"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 377548	NM_004281.4(BAG3):c.96G>T (p.Pro32=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +4 more	GBenign/Likely benign
Select item 136491	NM_004281.4(BAG3):c.181-9T>A	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +3 more	GBenign
Select item 178006	NM_004281.4(BAG3):c.187C>G (p.Pro63Ala)	BAG3 (P63A)	Single nucleotide variant (missense variant)	Atrial fibrillation +6 more	GBenign
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)	Dilated cardiomyopathy 1HH +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 178007	NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)	BAG3 (I94F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 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 1092327	NM_004281.4(BAG3):c.483G>A (p.Gln161=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +2 more	GLikely benign
Select item 1123700	NM_004281.4(BAG3):c.528C>T (p.Ala176=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
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 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 162778	NM_004281.4(BAG3):c.771C>T (p.Pro257=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +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 410232	NM_004281.4(BAG3):c.794C>T (p.Pro265Leu)	BAG3 (P265L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 259263	NM_004281.4(BAG3):c.910-21A>C	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +3 more	GBenign
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 162782	NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)	BAG3 (P380S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +6 more	GBenign/Likely benign
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 1284541	NM_004281.4(BAG3):c.1257dup (p.Pro420fs)	BAG3 (P420fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 377550	NM_004281.4(BAG3):c.1503C>A (p.Val501=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +5 more	GBenign/Likely benign
Select item 812168	NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys)	BAG3 (Q551K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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Items: 30