"GeneDx"[submitter] AND "NCAPH2"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 1292076	NC_000022.11:g.50523425T>C	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1806547	NM_005138.3(SCO2):c.800G>C (p.Ter267Ser)	SCO2, NCAPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1518963	NM_005138.3(SCO2):c.787A>G (p.Ser263Gly)	NCAPH2, SCO2 (S263G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1300717	NM_005138.3(SCO2):c.785G>A (p.Arg262His)	NCAPH2, SCO2 (R262H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 139088	NM_005138.3(SCO2):c.776C>T (p.Ala259Val)	TYMP, SCO2 +1 more (A259V)	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GBenign/Likely benign
Select item 215129	NM_005138.3(SCO2):c.764G>A (p.Arg255Gln)	NCAPH2, SCO2 (R255Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139087	NM_005138.3(SCO2):c.763C>A (p.Arg255=)	SCO2, NCAPH2	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2663033	NM_005138.3(SCO2):c.750_756dup (p.Ser253fs)	NCAPH2, SCO2 (S253fs)	Duplication (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1584332	NM_005138.3(SCO2):c.752C>T (p.Ser251Leu)	NCAPH2, SCO2 (S251L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 382126	NM_005138.3(SCO2):c.738G>A (p.Ser246=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2552664	NM_005138.3(SCO2):c.737C>T (p.Ser246Leu)	NCAPH2, SCO2 (S246L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2154459	NM_005138.3(SCO2):c.724G>C (p.Gly242Arg)	NCAPH2, SCO2 (G242R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1309702	NM_005138.3(SCO2):c.724G>A (p.Gly242Ser)	SCO2, NCAPH2 (G242S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3378333	NM_005138.3(SCO2):c.719A>G (p.Tyr240Cys)	NCAPH2, SCO2 (Y240C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 390092	NM_005138.3(SCO2):c.714G>A (p.Thr238=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2435781	NM_005138.3(SCO2):c.686A>G (p.Tyr229Cys)	NCAPH2, SCO2 (Y229C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139086	NM_005138.3(SCO2):c.633A>C (p.Ala211=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +6 more	GBenign
Select item 424006	NM_005138.3(SCO2):c.618dup (p.Val207fs)	NCAPH2, SCO2 (V207fs)	Duplication (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 506294	NM_005138.3(SCO2):c.597C>A (p.Ala199=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 139085	NM_005138.3(SCO2):c.582C>T (p.Ser194=)	TYMP, NCAPH2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +5 more	GBenign/Likely benign
Select item 702033	NM_005138.3(SCO2):c.576C>T (p.Thr192=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GConflicting classifications of pathogenicity
Select item 507159	NM_005138.3(SCO2):c.540C>T (p.Tyr180=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 378567	NM_005138.3(SCO2):c.537C>G (p.Arg179=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 215130	NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)	NCAPH2, SCO2 (R179C)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +3 more	GUncertain significance
Select item 215128	NM_005138.3(SCO2):c.527C>T (p.Ala176Val)	NCAPH2, SCO2 (A176V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1703995	NM_005138.3(SCO2):c.520G>A (p.Val174Ile)	NCAPH2, SCO2 (V174I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 215133	NM_005138.3(SCO2):c.517G>A (p.Asp173Asn)	NCAPH2, SCO2 (D173N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1029942	NM_005138.3(SCO2):c.512G>A (p.Arg171Gln)	NCAPH2, SCO2 (R171Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 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 1315170	NM_005138.3(SCO2):c.437_445del (p.Gln146_Val148del)	NCAPH2, SCO2	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 5681	NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)	NCAPH2, SCO2 (E140K)	Single nucleotide variant (3 prime UTR variant +1 more)	Tip-toe gait +4 more	GPathogenic
Select item 1303312	NM_005138.3(SCO2):c.395_406del (p.His132_Ile136delinsLeu)	SCO2, NCAPH2	Deletion (3 prime UTR variant +1 more)	not provided	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 1311662	NM_005138.3(SCO2):c.377T>C (p.Met126Thr)	NCAPH2, SCO2 (M126T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1709774	NM_005138.3(SCO2):c.358C>T (p.Arg120Trp)	NCAPH2, SCO2 (R120W)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GUncertain significance
Select item 50905	NM_005138.3(SCO2):c.341G>A (p.Arg114His)	NCAPH2, SCO2 (R114H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1516838	NM_005138.3(SCO2):c.340C>G (p.Arg114Gly)	NCAPH2, SCO2 (R114G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139084	NM_005138.3(SCO2):c.327C>T (p.His109=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +5 more	GBenign/Likely benign
Select item 1191154	NM_005138.3(SCO2):c.306C>T (p.Gly102=)	SCO2, NCAPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 511285	NM_005138.3(SCO2):c.255G>A (p.Leu85=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1208507	NM_005138.3(SCO2):c.244_246del (p.Lys82del)	NCAPH2, SCO2 (K82del)	Deletion (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 342126	NM_005138.3(SCO2):c.237G>A (p.Arg79=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more	GConflicting classifications of pathogenicity
Select item 2430622	NM_005138.3(SCO2):c.221C>A (p.Ala74Asp)	NCAPH2, SCO2 (A74D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 139083	NM_005138.3(SCO2):c.201C>T (p.Phe67=)	SCO2, NCAPH2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 900447	NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)	NCAPH2, SCO2 (R58Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	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 215126	NM_005138.3(SCO2):c.116C>T (p.Ser39Leu)	NCAPH2, SCO2 (S39L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2885252	NM_005138.3(SCO2):c.59_60delinsCA (p.Arg20Pro)	NCAPH2, SCO2 (R20P)	Indel (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 139082	NM_005138.3(SCO2):c.59G>C (p.Arg20Pro)	SCO2, TYMP +1 more (R20P)	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +6 more	GBenign
Select item 222816	NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)	NCAPH2, SCO2 (R6fs)	Insertion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GPathogenic/Likely pathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253555	GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1	KLHDC7B, ODF3B +14 more	Copy number loss	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 61