13201[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 892768	NM_030957.4(ADAMTS10):c.*630C>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892769	NM_030957.4(ADAMTS10):c.*578C>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892770	NM_030957.4(ADAMTS10):c.*563C>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 330566	NM_030957.4(ADAMTS10):c.*456dup	ADAMTS10	Duplication (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 330567	NM_030957.4(ADAMTS10):c.*456del	ADAMTS10	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 330568	NM_030957.4(ADAMTS10):c.*449G>C	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 892771	NM_030957.4(ADAMTS10):c.*447G>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 330569	NM_030957.4(ADAMTS10):c.*428A>G	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign
Select item 330570	NM_030957.4(ADAMTS10):c.*411C>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893574	NM_030957.4(ADAMTS10):c.*356G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893575	NM_030957.4(ADAMTS10):c.*330A>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 330571	NM_030957.4(ADAMTS10):c.*322C>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893576	NM_030957.4(ADAMTS10):c.*311A>G	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893577	NM_030957.4(ADAMTS10):c.*259G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 330572	NM_030957.4(ADAMTS10):c.*238dup	ADAMTS10	Duplication (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 893578	NM_030957.4(ADAMTS10):c.*209C>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893579	NM_030957.4(ADAMTS10):c.*171G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GLikely benign
Select item 893580	NM_030957.4(ADAMTS10):c.*157G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893865	NM_030957.4(ADAMTS10):c.*146G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 330573	NM_030957.4(ADAMTS10):c.*85dup	ADAMTS10, LOC130063441	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 893866	NM_030957.4(ADAMTS10):c.*81G>C	ADAMTS10, LOC130063441	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 330574	NM_030957.4(ADAMTS10):c.*81G>T	ADAMTS10, LOC130063441	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893867	NM_030957.4(ADAMTS10):c.*47A>G	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 330575	NM_030957.4(ADAMTS10):c.*36T>C	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893868	NM_030957.4(ADAMTS10):c.*20G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 2719916	NM_030957.4(ADAMTS10):c.3306C>A (p.Gly1102=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573212	NM_030957.4(ADAMTS10):c.3306C>T (p.Gly1102=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 518307	NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln)	ADAMTS10 (H1101Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1550112	NM_030957.4(ADAMTS10):c.3300C>T (p.Cys1100=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472490	NM_030957.4(ADAMTS10):c.3282G>C (p.Gln1094His)	ADAMTS10 (Q1094H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2017635	NM_030957.4(ADAMTS10):c.3282del (p.Met1095fs)	ADAMTS10 (M582fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1392003	NM_030957.4(ADAMTS10):c.3277C>A (p.Arg1093Ser)	ADAMTS10 (R580S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981194	NM_030957.4(ADAMTS10):c.3270C>G (p.Ala1090=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330576	NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr)	ADAMTS10 (A1090T +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 2140209	NM_030957.4(ADAMTS10):c.3264C>A (p.Ser1088Arg)	ADAMTS10 (S1088R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595050	NM_030957.4(ADAMTS10):c.3262A>G (p.Ser1088Gly)	ADAMTS10 (S1088G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1408887	NM_030957.4(ADAMTS10):c.3244C>G (p.Leu1082Val)	ADAMTS10 (L1082V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846639	NM_030957.4(ADAMTS10):c.3234C>T (p.Cys1078=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393213	NM_030957.4(ADAMTS10):c.3221A>G (p.Lys1074Arg)	ADAMTS10 (K1074R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799379	NM_030957.4(ADAMTS10):c.3216G>C (p.Val1072=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728840	NM_030957.4(ADAMTS10):c.3203-6_3203-5del	ADAMTS10	Deletion (intron variant)	not provided	GLikely benign
Select item 1989651	NM_030957.4(ADAMTS10):c.3203-5C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1085700	NM_030957.4(ADAMTS10):c.3203-7C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993721	NM_030957.4(ADAMTS10):c.3203-8C>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135540	NM_030957.4(ADAMTS10):c.3203-10G>C	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960327	NM_030957.4(ADAMTS10):c.3203-11C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967757	NM_030957.4(ADAMTS10):c.3203-12C>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615202	NM_030957.4(ADAMTS10):c.3203-13C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000201	NM_030957.4(ADAMTS10):c.3203-15C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958694	NM_030957.4(ADAMTS10):c.3203-18_3203-15del	ADAMTS10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2986282	NM_030957.4(ADAMTS10):c.3203-19C>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222233	NM_030957.4(ADAMTS10):c.3203-129A>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257362	NM_030957.4(ADAMTS10):c.3202+252C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330577	NM_030957.4(ADAMTS10):c.3202+13C>T	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 1395371	NM_030957.4(ADAMTS10):c.3202+9del	ADAMTS10	Deletion (intron variant)	not provided	GLikely benign
Select item 2798604	NM_030957.4(ADAMTS10):c.3195C>A (p.Gly1065=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 81472	NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser)	ADAMTS10 (G1065S +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GBenign/Likely benign
Select item 2536042	NM_030957.4(ADAMTS10):c.3188G>T (p.Gly1063Val)	ADAMTS10 (G1063V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1982056	NM_030957.4(ADAMTS10):c.3182C>A (p.Thr1061Asn)	ADAMTS10 (T1061N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347511	NM_030957.4(ADAMTS10):c.3177C>A (p.Ser1059Arg)	ADAMTS10 (S546R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111554	NM_030957.4(ADAMTS10):c.3172G>C (p.Asp1058His)	ADAMTS10 (D1058H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307049	NM_030957.4(ADAMTS10):c.3169T>A (p.Cys1057Ser)	ADAMTS10 (C1057S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2881870	NM_030957.4(ADAMTS10):c.3165C>T (p.Ala1055=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649212	NM_030957.4(ADAMTS10):c.3160G>C (p.Glu1054Gln)	ADAMTS10 (E1054Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330578	NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 2862729	NM_030957.4(ADAMTS10):c.3154C>T (p.Gln1052Ter)	ADAMTS10 (Q539* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3011231	NM_030957.4(ADAMTS10):c.3153G>A (p.Gln1051=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117460	NM_030957.4(ADAMTS10):c.3150G>A (p.Thr1050=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045738	NM_030957.4(ADAMTS10):c.3149C>T (p.Thr1050Met)	ADAMTS10 (T1050M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379013	NM_030957.4(ADAMTS10):c.3149C>G (p.Thr1050Arg)	ADAMTS10 (T1050R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566439	NM_030957.4(ADAMTS10):c.3141G>T (p.Pro1047=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908290	NM_030957.4(ADAMTS10):c.3138G>A (p.Arg1046=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888447	NM_030957.4(ADAMTS10):c.3133C>T (p.Leu1045=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399921	NM_030957.4(ADAMTS10):c.3123C>T (p.Cys1041=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973907	NM_030957.4(ADAMTS10):c.3120G>A (p.Glu1040=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904335	NM_030957.4(ADAMTS10):c.3116A>C (p.His1039Pro)	ADAMTS10 (H1039P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963350	NM_030957.4(ADAMTS10):c.3114G>T (p.Ser1038=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229713	NM_030957.4(ADAMTS10):c.3112T>A (p.Ser1038Thr)	ADAMTS10 (S1038T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1930089	NM_030957.4(ADAMTS10):c.3108G>C (p.Gln1036His)	ADAMTS10 (Q1036H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693248	NM_030957.4(ADAMTS10):c.3105C>A (p.Gly1035=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330579	NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 1426981	NM_030957.4(ADAMTS10):c.3097C>T (p.His1033Tyr)	ADAMTS10 (H1033Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920270	NM_030957.4(ADAMTS10):c.3092C>A (p.Thr1031Asn)	ADAMTS10 (T1031N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720491	NM_030957.4(ADAMTS10):c.3085C>A (p.Arg1029Ser)	ADAMTS10 (R1029S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975198	NM_030957.4(ADAMTS10):c.3084G>A (p.Val1028=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570589	NM_030957.4(ADAMTS10):c.3083T>G (p.Val1028Gly)	ADAMTS10 (V1028G +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 1115032	NM_030957.4(ADAMTS10):c.3081G>A (p.Ser1027=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090289	NM_030957.4(ADAMTS10):c.3079T>C (p.Ser1027Pro)	ADAMTS10 (S1027P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775528	NM_030957.4(ADAMTS10):c.3066G>A (p.Gly1022=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632559	NM_030957.4(ADAMTS10):c.3066G>C (p.Gly1022=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724083	NM_030957.4(ADAMTS10):c.3060C>T (p.Gly1020=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020426	NM_030957.4(ADAMTS10):c.3060C>G (p.Gly1020=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707739	NM_030957.4(ADAMTS10):c.3051A>G (p.Ala1017=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535520	NM_030957.4(ADAMTS10):c.3045C>T (p.Cys1015=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976341	NM_030957.4(ADAMTS10):c.3043-5_3043-4insCCCCCTT	ADAMTS10	Insertion (intron variant)	not provided	GLikely benign
Select item 3013222	NM_030957.4(ADAMTS10):c.3043-5C>G	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572817	NM_030957.4(ADAMTS10):c.3043-5C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 330580	NM_030957.3(ADAMTS10):c.3043-12_3043-6dup	ADAMTS10	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign

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