ClinVar for Gene (Select 10075) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062509	GRCh37/hg19 Xp11.22(chrX:53155402-53787878)	HSD17B10, HUWE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062116	NM_031407.7(HUWE1):c.2195_2203del (p.Glu732_Glu734del)	HUWE1	Deletion (inframe_deletion)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 3058338	NM_031407.7(HUWE1):c.3503+6G>A	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related condition	GLikely benign
Select item 3056307	NM_031407.7(HUWE1):c.8190T>C (p.Thr2730=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition	GLikely benign
Select item 3055024	NM_031407.7(HUWE1):c.105C>T (p.Leu35=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition	GLikely benign
Select item 3054699	NM_031407.7(HUWE1):c.2338A>G (p.Ile780Val)	HUWE1 (I780V)	Single nucleotide variant (missense variant)	HUWE1-related condition	GUncertain significance
Select item 3054300	NM_031407.7(HUWE1):c.6793G>A (p.Gly2265Ser)	HUWE1 (G2265S)	Single nucleotide variant (missense variant)	HUWE1-related condition	GLikely benign
Select item 3045485	NM_031407.7(HUWE1):c.8206+5C>G	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related condition	GLikely benign
Select item 3036879	NM_031407.7(HUWE1):c.7686T>C (p.His2562=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition	GLikely benign
Select item 3036807	NM_031407.7(HUWE1):c.2150G>A (p.Arg717Lys)	HUWE1 (R717K)	Single nucleotide variant (missense variant)	HUWE1-related condition	GUncertain significance
Select item 3032684	NM_031407.7(HUWE1):c.5641A>G (p.Asn1881Asp)	HUWE1 (N1881D)	Single nucleotide variant (missense variant)	HUWE1-related condition	GLikely benign
Select item 3032409	NM_031407.7(HUWE1):c.8418A>T (p.Pro2806=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition	GLikely benign
Select item 3030983	NM_031407.7(HUWE1):c.8807C>G (p.Ser2936Cys)	HUWE1 (S2936C)	Single nucleotide variant (missense variant)	HUWE1-related condition	GUncertain significance
Select item 3029947	NM_031407.7(HUWE1):c.9174T>C (p.Pro3058=)	HUWE1	Single nucleotide variant (synonymous variant)	HUWE1-related condition	GLikely benign
Select item 3029780	NM_031407.7(HUWE1):c.8984C>T (p.Thr2995Ile)	HUWE1 (T2995I)	Single nucleotide variant (missense variant)	HUWE1-related condition	GUncertain significance
Select item 3029661	NM_031407.7(HUWE1):c.4300G>C (p.Asp1434His)	HUWE1 (D1434H)	Single nucleotide variant (missense variant)	HUWE1-related condition	GUncertain significance
Select item 3029237	NM_031407.7(HUWE1):c.8206+4A>G	HUWE1	Single nucleotide variant (intron variant)	HUWE1-related condition	GLikely benign
Select item 3027350	NM_031407.7(HUWE1):c.9309G>T (p.Arg3103=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026720	NM_031407.7(HUWE1):c.12532-3T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026381	NM_031407.7(HUWE1):c.1243-7G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025565	NM_031407.7(HUWE1):c.4635T>C (p.Ala1545=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024336	NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His)	HUWE1 (R1780H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 3023842	NM_031407.7(HUWE1):c.1821A>G (p.Val607=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022503	NM_031407.7(HUWE1):c.10005C>T (p.His3335=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3017642	NM_031407.7(HUWE1):c.4192-10C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3016724	NM_031407.7(HUWE1):c.5721A>C (p.Ser1907=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3013231	NM_031407.7(HUWE1):c.1383+7T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011932	NM_031407.7(HUWE1):c.13062G>A (p.Glu4354=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011216	NM_031407.7(HUWE1):c.6542G>A (p.Cys2181Tyr)	HUWE1 (C2181Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010782	NM_031407.7(HUWE1):c.675C>T (p.His225=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010121	NM_031407.7(HUWE1):c.963+15G>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008705	NM_031407.7(HUWE1):c.2742+16G>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3006465	NM_031407.7(HUWE1):c.6881-20T>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004787	NM_031407.7(HUWE1):c.2616A>G (p.Arg872=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004438	NM_031407.7(HUWE1):c.8006-19T>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3003749	NM_031407.7(HUWE1):c.11418G>A (p.Glu3806=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3003085	NM_031407.7(HUWE1):c.10320C>T (p.His3440=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001944	NM_031407.7(HUWE1):c.5001+14C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001781	NM_031407.7(HUWE1):c.6055G>A (p.Ala2019Thr)	HUWE1 (A2019T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3000450	NM_031407.7(HUWE1):c.5661A>G (p.Glu1887=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997104	NM_031407.7(HUWE1):c.7923G>A (p.Leu2641=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996877	NM_031407.7(HUWE1):c.3816G>A (p.Ser1272=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996794	NM_031407.7(HUWE1):c.6585C>T (p.Ser2195=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996709	NM_031407.7(HUWE1):c.8841G>A (p.Pro2947=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996661	NM_031407.7(HUWE1):c.1467G>A (p.Glu489=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995020	NM_031407.7(HUWE1):c.505-19_505-18del	HUWE1	Deletion (intron variant)	not provided	GLikely benign
Select item 2993780	NM_031407.7(HUWE1):c.1002T>C (p.Ile334=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992972	NM_031407.7(HUWE1):c.5885-10G>A	HUWE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2991693	NM_031407.7(HUWE1):c.623C>T (p.Ala208Val)	HUWE1 (A208V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2991552	NM_031407.7(HUWE1):c.11252-15T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991532	NM_031407.7(HUWE1):c.4462-11dup	HUWE1	Duplication (intron variant)	not provided	GBenign
Select item 2991273	NM_031407.7(HUWE1):c.5784C>A (p.Thr1928=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2990980	NM_031407.7(HUWE1):c.7507+19G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990323	NM_031407.7(HUWE1):c.144+18C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990081	NM_031407.7(HUWE1):c.351+16G>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989828	NM_031407.7(HUWE1):c.5412C>G (p.Ile1804Met)	HUWE1 (I1804M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988982	NM_031407.7(HUWE1):c.8496C>G (p.Thr2832=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988956	NM_031407.7(HUWE1):c.11879-10C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2987926	NM_031407.7(HUWE1):c.3115A>C (p.Thr1039Pro)	HUWE1 (T1039P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2987008	NM_031407.7(HUWE1):c.11380-11C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983140	NM_031407.7(HUWE1):c.3688G>A (p.Val1230Ile)	HUWE1, LOC126863263 (V1230I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982987	NM_031407.7(HUWE1):c.6792T>G (p.Phe2264Leu)	HUWE1 (F2264L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982112	NM_031407.7(HUWE1):c.4206G>A (p.Arg1402=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2981045	NM_031407.7(HUWE1):c.568-18G>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980339	NM_031407.7(HUWE1):c.1779+13T>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979912	NM_031407.7(HUWE1):c.8162G>A (p.Cys2721Tyr)	HUWE1 (C2721Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979070	NM_031407.7(HUWE1):c.12532-9T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977924	NM_031407.7(HUWE1):c.6180G>A (p.Lys2060=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2977872	NM_031407.7(HUWE1):c.12832-11C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976964	NM_031407.7(HUWE1):c.8517T>G (p.Ala2839=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2976151	NM_031407.7(HUWE1):c.10036-4G>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975832	NM_031407.7(HUWE1):c.6313-19G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973567	NM_031407.7(HUWE1):c.11952C>G (p.Val3984=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973445	NM_031407.7(HUWE1):c.1243-6T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973273	NM_031407.7(HUWE1):c.11879-5C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2971338	NM_031407.7(HUWE1):c.6708-18_6708-13del	HUWE1	Deletion (intron variant)	not provided	GBenign
Select item 2971098	NM_031407.7(HUWE1):c.12903A>C (p.Thr4301=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2970243	NM_031407.7(HUWE1):c.3534T>C (p.Gly1178=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2969705	NM_031407.7(HUWE1):c.3504-14T>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2967804	NM_031407.7(HUWE1):c.1114+17A>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966867	NM_031407.7(HUWE1):c.6030+18G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965942	NM_031407.7(HUWE1):c.2743-9T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2964712	NM_031407.7(HUWE1):c.3503+11A>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964484	NM_031407.7(HUWE1):c.1489+13T>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964162	NM_031407.7(HUWE1):c.4977G>A (p.Thr1659=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2963337	NM_031407.7(HUWE1):c.10035+19A>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2962050	NM_031407.7(HUWE1):c.10026A>G (p.Gln3342=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961054	NM_031407.7(HUWE1):c.12831+14G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960890	NM_031407.7(HUWE1):c.10329C>T (p.Ile3443=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959580	NM_031407.7(HUWE1):c.9386-12C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957031	NM_031407.7(HUWE1):c.4825-20C>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956351	NM_031407.7(HUWE1):c.1957+11A>C	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956255	NM_031407.7(HUWE1):c.4191+17G>A	HUWE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2954814	NM_031407.7(HUWE1):c.5226C>G (p.Ile1742Met)	HUWE1 (I1742M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2921236	NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr)	HUWE1 (C3658Y)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2914370	NM_031407.7(HUWE1):c.6828G>T (p.Glu2276Asp)	HUWE1 (E2276D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912449	NM_031407.7(HUWE1):c.1260C>T (p.Gly420=)	HUWE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912414	NM_031407.7(HUWE1):c.6708-5C>T	HUWE1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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