Related gene-specific medical variations for Gene (Select 65217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063126	GRCh37/hg19 10q21.1(chr10:54790789-56488063)x1	PCDH15	Copy number loss	not specified	GPathogenic
Select item 2971988	NM_001384140.1(PCDH15):c.117A>T (p.Pro39=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913193	NM_001384140.1(PCDH15):c.92-18G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816468	NM_001384140.1(PCDH15):c.157+20T>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791931	NM_001384140.1(PCDH15):c.123T>C (p.Ala41=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777020	NM_001384140.1(PCDH15):c.126C>T (p.Thr42=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743226	NM_001384140.1(PCDH15):c.120A>G (p.Pro40=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2730733	NM_001384140.1(PCDH15):c.92A>T (p.Asp31Val)	LOC105378311, PCDH15 (D31V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2707043	NM_001384140.1(PCDH15):c.110del (p.Gly37fs)	LOC105378311, PCDH15 (G37fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2704505	NM_001384140.1(PCDH15):c.92-19G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689668	NM_001384140.1(PCDH15):c.2278A>G (p.Asn760Asp)	PCDH15 (N689D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2677577	NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)	PCDH15 (A543fs +5 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 2677576	NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)	PCDH15 (Y131fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely 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	GLikely pathogenic
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	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	GLikely 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	GLikely pathogenic
Select item 2677570	NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)	PCDH15 (Y440* +5 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
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	GLikely pathogenic
Select item 2677568	NM_001384140.1(PCDH15):c.1013dup (p.His339fs)	PCDH15 (H302fs +3 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely 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	GLikely pathogenic
Select item 2677566	NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)	PCDH15 (L1259fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 2677564	NM_001384140.1(PCDH15):c.4367+2dup	PCDH15	Duplication (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 2677563	NM_001384140.1(PCDH15):c.3984-2A>C	PCDH15	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
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	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	GLikely pathogenic
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	GLikely pathogenic
Select item 2677557	NM_001384140.1(PCDH15):c.2092-2A>G	PCDH15	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
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	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	GLikely pathogenic
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	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	GLikely 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	GLikely pathogenic
Select item 2677551	NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)	PCDH15 (K1257* +6 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 23	GLikely 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	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	GPathogenic
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	GLikely pathogenic
Select item 2677545	NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)	PCDH15 (I396fs +3 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely 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	GLikely pathogenic
Select item 2677542	NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)	PCDH15 (T1135fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely 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	GLikely pathogenic
Select item 2677540	NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)	PCDH15 (G778fs +6 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
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	GLikely pathogenic
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	GLikely pathogenic
Select item 2677535	NM_001384140.1(PCDH15):c.42del (p.Ile15fs)	PCDH15 (I15fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
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	GLikely pathogenic
Select item 2677533	NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)	PCDH15 (F1258fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely 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	GPathogenic
Select item 2677531	NM_001384140.1(PCDH15):c.3009+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
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	GLikely pathogenic
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	GLikely pathogenic
Select item 2503840	NM_001384140.1(PCDH15):c.157+41373T>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2503085	NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)	PCDH15 (C562* +5 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503076	NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter)	PCDH15 (S1885* +8 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503075	NM_001384140.1(PCDH15):c.705+5G>A	PCDH15	Single nucleotide variant (intron variant)	Usher syndrome	GLikely pathogenic
Select item 2503069	NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)	PCDH15 (E1822K +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 2434601	NM_001384140.1(PCDH15):c.3818G>A (p.Arg1273His)	PCDH15 (R1202H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434600	NM_001384140.1(PCDH15):c.1612G>A (p.Glu538Lys)	PCDH15 (E501K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432505	NM_033056.4(PCDH15):c.5054C>G (p.Ser1685Ter)	PCDH15 (S1616* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2113765	NM_001384140.1(PCDH15):c.157+9G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112802	NM_001384140.1(PCDH15):c.111A>C (p.Gly37=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092695	NM_001384140.1(PCDH15):c.157+12T>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069179	NM_001384140.1(PCDH15):c.157+7G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004771	NM_001384140.1(PCDH15):c.96C>T (p.Cys32=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1801412	NM_001354404.2(PCDH15):c.-156+225495_-156+225533del	PCDH15	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1700995	NM_001384140.1(PCDH15):c.152G>A (p.Arg51Gln)	LOC105378311, PCDH15 (R51Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1669893	NM_001384140.1(PCDH15):c.92-7T>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669272	NM_001384140.1(PCDH15):c.157+9G>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666452	NM_001384140.1(PCDH15):c.108G>A (p.Arg36=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1584555	NM_001384140.1(PCDH15):c.153G>T (p.Arg51=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1573233	NM_001384140.1(PCDH15):c.126C>A (p.Thr42=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1543070	NM_001384140.1(PCDH15):c.144A>G (p.Glu48=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527586	GRCh37/hg19 10q21.1(chr10:55199169-56857578)	PCDH15	Copy number gain	not specified	GUncertain significance
Select item 1340616	GRCh37/hg19 10q21.1(chr10:55584785-55776189)x1	PCDH15	Copy number loss	not provided	GUncertain significance
Select item 1340340	GRCh37/hg19 10q21.1(chr10:56362064-56762641)x1	PCDH15	Copy number loss	not provided	GUncertain significance
Select item 1324856	NM_033056.4(PCDH15):c.4632del (p.Arg1545fs)	PCDH15 (R1476fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1321407	NM_001384140.1(PCDH15):c.157+41381G>C	PCDH15, LOC105378311	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1298186	NM_001384140.1(PCDH15):c.92-165G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264686	NM_001384140.1(PCDH15):c.92-444C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261924	NM_001384140.1(PCDH15):c.157+75G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253647	NM_001384140.1(PCDH15):c.157+198A>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219971	NM_001384140.1(PCDH15):c.92-13T>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218969	NM_001384140.1(PCDH15):c.157+301G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206738	NM_001384140.1(PCDH15):c.92-178G>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197591	NM_001384140.1(PCDH15):c.92-483A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193608	NM_001384140.1(PCDH15):c.92-131T>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188036	NM_001384140.1(PCDH15):c.92-816C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1108702	NM_001384140.1(PCDH15):c.92-8C>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1089021	NM_001384140.1(PCDH15):c.92-8C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993430	NM_001384140.1(PCDH15):c.92-18del	LOC105378311, PCDH15	Deletion (intron variant)	not provided	GLikely benign
Select item 990894	NM_001384140.1(PCDH15):c.1003C>G (p.Pro335Ala)	PCDH15 (P298A +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 990891	NM_001384140.1(PCDH15):c.1268C>T (p.Pro423Leu)	PCDH15 (P386L +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 990888	NM_001384140.1(PCDH15):c.1697_1699del (p.Thr566del)	PCDH15 (T529del +5 more)	Deletion (inframe_deletion)	Usher syndrome type 1F	GUncertain significance
Select item 990887	NM_001384140.1(PCDH15):c.1799C>G (p.Thr600Ser)	PCDH15 (T563S +5 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 990886	NM_001384140.1(PCDH15):c.1897G>A (p.Ala633Thr)	PCDH15 (A596T +5 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 990232	NM_001384140.1(PCDH15):c.2751+7G>T	PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F	GUncertain significance
Select item 990231	NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His)	PCDH15 (L1001H +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance

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