ClinVar for Gene (Select 65217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075826	NM_001384140.1(PCDH15):c.282T>C (p.Leu94=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3068473	NM_001384140.1(PCDH15):c.423T>G (p.Asn141Lys)	PCDH15 (N119K +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D	GUncertain significance
Select item 3068472	NM_001384140.1(PCDH15):c.4671+1564del	PCDH15 (E1685fs +1 more)	Deletion (frameshift variant +2 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 3063126	GRCh37/hg19 10q21.1(chr10:54790789-56488063)x1	PCDH15	Copy number loss	not specified	GPathogenic
Select item 3063125	GRCh37/hg19 10q21.1(chr10:54459920-56080457)x1	MBL2, PCDH15	Copy number loss	not specified	GPathogenic
Select item 3058320	NM_001384140.1(PCDH15):c.5052G>A (p.Ala1684=)	PCDH15	Single nucleotide variant (synonymous variant)	PCDH15-related condition	GLikely benign
Select item 3049915	NM_001384140.1(PCDH15):c.594+10T>G	PCDH15	Single nucleotide variant (intron variant)	PCDH15-related condition	GLikely benign
Select item 3030339	NM_001384140.1(PCDH15):c.4672-1601G>T	PCDH15	Single nucleotide variant (intron variant +2 more)	PCDH15-related condition	GLikely benign
Select item 3026722	NM_001384140.1(PCDH15):c.280C>T (p.Leu94Phe)	PCDH15 (L72F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025705	NM_001384140.1(PCDH15):c.4260C>A (p.Pro1420=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023125	NM_001384140.1(PCDH15):c.318+16del	PCDH15	Deletion (intron variant)	not provided	GBenign
Select item 3022082	NM_001384140.1(PCDH15):c.2869-13A>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020964	NM_001384140.1(PCDH15):c.2091+14C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020859	NM_001384140.1(PCDH15):c.1441-13T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020684	NM_001384140.1(PCDH15):c.706-20T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020467	NM_001384140.1(PCDH15):c.3807-14T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019596	NM_001384140.1(PCDH15):c.3122+16C>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019483	NM_001384140.1(PCDH15):c.2752-20C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019274	NM_001384140.1(PCDH15):c.877-21CT[2]	PCDH15	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3018162	NM_001384140.1(PCDH15):c.3009+19T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017800	NM_001384140.1(PCDH15):c.4368-3146A>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017783	NM_001384140.1(PCDH15):c.319-20A>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016605	NM_001384140.1(PCDH15):c.1099-16T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015941	NM_001384140.1(PCDH15):c.1917+14T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013881	NM_001384140.1(PCDH15):c.2220+8G>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013321	NM_001384140.1(PCDH15):c.1998-21GTTT[4]	PCDH15	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3011032	NM_001384140.1(PCDH15):c.3010-14del	PCDH15	Deletion (intron variant)	not provided	GBenign
Select item 3008164	NM_001384140.1(PCDH15):c.699A>G (p.Gln233=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007615	NM_001384140.1(PCDH15):c.474+17T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007391	NM_001384140.1(PCDH15):c.4368-3146A>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006384	NM_001384140.1(PCDH15):c.2527-20T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005498	NM_033056.4(PCDH15):c.5673_5676dup (p.Glu1893delinsThrTer)	PCDH15	Duplication (nonsense +1 more)	not provided	GLikely benign
Select item 3001494	NM_001384140.1(PCDH15):c.813G>C (p.Val271=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000522	NM_001384140.1(PCDH15):c.2256G>A (p.Val752=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998161	NM_033056.4(PCDH15):c.4410_4413dup (p.Val1472fs)	PCDH15 (V1452fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2997578	NM_001384140.1(PCDH15):c.3156G>A (p.Gly1052=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997503	NM_001384140.1(PCDH15):c.1593C>T (p.Leu531=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996640	NM_001384140.1(PCDH15):c.2217A>G (p.Val739=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996220	NM_001384140.1(PCDH15):c.1768C>G (p.Pro590Ala)	PCDH15 (P553A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995610	NM_001384140.1(PCDH15):c.877-20T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995204	NM_001384140.1(PCDH15):c.1725C>G (p.Val575=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994869	NM_001384140.1(PCDH15):c.2092-12T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992927	NM_001384140.1(PCDH15):c.3980T>A (p.Phe1327Tyr)	PCDH15 (F1290Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992458	NM_001384140.1(PCDH15):c.1305+11T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992408	NM_001384140.1(PCDH15):c.319-15A>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992349	NM_001384140.1(PCDH15):c.1784+14G>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991297	NM_001384140.1(PCDH15):c.1785-14C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989270	NM_033056.4(PCDH15):c.5033C>G (p.Ser1678Ter)	PCDH15 (S1658* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2989025	NM_001384140.1(PCDH15):c.986-10T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988664	NM_001384140.1(PCDH15):c.2751+13G>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987362	NM_001384140.1(PCDH15):c.4203-18T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984184	NM_033056.4(PCDH15):c.5601A>G (p.Thr1867=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983562	NM_001384140.1(PCDH15):c.2985T>C (p.Asn995=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982284	NM_001384140.1(PCDH15):c.1059A>G (p.Val353=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982002	NM_001384140.1(PCDH15):c.91+16G>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981881	NM_001384140.1(PCDH15):c.381T>A (p.Thr127=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980126	NM_001384140.1(PCDH15):c.1305+3_1305+6dup	PCDH15	Duplication (splice donor variant)	not provided	GLikely benign
Select item 2979782	NM_001384140.1(PCDH15):c.876+12C>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977317	NM_033056.4(PCDH15):c.5021T>A (p.Leu1674Ter)	PCDH15 (L1605* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2974588	NM_001384140.1(PCDH15):c.3984-18A>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974515	NM_001384140.1(PCDH15):c.3806+16T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972368	NM_001384140.1(PCDH15):c.708C>T (p.Asp236=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972056	NM_001384140.1(PCDH15):c.1441-10C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2971937	NM_001384140.1(PCDH15):c.1998-15T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970414	NM_001384140.1(PCDH15):c.3010-8T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969040	NM_001384140.1(PCDH15):c.4209A>G (p.Lys1403=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967537	NM_001384140.1(PCDH15):c.4182G>T (p.Val1394=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967413	NM_001384140.1(PCDH15):c.1998-1G>A	PCDH15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2966696	NM_001384140.1(PCDH15):c.1147A>G (p.Ile383Val)	PCDH15 (I346V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2964926	NM_001384140.1(PCDH15):c.3912C>G (p.Thr1304=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963245	NM_001384140.1(PCDH15):c.3501+15G>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962958	NM_001384140.1(PCDH15):c.1306-14del	PCDH15	Deletion (intron variant)	not provided	GLikely benign
Select item 2962896	NM_001384140.1(PCDH15):c.1306-11T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961594	NM_001384140.1(PCDH15):c.1784+18C>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956970	NM_001384140.1(PCDH15):c.1539C>T (p.Ser513=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956918	NM_001384140.1(PCDH15):c.1591-19T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956913	NM_001384140.1(PCDH15):c.567T>C (p.Tyr189=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956753	NM_001384140.1(PCDH15):c.877-16T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956645	NM_001384140.1(PCDH15):c.1917+11T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955504	NM_001384140.1(PCDH15):c.3233-11T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920445	NM_001384140.1(PCDH15):c.1441-12C>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919224	NM_001384140.1(PCDH15):c.3233-13T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2919207	NM_001384140.1(PCDH15):c.3009+19T>A	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918777	NM_001384140.1(PCDH15):c.1440+17T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917708	NM_001384140.1(PCDH15):c.738C>T (p.Thr246=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916371	NM_001384140.1(PCDH15):c.2526+15G>A	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915658	NM_001384140.1(PCDH15):c.3373+11C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914761	NM_001384140.1(PCDH15):c.2092-15G>A	PCDH15	Single nucleotide variant (intron variant)	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 2911700	NM_001384140.1(PCDH15):c.3009+16C>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911062	NM_001384140.1(PCDH15):c.303A>G (p.Arg101=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910715	NM_001384140.1(PCDH15):c.595-13T>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909759	NM_001384140.1(PCDH15):c.158-14T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909758	NM_001384140.1(PCDH15):c.3502-11C>A	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908583	NM_033056.4(PCDH15):c.4382_4385dup (p.His1462fs)	PCDH15 (H1393fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2908243	NM_001384140.1(PCDH15):c.2752-13T>C	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907999	NM_001384140.1(PCDH15):c.985+12A>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906577	NM_001384140.1(PCDH15):c.3502-6G>T	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905798	NM_001384140.1(PCDH15):c.595-15C>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign

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