"PreventionGenetics, part of Exact Sciences"[submitter] AND "HERC1"[ge - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 758095	NM_003922.4(HERC1):c.14406C>T (p.Tyr4802=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder +1 more	GBenign/Likely benign
Select item 718457	NM_003922.4(HERC1):c.13716C>T (p.Leu4572=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 726645	NM_003922.4(HERC1):c.13612-6C>G	HERC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3048770	NM_003922.4(HERC1):c.12233-7G>A	HERC1	Single nucleotide variant (intron variant)	HERC1-related disorder	GLikely benign
Select item 3030589	NM_003922.4(HERC1):c.12232+7T>C	HERC1	Single nucleotide variant (intron variant)	HERC1-related disorder	GLikely benign
Select item 3058347	NM_003922.4(HERC1):c.11922C>T (p.Asn3974=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 3046586	NM_003922.4(HERC1):c.11853C>G (p.Thr3951=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 3057777	NM_003922.4(HERC1):c.11016A>G (p.Val3672=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 3049621	NM_003922.4(HERC1):c.10989A>G (p.Leu3663=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder	GLikely benign
Select item 2179624	NM_003922.4(HERC1):c.10085-6_10085-4del	HERC1	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 2074194	NM_003922.4(HERC1):c.10054A>G (p.Asn3352Asp)	HERC1 (N3352D)	Single nucleotide variant (missense variant)	HERC1-related disorder +1 more	GLikely benign
Select item 2176434	NM_003922.4(HERC1):c.9656G>A (p.Arg3219Gln)	HERC1 (R3219Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2645431	NM_003922.4(HERC1):c.9579G>A (p.Ala3193=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder +1 more	GLikely benign
Select item 731247	NM_003922.4(HERC1):c.9501T>G (p.Pro3167=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 708025	NM_003922.4(HERC1):c.9493G>T (p.Ala3165Ser)	HERC1 (A3165S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1028683	NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile)	HERC1 (V3147I)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +2 more	GConflicting classifications of pathogenicity
Select item 2629500	NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1485611	NM_003922.4(HERC1):c.9223+9_9223+13del	HERC1	Deletion (intron variant)	HERC1-related disorder +1 more	GUncertain significance
Select item 2716464	NM_003922.4(HERC1):c.9216G>A (p.Val3072=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1405668	NM_003922.4(HERC1):c.9086G>C (p.Gly3029Ala)	HERC1 (G3029A)	Single nucleotide variant (missense variant)	HERC1-related disorder +1 more	GUncertain significance
Select item 1203354	NM_003922.4(HERC1):c.8542G>A (p.Gly2848Ser)	HERC1 (G2848S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 722752	NM_003922.4(HERC1):c.8520T>G (p.Ala2840=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1600144	NM_003922.4(HERC1):c.8444G>A (p.Gly2815Glu)	HERC1 (G2815E)	Single nucleotide variant (missense variant)	HERC1-related disorder +1 more	GBenign/Likely benign
Select item 745774	NM_003922.4(HERC1):c.8324-6G>C	HERC1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3048949	NM_003922.4(HERC1):c.7847-10del	HERC1	Deletion (intron variant)	HERC1-related disorder	GLikely benign
Select item 1665877	NM_003922.4(HERC1):c.7170T>C (p.Ala2390=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 741924	NM_003922.4(HERC1):c.7148C>T (p.Ala2383Val)	HERC1 (A2383V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 709160	NM_003922.4(HERC1):c.6776G>A (p.Arg2259His)	HERC1 (R2259H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 709481	NM_003922.4(HERC1):c.6420G>A (p.Val2140=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 714628	NM_003922.4(HERC1):c.6195A>G (p.Thr2065=)	HERC1	Single nucleotide variant (synonymous variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +2 more	GLikely benign
Select item 712842	NM_003922.4(HERC1):c.6159C>T (p.His2053=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2369909	NM_003922.4(HERC1):c.5941G>A (p.Val1981Ile)	HERC1 (V1981I)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1193119	NM_003922.4(HERC1):c.5839C>T (p.Leu1947=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 738962	NM_003922.4(HERC1):c.5592C>T (p.Phe1864=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder +1 more	GLikely benign
Select item 1197788	NM_003922.4(HERC1):c.5044C>G (p.Leu1682Val)	HERC1 (L1682V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1032167	NM_003922.4(HERC1):c.4631A>G (p.Lys1544Arg)	HERC1 (K1544R)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +2 more	GConflicting classifications of pathogenicity
Select item 2577836	NM_003922.4(HERC1):c.4396C>T (p.Arg1466Ter)	HERC1 (R1466*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 741925	NM_003922.4(HERC1):c.4238G>A (p.Arg1413Gln)	HERC1 (R1413Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1032166	NM_003922.4(HERC1):c.3574T>C (p.Cys1192Arg)	HERC1 (C1192R)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +3 more	GUncertain significance
Select item 779843	NM_003922.4(HERC1):c.3565T>C (p.Leu1189=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder +1 more	GBenign/Likely benign
Select item 377238	NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)	HERC1 (G1125D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 752523	NM_003922.4(HERC1):c.3258C>G (p.Leu1086=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder +2 more	GLikely benign
Select item 547868	NM_003922.4(HERC1):c.3021+6C>T	HERC1	Single nucleotide variant (intron variant)	HERC1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 733766	NM_003922.4(HERC1):c.2580G>A (p.Arg860=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1214609	NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly)	HERC1 (A663G)	Single nucleotide variant (missense variant)	HERC1-related disorder +2 more	GBenign/Likely benign
Select item 3036161	NM_003922.4(HERC1):c.1938T>C (p.Cys646=)	HERC1	Single nucleotide variant (synonymous variant)	HERC1-related disorder +1 more	GLikely benign
Select item 782597	NM_003922.4(HERC1):c.1259C>T (p.Thr420Met)	HERC1 (T420M)	Single nucleotide variant (missense variant)	HERC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2630250	NM_003922.4(HERC1):c.1052C>G (p.Ser351Trp)	HERC1 (S351W)	Single nucleotide variant (missense variant)	HERC1-related disorder	GUncertain significance
Select item 1276746	NM_003922.4(HERC1):c.228C>G (p.Asp76Glu)	HERC1 (D76E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 49