"Ambry Genetics"[submitter] AND "MATCAP2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2489011	NM_001199706.2(MATCAP2):c.952C>T (p.Arg318Cys)	MATCAP2 (R270C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493406	NM_001199706.2(MATCAP2):c.944C>G (p.Ser315Cys)	MATCAP2 (S318C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2454423	NM_001199706.2(MATCAP2):c.709A>C (p.Lys237Gln)	MATCAP2 (K288Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552094	NM_001199706.2(MATCAP2):c.388A>C (p.Ser130Arg)	MATCAP2 (S130R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459963	NM_001199706.2(MATCAP2):c.356G>A (p.Arg119Gln)	MATCAP2 (R157Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2518403	NM_001199706.2(MATCAP2):c.239C>T (p.Ser80Phe)	MATCAP2 (S118F +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606082	NM_001199706.2(MATCAP2):c.221A>G (p.Gln74Arg)	MATCAP2 (Q74R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468946	NM_001199706.2(MATCAP2):c.200A>C (p.Lys67Thr)	MATCAP2 (K105T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance