"GeneDx"[submitter] AND "VCAN-AS1"[gene] - ClinVar

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Items: 31

	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 1312732	NM_004385.5(VCAN):c.4146C>A (p.Asp1382Glu)	VCAN, VCAN-AS1 (D1382E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 167820	NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg)	VCAN, VCAN-AS1 (K1516R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 1310562	NM_004385.5(VCAN):c.4874G>A (p.Arg1625Lys)	VCAN, VCAN-AS1 (R1625K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	not provided +3 more	GBenign
Select item 1313351	NM_004385.5(VCAN):c.5666C>T (p.Thr1889Ile)	VCAN, VCAN-AS1 (T1889I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700878	NM_004385.5(VCAN):c.5705C>T (p.Thr1902Ile)	VCAN, VCAN-AS1 (T1902I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2006493	NM_004385.5(VCAN):c.6854C>A (p.Pro2285His)	VCAN, VCAN-AS1 (P1298H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 354437	NM_004385.5(VCAN):c.7030C>T (p.Pro2344Ser)	VCAN, VCAN-AS1 (P2344S +1 more)	Single nucleotide variant (intron variant +1 more)	Wagner syndrome +2 more	GBenign
Select item 354455	NM_004385.5(VCAN):c.8090G>A (p.Arg2697His)	VCAN, VCAN-AS1 (R2697H +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GBenign
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 1377861	NM_004385.5(VCAN):c.8676A>C (p.Leu2892Phe)	VCAN, VCAN-AS1 (L2892F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 1246547	NM_004385.5(VCAN):c.9266-129T>A	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1288841	NM_004385.5(VCAN):c.9380-181G>A	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277410	NM_004385.5(VCAN):c.9380-78_9380-76dup	VCAN, VCAN-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1995112	NM_004385.5(VCAN):c.9443C>A (p.Thr3148Lys)	VCAN, VCAN-AS1 (T2161K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288880	NM_004385.5(VCAN):c.9494-63T>A	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 1704980	NM_004385.5(VCAN):c.9631G>A (p.Glu3211Lys)	VCAN, VCAN-AS1 (E1457K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281776	NM_004385.5(VCAN):c.9653-188C>T	LOC126807443, VCAN +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241180	NM_004385.5(VCAN):c.9653-144A>G	LOC126807443, VCAN +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 31