VCAN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 151704	GRCh38/hg38 5q14.2-14.3(chr5:83470771-83778887)x1	HAPLN1, LOC126807443 +5 more	Copy number loss	See cases	GUncertain significance
Select item 354382	NM_004385.4(VCAN):c.-334C>T	VCAN	Single nucleotide variant	Wagner syndrome +1 more	GUncertain significance
Select item 354383	NM_004385.5(VCAN):c.-259C>T	VCAN	Single nucleotide variant (5 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 354384	NM_004385.5(VCAN):c.-135G>A	VCAN	Single nucleotide variant (5 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 354385	NM_004385.5(VCAN):c.-119A>C	VCAN	Single nucleotide variant (5 prime UTR variant)	Wagner syndrome +1 more	GBenign/Likely benign
Select item 354386	NM_004385.5(VCAN):c.-89T>C	VCAN	Single nucleotide variant (5 prime UTR variant)	Wagner syndrome +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 354387	NM_004385.5(VCAN):c.-75A>G	VCAN	Single nucleotide variant (5 prime UTR variant)	Wagner syndrome +1 more	GUncertain significance
Select item 1510137	NM_004385.5(VCAN):c.14T>C (p.Ile5Thr)	VCAN (I5T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693715	NM_004385.5(VCAN):c.31A>T (p.Met11Leu)	VCAN (M11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308428	NM_004385.5(VCAN):c.46A>G (p.Ile16Val)	VCAN (I16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768741	NM_004385.5(VCAN):c.54C>A (p.Thr18=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817472	NM_004385.5(VCAN):c.55C>T (p.His19Tyr)	VCAN (H19Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120742	NM_004385.5(VCAN):c.57T>G (p.His19Gln)	VCAN (H19Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607334	NM_004385.5(VCAN):c.60G>A (p.Ala20=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728662	NM_004385.5(VCAN):c.61C>T (p.Leu21=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123325	NM_004385.5(VCAN):c.64C>T (p.His22Tyr)	VCAN (H22Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123326	NM_004385.5(VCAN):c.69A>T (p.Lys23Asn)	VCAN (K23N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544817	NM_004385.5(VCAN):c.70+12A>G	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110549	NM_004385.5(VCAN):c.70+15A>T	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776182	NM_004385.5(VCAN):c.70+16A>G	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661100	NM_004385.5(VCAN):c.70+17T>C	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227255	NM_004385.5(VCAN):c.71-176G>T	VCAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166002	NM_004385.5(VCAN):c.71-18A>G	VCAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964836	NM_004385.5(VCAN):c.71-13C>T	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1144656	NM_004385.5(VCAN):c.71-13C>A	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920049	NM_004385.5(VCAN):c.71-6C>T	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056372	NM_004385.5(VCAN):c.71-4C>G	VCAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1499423	NM_004385.5(VCAN):c.77T>C (p.Val26Ala)	VCAN (V26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928255	NM_004385.5(VCAN):c.88C>T (p.Pro30Ser)	VCAN (P30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2968467	NM_004385.5(VCAN):c.93G>A (p.Pro31=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354388	NM_004385.5(VCAN):c.109T>G (p.Ser37Ala)	VCAN (S37A)	Single nucleotide variant (missense variant)	VCAN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2846040	NM_004385.5(VCAN):c.111T>G (p.Ser37=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918300	NM_004385.5(VCAN):c.118G>A (p.Val40Ile)	VCAN (V40I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488905	NM_004385.5(VCAN):c.118G>T (p.Val40Phe)	VCAN (V40F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603984	NM_004385.5(VCAN):c.120C>T (p.Val40=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576014	NM_004385.5(VCAN):c.123C>T (p.Ser41=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989947	NM_004385.5(VCAN):c.124C>T (p.Leu42=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1467841	NM_004385.5(VCAN):c.135T>A (p.His45Gln)	VCAN (H45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060256	NM_004385.5(VCAN):c.143C>T (p.Thr48Met)	VCAN (T48M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666992	NM_004385.5(VCAN):c.144G>A (p.Thr48=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947372	NM_004385.5(VCAN):c.149C>T (p.Pro50Leu)	VCAN (P50L)	Single nucleotide variant (missense variant)	not provided	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 1571098	NM_004385.5(VCAN):c.159A>G (p.Pro53=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2840280	NM_004385.5(VCAN):c.170A>C (p.Asn57Thr)	VCAN (N57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716468	NM_004385.5(VCAN):c.176G>T (p.Ser59Ile)	VCAN (S59I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1970582	NM_004385.5(VCAN):c.179A>T (p.Glu60Val)	VCAN (E60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063586	NM_004385.5(VCAN):c.183T>G (p.Phe61Leu)	VCAN (F61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040643	NM_004385.5(VCAN):c.183T>C (p.Phe61=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1134221	NM_004385.5(VCAN):c.186C>A (p.Leu62=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1466624	NM_004385.5(VCAN):c.188G>A (p.Arg63His)	VCAN (R63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964139	NM_004385.5(VCAN):c.188G>T (p.Arg63Leu)	VCAN (R63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959241	NM_004385.5(VCAN):c.206T>C (p.Ile69Thr)	VCAN (I69T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106934	NM_004385.5(VCAN):c.214G>A (p.Asp72Asn)	VCAN (D72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045535	NM_004385.5(VCAN):c.215A>G (p.Asp72Gly)	VCAN (D72G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009982	NM_004385.5(VCAN):c.221del (p.Asn74fs)	VCAN (N74fs)	Deletion (frameshift variant)	not provided	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 1365862	NM_004385.5(VCAN):c.229G>A (p.Asp77Asn)	VCAN (D77N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034875	NM_004385.5(VCAN):c.241ACT[1] (p.Thr82del)	VCAN (T82del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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 2050735	NM_004385.5(VCAN):c.250C>T (p.Leu84Phe)	VCAN (L84F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970233	NM_004385.5(VCAN):c.256G>T (p.Ala86Ser)	VCAN (A86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436107	NM_004385.5(VCAN):c.261A>G (p.Gln87=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1015935	NM_004385.5(VCAN):c.261A>C (p.Gln87His)	VCAN (Q87H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919627	NM_004385.5(VCAN):c.272T>C (p.Ile91Thr)	VCAN (I91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 354389	NM_004385.5(VCAN):c.297G>C (p.Gly99=)	VCAN	Single nucleotide variant (synonymous variant)	Wagner syndrome +1 more	GUncertain significance
Select item 1444670	NM_004385.5(VCAN):c.301G>T (p.Val101Leu)	VCAN (V101L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053820	NM_004385.5(VCAN):c.308T>C (p.Val103Ala)	VCAN (V103A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1137822	NM_004385.5(VCAN):c.312C>T (p.Pro104=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668424	NM_004385.5(VCAN):c.321C>T (p.Pro107=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 840226	NM_004385.5(VCAN):c.322G>A (p.Glu108Lys)	VCAN (E108K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837377	NM_004385.5(VCAN):c.328G>T (p.Val110Leu)	VCAN (V110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3011188	NM_004385.5(VCAN):c.333C>A (p.Gly111=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 953530	NM_004385.5(VCAN):c.333C>T (p.Gly111=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921584	NM_004385.5(VCAN):c.347C>T (p.Thr116Ile)	VCAN (T116I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259363	NM_004385.5(VCAN):c.348T>C (p.Thr116=)	VCAN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1721049	NM_004385.5(VCAN):c.349G>T (p.Val117Leu)	VCAN (V117L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100484	NM_004385.5(VCAN):c.353T>C (p.Val118Ala)	VCAN (V118A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003931	NM_004385.5(VCAN):c.362T>C (p.Leu121Pro)	VCAN (L121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072673	NM_004385.5(VCAN):c.363G>A (p.Leu121=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429683	NM_004385.5(VCAN):c.370G>C (p.Asp124His)	VCAN (D124H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 855886	NM_004385.5(VCAN):c.385C>T (p.Arg129Cys)	VCAN (R129C)	Single nucleotide variant (missense variant)	not provided	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 953340	NM_004385.5(VCAN):c.386G>T (p.Arg129Leu)	VCAN (R129L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259364	NM_004385.5(VCAN):c.393C>T (p.Asp131=)	VCAN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 752770	NM_004385.5(VCAN):c.394G>A (p.Val132Ile)	VCAN (V132I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1928201	NM_004385.5(VCAN):c.402C>T (p.Tyr134=)	VCAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1024236	NM_004385.5(VCAN):c.403G>A (p.Gly135Arg)	VCAN (G135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1103653	NM_004385.5(VCAN):c.405G>A (p.Gly135=)	VCAN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2189397	NM_004385.5(VCAN):c.415A>G (p.Thr139Ala)	VCAN (T139A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464714	NM_004385.5(VCAN):c.421G>A (p.Asp141Asn)	VCAN (D141N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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