ClinVar for MedGen (Select 371357) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065550	NM_033337.3(CAV3):c.128A>G (p.Asp43Gly)	CAV3, OXTR (D43G)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GLikely pathogenic
Select item 2501275	NC_000003.11:g.(?_8775485)_(8788452_?)del	CAV3	Deletion	Rippling muscle disease 2	GPathogenic
Select item 1349629	NM_033337.3(CAV3):c.310G>C (p.Val104Leu)	CAV3, OXTR (V104L)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 1025712	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)	CAV3 (Q12R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1025525	NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)	CAV3, OXTR (P83S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 973213	NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)	CAV3, OXTR (I100N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GLikely pathogenic
Select item 931376	NM_033337.3(CAV3):c.65T>C (p.Ile22Thr)	CAV3 (I22T)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 903140	NM_033337.3(CAV3):c.*658T>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 902273	NM_033337.3(CAV3):c.*441T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 900587	NM_033337.3(CAV3):c.*134G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 840845	NM_033337.3(CAV3):c.310G>A (p.Val104Met)	OXTR, CAV3 (V104M)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 798090	NM_033337.3(CAV3):c.60G>A (p.Lys20=)	CAV3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +6 more	GLikely benign
Select item 457130	NM_033337.3(CAV3):c.254C>T (p.Ala85Val)	CAV3, OXTR (A85V)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 409259	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)	CAV3, OXTR (P48R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 409256	NM_033337.3(CAV3):c.221G>A (p.Arg74His)	CAV3, OXTR (R74H)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 409255	NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)	CAV3, OXTR (E42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 409254	NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)	CAV3, OXTR (S61N)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 346863	NM_033337.3(CAV3):c.*852G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346862	NM_033337.3(CAV3):c.*834A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346857	NM_033337.3(CAV3):c.*741G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 346854	NM_033337.3(CAV3):c.*592G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 288112	NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)	CAV3, OXTR (A134T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 279736	NM_033337.3(CAV3):c.401C>T (p.Ala134Val)	CAV3, OXTR (A134V)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 180800	NM_033337.3(CAV3):c.433G>A (p.Val145Met)	OXTR, CAV3 (V145M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GUncertain significance
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome 9 +10 more	GBenign/Likely benign
Select item 31740	NM_033337.3(CAV3):c.114+2T>C	CAV3	Single nucleotide variant (splice donor variant)	Elevated circulating creatine kinase concentration +5 more	GPathogenic
Select item 31730	NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)	CAV3 (E34K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 31716	NM_033337.3(CAV3):c.27C>T (p.Leu9=)	CAV3	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +8 more	GBenign/Likely benign
Select item 8290	NM_033337.3(CAV3):c.139G>A (p.Glu47Lys)	CAV3, OXTR (E47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8286	NM_033337.3(CAV3):c.290_292del (p.Phe97del)	CAV3, OXTR (F97del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 8285	NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	CAV3, OXTR (A93T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 8284	NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)	OXTR, CAV3 (L87P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic
Select item 8282	NM_033337.3(CAV3):c.137C>T (p.Ala46Val)	CAV3, OXTR (A46V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8281	NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	CAV3, OXTR (A46T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 8280	NM_033337.3(CAV3):c.84C>A (p.Asp28Glu)	CAV3 (D28E)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GPathogenic
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Dominant +13 more	GBenign/Likely benign
Select item 8277	NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)	CAV3, OXTR	Deletion (inframe_deletion)	Rippling muscle disease 2	GPathogenic
Select item 8276	NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)	CAV3, OXTR (P105L)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GPathogenic

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Items: 40