C4310766[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1261782	NM_003922.4(HERC1):c.12879A>T (p.Ile4293=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1257860	NM_003922.4(HERC1):c.11739C>G (p.Leu3913=)	HERC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1279199	NM_003922.4(HERC1):c.11433+7T>C	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1243466	NM_003922.4(HERC1):c.11166G>C (p.Glu3722Asp)	HERC1 (E3722D)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1285339	NM_003922.4(HERC1):c.9223+19T>C	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1285340	NM_003922.4(HERC1):c.9093G>A (p.Pro3031=)	HERC1	Single nucleotide variant (synonymous variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1260045	NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val)	HERC1 (I2220V)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1248193	NM_003922.4(HERC1):c.5675-7A>G	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1270672	NM_003922.4(HERC1):c.5087G>C (p.Gly1696Ala)	HERC1 (G1696A)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1221445	NM_003922.4(HERC1):c.3743-8A>G	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign
Select item 1250769	NM_003922.4(HERC1):c.3155-36G>A	HERC1	Single nucleotide variant (intron variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation +1 more	GBenign