ClinVar for MedGen (Select 332448) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1525448	NM_018444.4(PDP1):c.202G>A (p.Gly68Arg)	PDP1 (G93R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1236806	NM_018444.4(PDP1):c.*36T>C	PDP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1036385	NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)	LOC129936949, PDHB (R13Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 982568	NM_018444.4(PDP1):c.500dup (p.Leu167fs)	PDP1 (L167fs +1 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase phosphatase deficiency	GPathogenic
Select item 953162	NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)	PDP1 (K477R +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase phosphatase deficiency +1 more	GUncertain significance
Select item 947661	NM_000925.4(PDHB):c.782T>C (p.Val261Ala)	PDHB (V243A +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 722700	NM_000925.4(PDHB):c.501G>T (p.Gly167=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 559256	NM_000925.4(PDHB):c.435A>G (p.Arg145=)	PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GBenign
Select item 369617	NM_018444.3(PDP1):c.-273T>A	LOC130000734, PDP1	Single nucleotide variant	Pyruvate dehydrogenase phosphatase deficiency +1 more	GBenign
Select item 363968	NM_018444.4(PDP1):c.1649_1650insG	PDP1	Insertion (3 prime UTR variant)	Pyruvate dehydrogenase phosphatase deficiency	GUncertain significance
Select item 363967	NM_018444.4(PDP1):c.*1661del	PDP1	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 363956	NM_018444.4(PDP1):c.*898CTT[1]	PDP1	Microsatellite (3 prime UTR variant)	Pyruvate dehydrogenase phosphatase deficiency	GUncertain significance
Select item 363953	NM_018444.4(PDP1):c.*724del	PDP1	Deletion (3 prime UTR variant)	Pyruvate dehydrogenase phosphatase deficiency	GUncertain significance
Select item 129880	NM_000925.4(PDHB):c.438G>A (p.Gly146=)	PDHB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 4664	NM_018444.4(PDP1):c.277G>T (p.Glu93Ter)	PDP1 (E93* +1 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase phosphatase deficiency	GPathogenic
Select item 4663	NM_018444.4(PDP1):c.851_853del (p.Leu284del)	PDP1 (L284del +1 more)	Deletion (inframe_deletion)	Pyruvate dehydrogenase phosphatase deficiency	GPathogenic