ClinVar for Gene (Select 347365) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3347338	NM_198510.3(ITIH6):c.304C>T (p.Gln102Ter)	ITIH6 (Q102*)	Single nucleotide variant (nonsense)	ITIH6-related disorder	GUncertain significance
Select item 3286942	NM_198510.3(ITIH6):c.1741G>A (p.Asp581Asn)	ITIH6 (D581N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286941	NM_198510.3(ITIH6):c.574C>T (p.Pro192Ser)	ITIH6 (P192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286940	NM_198510.3(ITIH6):c.599G>C (p.Arg200Pro)	ITIH6 (R200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286939	NM_198510.3(ITIH6):c.2348A>G (p.His783Arg)	ITIH6 (H783R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286938	NM_198510.3(ITIH6):c.2305G>A (p.Ala769Thr)	ITIH6 (A769T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286937	NM_198510.3(ITIH6):c.763G>A (p.Glu255Lys)	ITIH6 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286936	NM_198510.3(ITIH6):c.265A>G (p.Asn89Asp)	ITIH6 (N89D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286934	NM_198510.3(ITIH6):c.2692C>T (p.Pro898Ser)	ITIH6 (P898S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286933	NM_198510.3(ITIH6):c.2779C>T (p.Leu927Phe)	ITIH6 (L927F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286932	NM_198510.3(ITIH6):c.3863G>A (p.Arg1288His)	ITIH6 (R1288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286931	NM_198510.3(ITIH6):c.531G>T (p.Glu177Asp)	ITIH6 (E177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286930	NM_198510.3(ITIH6):c.3742C>A (p.His1248Asn)	ITIH6 (H1248N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286929	NM_198510.3(ITIH6):c.271A>G (p.Lys91Glu)	ITIH6 (K91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286928	NM_198510.3(ITIH6):c.221A>T (p.Asp74Val)	ITIH6 (D74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286927	NM_198510.3(ITIH6):c.461G>A (p.Arg154Gln)	ITIH6 (R154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286926	NM_198510.3(ITIH6):c.1753C>T (p.Arg585Cys)	ITIH6 (R585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286924	NM_198510.3(ITIH6):c.3095C>T (p.Thr1032Ile)	ITIH6 (T1032I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3111649	NM_198510.3(ITIH6):c.64T>C (p.Tyr22His)	ITIH6 (Y22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111648	NM_198510.3(ITIH6):c.391C>T (p.Arg131Cys)	ITIH6 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111647	NM_198510.3(ITIH6):c.3638G>A (p.Arg1213His)	ITIH6 (R1213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111645	NM_198510.3(ITIH6):c.3613C>T (p.Leu1205Phe)	ITIH6 (L1205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111644	NM_198510.3(ITIH6):c.3517C>T (p.Arg1173Cys)	ITIH6 (R1173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111643	NM_198510.3(ITIH6):c.3427C>A (p.Gln1143Lys)	ITIH6 (Q1143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111642	NM_198510.3(ITIH6):c.3338A>G (p.Glu1113Gly)	ITIH6 (E1113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111641	NM_198510.3(ITIH6):c.3163A>T (p.Ser1055Cys)	ITIH6 (S1055C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111640	NM_198510.3(ITIH6):c.2858C>G (p.Thr953Ser)	ITIH6 (T953S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111639	NM_198510.3(ITIH6):c.2662C>G (p.Pro888Ala)	ITIH6 (P888A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111638	NM_198510.3(ITIH6):c.2564C>A (p.Ser855Tyr)	ITIH6 (S855Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111637	NM_198510.3(ITIH6):c.2511G>T (p.Met837Ile)	ITIH6 (M837I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111635	NM_198510.3(ITIH6):c.1399G>A (p.Glu467Lys)	ITIH6 (E467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111634	NM_198510.3(ITIH6):c.134C>T (p.Thr45Met)	ITIH6 (T45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111633	NM_198510.3(ITIH6):c.1214C>T (p.Thr405Met)	ITIH6 (T405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3056022	NM_198510.3(ITIH6):c.3122G>C (p.Trp1041Ser)	ITIH6 (W1041S)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GBenign
Select item 3055391	NM_198510.3(ITIH6):c.1149C>T (p.Gly383=)	ITIH6	Single nucleotide variant (synonymous variant)	ITIH6-related disorder	GLikely benign
Select item 3054524	NM_198510.3(ITIH6):c.3942A>T (p.Ter1314Cys)	ITIH6	Single nucleotide variant (stop lost)	ITIH6-related disorder	GLikely benign
Select item 3051273	NM_198510.3(ITIH6):c.2104T>A (p.Tyr702Asn)	ITIH6 (Y702N)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GLikely benign
Select item 3048952	NM_198510.3(ITIH6):c.3238+2T>C	ITIH6	Single nucleotide variant (splice donor variant)	ITIH6-related disorder	GLikely benign
Select item 3048330	NM_198510.3(ITIH6):c.1337G>C (p.Arg446Pro)	ITIH6 (R446P)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GLikely benign
Select item 3048238	NM_198510.3(ITIH6):c.2928A>G (p.Thr976=)	ITIH6	Single nucleotide variant (synonymous variant)	ITIH6-related disorder	GLikely benign
Select item 3046367	NM_198510.3(ITIH6):c.103-6T>C	ITIH6	Single nucleotide variant (intron variant)	ITIH6-related disorder	GLikely benign
Select item 3043574	NM_198510.3(ITIH6):c.1681C>T (p.Arg561Cys)	ITIH6 (R561C)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GLikely benign
Select item 3040095	NM_198510.3(ITIH6):c.3791G>A (p.Arg1264Lys)	ITIH6 (R1264K)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GBenign
Select item 3035733	NM_198510.3(ITIH6):c.2722A>C (p.Ile908Leu)	ITIH6 (I908L)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GLikely benign
Select item 3034039	NM_198510.3(ITIH6):c.2555T>C (p.Ile852Thr)	ITIH6 (I852T)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GBenign
Select item 3030737	NM_198510.3(ITIH6):c.773T>C (p.Ile258Thr)	ITIH6 (I258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689264	NM_198510.3(ITIH6):c.1861del (p.Arg621fs)	ITIH6 (R621fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2689263	NM_198510.3(ITIH6):c.2398C>T (p.Gln800Ter)	ITIH6 (Q800*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685748	GRCh37/hg19 Xp11.22-11.21(chrX:54123342-55013132)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2681341	NM_198510.3(ITIH6):c.3223A>T (p.Thr1075Ser)	ITIH6 (T1075S)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2660674	NM_198510.3(ITIH6):c.1220C>T (p.Pro407Leu)	ITIH6 (P407L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2660673	NM_198510.3(ITIH6):c.1822C>T (p.Leu608=)	ITIH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660672	NM_198510.3(ITIH6):c.3616G>T (p.Glu1206Ter)	ITIH6 (E1206*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2660671	NM_198510.3(ITIH6):c.3744C>T (p.His1248=)	ITIH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636453	NM_198510.3(ITIH6):c.673A>G (p.Ile225Val)	ITIH6 (I225V)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GUncertain significance
Select item 2633942	NM_198510.3(ITIH6):c.854T>C (p.Val285Ala)	ITIH6 (V285A)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GUncertain significance
Select item 2629449	NM_198510.3(ITIH6):c.2448G>C (p.Gln816His)	ITIH6 (Q816H)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GUncertain significance
Select item 2628712	NM_198510.3(ITIH6):c.2188C>T (p.Pro730Ser)	ITIH6 (P730S)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GUncertain significance
Select item 2619655	NM_198510.3(ITIH6):c.1903C>A (p.Pro635Thr)	ITIH6 (P635T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613474	NM_198510.3(ITIH6):c.3736T>C (p.Phe1246Leu)	ITIH6 (F1246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608196	NM_198510.3(ITIH6):c.1826T>C (p.Val609Ala)	ITIH6 (V609A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607777	NM_198510.3(ITIH6):c.2687C>T (p.Pro896Leu)	ITIH6 (P896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604734	NM_198510.3(ITIH6):c.3409C>A (p.Gln1137Lys)	ITIH6 (Q1137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599479	NM_198510.3(ITIH6):c.1750A>G (p.Thr584Ala)	ITIH6 (T584A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592924	NM_198510.3(ITIH6):c.3312C>A (p.His1104Gln)	ITIH6 (H1104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589458	NM_198510.3(ITIH6):c.1855G>C (p.Glu619Gln)	ITIH6 (E619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560732	NM_198510.3(ITIH6):c.1058G>A (p.Cys353Tyr)	ITIH6 (C353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552303	NM_198510.3(ITIH6):c.589G>A (p.Gly197Ser)	ITIH6 (G197S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548110	NM_198510.3(ITIH6):c.518G>C (p.Arg173Thr)	ITIH6 (R173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521075	NM_198510.3(ITIH6):c.3890G>A (p.Arg1297His)	ITIH6 (R1297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518654	NM_198510.3(ITIH6):c.3418A>G (p.Thr1140Ala)	ITIH6 (T1140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515584	NM_198510.3(ITIH6):c.3694G>A (p.Gly1232Ser)	ITIH6 (G1232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508869	NM_198510.3(ITIH6):c.2816G>A (p.Arg939Lys)	ITIH6 (R939K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2490298	NM_198510.3(ITIH6):c.3722G>A (p.Gly1241Asp)	ITIH6 (G1241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490181	NM_198510.3(ITIH6):c.800A>C (p.Tyr267Ser)	ITIH6 (Y267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488111	NM_198510.3(ITIH6):c.3703C>T (p.Leu1235Phe)	ITIH6 (L1235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481197	NM_198510.3(ITIH6):c.3934G>A (p.Val1312Ile)	ITIH6 (V1312I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475929	NM_198510.3(ITIH6):c.3460G>A (p.Ala1154Thr)	ITIH6 (A1154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470284	NM_198510.3(ITIH6):c.1316G>A (p.Arg439His)	ITIH6 (R439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463060	NM_198510.3(ITIH6):c.3089T>C (p.Phe1030Ser)	ITIH6 (F1030S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461313	NM_198510.3(ITIH6):c.1692G>T (p.Trp564Cys)	ITIH6 (W564C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460494	NM_198510.3(ITIH6):c.1240G>A (p.Val414Ile)	ITIH6 (V414I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458673	NM_198510.3(ITIH6):c.3518G>A (p.Arg1173His)	ITIH6 (R1173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2411631	NM_198510.3(ITIH6):c.2611C>T (p.Leu871Phe)	ITIH6 (L871F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411088	NM_198510.3(ITIH6):c.3402C>A (p.His1134Gln)	ITIH6 (H1134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406751	NM_198510.3(ITIH6):c.1156G>T (p.Val386Leu)	ITIH6 (V386L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389026	NM_198510.3(ITIH6):c.1738C>T (p.Arg580Cys)	ITIH6 (R580C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380738	NM_198510.3(ITIH6):c.1495G>T (p.Gly499Cys)	ITIH6 (G499C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377305	NM_198510.3(ITIH6):c.128G>A (p.Arg43His)	ITIH6 (R43H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377058	NM_198510.3(ITIH6):c.2767C>T (p.Leu923Phe)	ITIH6 (L923F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372692	NM_198510.3(ITIH6):c.392G>A (p.Arg131His)	ITIH6 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370025	NM_198510.3(ITIH6):c.2239C>A (p.Gln747Lys)	ITIH6 (Q747K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365758	NM_198510.3(ITIH6):c.2140G>A (p.Gly714Ser)	ITIH6 (G714S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363752	NM_198510.3(ITIH6):c.1318C>T (p.Arg440Cys)	ITIH6 (R440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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