"Baylor Genetics"[submitter] AND "MCPH1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032178	NM_024596.5(MCPH1):c.149T>G (p.Val50Gly)	MCPH1 (V48G +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1032179	NM_024596.5(MCPH1):c.151A>G (p.Ile51Val)	MCPH1 (I49V +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 731332	NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys)	MCPH1 (R184C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028326	NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp)	MCPH1 (E425D +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363562	NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp)	MCPH1, MCPH1-AS1 (S765W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 625670	GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328)	AGPAT5, ANGPT2 +15 more	Copy number gain	not provided	GPathogenic
Select item 625669	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	AGPAT5, ANGPT2 +37 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic