ClinVar for Gene (Select 3070) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244995	NC_000010.10:g.(?_95930917)_(96354631_?)dup	HELLS, NOC3L +2 more	Duplication	not provided	GUncertain significance
Select item 3105077	NM_018063.5(HELLS):c.353C>G (p.Ala118Gly)	HELLS (Q2E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3105076	NM_018063.5(HELLS):c.2453A>C (p.Glu818Ala)	HELLS (E688A +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105074	NM_018063.5(HELLS):c.1565A>T (p.Asp522Val)	HELLS (D398V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105073	NM_018063.5(HELLS):c.1411C>T (p.Pro471Ser)	HELLS (P373S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105071	NM_018063.5(HELLS):c.1040A>G (p.Tyr347Cys)	HELLS (Y315C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063150	GRCh37/hg19 10q23.33-24.1(chr10:96180463-97226361)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3015339	NM_018063.5(HELLS):c.1143G>A (p.Leu381=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006972	NM_018063.5(HELLS):c.1254T>C (p.Thr418=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006224	NM_018063.5(HELLS):c.1746C>T (p.Asp582=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004830	NM_018063.5(HELLS):c.2055A>G (p.Ala685=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994931	NM_018063.5(HELLS):c.333+15C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992409	NM_018063.5(HELLS):c.1838A>T (p.Lys613Ile)	HELLS (K252I +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991069	NM_018063.5(HELLS):c.1902C>T (p.Tyr634=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986598	NM_018063.5(HELLS):c.828C>T (p.Val276=)	HELLS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2986063	NM_018063.5(HELLS):c.1395A>G (p.Glu465=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983849	NM_018063.5(HELLS):c.754T>C (p.Leu252=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981848	NM_018063.5(HELLS):c.2423-7C>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981569	NM_018063.5(HELLS):c.478-16C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981485	NM_018063.5(HELLS):c.1833A>G (p.Leu611=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974944	NM_018063.5(HELLS):c.825T>A (p.Leu275=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974453	NM_018063.5(HELLS):c.1033-13A>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973888	NM_018063.5(HELLS):c.2346-4A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973536	NM_018063.5(HELLS):c.2142A>G (p.Thr714=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972848	NM_018063.5(HELLS):c.180G>T (p.Ser60=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971636	NM_018063.5(HELLS):c.1179T>A (p.Leu393=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971563	NM_018063.5(HELLS):c.1531C>A (p.Arg511=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969713	NM_018063.5(HELLS):c.1035T>C (p.His345=)	HELLS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2965086	NM_018063.5(HELLS):c.371-12T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959402	NM_018063.5(HELLS):c.1489-7C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956464	NM_018063.5(HELLS):c.477+16T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956258	NM_018063.5(HELLS):c.1551T>C (p.Asn517=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908437	NM_018063.5(HELLS):c.1509T>C (p.Ser503=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898557	NM_018063.5(HELLS):c.96A>G (p.Glu32=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885844	NM_018063.5(HELLS):c.1768-6_1768-4del	HELLS	Deletion (intron variant)	not provided	GLikely benign
Select item 2883433	NM_018063.5(HELLS):c.438A>G (p.Glu146=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880074	NM_018063.5(HELLS):c.1489-16dup	HELLS	Duplication (intron variant)	not provided	GLikely benign
Select item 2876948	NM_018063.5(HELLS):c.204T>G (p.Leu68=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873691	NM_018063.5(HELLS):c.1971+3A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867727	NM_018063.5(HELLS):c.371-13T>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867596	NM_018063.5(HELLS):c.1851+11T>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859864	NM_018063.5(HELLS):c.889-14A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858643	NM_018063.5(HELLS):c.1971+13dup	HELLS	Duplication (intron variant)	not provided	GLikely benign
Select item 2853899	NM_018063.5(HELLS):c.112G>C (p.Glu38Gln)	HELLS (E22Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2845697	NM_018063.5(HELLS):c.2085T>C (p.Asp695=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834655	NM_018063.5(HELLS):c.301G>T (p.Glu101Ter)	HELLS (E85* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2833635	NM_018063.5(HELLS):c.1681C>T (p.Gln561Ter)	HELLS (Q529* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2833490	NM_018063.5(HELLS):c.1628+18A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832125	NM_018063.5(HELLS):c.1816C>T (p.Arg606Ter)	HELLS (R200* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2831569	NM_018063.5(HELLS):c.2088+16A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830323	NM_018063.5(HELLS):c.1186T>C (p.Leu396=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826135	NM_018063.5(HELLS):c.1662T>C (p.Ser554=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820177	NM_018063.5(HELLS):c.1230-19A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813119	NM_018063.5(HELLS):c.306A>G (p.Arg102=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802762	NM_018063.5(HELLS):c.1033-17dup	HELLS	Duplication (intron variant)	not provided	GLikely benign
Select item 2801379	NM_018063.5(HELLS):c.1653T>G (p.Pro551=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796027	NM_018063.5(HELLS):c.1528C>T (p.Arg510Ter)	HELLS (R412* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2793435	NM_018063.5(HELLS):c.298T>C (p.Leu100=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793061	NM_018063.5(HELLS):c.333+16G>A	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792033	NM_018063.5(HELLS):c.1326+17T>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783506	NM_018063.5(HELLS):c.371-14dup	HELLS	Duplication (intron variant)	not provided	GBenign
Select item 2783407	NM_018063.5(HELLS):c.2496C>T (p.Ser832=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776959	NM_018063.5(HELLS):c.2345+16T>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772533	NM_018063.5(HELLS):c.774C>T (p.Cys258=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2771342	NM_018063.5(HELLS):c.276+18A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765744	NM_018063.5(HELLS):c.1499T>G (p.Ile500Ser)	HELLS (I362S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764512	NM_018063.5(HELLS):c.22G>A (p.Gly8Ser)	HELLS (G8S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2762822	NM_018063.5(HELLS):c.2248+16G>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756749	NM_018063.5(HELLS):c.277-11T>C	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756239	NM_018063.5(HELLS):c.1629-19G>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753613	NM_018063.5(HELLS):c.1647T>C (p.Asn549=)	HELLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699551	NM_018063.5(HELLS):c.371-17A>G	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692895	NM_018063.5(HELLS):c.32-12C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684614	GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3	ACSM6, ALDH18A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2682278	NM_018063.5(HELLS):c.453T>A (p.Ala151=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2616776	NM_018063.5(HELLS):c.251C>G (p.Thr84Arg)	HELLS (T68R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2549938	NM_018063.5(HELLS):c.1594A>T (p.Ile532Phe)	HELLS (I126F +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540052	NM_018063.5(HELLS):c.1771G>A (p.Asp591Asn)	HELLS (D453N +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531099	NM_018063.5(HELLS):c.893C>G (p.Pro298Arg)	HELLS (P282R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508898	NM_018063.5(HELLS):c.1246G>A (p.Asp416Asn)	HELLS (D292N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472263	NM_018063.5(HELLS):c.785T>C (p.Ile262Thr)	HELLS (I262T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2420066	NM_018063.5(HELLS):c.1230-7C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415372	NM_018063.5(HELLS):c.1046A>G (p.Lys349Arg)	HELLS (K211R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2344393	NM_018063.5(HELLS):c.134A>C (p.Glu45Ala)	HELLS (E29A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342177	NM_018063.5(HELLS):c.955C>T (p.Arg319Trp)	HELLS (R319W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2323696	NM_018063.5(HELLS):c.1423A>G (p.Lys475Glu)	HELLS (K351E +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267925	NM_018063.5(HELLS):c.49A>G (p.Met17Val)	HELLS (M17V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244217	NM_018063.5(HELLS):c.497C>T (p.Thr166Ile)	HELLS (T166I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218075	NM_018063.5(HELLS):c.1094G>A (p.Arg365His)	HELLS (R227H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2187781	NM_018063.5(HELLS):c.32-9C>T	HELLS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177735	NM_018063.5(HELLS):c.789A>G (p.Ala263=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175050	NM_018063.5(HELLS):c.895A>G (p.Thr299Ala)	HELLS (T175A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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