"Genome-Nilou Lab"[submitter] AND "TYMP"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 130693	NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)	LOC130067862, SCO2 +1 more (S471L +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign
Select item 137878	NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)	LOC130067862, SCO2 +1 more (A465T +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign/Likely benign
Select item 130694	NM_001953.5(TYMP):c.972C>T (p.Ala324=)	TYMP, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign
Select item 1185199	NM_001953.5(TYMP):c.766-53C>T	TYMP	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1	GBenign
Select item 671618	NM_001953.5(TYMP):c.516+27A>G	TYMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign