"PreventionGenetics, part of Exact Sciences"[submitter] AND "VCAN"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 354388	NM_004385.5(VCAN):c.109T>G (p.Ser37Ala)	VCAN (S37A)	Single nucleotide variant (missense variant)	Vitreoretinopathy +3 more	GConflicting classifications of pathogenicity
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 259364	NM_004385.5(VCAN):c.393C>T (p.Asp131=)	VCAN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1103653	NM_004385.5(VCAN):c.405G>A (p.Gly135=)	VCAN	Single nucleotide variant (synonymous variant)	VCAN-related disorder +1 more	GLikely benign
Select item 259369	NM_004385.5(VCAN):c.574G>A (p.Gly192Arg)	VCAN (G192R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259373	NM_004385.5(VCAN):c.645A>G (p.Val215=)	VCAN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1169066	NM_004385.5(VCAN):c.849C>T (p.Leu283=)	VCAN	Single nucleotide variant (synonymous variant)	VCAN-related disorder +1 more	GBenign/Likely benign
Select item 354393	NM_004385.5(VCAN):c.854C>T (p.Ala285Val)	VCAN (A285V)	Single nucleotide variant (missense variant)	Vitreoretinopathy +4 more	GConflicting classifications of pathogenicity
Select item 1939831	NM_004385.5(VCAN):c.891G>A (p.Gly297=)	VCAN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 198170	NM_004385.5(VCAN):c.899C>T (p.Ser300Leu)	VCAN (S300L)	Single nucleotide variant (missense variant)	Wagner syndrome +3 more	GBenign
Select item 1167697	NM_004385.5(VCAN):c.1243A>G (p.Ile415Val)	VCAN (I415V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 759951	NM_004385.5(VCAN):c.1281T>C (p.Thr427=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 259361	NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp)	VCAN (G428D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1167698	NM_004385.5(VCAN):c.1400C>T (p.Ser467Phe)	VCAN (S467F)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +1 more	GBenign
Select item 2632004	NM_004385.5(VCAN):c.1486G>A (p.Gly496Ser)	VCAN (G496S)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder	GUncertain significance
Select item 903797	NM_004385.5(VCAN):c.1650C>T (p.Phe550=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	Wagner syndrome +3 more	GBenign/Likely benign
Select item 1167974	NM_004385.5(VCAN):c.1775C>T (p.Thr592Ile)	VCAN (T592I)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +1 more	GBenign/Likely benign
Select item 2635339	NM_004385.5(VCAN):c.1874G>C (p.Arg625Thr)	VCAN (R625T)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder	GUncertain significance
Select item 354401	NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)	VCAN (P644L)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +4 more	GConflicting classifications of pathogenicity
Select item 1167699	NM_004385.5(VCAN):c.2028A>G (p.Leu676=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GBenign
Select item 259362	NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr)	VCAN (K745T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2527587	NM_004385.5(VCAN):c.2432C>A (p.Thr811Lys)	VCAN (T811K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 765039	NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg)	VCAN (I873R)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1167700	NM_004385.5(VCAN):c.2666C>T (p.Thr889Ile)	VCAN (T889I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 903868	NM_004385.5(VCAN):c.2668G>T (p.Gly890Cys)	VCAN (G890C)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +3 more	GBenign/Likely benign
Select item 857629	NM_004385.5(VCAN):c.2683T>C (p.Ser895Pro)	VCAN (S895P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1101149	NM_004385.5(VCAN):c.2784A>G (p.Val928=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GLikely benign
Select item 1078922	NM_004385.5(VCAN):c.2909C>T (p.Ser970Phe)	VCAN (S970F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 354412	NM_004385.5(VCAN):c.3094C>G (p.Gln1032Glu)	VCAN (Q1032E)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +4 more	GConflicting classifications of pathogenicity
Select item 354414	NM_004385.5(VCAN):c.3188T>C (p.Leu1063Pro)	VCAN (L1063P)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +3 more	GBenign/Likely benign
Select item 1156544	NM_004385.5(VCAN):c.3374G>A (p.Arg1125His)	VCAN (R1125H)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +1 more	GLikely benign
Select item 1113436	NM_004385.5(VCAN):c.3405G>A (p.Gly1135=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GLikely benign
Select item 3043998	NM_004385.5(VCAN):c.3675A>G (p.Pro1225=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder	GLikely benign
Select item 1538973	NM_004385.5(VCAN):c.3927G>A (p.Thr1309=)	VCAN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 198803	NM_004385.5(VCAN):c.4323G>A (p.Gln1441=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
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 disorder +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259365	NM_004385.5(VCAN):c.4422T>C (p.Thr1474=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1943677	NM_004385.5(VCAN):c.4461T>C (p.Pro1487=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 167820	NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg)	VCAN, VCAN-AS1 (K1516R +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +3 more	GBenign
Select item 259366	NM_004385.5(VCAN):c.4569A>G (p.Thr1523=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
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 disorder +2 more	GUncertain significance
Select item 1054996	NM_004385.5(VCAN):c.5069A>G (p.Tyr1690Cys)	VCAN, VCAN-AS1 (Y1690C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 259367	NM_004385.5(VCAN):c.5155A>T (p.Thr1719Ser)	VCAN, VCAN-AS1 (T1719S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 167822	NM_004385.5(VCAN):c.5187G>A (p.Glu1729=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1637531	NM_004385.5(VCAN):c.5280T>C (p.Asn1760=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1641682	NM_004385.5(VCAN):c.5442A>T (p.Gln1814His)	VCAN, VCAN-AS1 (Q1814H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1559903	NM_004385.5(VCAN):c.5463G>C (p.Leu1821=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 167823	NM_004385.5(VCAN):c.5477G>A (p.Arg1826His)	VCAN, VCAN-AS1 (R1826H +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +3 more	GBenign
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)	Wagner syndrome +4 more	GConflicting classifications of pathogenicity
Select item 259368	NM_004385.5(VCAN):c.5576C>A (p.Ala1859Glu)	VCAN, VCAN-AS1 (A1859E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 2635951	NM_004385.5(VCAN):c.5620G>A (p.Val1874Met)	VCAN, VCAN-AS1 (V1874M +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder	GUncertain significance
Select item 956616	NM_004385.5(VCAN):c.5656G>A (p.Val1886Ile)	VCAN, VCAN-AS1 (V1886I +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +1 more	GUncertain significance
Select item 259370	NM_004385.5(VCAN):c.5750A>T (p.Tyr1917Phe)	VCAN, VCAN-AS1 (Y1917F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 167824	NM_004385.5(VCAN):c.5808T>C (p.Gly1936=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1078517	NM_004385.5(VCAN):c.5859G>A (p.Thr1953=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GLikely benign
Select item 1410017	NM_004385.5(VCAN):c.5902C>G (p.Gln1968Glu)	VCAN, VCAN-AS1 (Q981E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1964351	NM_004385.5(VCAN):c.5963G>T (p.Gly1988Val)	VCAN, VCAN-AS1 (G1001V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2631179	NM_004385.5(VCAN):c.6037G>A (p.Glu2013Lys)	VCAN, VCAN-AS1 (E1026K +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder	GUncertain significance
Select item 1377781	NM_004385.5(VCAN):c.6053T>A (p.Val2018Asp)	VCAN, VCAN-AS1 (V1031D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1521157	NM_004385.5(VCAN):c.6067G>T (p.Val2023Phe)	VCAN, VCAN-AS1 (V2023F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 259371	NM_004385.5(VCAN):c.6123C>T (p.Ile2041=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 259372	NM_004385.5(VCAN):c.6237G>A (p.Lys2079=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 847446	NM_004385.5(VCAN):c.6283G>A (p.Ala2095Thr)	VCAN-AS1, VCAN (A1108T +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +2 more	GUncertain significance
Select item 1126910	NM_004385.5(VCAN):c.6472C>T (p.Leu2158=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GLikely benign
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)	Wagner syndrome +4 more	GConflicting classifications of pathogenicity
Select item 354435	NM_004385.5(VCAN):c.6672T>C (p.Asp2224=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +3 more	GLikely benign
Select item 198797	NM_004385.5(VCAN):c.6723A>G (p.Arg2241=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +3 more	GBenign
Select item 198796	NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)	VCAN-AS1, VCAN (L2256P +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +3 more	GConflicting classifications of pathogenicity
Select item 1123396	NM_004385.5(VCAN):c.6771A>T (p.Gly2257=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2631660	NM_004385.5(VCAN):c.6868G>C (p.Val2290Leu)	VCAN, VCAN-AS1 (V1303L +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder	GUncertain significance
Select item 198798	NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr)	VCAN, VCAN-AS1 (F2301Y +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +3 more	GBenign
Select item 167826	NM_004385.5(VCAN):c.7065C>T (p.Ile2355=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1660496	NM_004385.5(VCAN):c.7185A>C (p.Thr2395=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GLikely benign
Select item 1920496	NM_004385.5(VCAN):c.7230G>T (p.Met2410Ile)	VCAN, VCAN-AS1 (M1423I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1046683	NM_004385.5(VCAN):c.7283C>T (p.Pro2428Leu)	VCAN, VCAN-AS1 (P1441L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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)	Vitreoretinopathy +4 more	GBenign/Likely benign
Select item 354447	NM_004385.5(VCAN):c.7715C>T (p.Ser2572Leu)	VCAN, VCAN-AS1 (S2572L +1 more)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +3 more	GBenign/Likely benign
Select item 1911104	NM_004385.5(VCAN):c.7971T>C (p.Tyr2657=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1111194	NM_004385.5(VCAN):c.8012C>A (p.Thr2671Lys)	VCAN, VCAN-AS1 (T1684K +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1166534	NM_004385.5(VCAN):c.8067G>A (p.Thr2689=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GBenign/Likely benign
Select item 2631450	NM_004385.5(VCAN):c.8194G>A (p.Ala2732Thr)	VCAN, VCAN-AS1 (A1745T +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder	GUncertain significance
Select item 1566303	NM_004385.5(VCAN):c.8448A>T (p.Thr2816=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 740325	NM_004385.5(VCAN):c.8463T>G (p.Ser2821=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GLikely benign
Select item 198799	NM_004385.5(VCAN):c.8622G>A (p.Ala2874=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 198802	NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr)	VCAN, VCAN-AS1 (D2937Y +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +3 more	GBenign
Select item 956818	NM_004385.5(VCAN):c.8919G>T (p.Gln2973His)	VCAN, VCAN-AS1 (Q1986H +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder +1 more	GUncertain significance
Select item 730303	NM_004385.5(VCAN):c.8919G>C (p.Gln2973His)	VCAN, VCAN-AS1 (Q1986H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 259374	NM_004385.5(VCAN):c.9033C>A (p.Asn3011Lys)	VCAN, VCAN-AS1 (N3011K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 259375	NM_004385.5(VCAN):c.9075G>A (p.Thr3025=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 198800	NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val)	VCAN, VCAN-AS1 (A3035V +1 more)	Single nucleotide variant (missense variant +1 more)	Wagner syndrome +3 more	GBenign
Select item 3031823	NM_004385.5(VCAN):c.9164T>G (p.Val3055Gly)	VCAN, VCAN-AS1 (V2068G +1 more)	Single nucleotide variant (missense variant +1 more)	VCAN-related disorder	GUncertain significance
Select item 259376	NM_004385.5(VCAN):c.9234G>A (p.Glu3078=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Wagner syndrome +3 more	GBenign/Likely benign
Select item 1536749	NM_004385.5(VCAN):c.9249G>A (p.Thr3083=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	VCAN-related disorder +1 more	GLikely benign
Select item 1144140	NM_004385.5(VCAN):c.9312T>C (p.Cys3104=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant)	VCAN-related disorder +1 more	GLikely benign
Select item 259377	NM_004385.5(VCAN):c.9379+7T>C	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	Wagner syndrome +3 more	GBenign
Select item 354465	NM_004385.5(VCAN):c.9380-4T>A	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	Vitreoretinopathy +3 more	GBenign/Likely benign
Select item 2636871	NM_004385.5(VCAN):c.9493+5G>A	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	VCAN-related disorder	GUncertain significance
Select item 259378	NM_004385.5(VCAN):c.9630C>T (p.His3210=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

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