C4551995[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553052	NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)	SCO2, TYMP (Q481* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	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 554264	NM_001953.5(TYMP):c.1308dup (p.Trp437fs)	LOC130067862, SCO2 +1 more (W437fs +1 more)	Duplication (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 223069	NM_001953.5(TYMP):c.1300+1G>A	TYMP, LOC130067862 +1 more	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 215344	NM_001953.5(TYMP):c.1159+5G>A	SCO2, TYMP +1 more	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GUncertain significance
Select item 215324	NM_001953.4(TYMP):c.929-6_929-3del	LOC130067862, SCO2 +1 more	Microsatellite (intron variant)	Mitochondrial DNA depletion syndrome 1 +4 more	GBenign/Likely benign
Select item 215332	NM_001953.5(TYMP):c.437G>A (p.Arg146His)	TYMP (R146H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16662	NM_001953.5(TYMP):c.215-1G>C	LOC130067864, TYMP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic