"Eurofins Ntd Llc (ga)"[submitter] AND "PCDH15"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497391	NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 227837	NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227003	NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 227836	NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)	PCDH15 (G1543S +4 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 501244	NM_001384140.1(PCDH15):c.4672-4_4672-2dup	PCDH15	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 284406	NM_001384140.1(PCDH15):c.4672-1564T>C	PCDH15	Single nucleotide variant (stop lost +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44037	NM_001384140.1(PCDH15):c.4672-1637G>A	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 287386	NM_001384140.1(PCDH15):c.4672-1638C>T	PCDH15 (A1766V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 227000	NM_001384140.1(PCDH15):c.4672-1640A>G	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 282913	NM_001384140.1(PCDH15):c.4671+1633T>A	PCDH15 (S1714R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 598620	NM_001384140.1(PCDH15):c.4671+1468A>G	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 500294	NM_001384140.1(PCDH15):c.4671+1392dup	PCDH15 (T1628fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 44035	NM_001384140.1(PCDH15):c.4671+1344A>C	PCDH15 (E1618A +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GBenign
Select item 226999	NM_001384140.1(PCDH15):c.4671+1109C>T	PCDH15 (P1540S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 178516	NM_001384140.1(PCDH15):c.4671+1087C>T	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 285111	NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)	PCDH15 (E1501del +6 more)	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 167424	NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 46507	NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)	PCDH15 (I1903V +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +2 more	GBenign
Select item 196873	NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)	PCDH15 (R1857fs +8 more)	Microsatellite (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 46506	NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)	PCDH15 (T1868M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46505	NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	PCDH15 (T1869del +8 more)	Microsatellite (inframe_deletion +1 more)	not provided +4 more	GBenign
Select item 46503	NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 227011	NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)	PCDH15 (P1812L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46500	NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)	PCDH15 (P1805L +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 46498	NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)	PCDH15 (P1787S +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +3 more	GBenign/Likely benign
Select item 46494	NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)	PCDH15	Duplication (inframe_insertion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 167425	NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided +4 more	GBenign/Likely benign
Select item 421481	NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided +2 more	GLikely benign
Select item 46492	NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 46488	NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)	PCDH15 (P1752del +8 more)	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 196874	NM_033056.4(PCDH15):c.5010_5015del (p.1669FS[1])	PCDH15	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 46484	NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)	PCDH15 (N1617S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 227010	NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)	PCDH15 (T1592fs +8 more)	Duplication (frameshift variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 499506	NM_033056.4(PCDH15):c.4810A>C (p.Arg1604=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 284546	NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 517422	NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 167426	NM_033056.4(PCDH15):c.4608A>G (p.Val1536=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 46482	NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1F +4 more	GBenign
Select item 167427	NM_033056.4(PCDH15):c.4459T>C (p.Ser1487Pro)	PCDH15 (S1487P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 227008	NM_033056.3(PCDH15):c.4368-13_4368-10dup	PCDH15	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 281621	NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)	PCDH15	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167428	NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)	PCDH15	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 288914	NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 286960	NM_001384140.1(PCDH15):c.4294G>C (p.Val1432Leu)	PCDH15 (V1444L +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499167	NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)	PCDH15 (R1350H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46477	NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)	PCDH15 (Q1342K +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +5 more	GBenign/Likely benign
Select item 593115	NM_001384140.1(PCDH15):c.3942C>G (p.Asp1314Glu)	PCDH15 (D1314E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96234	NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 46475	NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)	PCDH15 (R1273S +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +6 more	GConflicting classifications of pathogenicity
Select item 196046	NM_001384140.1(PCDH15):c.3717+10T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 196045	NM_001384140.1(PCDH15):c.3717+8G>C	PCDH15	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 497542	NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 167429	NM_001384140.1(PCDH15):c.3679G>A (p.Asp1227Asn)	PCDH15 (D1227N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196044	NM_001384140.1(PCDH15):c.3596C>T (p.Thr1199Ile)	PCDH15 (T1199I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46469	NM_001384140.1(PCDH15):c.3502-8C>T	PCDH15	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 497490	NM_001384140.1(PCDH15):c.3122+3A>G	PCDH15	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 501868	NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)	PCDH15	Duplication (nonsense)	not provided	GPathogenic
Select item 46461	NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 284434	NM_001384140.1(PCDH15):c.3009+7G>A	PCDH15	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 46459	NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)	PCDH15 (E997G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 286958	NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)	PCDH15 (V975I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 46458	NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)	PCDH15 (R962L +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46457	NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)	PCDH15 (R962H +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 46454	NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)	PCDH15	Single nucleotide variant (synonymous variant)	Usher syndrome type 1F +3 more	GConflicting classifications of pathogenicity
Select item 195536	NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 178628	NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)	PCDH15 (I812T +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GBenign/Likely benign
Select item 46450	NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)	PCDH15 (K808N +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 594593	NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 194898	NM_001384140.1(PCDH15):c.2161C>G (p.Leu721Val)	PCDH15 (L721V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286893	NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser)	PCDH15 (N713S +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 500292	NM_001384140.1(PCDH15):c.2120T>G (p.Val707Gly)	PCDH15 (V707G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286959	NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 300192	NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)	PCDH15 (V634I +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +5 more	GConflicting classifications of pathogenicity
Select item 285402	NM_001384140.1(PCDH15):c.1548G>A (p.Val516=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 46443	NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)	PCDH15	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 46442	NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile)	PCDH15 (V454I +5 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GBenign
Select item 594725	NM_001384140.1(PCDH15):c.1306-4086A>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 46440	NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)	PCDH15 (D435A +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 281800	NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)	PCDH15 (G407A +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 46436	NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)	PCDH15 (G380S +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +5 more	GBenign/Likely benign
Select item 46434	NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)	PCDH15 (L347F +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 96235	NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)	PCDH15 (S317T +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 501870	NM_001384140.1(PCDH15):c.706-3_717del	PCDH15	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 46511	NM_001384140.1(PCDH15):c.706-8C>T	PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F +4 more	GBenign
Select item 179459	NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys)	PCDH15 (R227C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 290793	NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)	PCDH15 (N174S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46467	NM_001384140.1(PCDH15):c.343G>A (p.Val115Met)	PCDH15 (V115M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 46463	NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498478	NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 46444	NM_001384140.1(PCDH15):c.157+3A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F +3 more	GBenign

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Items: 90