List of variants in gene PCDH15 reported as likely pathogenic by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 77

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.2751+2T>C	rs754543131	0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)	rs779165268	0.00002
NM_001384140.1(PCDH15):c.1997+1G>A	rs763797356	0.00001
NM_001384140.1(PCDH15):c.3806+2T>C	rs756692340	0.00001
NM_001384140.1(PCDH15):c.3807-2A>G	rs1328440878	0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)	rs767966376	0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)	rs1384677442	0.00001
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
NM_001384140.1(PCDH15):c.1306-1G>T	rs1299990309
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)	rs1193650682
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)	rs2133801342
NM_001384140.1(PCDH15):c.158-2A>T	rs1304228309
NM_001384140.1(PCDH15):c.1591-2A>C
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)	rs1264383341
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
NM_001384140.1(PCDH15):c.1917+1G>A
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)	rs2136049616
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)	rs765906921
NM_001384140.1(PCDH15):c.2092-2A>G
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)	rs2094144044
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)	rs2135322143
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)	rs757027638
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)	rs2091805733
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)	rs2134302083
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
NM_001384140.1(PCDH15):c.3009+1G>C
NM_001384140.1(PCDH15):c.3009+1G>T
NM_001384140.1(PCDH15):c.3010-1G>C	rs2134277047
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)	rs1554882652
NM_001384140.1(PCDH15):c.3122+1G>A	rs982893820
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
NM_001384140.1(PCDH15):c.3373+2T>C
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)	rs746865307
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)	rs1057517264
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
NM_001384140.1(PCDH15):c.366del (p.Asn122fs)	rs1589072933
NM_001384140.1(PCDH15):c.3717+1G>C	rs748706627
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
NM_001384140.1(PCDH15):c.3984-2A>C
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	rs137853003
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)	rs1057516472
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
NM_001384140.1(PCDH15):c.4367+2251G>A
NM_001384140.1(PCDH15):c.4367+2T>C	rs1554822703
NM_001384140.1(PCDH15):c.4367+2dup
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)	rs1943288780
NM_001384140.1(PCDH15):c.876+2T>C
NM_001384140.1(PCDH15):c.91+1G>A	rs1565887701
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)

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