"Ambry Genetics"[submitter] AND "POLR2E"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216534	NM_002695.5(POLR2E):c.575A>T (p.Lys192Met)	POLR2E (K192M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216533	NM_002695.5(POLR2E):c.574A>G (p.Lys192Glu)	POLR2E (K192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216532	NM_002695.5(POLR2E):c.541C>T (p.Arg181Cys)	POLR2E (R88C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297547	NM_002695.5(POLR2E):c.507G>C (p.Gln169His)	POLR2E (Q169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489438	NM_002695.5(POLR2E):c.404T>C (p.Leu135Pro)	POLR2E (L135P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216531	NM_002695.5(POLR2E):c.328A>G (p.Met110Val)	POLR2E (M17V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537391	NM_002695.5(POLR2E):c.229C>G (p.Pro77Ala)	POLR2E (P77A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216530	NM_002695.5(POLR2E):c.155G>A (p.Arg52Gln)	POLR2E (R52Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367990	NM_002695.5(POLR2E):c.146G>A (p.Ser49Asn)	POLR2E (S49N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614083	NM_002695.5(POLR2E):c.58C>T (p.Leu20=)	POLR2E	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign