"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162766	NM_004281.4(BAG3):c.-4C>T	BAG3	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 6 +4 more	GConflicting classifications of pathogenicity
Select item 136495	NM_004281.4(BAG3):c.25A>G (p.Met9Val)	BAG3 (M9V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +4 more	GBenign/Likely benign
Select item 162767	NM_004281.4(BAG3):c.49G>C (p.Gly17Arg)	BAG3 (G17R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GUncertain significance
Select item 162768	NM_004281.4(BAG3):c.55C>A (p.Arg19Ser)	BAG3 (R19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162769	NM_004281.4(BAG3):c.72del (p.Gly25fs)	BAG3 (G25fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +2 more	GPathogenic/Likely pathogenic
Select item 505229	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3 (W26*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +4 more	GPathogenic/Likely pathogenic
Select item 180009	NM_004281.4(BAG3):c.100_107del (p.Thr34fs)	BAG3 (T34fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 44775	NM_004281.4(BAG3):c.111C>T (p.Pro37=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +3 more	GLikely benign
Select item 179530	NM_004281.4(BAG3):c.114C>T (p.Phe38=)	BAG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 179541	NM_004281.4(BAG3):c.180+13C>T	BAG3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1HH +2 more	GLikely benign
Select item 44779	NM_004281.4(BAG3):c.181-15C>T	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +2 more	GConflicting classifications of pathogenicity
Select item 136491	NM_004281.4(BAG3):c.181-9T>A	BAG3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1HH +3 more	GBenign
Select item 178006	NM_004281.4(BAG3):c.187C>G (p.Pro63Ala)	BAG3 (P63A)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 228456	NM_004281.4(BAG3):c.200A>G (p.Asn67Ser)	BAG3 (N67S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44780	NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)	BAG3 (R71Q)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 162774	NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)	BAG3 (P77L)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 44781	NM_004281.4(BAG3):c.231G>A (p.Pro77=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +3 more	GBenign/Likely benign
Select item 44782	NM_004281.4(BAG3):c.249C>A (p.His83Gln)	BAG3 (H83Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 178007	NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)	BAG3 (I94F)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 162775	NM_004281.4(BAG3):c.283C>G (p.Pro95Ala)	BAG3 (P95A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 643815	NM_004281.4(BAG3):c.317G>A (p.Arg106Gln)	BAG3 (R106Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 228455	NM_004281.4(BAG3):c.362G>A (p.Arg121Gln)	BAG3 (R121Q)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 30397	NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	BAG3 (R123*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 228457	NM_004281.4(BAG3):c.386C>T (p.Ala129Val)	BAG3 (A129V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +4 more	GConflicting classifications of pathogenicity
Select item 162776	NM_004281.4(BAG3):c.400T>A (p.Ser134Thr)	BAG3 (S134T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GConflicting classifications of pathogenicity
Select item 44783	NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)	BAG3 (C151R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GBenign/Likely benign
Select item 44784	NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)	BAG3 (A155T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +6 more	GConflicting classifications of pathogenicity
Select item 227186	NM_004281.4(BAG3):c.465A>G (p.Ala155=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 44785	NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)	BAG3	Microsatellite (inframe_insertion)	Myofibrillar myopathy 6 +6 more	GBenign/Likely benign
Select item 179298	NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)	BAG3 (A156G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +4 more	GConflicting classifications of pathogenicity
Select item 162777	NM_004281.4(BAG3):c.471G>A (p.Ala157=)	BAG3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 136493	NM_004281.4(BAG3):c.549C>G (p.Ser183=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44786	NM_004281.4(BAG3):c.606G>T (p.Pro202=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +3 more	GBenign/Likely benign
Select item 178008	NM_004281.4(BAG3):c.645C>T (p.Asn215=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 179009	NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)	BAG3 (R218Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +5 more	GConflicting classifications of pathogenicity
Select item 228458	NM_004281.4(BAG3):c.695A>T (p.His232Leu)	BAG3 (H232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227187	NM_004281.4(BAG3):c.705G>A (p.Ala235=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 228246	NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)	BAG3 (Q244*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 162778	NM_004281.4(BAG3):c.771C>T (p.Pro257=)	BAG3	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 39466	NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)	BAG3 (R258W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +5 more	GBenign/Likely benign
Select item 162779	NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)	BAG3 (R261W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GConflicting classifications of pathogenicity
Select item 44789	NM_004281.4(BAG3):c.785C>T (p.Ala262Val)	BAG3 (A262V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44790	NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)	BAG3 (S274L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 228459	NM_004281.4(BAG3):c.826C>T (p.Arg276Trp)	BAG3 (R276W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 44791	NM_004281.4(BAG3):c.870C>G (p.Pro290=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +4 more	GBenign/Likely benign
Select item 44792	NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)	BAG3 (S291L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +4 more	GConflicting classifications of pathogenicity
Select item 162780	NM_004281.4(BAG3):c.888C>T (p.His296=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 162781	NM_004281.4(BAG3):c.910-10C>G	BAG3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1HH +2 more	GConflicting classifications of pathogenicity
Select item 228322	NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)	BAG3 (R309*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +6 more	GPathogenic
Select item 44774	NM_004281.4(BAG3):c.1002T>G (p.Pro334=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 228453	NM_004281.4(BAG3):c.1015A>G (p.Ile339Val)	BAG3 (I339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 179764	NM_004281.4(BAG3):c.1067del (p.Pro356fs)	BAG3 (P356fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +2 more	GPathogenic/Likely pathogenic
Select item 228454	NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr)	BAG3 (C373Y)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 162782	NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)	BAG3 (P380S)	Single nucleotide variant (missense variant)	Atrial fibrillation +6 more	GBenign/Likely benign
Select item 162783	NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile)	BAG3 (T406I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GUncertain significance
Select item 44776	NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu)	BAG3 (P407L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GBenign
Select item 162784	NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)	BAG3 (E414K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +5 more	GConflicting classifications of pathogenicity
Select item 162785	NM_004281.4(BAG3):c.1274T>A (p.Val425Glu)	BAG3 (V425E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44777	NM_004281.4(BAG3):c.1296A>G (p.Val432=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +4 more	GBenign
Select item 179333	NM_004281.4(BAG3):c.1344C>T (p.Asp448=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +3 more	GLikely benign
Select item 44778	NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)	BAG3 (E455K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 179626	NM_004281.4(BAG3):c.1422C>T (p.Ala474=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +3 more	GLikely benign
Select item 178009	NM_004281.4(BAG3):c.1587C>T (p.Ala529=)	BAG3	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 162787	NM_004281.4(BAG3):c.1588G>A (p.Val530Met)	BAG3 (V530M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 162788	NM_004281.4(BAG3):c.1674G>A (p.Ala558=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +4 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: 65