NM_012120.3(CD2AP):c.*2759G>A rs719856
NM_012120.3(CD2AP):c.*319A>C rs532632702
NM_012120.3(CD2AP):c.*367del rs797004904
NM_012120.3(CD2AP):c.*451_*452insGT rs886061523
NM_012120.3(CD2AP):c.*452C>G rs183129840
NM_012120.3(CD2AP):c.*452_*455del rs886061524
NM_012120.3(CD2AP):c.*454_*455GT[18] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[19] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[20] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[22] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[23] rs60486147
NM_012120.3(CD2AP):c.*454_*455GT[24] rs60486147
NM_012120.3(CD2AP):c.*490G>A rs886061528
NM_012120.3(CD2AP):c.*492G>A rs866946718
NM_012120.3(CD2AP):c.*492_*497del rs886061529
NM_012120.3(CD2AP):c.*494G>A rs867559785
NM_012120.3(CD2AP):c.*494_*499del rs886061530
NM_012120.3(CD2AP):c.*494_*503del rs777904165
NM_012120.3(CD2AP):c.*495_*496insGTAT rs886061525
NM_012120.3(CD2AP):c.*495_*496insGTGTAT rs886061525
NM_012120.3(CD2AP):c.*496A>G rs9463343
NM_012120.3(CD2AP):c.*496_*497AT[5] rs71538327
NM_012120.3(CD2AP):c.*496_*497AT[7] rs71538327
NM_012120.3(CD2AP):c.*496_*502delinsGTGTGTGTGTG rs886061535
NM_012120.3(CD2AP):c.*496_*504delinsGTGTG rs886061536
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*498A>G rs36077218
NM_012120.3(CD2AP):c.*500A>G rs35361796
NM_012120.3(CD2AP):c.*502A>G rs35274349
NM_012120.3(CD2AP):c.*652A>G rs886061537
NM_012120.3(CD2AP):c.*707G>A rs886061538
NM_012120.3(CD2AP):c.*828G>C rs187393492
NM_012120.3(CD2AP):c.*866C>T rs886061539
NM_012120.3(CD2AP):c.-130C>G rs886061516
NM_012120.3(CD2AP):c.-167_-165del rs533900030
NM_012120.3(CD2AP):c.-191G>A rs886061514
NM_012120.3(CD2AP):c.-192A>C rs1056434
NM_012120.3(CD2AP):c.-197C>T rs886061513
NM_012120.3(CD2AP):c.-267G>A rs532229799
NM_012120.3(CD2AP):c.-297G>C rs9369697
NM_012120.3(CD2AP):c.-324G>C rs886061512
NM_012120.3(CD2AP):c.-329C>T rs886061511
NM_012120.3(CD2AP):c.-438C>T rs191920077
NM_012120.3(CD2AP):c.-441C>A rs111766401
NM_012120.3(CD2AP):c.-441C>G rs111766401
NM_012120.3(CD2AP):c.-4dup rs886061517
NM_012120.3(CD2AP):c.-54T>A rs9349406
NM_012120.3(CD2AP):c.-55_-54insAGG rs560930115
NM_012120.3(CD2AP):c.1045+1G>A rs1393955970
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736
NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln) rs141881558
NM_012120.3(CD2AP):c.1188C>G (p.Thr396=) rs147254896
NM_012120.3(CD2AP):c.1204C>T (p.Leu402=) rs2039503
NM_012120.3(CD2AP):c.1379del (p.Asp460fs) rs1562050952
NM_012120.3(CD2AP):c.1404C>T (p.Thr468=) rs145347609
NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp)
NM_012120.3(CD2AP):c.1531-15T>A rs200506346
NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.1632+8G>T rs77917916
NM_012120.3(CD2AP):c.1633-6T>A rs886061522
NM_012120.3(CD2AP):c.1651A>G (p.Thr551Ala) rs200024855
NM_012120.3(CD2AP):c.1673C>T (p.Ala558Val) rs146444716
NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg) rs116754410
NM_012120.3(CD2AP):c.219A>G (p.Glu73=) rs7749045
NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg) rs886061518
NM_012120.3(CD2AP):c.400A>G (p.Ile134Val) rs747832531
NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn) rs886061519
NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg) rs886061520
NM_012120.3(CD2AP):c.541+14T>A rs766983546
NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser) rs142643033
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309
NM_012120.3(CD2AP):c.696C>T (p.Ser232=) rs140627775
NM_012120.3(CD2AP):c.809-11C>A rs76153148
NM_012120.3(CD2AP):c.992T>A (p.Leu331His) rs140188898

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