"Ambry Genetics"[submitter] AND "VCAN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 954214	NM_004385.5(VCAN):c.92C>T (p.Pro31Leu)	VCAN (P31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2284032	NM_004385.5(VCAN):c.127C>T (p.Pro43Ser)	VCAN (P43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1060924	NM_004385.5(VCAN):c.133C>T (p.His45Tyr)	VCAN (H45Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2485381	NM_004385.5(VCAN):c.179A>C (p.Glu60Ala)	VCAN (E60A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 963650	NM_004385.5(VCAN):c.187C>T (p.Arg63Cys)	VCAN (R63C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047509	NM_004385.5(VCAN):c.386G>A (p.Arg129His)	VCAN (R129H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1061681	NM_004385.5(VCAN):c.425C>T (p.Thr142Met)	VCAN (T142M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2329931	NM_004385.5(VCAN):c.707A>G (p.Gln236Arg)	VCAN (Q236R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614230	NM_004385.5(VCAN):c.806A>C (p.Glu269Ala)	VCAN (E269A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 354393	NM_004385.5(VCAN):c.854C>T (p.Ala285Val)	VCAN (A285V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1045729	NM_004385.5(VCAN):c.959T>G (p.Leu320Arg)	VCAN (L320R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1511977	NM_004385.5(VCAN):c.1262C>G (p.Thr421Ser)	VCAN (T421S)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 2065248	NM_004385.5(VCAN):c.1270C>T (p.Pro424Ser)	VCAN (P424S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1952945	NM_004385.5(VCAN):c.1291A>G (p.Lys431Glu)	VCAN (K431E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1165960	NM_004385.5(VCAN):c.1396G>A (p.Val466Ile)	VCAN (V466I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 958173	NM_004385.5(VCAN):c.1526C>G (p.Pro509Arg)	VCAN (P509R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1010677	NM_004385.5(VCAN):c.1595A>C (p.Glu532Ala)	VCAN (E532A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1949617	NM_004385.5(VCAN):c.1694G>A (p.Gly565Glu)	VCAN (G565E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1624548	NM_004385.5(VCAN):c.1846G>C (p.Gly616Arg)	VCAN (G616R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1930022	NM_004385.5(VCAN):c.1924A>G (p.Thr642Ala)	VCAN (T642A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2535428	NM_004385.5(VCAN):c.1976C>A (p.Ser659Tyr)	VCAN (S659Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252463	NM_004385.5(VCAN):c.2134T>C (p.Phe712Leu)	VCAN (F712L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327326	NM_004385.5(VCAN):c.2201T>G (p.Ile734Ser)	VCAN (I734S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522972	NM_004385.5(VCAN):c.2413T>C (p.Trp805Arg)	VCAN (W805R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527587	NM_004385.5(VCAN):c.2432C>A (p.Thr811Lys)	VCAN (T811K)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +1 more	GUncertain significance
Select item 286770	NM_004385.5(VCAN):c.2506A>G (p.Met836Val)	VCAN (M836V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 354407	NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys)	VCAN (E848K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 765039	NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg)	VCAN (I873R)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1044536	NM_004385.5(VCAN):c.2656A>G (p.Thr886Ala)	VCAN (T886A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1396449	NM_004385.5(VCAN):c.2861T>A (p.Phe954Tyr)	VCAN (F954Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1518384	NM_004385.5(VCAN):c.2876G>A (p.Ser959Asn)	VCAN (S959N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 944596	NM_004385.5(VCAN):c.2879C>T (p.Thr960Ile)	VCAN (T960I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2384548	NM_004385.5(VCAN):c.2918T>C (p.Ile973Thr)	VCAN (I973T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1059045	NM_004385.5(VCAN):c.3023A>C (p.Asp1008Ala)	VCAN (D1008A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1025276	NM_004385.5(VCAN):c.3031C>T (p.Arg1011Cys)	VCAN (R1011C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2231577	NM_004385.5(VCAN):c.3082G>C (p.Glu1028Gln)	VCAN (E1028Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 354412	NM_004385.5(VCAN):c.3094C>G (p.Gln1032Glu)	VCAN (Q1032E)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2249286	NM_004385.5(VCAN):c.3143C>T (p.Ala1048Val)	VCAN (A1048V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539019	NM_004385.5(VCAN):c.3235G>A (p.Glu1079Lys)	VCAN (E1079K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1503895	NM_004385.5(VCAN):c.3248G>A (p.Gly1083Asp)	VCAN (G1083D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 937465	NM_004385.5(VCAN):c.3280C>G (p.Pro1094Ala)	VCAN (P1094A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2528522	NM_004385.5(VCAN):c.3446G>A (p.Gly1149Glu)	VCAN (G1149E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2618447	NM_004385.5(VCAN):c.3634A>G (p.Ser1212Gly)	VCAN (S1212G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1919779	NM_004385.5(VCAN):c.3650T>C (p.Leu1217Pro)	VCAN (L1217P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1390559	NM_004385.5(VCAN):c.3682G>A (p.Ala1228Thr)	VCAN (A1228T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 198510	NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr)	VCAN (R1238T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2609512	NM_004385.5(VCAN):c.3767C>G (p.Ser1256Cys)	VCAN (S1256C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 198509	NM_004385.5(VCAN):c.3957C>A (p.His1319Gln)	VCAN (H1319Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 17494	NM_004385.5(VCAN):c.4004-2A>G	VCAN, VCAN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2279659	NM_004385.5(VCAN):c.4055A>T (p.Lys1352Ile)	VCAN, VCAN-AS1 (K365I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1463150	NM_004385.5(VCAN):c.4127C>G (p.Pro1376Arg)	VCAN, VCAN-AS1 (P1376R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2260508	NM_004385.5(VCAN):c.4132A>G (p.Ile1378Val)	VCAN, VCAN-AS1 (I391V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1418295	NM_004385.5(VCAN):c.4186T>A (p.Cys1396Ser)	VCAN, VCAN-AS1 (C409S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1043183	NM_004385.5(VCAN):c.4238G>A (p.Gly1413Glu)	VCAN, VCAN-AS1 (G426E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 962062	NM_004385.5(VCAN):c.4291C>T (p.Arg1431Cys)	VCAN, VCAN-AS1 (R1431C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1063253	NM_004385.5(VCAN):c.4376C>T (p.Thr1459Met)	VCAN, VCAN-AS1 (T1459M +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +2 more	GUncertain significance
Select item 730300	NM_004385.5(VCAN):c.4381T>A (p.Leu1461Met)	VCAN, VCAN-AS1 (L1461M +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2484607	NM_004385.5(VCAN):c.4534A>T (p.Ser1512Cys)	VCAN, VCAN-AS1 (S1512C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 198795	NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu)	VCAN, VCAN-AS1 (K1516E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2553163	NM_004385.5(VCAN):c.4616C>G (p.Pro1539Arg)	VCAN, VCAN-AS1 (P1539R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2018602	NM_004385.5(VCAN):c.4619T>C (p.Val1540Ala)	VCAN, VCAN-AS1 (V1540A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 1038488	NM_004385.5(VCAN):c.4901C>A (p.Ser1634Tyr)	VCAN, VCAN-AS1 (S647Y +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +2 more	GUncertain significance
Select item 2466013	NM_004385.5(VCAN):c.4954A>G (p.Met1652Val)	VCAN, VCAN-AS1 (M665V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1418296	NM_004385.5(VCAN):c.4982A>G (p.Gln1661Arg)	VCAN-AS1, VCAN (Q674R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2483056	NM_004385.5(VCAN):c.5137G>C (p.Glu1713Gln)	VCAN, VCAN-AS1 (E726Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1010301	NM_004385.5(VCAN):c.5147C>G (p.Ser1716Cys)	VCAN, VCAN-AS1 (S1716C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2004628	NM_004385.5(VCAN):c.5234A>G (p.Gln1745Arg)	VCAN, VCAN-AS1 (Q758R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2313443	NM_004385.5(VCAN):c.5359A>G (p.Thr1787Ala)	VCAN, VCAN-AS1 (T1787A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304778	NM_004385.5(VCAN):c.5371C>A (p.Pro1791Thr)	VCAN-AS1, VCAN (P804T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1904112	NM_004385.5(VCAN):c.5374G>A (p.Val1792Ile)	VCAN, VCAN-AS1 (V1792I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 730301	NM_004385.5(VCAN):c.5410G>A (p.Ala1804Thr)	VCAN, VCAN-AS1 (A1804T +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1500787	NM_004385.5(VCAN):c.5414A>G (p.Gln1805Arg)	VCAN, VCAN-AS1 (Q1805R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1361990	NM_004385.5(VCAN):c.5527G>A (p.Asp1843Asn)	VCAN, VCAN-AS1 (D856N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2312755	NM_004385.5(VCAN):c.5542A>G (p.Thr1848Ala)	VCAN, VCAN-AS1 (T861A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2149521	NM_004385.5(VCAN):c.5603G>A (p.Gly1868Asp)	VCAN, VCAN-AS1 (G881D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2337176	NM_004385.5(VCAN):c.5636C>T (p.Ser1879Phe)	VCAN-AS1, VCAN (S1879F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 964634	NM_004385.5(VCAN):c.5716A>G (p.Ile1906Val)	VCAN, VCAN-AS1 (I919V +1 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 858758	NM_004385.5(VCAN):c.5732G>A (p.Arg1911Gln)	VCAN, VCAN-AS1 (R1911Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1495689	NM_004385.5(VCAN):c.5809G>A (p.Asp1937Asn)	VCAN, VCAN-AS1 (D1937N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1048832	NM_004385.5(VCAN):c.5947A>T (p.Ile1983Leu)	VCAN, VCAN-AS1 (I1983L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1151975	NM_004385.5(VCAN):c.6124G>A (p.Asp2042Asn)	VCAN, VCAN-AS1 (D1055N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354432	NM_004385.5(VCAN):c.6127G>A (p.Glu2043Lys)	VCAN, VCAN-AS1 (E2043K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2495191	NM_004385.5(VCAN):c.6232G>A (p.Val2078Ile)	VCAN, VCAN-AS1 (V1091I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1060524	NM_004385.5(VCAN):c.6238G>T (p.Val2080Phe)	VCAN, VCAN-AS1 (V1093F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2012521	NM_004385.5(VCAN):c.6366A>T (p.Glu2122Asp)	VCAN, VCAN-AS1 (E1135D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2374124	NM_004385.5(VCAN):c.6463T>A (p.Tyr2155Asn)	VCAN-AS1, VCAN (Y2155N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1104728	NM_004385.5(VCAN):c.6482A>G (p.Lys2161Arg)	VCAN, VCAN-AS1 (K1174R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2622949	NM_004385.5(VCAN):c.6872A>T (p.Glu2291Val)	VCAN, VCAN-AS1 (E1304V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1515630	NM_004385.5(VCAN):c.7177G>A (p.Glu2393Lys)	VCAN, VCAN-AS1 (E2393K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2557398	NM_004385.5(VCAN):c.7367G>A (p.Ser2456Asn)	VCAN, VCAN-AS1 (S1469N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1155082	NM_004385.5(VCAN):c.7420G>A (p.Ala2474Thr)	VCAN, VCAN-AS1 (A1487T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2287350	NM_004385.5(VCAN):c.7427C>G (p.Ala2476Gly)	VCAN-AS1, VCAN (A2476G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 354442	NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu)	VCAN, VCAN-AS1 (K2497E +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +4 more	GBenign/Likely benign
Select item 1475231	NM_004385.5(VCAN):c.7552G>A (p.Gly2518Ser)	VCAN, VCAN-AS1 (G2518S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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