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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2249299	NM_001300942.2(EMSY):c.178A>G (p.Thr60Ala)	EMSY (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232861	NM_001300942.2(EMSY):c.853A>G (p.Thr285Ala)	EMSY (T271A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408837	NM_001300942.2(EMSY):c.1342C>A (p.Gln448Lys)	EMSY (Q434K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249827	NM_001300942.2(EMSY):c.2192A>G (p.Tyr731Cys)	EMSY (Y716C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346468	NM_001300942.2(EMSY):c.3172G>C (p.Val1058Leu)	EMSY (V1044L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245953	NM_001300942.2(EMSY):c.3268C>A (p.Gln1090Lys)	EMSY (Q1076K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385006	NM_001300942.2(EMSY):c.3686C>T (p.Pro1229Leu)	EMSY (P1214L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar