"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790874	NM_001369268.1(ACAN):c.204A>C (p.Pro68=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1328278	NM_001369268.1(ACAN):c.229C>T (p.Arg77Cys)	ACAN (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 446080	NM_001369268.1(ACAN):c.230G>A (p.Arg77His)	ACAN (R77H)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +3 more	GConflicting classifications of pathogenicity
Select item 1206411	NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu)	ACAN (D102E)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 782009	NM_001369268.1(ACAN):c.582C>T (p.Asp194=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1328370	NM_001369268.1(ACAN):c.650G>A (p.Arg217Gln)	ACAN (R217Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206168	NM_001369268.1(ACAN):c.1051+9C>T	ACAN	Single nucleotide variant (intron variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 1206050	NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val)	ACAN (I404V)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 1206376	NM_001369268.1(ACAN):c.1221C>T (p.Val407=)	ACAN	Single nucleotide variant (synonymous variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 623875	NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu)	ACAN (F456L)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 1328316	NM_001369268.1(ACAN):c.1415C>T (p.Pro472Leu)	ACAN (P472L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1205871	NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu)	ACAN (S490L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +3 more	GBenign/Likely benign
Select item 1297739	NM_001369268.1(ACAN):c.1507A>T (p.Thr503Ser)	ACAN (T503S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 726340	NM_001369268.1(ACAN):c.1575C>T (p.Asp525=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328336	NM_001369268.1(ACAN):c.1608C>A (p.Tyr536Ter)	ACAN (Y536*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1206136	NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser)	ACAN (R585S)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 1206324	NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr)	ACAN (A628T)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 1174760	NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr)	ACAN (S939T)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +3 more	GBenign
Select item 1206095	NM_001369268.1(ACAN):c.4864A>G (p.Thr1622Ala)	ACAN (T1622A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1206188	NM_001369268.1(ACAN):c.5147G>T (p.Ser1716Ile)	ACAN (S1716I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1328280	NM_001369268.1(ACAN):c.5419G>A (p.Gly1807Arg)	ACAN (G1807R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328302	NM_001369268.1(ACAN):c.5539G>T (p.Glu1847Ter)	ACAN (E1847*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1206089	NM_001369268.1(ACAN):c.5800G>C (p.Val1934Leu)	ACAN (V1934L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768723	NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=)	ACAN	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +3 more	GBenign/Likely benign
Select item 287741	NM_001369268.1(ACAN):c.6113C>T (p.Thr2038Ile)	ACAN (T2038I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +1 more	GUncertain significance
Select item 1205897	NM_001369268.1(ACAN):c.7073G>A (p.Cys2358Tyr)	ACAN (C2282Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205903	NM_001369268.1(ACAN):c.7197C>T (p.Pro2399=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1098867	NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu)	ACAN (D2335E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1328266	NM_001369268.1(ACAN):c.7389C>T (p.Gly2463=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 283854	NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=)	ACAN	Single nucleotide variant (synonymous variant +1 more)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +4 more	GBenign/Likely benign
Select item 1174934	NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg)	ACAN (Q2500R +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, aggrecan type +3 more	GBenign

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Items: 31