ClinVar Miner

List of variants in gene PCDH19 reported as likely pathogenic

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Total variants: 54
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HGVS dbSNP
NC_000023.10:g.(?_99551255)_(99551893_?)del
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) rs796052839
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.128C>T (p.Ala43Val) rs1064795511
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1351C>T (p.Pro451Ser) rs796052816
NM_001184880.2(PCDH19):c.1372T>C (p.Tyr458His) rs1064794762
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1478_1485del (p.Val493fs) rs1131692002
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter) rs1064797376
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly) rs796052822
NM_001184880.2(PCDH19):c.21_39del (p.Val8fs) rs1555985864
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2501dup (p.Asn834fs) rs1555984437
NM_001184880.2(PCDH19):c.2616+1G>A
NM_001184880.2(PCDH19):c.2676-1_2683del rs1064794781
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.295T>A (p.Cys99Ser) rs1064795237
NM_001184880.2(PCDH19):c.298_300ATC[1] (p.Ile101del) rs796052825
NM_001184880.2(PCDH19):c.311dup (p.Val105fs) rs1555985745
NM_001184880.2(PCDH19):c.361G>A (p.Asp121Asn) rs796052795
NM_001184880.2(PCDH19):c.361G>C (p.Asp121His) rs796052795
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.370G>T (p.Asp124Tyr) rs796052797
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
NM_001184880.2(PCDH19):c.424G>C (p.Ala142Pro) rs796052798
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.490dup (p.Gln164fs) rs1569315842
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro)
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.634G>C (p.Asp212His) rs796052806
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.2(PCDH19):c.701A>G (p.Asn234Ser) rs1555985475
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs) rs1064797377
NM_001184880.2(PCDH19):c.878dup (p.His294fs) rs1131691362
NM_001184880.2(PCDH19):c.927del (p.His310fs) rs1555985389
NM_001184880.2(PCDH19):c.92A>T (p.Glu31Val) rs1064795834

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