6250[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 1276318	NM_172362.3(KCNH1):c.*38C>A	KCNH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1277290	NM_172362.3(KCNH1):c.*19A>C	KCNH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1269525	NM_172362.3(KCNH1):c.*6C>T	KCNH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2744632	NM_172362.3(KCNH1):c.2967C>G (p.Ser989Arg)	KCNH1 (S962R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984500	NM_172362.3(KCNH1):c.2967C>T (p.Ser989=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562872	NM_172362.3(KCNH1):c.2963C>G (p.Ala988Gly)	KCNH1 (A961G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710791	NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser)	KCNH1 (A961S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2432995	NM_172362.3(KCNH1):c.2957T>C (p.Phe986Ser)	KCNH1 (F959S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103705	NM_172362.3(KCNH1):c.2952C>G (p.Asp984Glu)	KCNH1 (D957E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484072	NM_172362.3(KCNH1):c.2948_2951del (p.Arg983fs)	KCNH1 (R956fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 1363508	NM_172362.3(KCNH1):c.2950G>C (p.Asp984His)	KCNH1 (D957H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810562	NM_172362.3(KCNH1):c.2947A>G (p.Arg983Gly)	KCNH1 (R956G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077086	NM_172362.3(KCNH1):c.2942C>A (p.Ser981Ter)	KCNH1 (S954* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1395202	NM_172362.3(KCNH1):c.2942C>G (p.Ser981Ter)	KCNH1 (S954* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely benign
Select item 1391369	NM_172362.3(KCNH1):c.2942C>T (p.Ser981Leu)	KCNH1 (S981L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975411	NM_172362.3(KCNH1):c.2941T>G (p.Ser981Ala)	KCNH1 (S954A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2792036	NM_172362.3(KCNH1):c.2935C>T (p.Pro979Ser)	KCNH1 (P952S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426249	NM_172362.3(KCNH1):c.2930A>G (p.Gln977Arg)	KCNH1 (Q950R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795545	NM_172362.3(KCNH1):c.2928A>G (p.Pro976=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729829	NM_172362.3(KCNH1):c.2928A>C (p.Pro976=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877090	NM_172362.3(KCNH1):c.2927C>T (p.Pro976Leu)	KCNH1 (P976L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197902	NM_172362.3(KCNH1):c.2922G>A (p.Ser974=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660773	NM_172362.3(KCNH1):c.2921C>T (p.Ser974Leu)	KCNH1 (S947L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1417325	NM_172362.3(KCNH1):c.2912T>G (p.Phe971Cys)	KCNH1 (F944C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598978	NM_172362.3(KCNH1):c.2911T>C (p.Phe971Leu)	KCNH1 (F944L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2802683	NM_172362.3(KCNH1):c.2909T>G (p.Leu970Trp)	KCNH1 (L943W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964634	NM_172362.3(KCNH1):c.2905G>T (p.Glu969Ter)	KCNH1 (E969* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2857644	NM_172362.3(KCNH1):c.2905G>A (p.Glu969Lys)	KCNH1 (E969K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000645	NM_172362.3(KCNH1):c.2903A>G (p.Gln968Arg)	KCNH1 (Q941R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528907	NM_172362.3(KCNH1):c.2901T>A (p.Pro967=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822063	NM_172362.3(KCNH1):c.2894A>G (p.Gln965Arg)	KCNH1 (Q965R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909785	NM_172362.3(KCNH1):c.2892_2893del (p.Gln965fs)	KCNH1 (Q938fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2004399	NM_172362.3(KCNH1):c.2889del (p.Ser964fs)	KCNH1 (S937fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1435165	NM_172362.3(KCNH1):c.2864T>A (p.Leu955His)	KCNH1 (L928H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034356	NM_172362.3(KCNH1):c.2859_2861delinsTAC (p.Glu953_Ile954delinsAspThr)	KCNH1	Indel (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 1375151	NM_172362.3(KCNH1):c.2857G>C (p.Glu953Gln)	KCNH1 (E926Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886265	NM_172362.3(KCNH1):c.2851C>T (p.Leu951Phe)	KCNH1 (L924F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495236	NM_172362.3(KCNH1):c.2844G>C (p.Glu948Asp)	KCNH1 (E948D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487932	NM_172362.3(KCNH1):c.2839A>G (p.Ile947Val)	KCNH1 (I920V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130766	NM_172362.3(KCNH1):c.2837A>G (p.Asn946Ser)	KCNH1 (N919S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818628	NM_172362.3(KCNH1):c.2835C>T (p.Thr945=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875597	NM_172362.3(KCNH1):c.2832G>A (p.Met944Ile)	KCNH1 (M917I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919735	NM_172362.3(KCNH1):c.2829A>C (p.Lys943Asn)	KCNH1 (K916N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213227	NM_172362.3(KCNH1):c.2824G>A (p.Ala942Thr)	KCNH1 (A915T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 772671	NM_172362.3(KCNH1):c.2823C>T (p.Asn941=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1460548	NM_172362.3(KCNH1):c.2812A>C (p.Lys938Gln)	KCNH1 (K911Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432996	NM_172362.3(KCNH1):c.2800A>G (p.Lys934Glu)	KCNH1 (K907E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153741	NM_172362.3(KCNH1):c.2797C>A (p.Leu933Met)	KCNH1 (L933M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436564	NM_172362.3(KCNH1):c.2794G>A (p.Glu932Lys)	KCNH1 (E905K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627487	NM_172362.3(KCNH1):c.2793C>T (p.His931=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306379	NM_172362.3(KCNH1):c.2788A>G (p.Arg930Gly)	KCNH1 (R903G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574302	NM_172362.3(KCNH1):c.2779C>G (p.Leu927Val)	KCNH1 (L900V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1252695	NM_172362.3(KCNH1):c.2775A>T (p.Thr925=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2826373	NM_172362.3(KCNH1):c.2771C>A (p.Ala924Asp)	KCNH1 (A924D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778789	NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)	KCNH1 (Q896P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1432964	NM_172362.3(KCNH1):c.2764C>G (p.Leu922Val)	KCNH1 (L922V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1550295	NM_172362.3(KCNH1):c.2763G>A (p.Thr921=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580422	NM_172362.3(KCNH1):c.2762C>T (p.Thr921Met)	KCNH1 (T894M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2763792	NM_172362.3(KCNH1):c.2752C>T (p.Pro918Ser)	KCNH1 (P891S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567821	NM_172362.3(KCNH1):c.2739G>A (p.Ser913=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065380	NM_172362.3(KCNH1):c.2738C>T (p.Ser913Leu)	KCNH1 (S913L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699286	NM_172362.3(KCNH1):c.2735A>C (p.His912Pro)	KCNH1 (H885P +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome	GUncertain significance
Select item 2897578	NM_172362.3(KCNH1):c.2733G>A (p.Lys911=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963703	NM_172362.3(KCNH1):c.2730C>G (p.Val910=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803046	NM_172362.3(KCNH1):c.2728G>T (p.Val910Phe)	KCNH1 (V883F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038221	NM_172362.3(KCNH1):c.2728G>A (p.Val910Ile)	KCNH1 (V883I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783245	NM_172362.3(KCNH1):c.2727G>A (p.Glu909=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250758	NM_172362.3(KCNH1):c.2726A>C (p.Glu909Ala)	KCNH1 (E882A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362065	NM_172362.3(KCNH1):c.2708G>A (p.Arg903Gln)	KCNH1 (R876Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980023	NM_172362.3(KCNH1):c.2707C>G (p.Arg903Gly)	KCNH1 (R876G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952747	NM_172362.3(KCNH1):c.2707C>T (p.Arg903Trp)	KCNH1 (R876W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190528	NM_172362.3(KCNH1):c.2704G>C (p.Asp902His)	KCNH1 (D902H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944625	NM_172362.3(KCNH1):c.2704G>A (p.Asp902Asn)	KCNH1 (D875N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2694086	NM_172362.3(KCNH1):c.2695A>G (p.Ser899Gly)	KCNH1 (S899G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2124721	NM_172362.3(KCNH1):c.2689G>A (p.Ala897Thr)	KCNH1 (A870T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639881	NM_172362.3(KCNH1):c.2684G>A (p.Gly895Asp)	KCNH1 (G868D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578453	NM_172362.3(KCNH1):c.2682G>C (p.Val894=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076035	NM_172362.3(KCNH1):c.2681T>G (p.Val894Gly)	KCNH1 (V867G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620625	NM_172362.3(KCNH1):c.2680G>A (p.Val894Met)	KCNH1 (V867M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1375088	NM_172362.3(KCNH1):c.2680G>T (p.Val894Leu)	KCNH1 (V867L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2897875	NM_172362.3(KCNH1):c.2669G>A (p.Arg890His)	KCNH1 (R890H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852892	NM_172362.3(KCNH1):c.2666T>C (p.Leu889Ser)	KCNH1 (L862S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017776	NM_172362.3(KCNH1):c.2662G>A (p.Asp888Asn)	KCNH1 (D888N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770322	NM_172362.3(KCNH1):c.2661C>T (p.Ser887=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1706444	NM_172362.3(KCNH1):c.2658G>C (p.Lys886Asn)	KCNH1 (K859N +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GUncertain significance
Select item 2147134	NM_172362.3(KCNH1):c.2655C>T (p.Thr885=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798768	NM_172362.3(KCNH1):c.2649C>T (p.Gly883=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715034	NM_172362.3(KCNH1):c.2647G>A (p.Gly883Ser)	KCNH1 (G856S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555215	NM_172362.3(KCNH1):c.2646T>C (p.Ser882=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644973	NM_172362.3(KCNH1):c.2640_2641del (p.Cys880_Asp881delinsTer)	KCNH1	Microsatellite (nonsense)	not provided	GLikely benign
Select item 1514015	NM_172362.3(KCNH1):c.2639G>A (p.Cys880Tyr)	KCNH1 (C853Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2882258	NM_172362.3(KCNH1):c.2637G>A (p.Ser879=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377792	NM_172362.3(KCNH1):c.2636C>T (p.Ser879Leu)	KCNH1 (S879L +1 more)	Single nucleotide variant (missense variant)	KCNH1 associated disorder +1 more	GUncertain significance
Select item 2828779	NM_172362.3(KCNH1):c.2626A>C (p.Lys876Gln)	KCNH1 (K876Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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