C1836027[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029009	NM_033056.4(PCDH15):c.5339C>A (p.Pro1780His)	PCDH15 (P1740H +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GUncertain significance
Select item 179400	NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)	PCDH15 (S1540* +8 more)	Duplication (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 432938	NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)	PCDH15 (E1468fs +8 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 558259	NM_001384140.1(PCDH15):c.4367+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1F	GLikely pathogenic
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 558480	NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)	PCDH15 (T1372fs +8 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GLikely pathogenic
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 370419	NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)	PCDH15 (C1409* +8 more)	Single nucleotide variant (nonsense)	not provided +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 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 556004	NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)	PCDH15 (T1373I +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 551706	NM_001384140.1(PCDH15):c.3807-2A>G	PCDH15	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1F	GLikely pathogenic
Select item 557497	NM_001384140.1(PCDH15):c.3806+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1F +1 more	GLikely pathogenic
Select item 558275	NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)	PCDH15 (I1227fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1F	GLikely pathogenic
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 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 553548	NM_001384140.1(PCDH15):c.3717+2dup	PCDH15	Duplication (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1069096	NM_001384140.1(PCDH15):c.3717+1G>C	PCDH15	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 189083	NM_001384140.1(PCDH15):c.3717+1G>A	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 650919	NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)	PCDH15 (Q1228* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2035767	NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)	PCDH15 (I1167fs +6 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 943097	NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)	PCDH15 (M1171fs +6 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370113	NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)	PCDH15 (F1160fs +6 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 934800	NM_001384140.1(PCDH15):c.3373+1G>A	PCDH15	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 228389	NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)	PCDH15 (R1120* +6 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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 46464	NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	PCDH15 (R1106* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +5 more	GPathogenic/Likely 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 46462	NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)	PCDH15 (P1044L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 943995	NM_001384140.1(PCDH15):c.3122+1G>A	PCDH15	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 501868	NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)	PCDH15	Duplication (nonsense)	not provided	GPathogenic
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 1524179	NM_001384140.1(PCDH15):c.3010-1G>C	PCDH15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 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 224747	NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	PCDH15 (R991* +6 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1400879	NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)	PCDH15 (Y903fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 370828	NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)	PCDH15 (G905fs +6 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 935162	NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)	PCDH15 (Y936* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 370242	NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	PCDH15 (R929* +6 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 553206	NM_001384140.1(PCDH15):c.2751+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1F +3 more	GConflicting classifications of pathogenicity
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 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 802573	NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)	PCDH15	Deletion (nonsense)	Usher syndrome type 1F +1 more	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 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 370469	NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)	PCDH15 (E830fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GLikely pathogenic
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 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 1198448	NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)	PCDH15 (D712fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 872165	NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)	PCDH15 (E694* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2677546	NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)	PCDH15 (F646fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2677539	NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)	PCDH15	Deletion (nonsense)	not provided	GPathogenic
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 1458978	NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)	PCDH15	Duplication (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 46449	NM_001384140.1(PCDH15):c.1998-2A>G	PCDH15	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1F +2 more	GPathogenic/Likely 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 379720	NM_001384140.1(PCDH15):c.1997+1G>A	PCDH15	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1071287	NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)	PCDH15 (R622fs +5 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
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 177724	NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	PCDH15 (R643* +5 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +4 more	GPathogenic
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 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 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 371427	NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)	PCDH15 (N622fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 2412661	NM_001384140.1(PCDH15):c.1784+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1F	GLikely pathogenic
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 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 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 817007	NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)	PCDH15 (Y591* +5 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 371411	NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)	PCDH15 (Y579* +5 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
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 2677537	NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)	PCDH15 (R540fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 650649	NM_001384140.1(PCDH15):c.1475dup (p.Val493fs)	PCDH15 (V500fs +5 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GPathogenic/Likely pathogenic
Select item 1069748	NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)	PCDH15 (Q451* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 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 1522139	NM_001384140.1(PCDH15):c.1306-1G>T	PCDH15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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