"Baylor Genetics"[submitter] AND "HERC1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321116	NM_003922.4(HERC1):c.13892G>A (p.Ser4631Asn)	HERC1 (S4631N)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GUncertain significance
Select item 1031371	NM_003922.4(HERC1):c.12302G>A (p.Gly4101Asp)	HERC1 (G4101D)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1031370	NM_003922.4(HERC1):c.11428T>G (p.Ser3810Ala)	HERC1 (S3810A)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028676	NM_003922.4(HERC1):c.11230C>T (p.Arg3744Trp)	HERC1 (R3744W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031369	NM_003922.4(HERC1):c.10739G>A (p.Arg3580Gln)	HERC1 (R3580Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028684	NM_003922.4(HERC1):c.9900T>A (p.Asn3300Lys)	HERC1 (N3300K)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028683	NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile)	HERC1 (V3147I)	Single nucleotide variant (missense variant)	HERC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1028682	NM_003922.4(HERC1):c.8617C>T (p.Arg2873Cys)	HERC1 (R2873C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032168	NM_003922.4(HERC1):c.7088C>T (p.Ser2363Leu)	HERC1 (S2363L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028680	NM_003922.4(HERC1):c.6949C>A (p.Leu2317Ile)	HERC1 (L2317I)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028679	NM_003922.4(HERC1):c.6109C>G (p.Pro2037Ala)	HERC1 (P2037A)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1028678	NM_003922.4(HERC1):c.5944G>A (p.Glu1982Lys)	HERC1 (E1982K)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
Select item 1032167	NM_003922.4(HERC1):c.4631A>G (p.Lys1544Arg)	HERC1 (K1544R)	Single nucleotide variant (missense variant)	HERC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1028677	NM_003922.4(HERC1):c.3635A>T (p.Tyr1212Phe)	HERC1 (Y1212F)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance
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 795963	NM_003922.4(HERC1):c.2319C>T (p.Asn773=)	HERC1	Single nucleotide variant (synonymous variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GConflicting classifications of pathogenicity
Select item 1031372	NM_003922.4(HERC1):c.1853A>C (p.Lys618Thr)	HERC1 (K618T)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GUncertain significance