List of variants in gene PCDH15 reported as likely pathogenic for Usher syndrome type 1D

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: 101

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HGVS	dbSNP	gnomAD frequency
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)	rs751539473	0.00004
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)	rs774056663	0.00003
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs)	rs1436725375	0.00003
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs)	rs763882874	0.00003
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)	rs1057517443	0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)	rs138983888	0.00001
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)	rs2547872482	0.00001
NM_001384140.1(PCDH15):c.3806+2T>C	rs756692340	0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)	rs1384677442	0.00001
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)	rs767621707	0.00001
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer)	rs746017823	0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)	rs747516133	0.00001
NM_033056.4(PCDH15):c.4937_4940dup (p.Glu1648fs)	rs764162842	0.00001
NM_001142763.1:c.-189197_c.610-5166del
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)	rs2539929475
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)	rs2539684506
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)	rs753408470
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)	rs759187261
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)	rs2133924160
NM_001384140.1(PCDH15):c.1306-2A>G	rs2539511295
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)	rs2539510842
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)	rs2539510522
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)	rs2133817680
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)	rs2539507853
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)	rs2539477388
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)	rs2539476594
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)	rs2539476089
NM_001384140.1(PCDH15):c.16_20del (p.Tyr6fs)
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)	rs1057517251
NM_001384140.1(PCDH15):c.1784+1G>T	rs761865629
NM_001384140.1(PCDH15):c.1918-1G>A	rs2540012395
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)	rs2136049616
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)	rs1040514625
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs)	rs765906921
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)	rs2539768820
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)	rs771169423
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)	rs2539768291
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)	rs2539767058
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)	rs2539766693
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)	rs2539766517
NM_001384140.1(PCDH15):c.2220+2T>C
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)	rs2135322143
NM_001384140.1(PCDH15):c.2414dup (p.Leu805fs)
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)	rs2539201047
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)	rs201328768
NM_001384140.1(PCDH15):c.2818_2821dup (p.Lys941fs)
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)	rs2538938783
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)	rs2495140482
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)	rs2495137682
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)	rs1554940316
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)	rs2495078256
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)	rs2495074114
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)	rs2494645313
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)	rs2494644980
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)	rs2494643428
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)	rs1405076980
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)	rs2493950607
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)	rs2493949917
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)	rs2547833358
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)	rs1057517264
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)	rs768989856
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)	rs2493336185
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter)	rs2079479378
NM_001384140.1(PCDH15):c.3717+1G>A	rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T	rs748706627
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)	rs1472644881
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)	rs2493175179
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)	rs2492843561
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)	rs2492843419
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)	rs2492659568
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)	rs2492658988
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)	rs2077007633
NM_001384140.1(PCDH15):c.4367+1G>A	rs1057516613
NM_001384140.1(PCDH15):c.4671+1564del	rs2075764795
NM_001384140.1(PCDH15):c.5160_5163dup (p.Asp1722Ter)	rs2492070590
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs)	rs2134175729
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)	rs1943286459
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)	rs2549545213
NM_001384140.1(PCDH15):c.706-3_717del	rs769348776
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)	rs2541282849
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)	rs2541280442
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)	rs2541279278
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)	rs903145299
NM_001384140.1(PCDH15):c.880G>T (p.Glu294Ter)
NM_033056.4(PCDH15):c.4368-2A>T	rs989521806
NM_033056.4(PCDH15):c.4368-7_4374del
NM_033056.4(PCDH15):c.4403_4407dup (p.Asn1470fs)
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)	rs749884609
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs)	rs749884609
NM_033056.4(PCDH15):c.4411_4412del (p.Val1472fs)
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs)	rs2132512042
NM_033056.4(PCDH15):c.4467_4497dup (p.Gly1500delinsTyrTer)
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs)	rs1554820966
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)	rs1233449433
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)	rs1233449433
NM_033056.4(PCDH15):c.4566_4569dup (p.Ala1524fs)	rs2132508767
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer)	rs2132508266
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)	rs730880357
NM_033056.4(PCDH15):c.4865_4871dup (p.Leu1625fs)
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)	rs1588927571
NM_033056.4(PCDH15):c.5576_5577insTAAT (p.Lys1859fs)	rs2492348009

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