"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BAG3"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879538	NM_004281.4(BAG3):c.-319C>T	BAG3	Single nucleotide variant	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 877090	NM_004281.4(BAG3):c.-155C>G	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 162767	NM_004281.4(BAG3):c.49G>C (p.Gly17Arg)	BAG3 (G17R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GUncertain significance
Select item 279697	NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)	BAG3 (P23S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 505229	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3 (W26*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 410233	NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)	BAG3 (R45C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1433580	NM_004281.4(BAG3):c.155C>G (p.Pro52Arg)	BAG3 (P52R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 30396	NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)	BAG3 (R71W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 44781	NM_004281.4(BAG3):c.231G>A (p.Pro77=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 372723	NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)	BAG3 (R90*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +3 more	GPathogenic
Select item 410235	NM_004281.4(BAG3):c.289C>T (p.Pro97Ser)	BAG3 (P97S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 936352	NM_004281.4(BAG3):c.315C>G (p.Asn105Lys)	BAG3 (N105K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 180281	NM_004281.4(BAG3):c.322G>A (p.Val108Met)	BAG3 (V108M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 410241	NM_004281.4(BAG3):c.337G>A (p.Val113Ile)	BAG3 (V113I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 861032	NM_004281.4(BAG3):c.343C>T (p.Pro115Ser)	BAG3 (P115S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 30397	NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	BAG3 (R123*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +4 more	GPathogenic/Likely pathogenic
Select item 191606	NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)	BAG3 (R123Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 228457	NM_004281.4(BAG3):c.386C>T (p.Ala129Val)	BAG3 (A129V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1432954	NM_004281.4(BAG3):c.416G>A (p.Arg139Gln)	BAG3 (R139Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 652124	NM_004281.4(BAG3):c.451_452inv (p.Cys151His)	BAG3 (C151H)	Inversion (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 1299827	NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)	BAG3 (C151Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 955322	NM_004281.4(BAG3):c.485C>T (p.Pro162Leu)	BAG3 (P162L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
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 191607	NM_004281.4(BAG3):c.508C>T (p.Arg170Trp)	BAG3 (R170W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GUncertain significance
Select item 429486	NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)	BAG3 (R170Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 410240	NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del)	BAG3 (S185del)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 471802	NM_004281.4(BAG3):c.557C>T (p.Ala186Val)	BAG3 (A186V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 834325	NM_004281.4(BAG3):c.574G>T (p.Gly192Cys)	BAG3 (G192C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 471803	NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)	BAG3 (G192S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 539153	NM_004281.4(BAG3):c.578G>A (p.Arg193Lys)	BAG3 (R193K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 283564	NM_004281.4(BAG3):c.605C>T (p.Pro202Leu)	BAG3 (P202L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 44786	NM_004281.4(BAG3):c.606G>T (p.Pro202=)	BAG3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 39464	NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)	BAG3 (R218W)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 471805	NM_004281.4(BAG3):c.692C>T (p.Thr231Met)	BAG3 (T231M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 39466	NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)	BAG3 (R258W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +5 more	GBenign/Likely benign
Select item 423527	NM_004281.4(BAG3):c.836C>T (p.Ser279Leu)	BAG3 (S279L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 196379	NM_004281.4(BAG3):c.892G>A (p.Val298Met)	BAG3 (V298M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GConflicting classifications of pathogenicity
Select item 390349	NM_004281.4(BAG3):c.897C>T (p.Val299=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +4 more	GBenign/Likely benign
Select item 471806	NM_004281.4(BAG3):c.909+4C>T	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
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 471807	NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)	BAG3 (R309Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 410226	NM_004281.4(BAG3):c.968G>A (p.Ser323Asn)	BAG3 (S323N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 647437	NM_004281.4(BAG3):c.988C>T (p.Pro330Ser)	BAG3 (P330S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 191610	NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg)	BAG3 (P367R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 201677	NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)	BAG3 (S389N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1426110	NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly)	BAG3 (A401G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 410228	NM_004281.4(BAG3):c.1232_1234del (p.Gly411del)	BAG3 (G411del)	Deletion (inframe_deletion)	Myofibrillar myopathy 6 +3 more	GUncertain significance
Select item 1663979	NM_004281.4(BAG3):c.1239C>T (p.Ala413=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +2 more	GLikely benign
Select item 854079	NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly)	BAG3 (E436G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 574002	NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser)	BAG3 (A438S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	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 519166	NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)	BAG3 (E471K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GUncertain significance
Select item 1442376	NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln)	BAG3 (R473Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GConflicting classifications of pathogenicity
Select item 377550	NM_004281.4(BAG3):c.1503C>A (p.Val501=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 580192	NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)	BAG3 (Y508C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GConflicting classifications of pathogenicity
Select item 1495073	NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu)	BAG3 (D518E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GConflicting classifications of pathogenicity
Select item 571678	NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser)	BAG3 (P520S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 220969	NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly)	BAG3 (A529G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 298971	NM_004281.4(BAG3):c.*399G>T	BAG3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 298972	NM_004281.4(BAG3):c.*402T>C	BAG3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance

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Items: 62