"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1167698	NM_004385.5(VCAN):c.1400C>T (p.Ser467Phe)	VCAN (S467F)	Single nucleotide variant (missense variant +1 more)	VCAN-related condition +1 more	GBenign
Select item 354398	NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn)	VCAN (I508N)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +2 more	GBenign/Likely benign
Select item 354400	NM_004385.5(VCAN):c.1895C>T (p.Thr632Met)	VCAN (T632M)	Single nucleotide variant (intron variant +1 more)	Wagner syndrome +3 more	GBenign/Likely benign
Select item 354401	NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)	VCAN (P644L)	Single nucleotide variant (missense variant +1 more)	not provided +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 condition +1 more	GBenign
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 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 1164558	NM_004385.5(VCAN):c.3076A>G (p.Ile1026Val)	VCAN (I1026V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 21407	NM_004385.5(VCAN):c.4004-5T>C	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 167821	NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)	VCAN, VCAN-AS1 (E1535G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
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 198801	NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)	VCAN, VCAN-AS1 (F2301C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 354440	NM_004385.5(VCAN):c.7419C>T (p.Ser2473=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +2 more	GBenign/Likely benign
Select item 354444	NM_004385.5(VCAN):c.7551C>T (p.Asp2517=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Vitreoretinopathy +2 more	GBenign/Likely benign
Select item 354445	NM_004385.5(VCAN):c.7581C>T (p.Phe2527=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 198806	NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val)	VCAN, VCAN-AS1 (A2874V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 259376	NM_004385.5(VCAN):c.9234G>A (p.Glu3078=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign