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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 186

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361971	NM_001384140.1(PCDH15):c.1844G>A (p.Arg615His)	PCDH15 (R578H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360273	NM_001384140.1(PCDH15):c.2722G>A (p.Gly908Ser)	PCDH15 (G837S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338139	NM_001384140.1(PCDH15):c.92-24483A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3245033	NC_000010.10:g.(?_55587133)_(56138722_?)dup	PCDH15	Duplication	not provided	GLikely pathogenic
Select item 3245032	NC_000010.10:g.(?_55698555)_(55782977_?)dup	PCDH15	Duplication	not provided	GLikely pathogenic
Select item 3245031	NC_000010.10:g.(?_55826497)_(55996711_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245030	NC_000010.10:g.(?_55581618)_(56077221_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245029	NC_000010.10:g.(?_56077011)_(56106264_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245028	NC_000010.10:g.(?_56106115)_(56138712_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245027	NC_000010.10:g.(?_55782632)_(56138722_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245024	NC_000010.10:g.(?_55581618)_(55591313_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245023	NC_000010.10:g.(?_55912840)_(56287657_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245022	NC_000010.10:g.(?_55581618)_(55755545_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245021	NC_000010.10:g.(?_56077011)_(56424022_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245020	NC_000010.10:g.(?_55662983)_(55849843_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245019	NC_000010.10:g.(?_55826497)_(55892787_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245018	NC_000010.10:g.(?_55755389)_(55913073_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245017	NC_000010.10:g.(?_56138522)_(56138722_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245016	NC_000010.10:g.(?_55581618)_(55583138_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245015	NC_000010.10:g.(?_56423912)_(56424022_?)del	PCDH15	Deletion	not provided	GPathogenic
Select item 3245013	NC_000010.10:g.(?_55912840)_(55913073_?)del	PCDH15	Deletion	not provided	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 3239691	NM_033056.4(PCDH15):c.5576_5577insTAAT (p.Lys1859fs)	PCDH15 (K1790fs +8 more)	Insertion (frameshift variant +1 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 3239690	NM_033056.4(PCDH15):c.4937_4940dup (p.Glu1648fs)	PCDH15 (E1579fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 3239689	NM_001384140.1(PCDH15):c.5160_5163dup (p.Asp1722Ter)	PCDH15 (D1657* +4 more)	Duplication (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 3217824	NM_001354404.2(PCDH15):c.-156+27658C>T	MTRNR2L5, PCDH15	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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	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 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 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 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 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 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 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 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

<< First< Prev

Page of 2