"Ambry Genetics"[submitter] AND "LOC124849291"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2533535	NM_015409.5(EP400):c.5188G>A (p.Val1730Ile)	EP400, LOC124849291 (V1730I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546235	NM_015409.5(EP400):c.5238G>T (p.Arg1746Ser)	EP400, LOC124849291 (R1746S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307334	NM_015409.5(EP400):c.5267G>A (p.Arg1756His)	EP400, LOC124849291 (R1756H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214435	NM_015409.5(EP400):c.5270G>A (p.Arg1757His)	EP400, LOC124849291 (R1757H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275616	NM_015409.5(EP400):c.5287C>T (p.Pro1763Ser)	EP400, LOC124849291 (P1763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591652	NM_015409.5(EP400):c.5339C>T (p.Thr1780Met)	EP400, LOC124849291 (T1780M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324926	NM_015409.5(EP400):c.5368G>A (p.Asp1790Asn)	EP400, LOC124849291 (D1790N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089317	NM_015409.5(EP400):c.5369A>G (p.Asp1790Gly)	EP400, LOC124849291 (D1790G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar