"Baylor Genetics"[submitter] AND "LOC130067864"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 223022	NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)	LOC130067864, TYMP (T92N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1456105	NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	LOC130067864, TYMP (R79*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16662	NM_001953.5(TYMP):c.215-1G>C	LOC130067864, TYMP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic

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