ClinVar for MedGen (Select 332110) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338319	NM_001384140.1(PCDH15):c.[3661C>T];[3717+1G>A]			Autosomal recessive nonsyndromic hearing loss 23	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 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 2847293	NM_001384140.1(PCDH15):c.3781dup (p.Glu1261fs)	PCDH15 (E1261fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GPathogenic/Likely pathogenic
Select item 2826665	NM_001384140.1(PCDH15):c.1630dup (p.Ile544fs)	PCDH15 (I556fs +5 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2791372	NM_001384140.1(PCDH15):c.1201C>T (p.Gln401Ter)	PCDH15 (Q379* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GPathogenic/Likely pathogenic
Select item 2766443	NM_001384140.1(PCDH15):c.4201C>T (p.Gln1401Ter)	PCDH15 (Q1401* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GPathogenic/Likely pathogenic
Select item 2677577	NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)	PCDH15 (A543fs +5 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677576	NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)	PCDH15 (Y131fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677575	NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)	PCDH15 (I1180fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677574	NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)	PCDH15 (V1036fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677573	NM_001384140.1(PCDH15):c.2388dup (p.His797fs)	PCDH15 (H726fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677571	NM_001384140.1(PCDH15):c.3373+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677570	NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)	PCDH15 (Y440* +5 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677569	NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)	PCDH15 (K102fs +2 more)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677568	NM_001384140.1(PCDH15):c.1013dup (p.His339fs)	PCDH15 (H302fs +3 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677567	NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)	PCDH15 (A1305fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677566	NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)	PCDH15 (L1259fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677564	NM_001384140.1(PCDH15):c.4367+2dup	PCDH15	Duplication (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677563	NM_001384140.1(PCDH15):c.3984-2A>C	PCDH15	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677562	NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)	PCDH15 (E1013* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2677561	NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)	PCDH15 (A269fs +3 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 2677560	NM_001384140.1(PCDH15):c.876+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677559	NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)	PCDH15 (C1338* +8 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677558	NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)	PCDH15 (E715* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677557	NM_001384140.1(PCDH15):c.2092-2A>G	PCDH15	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677556	NM_001384140.1(PCDH15):c.4367+2251G>A	PCDH15	Single nucleotide variant (intron variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677555	NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)	PCDH15 (A543fs +5 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677554	NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)	PCDH15 (Y903* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677553	NM_001384140.1(PCDH15):c.3009+1G>C	PCDH15	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677552	NM_001384140.1(PCDH15):c.1591-2A>C	PCDH15	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677551	NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)	PCDH15 (K1257* +6 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677550	NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)	PCDH15 (N559fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677549	NM_001384140.1(PCDH15):c.1917+1G>A	PCDH15	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2677548	NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)	PCDH15 (Y542* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677547	NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)	PCDH15 (P836fs +6 more)	Insertion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677546	NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)	PCDH15 (F646fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2677545	NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)	PCDH15 (I396fs +3 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677544	NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)	PCDH15 (Y6*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2677543	NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)	PCDH15 (M536fs +5 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677542	NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)	PCDH15 (T1135fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677541	NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)	PCDH15 (R1295fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677540	NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)	PCDH15 (G778fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677539	NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)	PCDH15	Deletion (nonsense)	not provided	GPathogenic
Select item 2677538	NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)	PCDH15 (Y440* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677537	NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)	PCDH15 (R540fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2677536	NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)	PCDH15 (K1096* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677535	NM_001384140.1(PCDH15):c.42del (p.Ile15fs)	PCDH15 (I15fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677534	NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)	PCDH15 (Q817* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677533	NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)	PCDH15 (F1258fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677532	NM_001384140.1(PCDH15):c.2782A>T (p.Lys928Ter)	PCDH15 (K857* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677531	NM_001384140.1(PCDH15):c.3009+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677530	NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)	PCDH15 (P873fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2677529	NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)	PCDH15 (P577fs +5 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	Gno classifications from unflagged records
Select item 2445674	NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)	PCDH15 (P371L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 2445660	NM_001384140.1(PCDH15):c.4671+1349_4671+1353dup	PCDH15 (F1621fs +1 more)	Duplication (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 23	GPathogenic
Select item 2412661	NM_001384140.1(PCDH15):c.1784+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1F	GLikely pathogenic
Select item 2136864	NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)	PCDH15 (S585fs +5 more)	Microsatellite (frameshift variant +1 more)	Usher syndrome type 1F +1 more	GPathogenic
Select item 2035767	NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)	PCDH15 (I1167fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1810395	NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)	PCDH15 (L641V +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GUncertain significance
Select item 1804021	NM_001384140.1(PCDH15):c.475-2A>G	PCDH15	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1687300	NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)	PCDH15	Microsatellite (frameshift variant)	Usher syndrome type 1F +1 more	GPathogenic
Select item 1677308	NM_001384140.1(PCDH15):c.157+3_157+6del	LOC105378311, PCDH15	Deletion (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GUncertain significance
Select item 1526060	NM_001384140.1(PCDH15):c.2843_2847dup (p.Ala950fs)	PCDH15 (A879fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GPathogenic
Select item 1524179	NM_001384140.1(PCDH15):c.3010-1G>C	PCDH15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1522139	NM_001384140.1(PCDH15):c.1306-1G>T	PCDH15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1511888	NM_001384140.1(PCDH15):c.91+1G>A	PCDH15	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GLikely pathogenic
Select item 1459364	NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)	PCDH15 (Q467* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1458978	NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)	PCDH15	Duplication (nonsense)	not provided	GPathogenic
Select item 1454964	NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter)	PCDH15 (L840* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1425442	NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs)	PCDH15 (D655fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1406208	NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)	PCDH15 (Q1391K +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +3 more	GUncertain significance
Select item 1400879	NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)	PCDH15 (Y903fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1378092	NM_001384140.1(PCDH15):c.4349_4352dup (p.Gly1452fs)	PCDH15 (G1381fs +8 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GPathogenic/Likely pathogenic
Select item 1343721	NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)	PCDH15 (S122fs +2 more)	Duplication (frameshift variant)	Usher syndrome type 1F +1 more	GPathogenic
Select item 1334341	NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)	PCDH15	Microsatellite (inframe_deletion +1 more)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 1334113	NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)	PCDH15 (D117E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 1284435	NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs)	PCDH15 (S1595fs +4 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1210450	NM_033056.4(PCDH15):c.4389del (p.Gln1464fs)	PCDH15 (Q1395fs +8 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 1209653	NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe)	PCDH15 (L1823F +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1209619	NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys)	PCDH15 (Q1207K +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1209618	NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg)	PCDH15 (P1711R +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1209617	NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala)	PCDH15 (G1012A +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1209616	NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg)	PCDH15 (K1332R +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1209592	NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile)	PCDH15 (T627I +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1209591	NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met)	PCDH15 (T264M +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +2 more	GUncertain significance
Select item 1209590	NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe)	PCDH15 (V594F +5 more)	Single nucleotide variant (intron variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1209589	NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys)	PCDH15 (R578C +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1209588	NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=)	PCDH15	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1200919	NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup	PCDH15	Duplication (3 prime UTR variant +1 more)	not provided +3 more	GLikely benign
Select item 1198448	NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)	PCDH15 (D712fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic

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