ClinVar for MedGen (Select 1748867) - ClinVar

Links from MedGen

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240429	NM_005138.3(SCO2):c.563del (p.Leu188fs)	NCAPH2, SCO2 (L188fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 3240428	NM_005138.3(SCO2):c.135_136del (p.Glu45fs)	NCAPH2, SCO2 (E45fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 3240427	NM_005138.3(SCO2):c.120_135del (p.Gly42fs)	NCAPH2, SCO2 (G42fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2737058	NM_005138.3(SCO2):c.401_402del (p.Pro134fs)	NCAPH2, SCO2 (P134fs)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2722786	NM_005138.3(SCO2):c.364C>T (p.Gln122Ter)	NCAPH2, SCO2 (Q122*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 2678605	NM_005138.3(SCO2):c.514_515dup (p.Asp172fs)	NCAPH2, SCO2 (D172fs)	Duplication (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely 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 (missense variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GUncertain significance
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 2413131	NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)	NCAPH2, SCO2 (R255W)	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 2413130	NM_005138.3(SCO2):c.533C>T (p.Ala178Val)	NCAPH2, SCO2 (A178V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GUncertain significance
Select item 2413129	NM_005138.3(SCO2):c.227_230del (p.Leu76fs)	NCAPH2, SCO2 (L76fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +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 2108900	NM_005138.3(SCO2):c.386G>A (p.Gly129Asp)	NCAPH2, SCO2 (G129D)	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 2062321	NM_005138.3(SCO2):c.202G>A (p.Gly68Arg)	NCAPH2, SCO2 (G68R)	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 2011646	NM_005138.3(SCO2):c.45_46del (p.Gln16fs)	NCAPH2, SCO2 (Q16fs)	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1913825	NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)	NCAPH2, SCO2 (G193S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 1709107	NM_005138.3(SCO2):c.250A>G (p.Arg84Gly)	SCO2, NCAPH2 (R84G)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	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 1517419	NM_005138.3(SCO2):c.327_328del (p.His109fs)	NCAPH2, SCO2 (H109fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GPathogenic/Likely pathogenic
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
Select item 1416404	NM_005138.3(SCO2):c.178C>T (p.Arg60Trp)	NCAPH2, SCO2 (R60W)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 1185198	NM_001169109.2(SCO2):c.-14+522A>G	SCO2	Single nucleotide variant (intron variant)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GBenign
Select item 1163688	NM_005138.3(SCO2):c.764G>T (p.Arg255Leu)	NCAPH2, SCO2 (R255L)	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 1054726	NM_005138.3(SCO2):c.303G>C (p.Gln101His)	NCAPH2, SCO2 (Q101H)	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 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 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 930878	NM_005138.3(SCO2):c.406A>C (p.Ile136Leu)	NCAPH2, SCO2 (I136L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 902939	NM_005138.3(SCO2):c.541G>A (p.Val181Ile)	SCO2, NCAPH2 (V181I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
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 900387	NM_005138.3(SCO2):c.226C>T (p.Leu76=)	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 800843	NM_005138.3(SCO2):c.2T>C (p.Met1Thr)	SCO2, NCAPH2 (M1T)	Single nucleotide variant (3 prime UTR variant +2 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 800057	NM_005138.3(SCO2):c.723C>T (p.Tyr241=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 342134	NM_005138.2(SCO2):c.-142G>C	SCO2	Single nucleotide variant (intron variant)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 342132	NM_005138.3(SCO2):c.-114G>C	SCO2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 342131	NM_005138.3(SCO2):c.-83A>G	LOC130067861, SCO2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 342130	NM_005138.3(SCO2):c.-78G>C	TYMP, LOC130067861 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +5 more	GBenign
Select item 342129	NM_005138.3(SCO2):c.-51C>T	LOC130067861, SCO2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 342128	NM_005138.3(SCO2):c.4C>G (p.Leu2Val)	NCAPH2, SCO2 (L2V)	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 342127	NM_005138.3(SCO2):c.162C>T (p.Gly54=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 342124	NM_005138.3(SCO2):c.276A>G (p.Glu92=)	NCAPH2, SCO2	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 342123	NM_005138.3(SCO2):c.738G>C (p.Ser246=)	NCAPH2, SCO2	Single nucleotide variant (synonymous variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 139081	NM_005138.3(SCO2):c.-18G>A	LOC130067861, TYMP +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +5 more	GBenign
Select item 137876	NM_001953.5(TYMP):c.1284T>A (p.Gly428=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more	GBenign
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 5685	NM_005138.3(SCO2):c.107G>A (p.Trp36Ter)	NCAPH2, SCO2 (W36*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GPathogenic
Select item 5684	NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr)	NCAPH2, SCO2 (C133Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GPathogenic
Select item 5683	NM_005138.3(SCO2):c.179_188dup (p.Ile63fs)	NCAPH2, SCO2 (I63fs)	Duplication (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GPathogenic
Select item 5682	NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)	NCAPH2, SCO2 (R90*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 5680	NM_005138.3(SCO2):c.511C>T (p.Arg171Trp)	NCAPH2, SCO2 (R171W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 5679	NM_005138.3(SCO2):c.674C>T (p.Ser225Phe)	NCAPH2, SCO2 (S225F)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 77