"Ambry Genetics"[submitter] AND "MED8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549019	NM_201542.5(MED8):c.*558A>G	MED8 (E291G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553150	NM_201542.5(MED8):c.730G>A (p.Ala244Thr)	MED8 (A244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288821	NM_201542.5(MED8):c.686C>T (p.Pro229Leu)	MED8 (P140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328212	NM_201542.5(MED8):c.685C>T (p.Pro229Ser)	MED8 (P140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125087	NM_201542.5(MED8):c.419T>C (p.Ile140Thr)	MED8 (I140T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306247	NM_201542.5(MED8):c.388C>T (p.Arg130Cys)	MED8 (R41C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125086	NM_201542.5(MED8):c.214C>T (p.Arg72Cys)	MED8 (R72C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212242	NM_201542.5(MED8):c.73T>C (p.Ser25Pro)	LOC129930378, MED8 (S25P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar