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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360400	NM_004281.4(BAG3):c.377C>A (p.Ala126Glu)	BAG3 (A126E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359367	NM_004281.4(BAG3):c.1582G>A (p.Gly528Ser)	BAG3 (G528S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359212	NM_004281.4(BAG3):c.1119T>A (p.Cys373Ter)	BAG3 (C373*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH	GLikely pathogenic
Select item 3358945	NM_004281.4(BAG3):c.508-8T>A	BAG3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1HH	GUncertain significance
Select item 3244902	NC_000010.10:g.(?_121429343)_(121432188_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3244901	NC_000010.10:g.(?_121411188)_(121432188_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3244900	NC_000010.10:g.(?_121435956)_(121436794_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3244899	NC_000010.10:g.(?_121411188)_(121436794_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3244898	NC_000010.10:g.(?_121429343)_(121436794_?)del	BAG3	Deletion	Dilated cardiomyopathy 1HH +1 more	GPathogenic
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