"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NCAPH2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1523095	NM_005138.3(SCO2):c.784C>T (p.Arg262Cys)	NCAPH2, SCO2 (R262C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1362918	NM_005138.3(SCO2):c.713C>T (p.Thr238Met)	NCAPH2, SCO2 (T238M)	Single nucleotide variant (3 prime UTR variant +1 more)	Myopia 6 +3 more	GUncertain significance
Select item 1391854	NM_005138.3(SCO2):c.652dup (p.Gln218fs)	NCAPH2, SCO2 (Q218fs)	Duplication (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GUncertain significance
Select item 1353618	NM_005138.3(SCO2):c.616C>T (p.Arg206Cys)	NCAPH2, SCO2 (R206C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1335833	NM_005138.3(SCO2):c.508G>C (p.Glu170Gln)	NCAPH2, SCO2 (E170Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 215127	NM_005138.3(SCO2):c.378G>A (p.Met126Ile)	NCAPH2, SCO2 (M126I)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GUncertain significance
Select item 342125	NM_005138.3(SCO2):c.244A>G (p.Lys82Glu)	SCO2, NCAPH2 (K82E)	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 1491943	NM_005138.3(SCO2):c.127C>G (p.Pro43Ala)	NCAPH2, SCO2 (P43A)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GUncertain significance