"BAG3-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239789	NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)	BAG3 (S56C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1793095	NM_004281.4(BAG3):c.255G>T (p.Val85=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +3 more	GLikely benign
Select item 539164	NM_004281.4(BAG3):c.372T>G (p.Thr124=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +2 more	GLikely benign
Select item 298955	NM_004281.4(BAG3):c.381A>T (p.Ala127=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +4 more	GConflicting classifications of pathogenicity
Select item 298956	NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)	BAG3 (R139W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GConflicting classifications of pathogenicity
Select item 971845	NM_004281.4(BAG3):c.470C>T (p.Ala157Val)	BAG3 (A157V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GConflicting classifications of pathogenicity
Select item 195212	NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)	BAG3 (P163S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +6 more	GConflicting classifications of pathogenicity
Select item 471801	NM_004281.4(BAG3):c.520C>T (p.Pro174Ser)	BAG3 (P174S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GUncertain significance
Select item 2633727	NM_004281.4(BAG3):c.550T>G (p.Ser184Ala)	BAG3 (S184A)	Single nucleotide variant (missense variant)	BAG3-related condition +2 more	GUncertain significance
Select item 239790	NM_004281.4(BAG3):c.616A>C (p.Ile206Leu)	BAG3 (I206L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +6 more	GConflicting classifications of pathogenicity
Select item 657299	NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)	BAG3 (P209S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GPathogenic/Likely pathogenic
Select item 471804	NM_004281.4(BAG3):c.636C>T (p.His212=)	BAG3	Single nucleotide variant (synonymous variant)	BAG3-related condition +4 more	GLikely benign
Select item 178008	NM_004281.4(BAG3):c.645C>T (p.Asn215=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +6 more	GLikely benign
Select item 227187	NM_004281.4(BAG3):c.705G>A (p.Ala235=)	BAG3	Single nucleotide variant (synonymous variant)	BAG3-related condition +5 more	GLikely benign
Select item 44790	NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)	BAG3 (S274L)	Single nucleotide variant (missense variant)	BAG3-related condition +5 more	GConflicting classifications of pathogenicity
Select item 201675	NM_004281.4(BAG3):c.855G>A (p.Thr285=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +6 more	GConflicting classifications of pathogenicity
Select item 44791	NM_004281.4(BAG3):c.870C>G (p.Pro290=)	BAG3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 201676	NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)	BAG3 (D300N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +6 more	GBenign/Likely benign
Select item 2575034	NM_004281.4(BAG3):c.1169T>G (p.Val390Gly)	BAG3 (V390G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GUncertain significance
Select item 698829	NM_004281.4(BAG3):c.1281C>T (p.Ala427=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 3030219	NM_004281.4(BAG3):c.1327G>A (p.Glu443Lys)	BAG3 (E443K)	Single nucleotide variant (missense variant)	BAG3-related condition	GUncertain significance
Select item 2630792	NM_004281.4(BAG3):c.1331G>A (p.Gly444Asp)	BAG3 (G444D)	Single nucleotide variant (missense variant)	BAG3-related condition	GUncertain significance
Select item 264169	NM_004281.4(BAG3):c.1362C>T (p.Ile454=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 192113	NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)	BAG3 (A479V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +5 more	GConflicting classifications of pathogenicity
Select item 515906	NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)	BAG3 (G483S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25