ClinVar for MedGen (Select 326741) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064822	NM_004385.5(VCAN):c.7109A>G (p.Gln2370Arg)	VCAN, VCAN-AS1 (Q1383R +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome	GUncertain significance
Select item 1699118	NM_004385.5(VCAN):c.2381G>C (p.Ser794Thr)	VCAN (S794T)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome	GUncertain significance
Select item 1528857	NM_004385.5(VCAN):c.3540A>G (p.Leu1180=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1474021	NM_004385.5(VCAN):c.10157G>A (p.Arg3386His)	VCAN (R3386H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1330399	NM_004385.5(VCAN):c.7462A>G (p.Met2488Val)	VCAN, VCAN-AS1 (M1501V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1301664	NM_004385.5(VCAN):c.7885C>A (p.Leu2629Ile)	VCAN, VCAN-AS1 (L1642I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1165808	NM_004385.5(VCAN):c.7626T>C (p.Asn2542=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1050969	NM_004385.5(VCAN):c.1874G>A (p.Arg625Lys)	VCAN (R625K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 971959	NM_004385.5(VCAN):c.6034G>A (p.Gly2012Ser)	VCAN, VCAN-AS1 (G1025S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 970182	NM_004385.5(VCAN):c.10165C>T (p.Arg3389Trp)	VCAN (R2402W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931650	NM_004385.5(VCAN):c.9918G>C (p.Lys3306Asn)	VCAN (K565N +3 more)	Single nucleotide variant (missense variant)	Wagner syndrome +1 more	GUncertain significance
Select item 930695	NM_004385.5(VCAN):c.6277G>C (p.Glu2093Gln)	VCAN, VCAN-AS1 (E1106Q +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome	GUncertain significance
Select item 907814	NM_004385.5(VCAN):c.*1296A>G	VCAN	Single nucleotide variant (3 prime UTR variant)	Vitreoretinopathy +1 more	GBenign
Select item 907764	NM_004385.5(VCAN):c.*625G>A	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 907719	NM_004385.5(VCAN):c.9403C>A (p.Pro3135Thr)	VCAN, VCAN-AS1 (P3135T +3 more)	Single nucleotide variant (missense variant)	Wagner syndrome +1 more	GUncertain significance
Select item 907644	NM_004385.5(VCAN):c.9009G>A (p.Thr3003=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 907575	NM_004385.5(VCAN):c.8052C>T (p.Asp2684=)	VCAN-AS1, VCAN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 907574	NM_004385.5(VCAN):c.7999G>C (p.Gly2667Arg)	VCAN, VCAN-AS1 (G2667R +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +1 more	GBenign
Select item 907515	NM_004385.5(VCAN):c.7434T>G (p.Thr2478=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 907453	NM_004385.5(VCAN):c.6649C>T (p.Pro2217Ser)	VCAN, VCAN-AS1 (P2217S +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 907452	NM_004385.5(VCAN):c.6322C>G (p.Gln2108Glu)	VCAN, VCAN-AS1 (Q1121E +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 907451	NM_004385.5(VCAN):c.6269A>G (p.Gln2090Arg)	VCAN, VCAN-AS1 (Q1103R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 907400	NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe)	VCAN, VCAN-AS1 (S843F +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +4 more	GConflicting classifications of pathogenicity
Select item 907335	NM_004385.5(VCAN):c.4545C>T (p.Ala1515=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 907150	NM_004385.5(VCAN):c.1240G>A (p.Ala414Thr)	VCAN (A414T)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +2 more	GUncertain significance
Select item 907149	NM_004385.5(VCAN):c.1127A>C (p.Asp376Ala)	VCAN (D376A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 906888	NM_004385.5(VCAN):c.*1753C>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 906887	NM_004385.5(VCAN):c.*1717C>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 906823	NM_004385.5(VCAN):c.*1081C>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Vitreoretinopathy +1 more	GBenign
Select item 906774	NM_004385.5(VCAN):c.*93G>A	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 906773	NM_004385.5(VCAN):c.*89A>G	VCAN	Single nucleotide variant (3 prime UTR variant)	Vitreoretinopathy +1 more	GBenign
Select item 906620	NM_004385.5(VCAN):c.8634A>G (p.Pro2878=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +2 more	GLikely benign
Select item 906619	NM_004385.5(VCAN):c.8482C>T (p.Pro2828Ser)	VCAN, VCAN-AS1 (P2828S +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +1 more	GUncertain significance
Select item 906506	NM_004385.5(VCAN):c.7371C>T (p.Thr2457=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +2 more	GBenign
Select item 906505	NM_004385.5(VCAN):c.7337C>T (p.Ala2446Val)	VCAN, VCAN-AS1 (A2446V +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +2 more	GUncertain significance
Select item 906460	NM_004385.5(VCAN):c.6138A>G (p.Gly2046=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Wagner syndrome +1 more	GUncertain significance
Select item 906329	NM_004385.5(VCAN):c.4292G>A (p.Arg1431His)	VCAN, VCAN-AS1 (R1431H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 906273	NM_004385.5(VCAN):c.3202G>A (p.Gly1068Ser)	VCAN (G1068S)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +1 more	GUncertain significance
Select item 906147	NM_004385.5(VCAN):c.1112C>T (p.Pro371Leu)	VCAN (P371L)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +1 more	GUncertain significance
Select item 906146	NM_004385.5(VCAN):c.1009C>G (p.Pro337Ala)	VCAN (P337A)	Single nucleotide variant (missense variant)	Wagner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 906080	NM_004385.5(VCAN):c.375G>A (p.Ala125=)	VCAN	Single nucleotide variant (synonymous variant)	Wagner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 906079	NM_004385.5(VCAN):c.329T>G (p.Val110Gly)	VCAN (V110G)	Single nucleotide variant (missense variant)	Vitreoretinopathy +2 more	GBenign/Likely benign
Select item 905822	NM_004385.5(VCAN):c.4022G>A (p.Ser1341Asn)	VCAN, VCAN-AS1 (S354N +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +1 more	GUncertain significance
Select item 905761	NM_004385.5(VCAN):c.3046A>G (p.Ile1016Val)	VCAN (I1016V)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +2 more	GUncertain significance
Select item 905696	NM_004385.5(VCAN):c.1896G>A (p.Thr632=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	Wagner syndrome +2 more	GBenign/Likely benign
Select item 905636	NM_004385.5(VCAN):c.909C>T (p.Ser303=)	VCAN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 905572	NM_004385.5(VCAN):c.249C>A (p.Val83=)	VCAN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 905287	NM_004385.5(VCAN):c.*1717C>A	VCAN	Single nucleotide variant (3 prime UTR variant)	Vitreoretinopathy +1 more	GBenign
Select item 905111	NM_004385.5(VCAN):c.9266-14C>T	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	Wagner syndrome +1 more	GUncertain significance
Select item 905110	NM_004385.5(VCAN):c.9265+4A>G	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	Wagner syndrome +1 more	GUncertain significance
Select item 905109	NM_004385.5(VCAN):c.9218T>C (p.Ile3073Thr)	VCAN, VCAN-AS1 (I3073T +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +2 more	GUncertain significance
Select item 905032	NM_004385.5(VCAN):c.8474C>T (p.Pro2825Leu)	VCAN, VCAN-AS1 (P2825L +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 904910	NM_004385.5(VCAN):c.6829G>A (p.Glu2277Lys)	VCAN, VCAN-AS1 (E1290K +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 904784	NM_004385.5(VCAN):c.-87A>G	VCAN	Single nucleotide variant (5 prime UTR variant)	Vitreoretinopathy +1 more	GUncertain significance
Select item 904441	NM_004385.5(VCAN):c.*819T>C	VCAN	Single nucleotide variant (3 prime UTR variant)	Vitreoretinopathy +1 more	GUncertain significance
Select item 904440	NM_004385.5(VCAN):c.*672A>G	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign
Select item 904379	NM_004385.5(VCAN):c.9758A>G (p.Asn3253Ser)	VCAN (N1499S +3 more)	Single nucleotide variant (missense variant)	VCAN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 904378	NM_004385.5(VCAN):c.9619A>G (p.Ile3207Val)	VCAN, VCAN-AS1 (I1453V +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 904377	NM_004385.5(VCAN):c.9494-9T>G	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	Vitreoretinopathy +1 more	GUncertain significance
Select item 904246	NM_004385.5(VCAN):c.8089C>T (p.Arg2697Cys)	VCAN, VCAN-AS1 (R2697C +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 904189	NM_004385.5(VCAN):c.7447C>G (p.Pro2483Ala)	VCAN, VCAN-AS1 (P1496A +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +1 more	GUncertain significance
Select item 904135	NM_004385.5(VCAN):c.6727A>G (p.Thr2243Ala)	VCAN, VCAN-AS1 (T1256A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 904134	NM_004385.5(VCAN):c.6704A>T (p.His2235Leu)	VCAN, VCAN-AS1 (H2235L +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 904066	NM_004385.5(VCAN):c.5681T>C (p.Val1894Ala)	VCAN, VCAN-AS1 (V1894A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904002	NM_004385.5(VCAN):c.4805C>A (p.Thr1602Asn)	VCAN, VCAN-AS1 (T1602N +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GUncertain significance
Select item 904001	NM_004385.5(VCAN):c.4761T>A (p.Val1587=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 904000	NM_004385.5(VCAN):c.4643C>T (p.Ser1548Leu)	VCAN, VCAN-AS1 (S1548L +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +3 more	GConflicting classifications of pathogenicity
Select item 903936	NM_004385.5(VCAN):c.3673C>A (p.Pro1225Thr)	VCAN (P1225T)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 903935	NM_004385.5(VCAN):c.3340G>A (p.Val1114Met)	VCAN (V1114M)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +1 more	GUncertain significance
Select item 903870	NM_004385.5(VCAN):c.2925T>C (p.Leu975=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	Wagner syndrome +2 more	GBenign
Select item 903869	NM_004385.5(VCAN):c.2741G>A (p.Gly914Asp)	VCAN (G914D)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +2 more	GUncertain significance
Select item 903868	NM_004385.5(VCAN):c.2668G>T (p.Gly890Cys)	VCAN (G890C)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +3 more	GBenign/Likely benign
Select item 903797	NM_004385.5(VCAN):c.1650C>T (p.Phe550=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	VCAN-related condition +3 more	GBenign/Likely benign
Select item 903796	NM_004385.5(VCAN):c.1457C>T (p.Ser486Leu)	VCAN (S486L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 903795	NM_004385.5(VCAN):c.1369G>A (p.Glu457Lys)	VCAN (E457K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 903717	NM_004385.5(VCAN):c.630C>T (p.Ile210=)	VCAN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 860846	NM_004385.5(VCAN):c.160C>T (p.Pro54Ser)	VCAN (P54S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 857013	NM_004385.5(VCAN):c.9049G>C (p.Ala3017Pro)	VCAN-AS1, VCAN (A3017P +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +3 more	GConflicting classifications of pathogenicity
Select item 852760	NM_004385.5(VCAN):c.7893A>T (p.Leu2631Phe)	VCAN, VCAN-AS1 (L1644F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 850338	NM_004385.5(VCAN):c.5201C>T (p.Thr1734Met)	VCAN, VCAN-AS1 (T1734M +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +2 more	GUncertain significance
Select item 848210	NM_004385.5(VCAN):c.221A>G (p.Asn74Ser)	VCAN (N74S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 843872	NM_004385.5(VCAN):c.157C>T (p.Pro53Ser)	VCAN (P53S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 813123	NM_004385.5(VCAN):c.4004-2A>C	VCAN, VCAN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 728947	NM_004385.5(VCAN):c.2887C>T (p.Pro963Ser)	VCAN (P963S)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +2 more	GBenign
Select item 498450	NM_004385.5(VCAN):c.9454C>G (p.Leu3152Val)	VCAN-AS1, VCAN (L3152V +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 354500	NM_004385.5(VCAN):c.*1678G>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign
Select item 354499	NM_004385.5(VCAN):c.*1671C>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 354498	NM_004385.5(VCAN):c.*1652G>C	VCAN	Single nucleotide variant (3 prime UTR variant)	Vitreoretinopathy +1 more	GBenign/Likely benign
Select item 354497	NM_004385.5(VCAN):c.*1614G>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign/Likely benign
Select item 354496	NM_004385.5(VCAN):c.*1603T>C	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign
Select item 354495	NM_004385.5(VCAN):c.*1601T>A	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign
Select item 354494	NM_004385.5(VCAN):c.*1548del	VCAN	Deletion (3 prime UTR variant)	Vitreoretinopathy +1 more	GBenign
Select item 354493	NM_004385.5(VCAN):c.*1436C>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Vitreoretinopathy +1 more	GBenign
Select item 354492	NM_004385.5(VCAN):c.*1429A>G	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign
Select item 354491	NM_004385.5(VCAN):c.*1408G>A	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 354490	NM_004385.5(VCAN):c.*1266G>C	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign/Likely benign
Select item 354489	NM_004385.5(VCAN):c.*1091C>T	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 354488	NM_004385.5(VCAN):c.*1031T>C	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 354487	NM_004385.5(VCAN):c.*961T>C	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign/Likely benign
Select item 354486	NM_004385.5(VCAN):c.*910A>C	VCAN	Single nucleotide variant (3 prime UTR variant)	Wagner syndrome +1 more	GBenign

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