"Ambry Genetics"[submitter] AND "BCAS3-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2318948	NM_017679.5(BCAS3):c.1720A>G (p.Arg574Gly)	BCAS3, BCAS3-AS1 (R589G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515581	NM_017679.5(BCAS3):c.1798A>G (p.Ile600Val)	BCAS3, BCAS3-AS1 (I600V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555722	NM_017679.5(BCAS3):c.1880C>G (p.Thr627Arg)	BCAS3, BCAS3-AS1 (T627R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273124	NM_017679.5(BCAS3):c.1907G>T (p.Arg636Leu)	BCAS3, BCAS3-AS1 (R636L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286361	NM_017679.5(BCAS3):c.1924G>A (p.Val642Ile)	BCAS3, BCAS3-AS1 (V687I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323968	NM_017679.5(BCAS3):c.1994A>G (p.Asp665Gly)	BCAS3, BCAS3-AS1 (D665G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518117	NM_017679.5(BCAS3):c.2165G>A (p.Arg722His)	BCAS3, BCAS3-AS1 (R722H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246576	NM_017679.5(BCAS3):c.2191T>A (p.Phe731Ile)	BCAS3, BCAS3-AS1 (F761I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296628	NM_017679.5(BCAS3):c.2261G>A (p.Gly754Asp)	BCAS3, BCAS3-AS1 (G754D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376344	NM_017679.5(BCAS3):c.2273C>T (p.Thr758Met)	BCAS3, BCAS3-AS1 (T788M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623284	NM_017679.5(BCAS3):c.2386G>C (p.Asp796His)	BCAS3, BCAS3-AS1 (D811H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance