"GeneDx"[submitter] AND "BAG3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 671389	NM_004281.3(BAG3):c.-543T>C	BAG3	Single nucleotide variant	not provided	GBenign
Select item 671234	NM_004281.3(BAG3):c.-518C>T	BAG3	Single nucleotide variant	not provided	GBenign
Select item 671390	NM_004281.3(BAG3):c.-359C>T	BAG3	Single nucleotide variant	not provided	GBenign
Select item 298951	NM_004281.4(BAG3):c.-284G>C	BAG3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1190806	NM_004281.4(BAG3):c.-208C>T	BAG3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 201678	NM_004281.4(BAG3):c.-50C>T	BAG3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 510492	NM_004281.4(BAG3):c.-18G>A	BAG3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136494	NM_004281.4(BAG3):c.-17G>A	BAG3	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 373252	NM_004281.4(BAG3):c.13A>G (p.Thr5Ala)	BAG3 (T5A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 620522	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter)	BAG3 (S7*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 640933	NM_004281.4(BAG3):c.46A>G (p.Asn16Asp)	BAG3 (N16D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 966196	NM_004281.4(BAG3):c.72dup (p.Gly25fs)	BAG3 (G25fs)	Duplication (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 279697	NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)	BAG3 (P23S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 377548	NM_004281.4(BAG3):c.96G>T (p.Pro32=)	BAG3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 390438	NM_004281.4(BAG3):c.105C>G (p.Gly35=)	BAG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 841061	NM_004281.4(BAG3):c.109C>T (p.Pro37Ser)	BAG3 (P37S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 424122	NM_004281.4(BAG3):c.112TTC[1] (p.Phe39del)	BAG3 (F39del)	Microsatellite (inframe_deletion)	Myofibrillar myopathy 6 +2 more	GUncertain significance
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 1097948	NM_004281.4(BAG3):c.138C>T (p.Thr46=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +3 more	GLikely benign
Select item 201685	NM_004281.4(BAG3):c.142A>C (p.Thr48Pro)	BAG3 (T48P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 1411710	NM_004281.4(BAG3):c.164C>T (p.Pro55Leu)	BAG3 (P55L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 239789	NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)	BAG3 (S56C)	Single nucleotide variant (missense variant)	BAG3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 539152	NM_004281.4(BAG3):c.173G>T (p.Gly58Val)	BAG3 (G58V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 259262	NM_004281.4(BAG3):c.180+43C>T	BAG3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 669419	NM_004281.4(BAG3):c.180+264G>A	BAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683251	NM_004281.4(BAG3):c.180+269C>G	BAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671337	NM_004281.4(BAG3):c.181-291A>G	BAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672476	NM_004281.4(BAG3):c.181-107A>G	BAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509724	NM_004281.4(BAG3):c.181-10T>C	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +2 more	GLikely benign
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 specified +6 more	GBenign
Select item 430505	NM_004281.4(BAG3):c.191C>T (p.Ser64Phe)	BAG3 (S64F)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 418720	NM_004281.4(BAG3):c.206dup (p.Ser70fs)	BAG3 (S70fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +2 more	GPathogenic
Select item 385175	NM_004281.4(BAG3):c.204C>G (p.Gly68=)	BAG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 509096	NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)	BAG3 (R71L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44780	NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)	BAG3 (R71Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	not provided +3 more	GBenign/Likely benign
Select item 44782	NM_004281.4(BAG3):c.249C>A (p.His83Gln)	BAG3 (H83Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2580402	NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)	BAG3 (Y86*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 504333	NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)	BAG3 (Y86*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +2 more	GPathogenic/Likely pathogenic
Select item 2928125	NM_004281.4(BAG3):c.262C>G (p.Gln88Glu)	BAG3 (Q88E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 515609	NM_004281.4(BAG3):c.264G>A (p.Gln88=)	BAG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 372723	NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)	BAG3 (R90*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
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 3342402	NM_004281.4(BAG3):c.284C>A (p.Pro95His)	BAG3 (P95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579788	NM_004281.4(BAG3):c.293T>G (p.Val98Gly)	BAG3 (V98G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958697	NM_004281.4(BAG3):c.306C>T (p.Gly102=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 577609	NM_004281.4(BAG3):c.316C>T (p.Arg106Trp)	BAG3 (R106W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 429783	NM_004281.4(BAG3):c.320A>C (p.Gln107Pro)	BAG3 (Q107P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305591	NM_004281.4(BAG3):c.329C>T (p.Pro110Leu)	BAG3 (P110L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 422326	NM_004281.4(BAG3):c.350dup (p.Gly118fs)	BAG3 (G118fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1324094	NM_004281.4(BAG3):c.361C>T (p.Arg121Ter)	BAG3 (R121*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 298955	NM_004281.4(BAG3):c.381A>T (p.Ala127=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +3 more	GConflicting classifications of pathogenicity
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 511720	NM_004281.4(BAG3):c.387G>A (p.Ala129=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +3 more	GLikely benign
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 298956	NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)	BAG3 (R139W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GConflicting classifications of pathogenicity
Select item 451747	NM_004281.4(BAG3):c.418G>A (p.Gly140Ser)	BAG3 (G140S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GUncertain significance
Select item 680406	NM_004281.4(BAG3):c.432C>A (p.Thr144=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 652124	NM_004281.4(BAG3):c.451_452inv (p.Cys151His)	BAG3 (C151H)	Inversion (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 44783	NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)	BAG3 (C151R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 389437	NM_004281.4(BAG3):c.460G>A (p.Val154Met)	BAG3 (V154M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GLikely benign
Select item 385215	NM_004281.4(BAG3):c.460G>C (p.Val154Leu)	BAG3 (V154L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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, Dominant +6 more	GBenign/Likely benign
Select item 681110	NM_004281.4(BAG3):c.468G>A (p.Ala156=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 512733	NM_004281.4(BAG3):c.480C>T (p.Ala160=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +2 more	GLikely benign
Select item 195212	NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)	BAG3 (P163S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +6 more	GConflicting classifications of pathogenicity
Select item 389951	NM_004281.4(BAG3):c.498C>T (p.His166=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1257661	NM_004281.4(BAG3):c.507+17C>T	BAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136492	NM_004281.4(BAG3):c.507+18T>C	BAG3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 676077	NM_004281.4(BAG3):c.507+58C>T	BAG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282547	NM_004281.4(BAG3):c.507+73C>G	BAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263108	NM_004281.4(BAG3):c.507+153A>G	BAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429486	NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)	BAG3 (R170Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GConflicting classifications of pathogenicity
Select item 201680	NM_004281.4(BAG3):c.512C>T (p.Ser171Phe)	BAG3 (S171F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 471801	NM_004281.4(BAG3):c.520C>T (p.Pro174Ser)	BAG3 (P174S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1403403	NM_004281.4(BAG3):c.534C>G (p.Asp178Glu)	BAG3 (D178E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 136493	NM_004281.4(BAG3):c.549C>G (p.Ser183=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +5 more	GConflicting classifications of pathogenicity
Select item 180282	NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)	BAG3 (S185L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GConflicting classifications of pathogenicity
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 389542	NM_004281.4(BAG3):c.569C>T (p.Ser190Phe)	BAG3 (S190F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 471803	NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)	BAG3 (G192S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 422311	NM_004281.4(BAG3):c.580del (p.Ser194fs)	BAG3 (S194fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1099652	NM_004281.4(BAG3):c.585C>T (p.Ser195=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +2 more	GLikely benign
Select item 2950034	NM_004281.4(BAG3):c.589G>A (p.Gly197Ser)	BAG3 (G197S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 44786	NM_004281.4(BAG3):c.606G>T (p.Pro202=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 391763	NM_004281.4(BAG3):c.608G>A (p.Arg203Gln)	BAG3 (R203Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GUncertain significance

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