"Ambry Genetics"[submitter] AND "LOC129993145"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2291205	NM_003601.4(SMARCA5):c.163G>A (p.Asp55Asn)	LOC129993145, SMARCA5 +1 more (D55N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409961	NM_003601.4(SMARCA5):c.166G>T (p.Ala56Ser)	LOC129993145, SMARCA5 +1 more (A56S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2205920	NM_003601.4(SMARCA5):c.167C>A (p.Ala56Asp)	LOC129993145, SMARCA5 +1 more (A56D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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