ClinVar for Gene (Select 65217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383953	NM_033056.4(PCDH15):c.4497C>A (p.Asp1499Glu)	PCDH15 (D1430E +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3381831	NM_001384140.1(PCDH15):c.4671+1541G>T	PCDH15 (E1677* +1 more)	Single nucleotide variant (nonsense +2 more)	Hearing loss, autosomal recessive	GPathogenic
Select item 3375940	NM_001384140.1(PCDH15):c.2306G>A (p.Gly769Glu)	PCDH15 (G698E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372213	NM_033056.4(PCDH15):c.4455TTC[1] (p.Ser1487del)	PCDH15 (S1418del +8 more)	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 3368360	NM_033056.4(PCDH15):c.5281GCTCCT[3] (p.Pro1764_Leu1765insAlaPro)	PCDH15	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3367338	NM_001384140.1(PCDH15):c.262G>A (p.Asp88Asn)	PCDH15 (D66N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364601	NM_001384140.1(PCDH15):c.3463G>A (p.Glu1155Lys)	PCDH15 (E1084K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361971	NM_001384140.1(PCDH15):c.1844G>A (p.Arg615His)	PCDH15 (R578H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360273	NM_001384140.1(PCDH15):c.2722G>A (p.Gly908Ser)	PCDH15 (G837S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355864	NM_001384140.1(PCDH15):c.5041_5044dup (p.Asn1682fs)	PCDH15 (N1617fs +4 more)	Duplication (frameshift variant)	PCDH15-related disorder	GUncertain significance
Select item 3353123	NM_001384140.1(PCDH15):c.4672-10_4672-7dup	PCDH15	Duplication (intron variant)	PCDH15-related disorder	GLikely benign
Select item 3351318	NM_033056.4(PCDH15):c.4542_4567dup (p.Ser1523delinsAsnPheTyrLeuMetArgMetThrTer)	PCDH15	Duplication (nonsense +1 more)	PCDH15-related disorder	GUncertain significance
Select item 3351105	NM_001384140.1(PCDH15):c.2868+21A>G	PCDH15	Single nucleotide variant (3 prime UTR variant +1 more)	PCDH15-related disorder	GLikely benign
Select item 3348028	NM_001384140.1(PCDH15):c.4765C>T (p.Arg1589Cys)	PCDH15 (R1524C +4 more)	Single nucleotide variant (missense variant)	PCDH15-related disorder	GUncertain significance
Select item 3343391	NM_001384140.1(PCDH15):c.2650G>A (p.Ala884Thr)	PCDH15 (A813T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343267	NM_033056.4(PCDH15):c.5585T>C (p.Met1862Thr)	PCDH15 (M1793T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342566	NM_033056.4(PCDH15):c.5278C>G (p.Pro1760Ala)	PCDH15 (P1691A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342125	NM_001384140.1(PCDH15):c.3043G>A (p.Val1015Met)	PCDH15 (V1015M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340982	NM_001384140.1(PCDH15):c.460G>A (p.Ala154Thr)	PCDH15 (A132T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339157	NM_001384140.1(PCDH15):c.733C>A (p.Arg245=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338743	NM_033056.4(PCDH15):c.4792C>A (p.Gln1598Lys)	PCDH15 (Q1529K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338319	NM_001384140.1(PCDH15):c.[3661C>T];[3717+1G>A]			Autosomal recessive nonsyndromic hearing loss 23	GPathogenic
Select item 3338139	NM_001384140.1(PCDH15):c.92-24483A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338041	NM_001384140.1(PCDH15):c.2127dup (p.Val710fs)	PCDH15 (V639fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GPathogenic
Select item 3304584	NM_001384140.1(PCDH15):c.4671+1295G>A	PCDH15 (E1595K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3304583	NM_001384140.1(PCDH15):c.4672-1694T>A	PCDH15 (S1747R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3304582	NM_001384140.1(PCDH15):c.4210G>T (p.Val1404Leu)	PCDH15 (V1382L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3304581	NM_001384140.1(PCDH15):c.2380G>A (p.Gly794Arg)	PCDH15 (G757R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304579	NM_033056.4(PCDH15):c.4954C>G (p.Gln1652Glu)	PCDH15 (Q1583E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3304578	NM_001384140.1(PCDH15):c.4620G>A (p.Glu1540=)	PCDH15 (R1501K)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3304577	NM_001384140.1(PCDH15):c.4671+1574A>T	PCDH15 (M1688L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3257408	NM_001384140.1(PCDH15):c.4671+1644A>G	PCDH15 (E1711G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3252786	NM_001384140.1(PCDH15):c.3670G>T (p.Ala1224Ser)	PCDH15 (A1153S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251873	NM_001384140.1(PCDH15):c.407T>C (p.Val136Ala)	PCDH15 (V114A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250392	NM_001384140.1(PCDH15):c.4809_4827dup (p.Ser1610fs)	PCDH15 (S1545fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GPathogenic
Select item 3250391	NM_001384140.1(PCDH15):c.2091+1dup	PCDH15	Duplication (splice donor variant)	Usher syndrome type 1F	GPathogenic
Select item 3245033	NC_000010.10:g.(?_55587133)_(56138722_?)dup	PCDH15	Duplication	not provided	GLikely pathogenic
Select item 3245032	NC_000010.10:g.(?_55698555)_(55782977_?)dup	PCDH15	Duplication	not provided	GLikely pathogenic
Select item 3245031	NC_000010.10:g.(?_55826497)_(55996711_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245030	NC_000010.10:g.(?_55581618)_(56077221_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245029	NC_000010.10:g.(?_56077011)_(56106264_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245028	NC_000010.10:g.(?_56106115)_(56138712_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245027	NC_000010.10:g.(?_55782632)_(56138722_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245024	NC_000010.10:g.(?_55581618)_(55591313_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245023	NC_000010.10:g.(?_55912840)_(56287657_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245022	NC_000010.10:g.(?_55581618)_(55755545_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245021	NC_000010.10:g.(?_56077011)_(56424022_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245020	NC_000010.10:g.(?_55662983)_(55849843_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245019	NC_000010.10:g.(?_55826497)_(55892787_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245018	NC_000010.10:g.(?_55755389)_(55913073_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245017	NC_000010.10:g.(?_56138522)_(56138722_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245016	NC_000010.10:g.(?_55581618)_(55583138_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245015	NC_000010.10:g.(?_56423912)_(56424022_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245013	NC_000010.10:g.(?_55912840)_(55913073_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3240055	NM_001384140.1(PCDH15):c.3946C>T (p.Gln1316Ter)	PCDH15 (Q1245* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240054	NM_001384140.1(PCDH15):c.3179del (p.Ala1060fs)	PCDH15 (A1023fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240053	NM_001384140.1(PCDH15):c.571del (p.Ile191fs)	PCDH15 (I169fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240052	NM_001384140.1(PCDH15):c.268del (p.Val90fs)	PCDH15 (V68fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240051	NM_001384140.1(PCDH15):c.127_130del (p.Ile43fs)	LOC105378311, PCDH15 (I43fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240050	NM_001384140.1(PCDH15):c.810dup (p.Val271fs)	PCDH15 (V234fs +3 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240049	NM_001384140.1(PCDH15):c.1997+1G>C	PCDH15	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240048	NM_001384140.1(PCDH15):c.715C>T (p.Gln239Ter)	PCDH15 (Q202* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240047	NM_001384140.1(PCDH15):c.3123-1G>C	PCDH15	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3240046	NM_001384140.1(PCDH15):c.1956del (p.Ile652fs)	PCDH15 (I615fs +5 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 3239691	NM_033056.4(PCDH15):c.5576_5577insTAAT (p.Lys1859fs)	PCDH15 (K1790fs +8 more)	Insertion (frameshift variant +1 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 3239690	NM_033056.4(PCDH15):c.4937_4940dup (p.Glu1648fs)	PCDH15 (E1579fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 3239689	NM_001384140.1(PCDH15):c.5160_5163dup (p.Asp1722Ter)	PCDH15 (D1657* +4 more)	Duplication (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 3236334	NM_001384140.1(PCDH15):c.2693C>A (p.Ala898Asp)	PCDH15 (A827D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3217824	NM_001354404.2(PCDH15):c.-156+27658C>T	MTRNR2L5, PCDH15	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3209158	NM_033056.4(PCDH15):c.5622C>A (p.Asp1874Glu)	PCDH15 (D1805E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3209156	NM_001384140.1(PCDH15):c.4672-1582G>T	PCDH15 (G1785C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3209155	NM_001384140.1(PCDH15):c.4672-1669T>C	PCDH15 (S1756P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3209154	NM_001384140.1(PCDH15):c.4671+1640C>T	PCDH15 (P1717S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3209153	NM_033056.4(PCDH15):c.4949C>T (p.Thr1650Ile)	PCDH15 (T1628I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3209152	NM_033056.4(PCDH15):c.4835C>T (p.Thr1612Ile)	PCDH15 (T1592I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3209151	NM_033056.4(PCDH15):c.4715G>A (p.Arg1572Lys)	PCDH15 (R1552K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3209150	NM_001384140.1(PCDH15):c.4671+1031A>G	PCDH15 (K1507E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3209148	NM_001384140.1(PCDH15):c.3314T>G (p.Leu1105Arg)	PCDH15 (L1083R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209147	NM_001384140.1(PCDH15):c.3106A>G (p.Thr1036Ala)	PCDH15 (T1014A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209146	NM_001384140.1(PCDH15):c.2897G>A (p.Arg966Lys)	PCDH15 (R944K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209145	NM_001384140.1(PCDH15):c.2813A>G (p.Asp938Gly)	PCDH15 (D901G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209144	NM_001384140.1(PCDH15):c.211C>A (p.Pro71Thr)	PCDH15 (P71T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075826	NM_001384140.1(PCDH15):c.282T>C (p.Leu94=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3068473	NM_001384140.1(PCDH15):c.423T>G (p.Asn141Lys)	PCDH15 (N119K +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D	GUncertain significance
Select item 3068472	NM_001384140.1(PCDH15):c.4671+1564del	PCDH15 (E1685fs +1 more)	Deletion (frameshift variant +2 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 3063126	GRCh37/hg19 10q21.1(chr10:54790789-56488063)x1	PCDH15	Copy number loss	not specified	GPathogenic
Select item 3063125	GRCh37/hg19 10q21.1(chr10:54459920-56080457)x1	MBL2, PCDH15	Copy number loss	not specified	GPathogenic
Select item 3058320	NM_001384140.1(PCDH15):c.5052G>A (p.Ala1684=)	PCDH15	Single nucleotide variant (synonymous variant)	PCDH15-related disorder	GLikely benign
Select item 3049915	NM_001384140.1(PCDH15):c.594+10T>G	PCDH15	Single nucleotide variant (intron variant)	PCDH15-related disorder	GLikely benign
Select item 3030339	NM_001384140.1(PCDH15):c.4672-1601G>T	PCDH15	Single nucleotide variant (synonymous variant +2 more)	PCDH15-related disorder	GLikely benign
Select item 3026722	NM_001384140.1(PCDH15):c.280C>T (p.Leu94Phe)	PCDH15 (L72F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025705	NM_001384140.1(PCDH15):c.4260C>A (p.Pro1420=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023125	NM_001384140.1(PCDH15):c.318+16del	PCDH15	Deletion (intron variant)	not provided	GBenign
Select item 3022082	NM_001384140.1(PCDH15):c.2869-13A>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020964	NM_001384140.1(PCDH15):c.2091+14C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020859	NM_001384140.1(PCDH15):c.1441-13T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020684	NM_001384140.1(PCDH15):c.706-20T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020467	NM_001384140.1(PCDH15):c.3807-14T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019596	NM_001384140.1(PCDH15):c.3122+16C>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019483	NM_001384140.1(PCDH15):c.2752-20C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign

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