ClinVar for MedGen (Select 10494) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332835	NM_001369268.1(ACAN):c.1605-2A>C	ACAN	Single nucleotide variant (splice acceptor variant)	Osteochondritis dissecans +1 more	GPathogenic
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 1321150	NM_001369268.1(ACAN):c.6049G>T (p.Glu2017Ter)	ACAN (E2017*)	Single nucleotide variant (nonsense)	Osteochondritis dissecans	GPathogenic
Select item 1299235	NM_001369268.1(ACAN):c.6535A>G (p.Thr2179Ala)	ACAN (T2179A)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 1199200	NM_001369268.1(ACAN):c.1552_1556del (p.Glu518fs)	ACAN (E518fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1189835	NM_001369268.1(ACAN):c.492C>A (p.Tyr164Ter)	ACAN (Y164*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1188996	NM_001369268.1(ACAN):c.7303-110T>G	ACAN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188995	NM_001369268.1(ACAN):c.6780T>G (p.Ala2260=)	ACAN	Single nucleotide variant (synonymous variant)	Osteochondritis dissecans +3 more	GBenign
Select item 1188994	NM_001369268.1(ACAN):c.6423T>C (p.Leu2141=)	ACAN	Single nucleotide variant (synonymous variant)	Osteochondritis dissecans +2 more	GBenign
Select item 1188935	NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val)	ACAN (I2079V)	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 1188934	NM_001369268.1(ACAN):c.5799T>G (p.Thr1933=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1188933	NM_001369268.1(ACAN):c.5293A>G (p.Ile1765Val)	ACAN (I1765V)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +3 more	GBenign
Select item 1188932	NM_001369268.1(ACAN):c.3294C>T (p.Thr1098=)	ACAN	Single nucleotide variant (synonymous variant)	Osteochondritis dissecans +3 more	GBenign
Select item 1188887	NM_001369268.1(ACAN):c.3009C>T (p.Thr1003=)	ACAN	Single nucleotide variant (synonymous variant)	Osteochondritis dissecans +3 more	GBenign
Select item 1188886	NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile)	ACAN (S930I)	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 1188885	NM_001369268.1(ACAN):c.2514G>A (p.Ser838=)	ACAN	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +3 more	GBenign
Select item 1188850	NM_001369268.1(ACAN):c.7631-7G>A	ACAN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188849	NM_001369268.1(ACAN):c.1623C>A (p.Pro541=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1188848	NM_001369268.1(ACAN):c.1430-40G>A	ACAN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188847	NM_001369268.1(ACAN):c.758-37del	ACAN	Deletion (intron variant)	not provided +3 more	GBenign
Select item 1181962	NM_001369268.1(ACAN):c.2289C>T (p.Pro763=)	ACAN	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GBenign
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
Select item 1174779	NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala)	ACAN (T1403A)	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 1173072	NM_001369268.1(ACAN):c.736T>G (p.Cys246Gly)	ACAN (C246G)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 1172552	NM_001369268.1(ACAN):c.613_616dup (p.Asp206delinsGlyTer)	ACAN	Microsatellite (nonsense)	Osteochondritis dissecans	GLikely pathogenic
Select item 1172551	NM_001369268.1(ACAN):c.600C>G (p.Asp200Glu)	ACAN (D200E)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 1172550	NM_001369268.1(ACAN):c.955G>A (p.Gly319Ser)	ACAN (G319S)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 1034409	NM_001369268.1(ACAN):c.6308C>T (p.Thr2103Met)	ACAN (T2103M)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 1034407	NM_001369268.1(ACAN):c.1015G>A (p.Asp339Asn)	ACAN (D339N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 998051	NM_001369268.1(ACAN):c.1120_1123del (p.Gln373_Thr374insTer)	ACAN	Deletion (nonsense)	Osteochondritis dissecans	GLikely pathogenic
Select item 997996	NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter)	ACAN (K621*)	Single nucleotide variant (nonsense)	Osteochondritis dissecans	GPathogenic
Select item 997994	NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs)	ACAN (D629fs)	Microsatellite (frameshift variant)	Osteochondritis dissecans	GPathogenic
Select item 997448	NM_001369268.1(ACAN):c.4844del (p.Gly1615fs)	ACAN (G1615fs)	Deletion (frameshift variant)	Osteochondritis dissecans	GPathogenic
Select item 984387	NM_001369268.1(ACAN):c.4829del (p.Pro1610fs)	ACAN (P1610fs)	Deletion (frameshift variant)	Osteochondritis dissecans	GLikely pathogenic
Select item 976161	NM_001369268.1(ACAN):c.221dup (p.Trp75fs)	ACAN (W75fs)	Duplication (frameshift variant)	Osteochondritis dissecans	GLikely pathogenic
Select item 976069	NM_001369268.1(ACAN):c.962A>G (p.Asn321Ser)	ACAN (N321S)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 976016	NM_001369268.1(ACAN):c.2153C>A (p.Thr718Lys)	ACAN (T718K)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 975885	NM_001369268.1(ACAN):c.130G>A (p.Gly44Arg)	ACAN (G44R)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 975866	NM_001369268.1(ACAN):c.7327C>A (p.Gln2443Lys)	ACAN (Q2367K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 873431	NM_001369268.1(ACAN):c.1955C>T (p.Thr652Met)	ACAN (T652M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 803118	NM_001369268.1(ACAN):c.2541del (p.Val848fs)	ACAN (V848fs)	Deletion (frameshift variant)	Osteochondritis dissecans	GPathogenic
Select item 803117	NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys)	ACAN (R305C)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +1 more	GLikely benign
Select item 803116	NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln)	ACAN (R275Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GBenign
Select item 635418	NM_001369268.1(ACAN):c.-7-2A>T	ACAN	Single nucleotide variant (splice acceptor variant)	Osteochondritis dissecans	GLikely pathogenic
Select item 446080	NM_001369268.1(ACAN):c.230G>A (p.Arg77His)	ACAN (R77H)	Single nucleotide variant (missense variant)	ACAN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 444004	NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn)	ACAN (I398N)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +1 more	GUncertain significance
Select item 284980	NM_001369268.1(ACAN):c.1809T>C (p.Ala603=)	ACAN	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia, Kimberley type +4 more	GBenign
Select item 283836	NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala)	ACAN (E1508A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 252934	NM_001369268.1(ACAN):c.7358A>T (p.Asp2453Val)	ACAN (D2415V +2 more)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance

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Items: 50