"Ambry Genetics"[submitter] AND "LOC129999675"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134803	NM_170606.3(KMT2C):c.11570C>T (p.Thr3857Met)	LOC129999675, KMT2C (T3857M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2272390	NM_170606.3(KMT2C):c.11569A>T (p.Thr3857Ser)	KMT2C, LOC129999675 (T3857S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance