"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC130067862"[ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1957273	NM_001953.5(TYMP):c.1399T>C (p.Phe467Leu)	LOC130067862, SCO2 +1 more (F472L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1163689	NM_001953.5(TYMP):c.1301-2_1305del	LOC130067862, SCO2 +1 more	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
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 1163690	NM_001953.5(TYMP):c.1253G>C (p.Gly418Ala)	LOC130067862, SCO2 +1 more (G418A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 559211	NM_001953.5(TYMP):c.1180G>T (p.Ala394Ser)	LOC130067862, SCO2 +1 more (A399S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 137874	NM_001953.5(TYMP):c.1074A>G (p.Arg358=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 3380733	NM_001953.5(TYMP):c.1063G>A (p.Gly355Ser)	SCO2, TYMP +1 more (G355S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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