Related gene-specific medical variations for Gene (Select 9531) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688661	NM_004281.4(BAG3):c.787G>A (p.Ala263Thr)	BAG3 (A263T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439470	NM_004281.4(BAG3):c.482A>G (p.Gln161Arg)	BAG3 (Q161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439468	NM_004281.4(BAG3):c.427G>A (p.Glu143Lys)	BAG3 (E143K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439466	NM_004281.4(BAG3):c.52G>A (p.Asp18Asn)	BAG3 (D18N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987488	NM_004281.4(BAG3):c.889_890del (p.Thr297fs)	BAG3 (T297fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 987117	NM_004281.4(BAG3):c.715G>T (p.Glu239Ter)	BAG3 (E239*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 638010	NM_004281.4(BAG3):c.1418dup (p.Ala474fs)	BAG3 (A474fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH	GLikely pathogenic
Select item 636515	NM_004281.4(BAG3):c.339del (p.Tyr114fs)	BAG3 (Y114fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

ClinVar