"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573539	NM_005138.3(SCO2):c.773T>C (p.Met258Thr)	NCAPH2, SCO2 (M258T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 3063990	NM_005138.3(SCO2):c.289G>T (p.Ala97Ser)	SCO2, NCAPH2 (A97S)	Single nucleotide variant (missense variant +1 more)	not specified	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 553052	NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)	SCO2, TYMP (Q481* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GUncertain significance
Select item 223054	NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)	LOC130067862, SCO2 +1 more (G387D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2682604	NM_001953.5(TYMP):c.1135G>A (p.Glu379Lys)	LOC130067862, SCO2 +1 more (E379K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2138462	NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)	LOC130067862, SCO2 +1 more (L347P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 215324	NM_001953.4(TYMP):c.929-6_929-3del	LOC130067862, SCO2 +1 more	Microsatellite (intron variant)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign/Likely benign