9531[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
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 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 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 879538	NM_004281.4(BAG3):c.-319C>T	BAG3	Single nucleotide variant	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 417519	NC_000010.10:g.(?_121410882)_(121429689_?)dup	BAG3	Duplication	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 298947	NM_004281.4(BAG3):c.-294A>C	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH +2 more	GConflicting classifications of pathogenicity
Select item 298948	NM_004281.4(BAG3):c.-293T>A	BAG3	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 6 +2 more	GConflicting classifications of pathogenicity
Select item 298950	NM_004281.4(BAG3):c.-285C>T	BAG3	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 298949	NM_004281.4(BAG3):c.-285C>A	BAG3	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
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 298952	NM_004281.4(BAG3):c.-271C>T	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH +1 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 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 877091	NM_004281.4(BAG3):c.-128G>T	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 298953	NM_004281.4(BAG3):c.-95G>A	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH +2 more	GConflicting classifications of pathogenicity
Select item 2640879	NM_004281.4(BAG3):c.-90G>A	BAG3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 298954	NM_004281.4(BAG3):c.-87G>T	BAG3	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 877092	NM_004281.4(BAG3):c.-86G>A	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 201678	NM_004281.4(BAG3):c.-50C>T	BAG3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 539169	NC_000010.10:g.(?_121411168)_(121436814_?)dup	BAG3	Duplication	Myofibrillar myopathy 6 +1 more	GUncertain significance
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)	Myofibrillar myopathy 6 +3 more	GConflicting classifications of pathogenicity
Select item 162766	NM_004281.4(BAG3):c.-4C>T	BAG3	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1031400	NM_004281.4(BAG3):c.-2G>T	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH	GUncertain significance
Select item 1953036	NM_004281.4(BAG3):c.1A>C (p.Met1Leu)	BAG3 (M1L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 940210	NM_004281.4(BAG3):c.2T>G (p.Met1Arg)	BAG3 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1390809	NM_004281.4(BAG3):c.5G>A (p.Ser2Asn)	BAG3 (S2N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 2142517	NM_004281.4(BAG3):c.7G>A (p.Ala3Thr)	BAG3 (A3T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 878125	NM_004281.4(BAG3):c.7G>T (p.Ala3Ser)	BAG3 (A3S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 373252	NM_004281.4(BAG3):c.13A>G (p.Thr5Ala)	BAG3 (T5A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GConflicting classifications of pathogenicity
Select item 2567316	NM_004281.4(BAG3):c.14C>T (p.Thr5Ile)	BAG3 (T5I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1588999	NM_004281.4(BAG3):c.15C>G (p.Thr5=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2925509	NM_004281.4(BAG3):c.18C>G (p.His6Gln)	BAG3 (H6Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1784164	NM_004281.4(BAG3):c.19T>C (p.Ser7Pro)	BAG3 (S7P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2086877	NM_004281.4(BAG3):c.20C>T (p.Ser7Leu)	BAG3 (S7L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 620522	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter)	BAG3 (S7*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2938989	NM_004281.4(BAG3):c.21G>A (p.Ser7=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 1382933	NM_004281.4(BAG3):c.22C>T (p.Pro8Ser)	BAG3 (P8S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
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 2951921	NM_004281.4(BAG3):c.27G>C (p.Met9Ile)	BAG3 (M9I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1409128	NM_004281.4(BAG3):c.28A>G (p.Met10Val)	BAG3 (M10V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1797440	NM_004281.4(BAG3):c.29_35del (p.Met10fs)	BAG3 (M10fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1441462	NM_004281.4(BAG3):c.30G>T (p.Met10Ile)	BAG3 (M10I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 965510	NM_004281.4(BAG3):c.30G>A (p.Met10Ile)	BAG3 (M10I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2923442	NM_004281.4(BAG3):c.31C>A (p.Gln11Lys)	BAG3 (Q11K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1424392	NM_004281.4(BAG3):c.32A>T (p.Gln11Leu)	BAG3 (Q11L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2953214	NM_004281.4(BAG3):c.33G>A (p.Gln11=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2948391	NM_004281.4(BAG3):c.36_40del (p.Ala13fs)	BAG3 (A13fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 949690	NM_004281.4(BAG3):c.34G>A (p.Val12Met)	BAG3 (V12M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 1452208	NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)	BAG3 (S14fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1102088	NM_004281.4(BAG3):c.36G>A (p.Val12=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2929558	NM_004281.4(BAG3):c.37G>C (p.Ala13Pro)	BAG3 (A13P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2932478	NM_004281.4(BAG3):c.38C>T (p.Ala13Val)	BAG3 (A13V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1385311	NM_004281.4(BAG3):c.41C>T (p.Ser14Phe)	BAG3 (S14F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 640933	NM_004281.4(BAG3):c.46A>G (p.Asn16Asp)	BAG3 (N16D)	Single nucleotide variant (missense variant)	not provided +3 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 1389481	NM_004281.4(BAG3):c.50G>C (p.Gly17Ala)	BAG3 (G17A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	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 1642248	NM_004281.4(BAG3):c.54C>T (p.Asp18=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 222509	NM_004281.4(BAG3):c.55C>T (p.Arg19Cys)	BAG3 (R19C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 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 943879	NM_004281.4(BAG3):c.58G>A (p.Asp20Asn)	BAG3 (D20N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2193034	NM_004281.4(BAG3):c.61C>G (p.Pro21Ala)	BAG3 (P21A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1432332	NM_004281.4(BAG3):c.62C>G (p.Pro21Arg)	BAG3 (P21R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 966196	NM_004281.4(BAG3):c.72dup (p.Gly25fs)	BAG3 (G25fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 162769	NM_004281.4(BAG3):c.72del (p.Gly25fs)	BAG3 (G25fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +2 more	GPathogenic/Likely pathogenic
Select item 999488	NM_004281.4(BAG3):c.68C>T (p.Pro23Leu)	BAG3 (P23L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2071275	NM_004281.4(BAG3):c.69C>G (p.Pro23=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 1059911	NM_004281.4(BAG3):c.70C>T (p.Pro24Ser)	BAG3 (P24S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1497740	NM_004281.4(BAG3):c.71C>G (p.Pro24Arg)	BAG3 (P24R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2933293	NM_004281.4(BAG3):c.72C>G (p.Pro24=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 1345781	NM_004281.4(BAG3):c.72C>A (p.Pro24=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2567318	NM_004281.4(BAG3):c.74G>A (p.Gly25Glu)	BAG3 (G25E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1759714	NM_004281.4(BAG3):c.75A>C (p.Gly25=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1350759	NM_004281.4(BAG3):c.76T>G (p.Trp26Gly)	BAG3 (W26G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
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 2928803	NM_004281.4(BAG3):c.84C>G (p.Ile28Met)	BAG3 (I28M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 851274	NM_004281.4(BAG3):c.88A>G (p.Ile30Val)	BAG3 (I30V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2945148	NM_004281.4(BAG3):c.91G>C (p.Asp31His)	BAG3 (D31H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2587229	NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)	BAG3 (P32R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2007830	NM_004281.4(BAG3):c.96_97del (p.Gln33fs)	BAG3 (Q33fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1985573	NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)	BAG3 (P32L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GUncertain significance
Select item 1145407	NM_004281.4(BAG3):c.96G>A (p.Pro32=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 377548	NM_004281.4(BAG3):c.96G>T (p.Pro32=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2107190	NM_004281.4(BAG3):c.99G>A (p.Gln33=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 1481141	NM_004281.4(BAG3):c.99G>C (p.Gln33His)	BAG3 (Q33H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 180009	NM_004281.4(BAG3):c.100_107del (p.Thr34fs)	BAG3 (T34fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 1437440	NM_004281.4(BAG3):c.101C>T (p.Thr34Ile)	BAG3 (T34I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1161908	NM_004281.4(BAG3):c.102C>G (p.Thr34=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 1462897	NM_004281.4(BAG3):c.103G>A (p.Gly35Ser)	BAG3 (G35S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1388942	NM_004281.4(BAG3):c.103G>T (p.Gly35Cys)	BAG3 (G35C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2118726	NM_004281.4(BAG3):c.104G>A (p.Gly35Asp)	BAG3 (G35D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance

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