"Ambry Genetics"[submitter] AND "LOC130001652"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2470058	NM_004323.6(BAG1):c.146C>T (p.Ala49Val)	BAG1, LOC130001652 (A49V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2276052	NM_004323.6(BAG1):c.146C>G (p.Ala49Gly)	BAG1, LOC130001652 (A49G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238478	NM_004323.6(BAG1):c.134G>T (p.Gly45Val)	BAG1, LOC130001652 (G45V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465033	NM_004323.6(BAG1):c.131C>T (p.Ser44Phe)	BAG1, LOC130001652 (S44F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393791	NM_004323.6(BAG1):c.73C>T (p.Arg25Trp)	BAG1, LOC130001652 (R25W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356886	NM_004323.6(BAG1):c.46C>T (p.Arg16Trp)	BAG1, LOC130001652 (R16W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292146	NM_004323.6(BAG1):c.14G>T (p.Gly5Val)	BAG1, LOC130001652 (G5V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar