"Ambry Genetics"[submitter] AND "EZH1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2339995	NM_001991.5(EZH1):c.1285T>C (p.Ser429Pro)	EZH1 (S420P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403121	NM_001991.5(EZH1):c.584A>G (p.Asn195Ser)	EZH1 (N155S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525616	NM_001991.5(EZH1):c.541G>A (p.Asp181Asn)	EZH1 (D141N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284529	NM_001991.5(EZH1):c.380C>T (p.Thr127Met)	EZH1 (T87M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531017	NM_001991.5(EZH1):c.269C>T (p.Pro90Leu)	EZH1 (P96L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377229	NM_001991.5(EZH1):c.211A>G (p.Met71Val)	EZH1 (M77V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261664	NM_001991.5(EZH1):c.26C>T (p.Ser9Phe)	EZH1 (S15F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar