C3151293[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 68

	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 298947	NM_004281.4(BAG3):c.-294A>C	BAG3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298948	NM_004281.4(BAG3):c.-293T>A	BAG3	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1HH +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 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)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 specified +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 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 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 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 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 44781	NM_004281.4(BAG3):c.231G>A (p.Pro77=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +3 more	GBenign/Likely benign
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 298955	NM_004281.4(BAG3):c.381A>T (p.Ala127=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +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)	Cardiovascular phenotype +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)	not provided +4 more	GBenign/Likely benign
Select item 44784	NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)	BAG3 (A155T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 specified +5 more	GConflicting classifications of pathogenicity
Select item 44785	NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)	BAG3	Microsatellite (inframe_insertion)	not provided +6 more	GBenign/Likely benign
Select item 179298	NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)	BAG3 (A156G)	Single nucleotide variant (missense variant)	not provided +4 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 136493	NM_004281.4(BAG3):c.549C>G (p.Ser183=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 298957	NM_004281.4(BAG3):c.564G>T (p.Leu188=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 44786	NM_004281.4(BAG3):c.606G>T (p.Pro202=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +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 879636	NM_004281.4(BAG3):c.637G>A (p.Glu213Lys)	BAG3 (E213K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 298958	NM_004281.4(BAG3):c.693G>A (p.Thr231=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	not provided +5 more	GBenign/Likely benign
Select item 423527	NM_004281.4(BAG3):c.836C>T (p.Ser279Leu)	BAG3 (S279L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 201675	NM_004281.4(BAG3):c.855G>A (p.Thr285=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +6 more	GConflicting classifications of pathogenicity
Select item 162780	NM_004281.4(BAG3):c.888C>T (p.His296=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 201676	NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)	BAG3 (D300N)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign/Likely benign
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 381919	NM_004281.4(BAG3):c.1029C>A (p.Arg343=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +5 more	GConflicting classifications of pathogenicity
Select item 298959	NM_004281.4(BAG3):c.1214C>T (p.Ala405Val)	BAG3 (A405V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44776	NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu)	BAG3 (P407L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 44777	NM_004281.4(BAG3):c.1296A>G (p.Val432=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +4 more	GBenign
Select item 298960	NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg)	BAG3 (Q433R)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 191612	NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp)	BAG3 (N441D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +3 more	GConflicting classifications of pathogenicity
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 298961	NM_004281.4(BAG3):c.1503C>T (p.Val501=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 298962	NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)	BAG3 (I524T)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 178009	NM_004281.4(BAG3):c.1587C>T (p.Ala529=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 298963	NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)	BAG3 (P545R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 298964	NM_004281.4(BAG3):c.1667C>A (p.Ala556Glu)	BAG3 (A556E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 162788	NM_004281.4(BAG3):c.1674G>A (p.Ala558=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 298965	NM_004281.4(BAG3):c.*31C>T	BAG3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GBenign/Likely benign
Select item 880055	NM_004281.4(BAG3):c.*199A>C	BAG3	Single nucleotide variant (3 prime UTR variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 298966	NM_004281.4(BAG3):c.*218G>C	BAG3	Single nucleotide variant (3 prime UTR variant)	Myofibrillar myopathy 6 +2 more	GBenign
Select item 298968	NM_004281.4(BAG3):c.*267C>A	BAG3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GConflicting classifications of pathogenicity
Select item 298970	NM_004281.4(BAG3):c.*319C>T	BAG3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GConflicting classifications of pathogenicity
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
Select item 878307	NM_004281.4(BAG3):c.*455G>A	BAG3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 878308	NM_004281.4(BAG3):c.*469A>G	BAG3	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 298973	NM_004281.4(BAG3):c.*535A>G	BAG3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign

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Items: 68