"PreventionGenetics, part of Exact Sciences"[submitter] AND "TPK1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045548	NM_022445.4(TPK1):c.613+17432G>A	TPK1	Single nucleotide variant (intron variant)	TPK1-related disorder	GLikely benign
Select item 3033734	NM_022445.4(TPK1):c.613+17424C>T	TPK1 (A239V)	Single nucleotide variant (missense variant +2 more)	TPK1-related disorder	GBenign
Select item 3041959	NM_022445.4(TPK1):c.613+17398T>A	TPK1	Single nucleotide variant (synonymous variant +2 more)	TPK1-related disorder	GLikely benign
Select item 3054039	NM_022445.4(TPK1):c.185+15109C>T	TPK1	Single nucleotide variant (synonymous variant +2 more)	TPK1-related disorder	GLikely benign
Select item 3041849	NM_022445.4(TPK1):c.185+15071T>C	TPK1	Single nucleotide variant (synonymous variant +2 more)	TPK1-related disorder	GLikely benign
Select item 516761	NM_022445.4(TPK1):c.135C>T (p.Ala45=)	TPK1	Single nucleotide variant (synonymous variant +3 more)	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +2 more	GLikely benign
Select item 137694	NM_022445.4(TPK1):c.98G>A (p.Arg33His)	TPK1 (R33H)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign

ClinVar