"Revvity Omics, Revvity"[submitter] AND "TYMP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 223062	NM_001953.5(TYMP):c.928+1G>A	LOC130067862, TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 16653	NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	TYMP (E289A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic
Select item 1325321	NM_001953.5(TYMP):c.809T>C (p.Leu270Pro)	TYMP (L270P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 223004	NM_001953.5(TYMP):c.647C>T (p.Ala216Val)	TYMP (A216V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 16663	NM_001953.5(TYMP):c.622G>A (p.Val208Met)	TYMP (V208M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16655	NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	TYMP (G145R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 223019	NM_001953.5(TYMP):c.228G>A (p.Met76Ile)	LOC130067864, TYMP (M76I)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 646061	NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)	TYMP	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar