ClinVar for MedGen (Select 356393) - 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 3338041	NM_001384140.1(PCDH15):c.2127dup (p.Val710fs)	PCDH15 (V639fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GPathogenic
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 2412665	NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)	PCDH15 (M60I +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +1 more	GUncertain significance
Select item 2412664	NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)	PCDH15 (F125C +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 2412663	NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)	PCDH15 (G329R +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
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 2412660	NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)	PCDH15 (M848fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GPathogenic
Select item 2412659	NM_001384140.1(PCDH15):c.3232+1G>A	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2412658	NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)	PCDH15 (N1259fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 2412656	NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)	PCDH15 (P1412L +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 2163741	NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)	PCDH15 (S838L +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 2136863	NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)	PCDH15	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1878412	NC_000010.10:g.(?_55580859)_(55591294_55600079)del	PCDH15	Deletion	Usher syndrome type 1F	GLikely pathogenic
Select item 1723292	NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup	PCDH15	Duplication	Usher syndrome type 1F	GLikely pathogenic
Select item 1704212	NM_001384140.1(PCDH15):c.4671+1393G>C	PCDH15 (E1627D +1 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 1687300	NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)	PCDH15	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1683386	NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del	PCDH15	Deletion	Usher syndrome type 1F	GLikely pathogenic
Select item 1468970	NM_001384140.1(PCDH15):c.3122+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1459364	NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)	PCDH15 (Q467* +5 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D +3 more	GPathogenic/Likely pathogenic
Select item 1453439	NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)	PCDH15 (P515fs +5 more)	Deletion (frameshift variant)	Usher syndrome type 1F +1 more	GPathogenic
Select item 1406208	NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)	PCDH15 (Q1391K +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 1362284	NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)	PCDH15 (Q1074* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 1343722	NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala)	PCDH15 (T244A +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +1 more	GUncertain significance
Select item 1343721	NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)	PCDH15 (S122fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1343720	NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del	PCDH15	Deletion	Usher syndrome type 1F	GLikely pathogenic
Select item 1339715	NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)	PCDH15 (R1094fs +6 more)	Microsatellite (frameshift variant)	Usher syndrome type 1F	GLikely pathogenic
Select item 1334341	NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)	PCDH15	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GUncertain significance
Select item 1326934	NM_001384140.1(PCDH15):c.876+1G>C	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1F	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 1219619	NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly)	PCDH15 (R434G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not provided +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)	not provided +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)	not provided +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 1198906	NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn)	PCDH15 (D1449N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1195780	NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg)	PCDH15 (G514R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191114	NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg)	PCDH15 (K1148R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190436	NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile)	PCDH15 (V458I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180252	NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)	PCDH15 (L1839fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1177633	NM_001384140.1(PCDH15):c.705+93C>T	PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F +1 more	GBenign
Select item 1177632	NM_001384140.1(PCDH15):c.2220+47T>C	PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F +1 more	GBenign
Select item 1177592	NM_001384140.1(PCDH15):c.92-52T>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F +1 more	GBenign
Select item 1177591	NM_001384140.1(PCDH15):c.594+232A>G	PCDH15	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1155974	NM_001384140.1(PCDH15):c.1918-6C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1134818	NM_033056.4(PCDH15):c.5655C>T (p.His1885=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1123360	NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1117621	NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100733	NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1076811	NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)	PCDH15 (E1297* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 1074170	NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)	PCDH15 (Q430fs +5 more)	Deletion (frameshift variant)	Usher syndrome type 1F +2 more	GPathogenic/Likely pathogenic
Select item 1073476	NM_001384140.1(PCDH15):c.3717+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1D +2 more	GPathogenic/Likely pathogenic
Select item 1066564	NM_001384140.1(PCDH15):c.1440+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1065906	NM_001384140.1(PCDH15):c.3501+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1060871	NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser)	PCDH15 (P1356S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060177	NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala)	PCDH15 (D1195A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059676	NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser)	PCDH15 (P1710S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1055700	NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg)	PCDH15 (S1327R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054973	NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn)	PCDH15 (T50N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GUncertain significance
Select item 1052794	NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu)	PCDH15 (P1668L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052366	NM_001384140.1(PCDH15):c.4308GCC[4] (p.Pro1443del)	PCDH15 (P1372del +8 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1052068	NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile)	PCDH15 (V639I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050882	NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly)	PCDH15 (E1001G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050593	NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala)	PCDH15 (E1506A +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1046592	NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn)	PCDH15 (S857N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046251	NM_033056.4(PCDH15):c.5690C>G (p.Ala1897Gly)	PCDH15 (A1828G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1046130	NM_001384140.1(PCDH15):c.2673T>G (p.Ser891Arg)	PCDH15 (S854R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045429	NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly)	PCDH15 (E1882G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1044021	NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu)	PCDH15 (F1530L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1042107	NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln)	PCDH15 (R582Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041977	NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg)	PCDH15 (G1404R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041873	NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal)	PCDH15	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1041257	NM_033056.4(PCDH15):c.5683T>C (p.Ser1895Pro)	PCDH15 (S1872P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1039546	NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1038943	NM_001384140.1(PCDH15):c.3821A>G (p.Tyr1274Cys)	PCDH15 (Y1286C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036277	NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser)	PCDH15 (A345S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027565	NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)	PCDH15 (I1152fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D +2 more	GPathogenic
Select item 1021251	NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser)	PCDH15 (N1000S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017456	NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1016215	NM_001384140.1(PCDH15):c.1228G>T (p.Val410Leu)	PCDH15 (V373L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013987	NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys)	PCDH15 (R1012C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011092	NM_001384140.1(PCDH15):c.2868+5G>A	PCDH15 (S958N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 1010145	NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile)	PCDH15 (V725I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009022	NM_001384140.1(PCDH15):c.2751+8C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1008481	NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del)	PCDH15 (P1624del +8 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1005367	NM_001384140.1(PCDH15):c.200G>A (p.Gly67Glu)	PCDH15 (G45E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1004422	NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs)	PCDH15 (N1837fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 1003000	NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala)	PCDH15 (T471A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002902	NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu)	PCDH15 (P620L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1002834	NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg)	PCDH15 (G1015R +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1002114	NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu)	PCDH15 (P866L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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