"Baylor Genetics"[submitter] AND "NCAPH2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678607	NM_005138.3(SCO2):c.672_682del (p.Ser225fs)	NCAPH2, SCO2 (S225fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2678606	NM_005138.3(SCO2):c.609_610del (p.His203fs)	NCAPH2, SCO2 (H203fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 1913825	NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)	NCAPH2, SCO2 (G193S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2130639	NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)	NCAPH2, SCO2 (Q182*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 215130	NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)	NCAPH2, SCO2 (R179C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 2678605	NM_005138.3(SCO2):c.514_515dup (p.Asp172fs)	SCO2, NCAPH2 (D172fs)	Duplication (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 1029942	NM_005138.3(SCO2):c.512G>A (p.Arg171Gln)	SCO2, NCAPH2 (R171Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1911265	NM_005138.3(SCO2):c.481C>T (p.Gln161Ter)	NCAPH2, SCO2 (Q161*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1219241	NM_005138.3(SCO2):c.281T>C (p.Leu94Pro)	NCAPH2, SCO2 (L94P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1034155	NM_005138.3(SCO2):c.256C>T (p.Gln86Ter)	NCAPH2, SCO2 (Q86*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GPathogenic
Select item 2678608	NM_005138.3(SCO2):c.233_236delinsA (p.Leu78_Arg79delinsGln)	NCAPH2, SCO2	Indel (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2413129	NM_005138.3(SCO2):c.227_230del (p.Leu76fs)	NCAPH2, SCO2 (L76fs)	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678604	NM_005138.3(SCO2):c.225G>A (p.Trp75Ter)	NCAPH2, SCO2 (W75*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2442147	NM_005138.3(SCO2):c.202G>C (p.Gly68Arg)	NCAPH2, SCO2 (G68R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GUncertain significance
Select item 5678	NM_005138.3(SCO2):c.157C>T (p.Gln53Ter)	NCAPH2, SCO2 (Q53*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2011646	NM_005138.3(SCO2):c.45_46del (p.Gln16fs)	NCAPH2, SCO2 (Q16fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic