ClinVar for MedGen (Select 330777) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235896	NM_001369268.1(ACAN):c.6993C>A (p.Cys2331Ter)	ACAN (C2293* +1 more)	Single nucleotide variant (nonsense +1 more)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +1 more	GLikely pathogenic
Select item 2645677	NM_001369268.1(ACAN):c.4525C>T (p.Leu1509Phe)	ACAN (L1509F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type +1 more	GLikely benign
Select item 1691109	NM_001369268.1(ACAN):c.7499A>G (p.Lys2500Arg)	ACAN (K2462R +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepiphyseal dysplasia, Kimberley type +2 more	GBenign
Select item 1691108	NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu)	ACAN (F2297L +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +2 more	GBenign
Select item 1691107	NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu)	ACAN (D1390E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1679571	NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala)	ACAN (P847A)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +2 more	GUncertain significance
Select item 1367485	NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln)	ACAN (R279Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GUncertain significance
Select item 1293770	NM_001369268.1(ACAN):c.1476C>G (p.Thr492=)	ACAN	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +3 more	GBenign
Select item 1286962	NM_001369268.1(ACAN):c.3180C>T (p.Thr1060=)	ACAN	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GBenign
Select item 1263931	NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr)	ACAN (P913T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GBenign
Select item 1247326	NM_001369268.1(ACAN):c.757+53T>G	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 1229794	NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu)	ACAN (P864L)	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 1214370	NM_001369268.1(ACAN):c.1051+10G>A	ACAN	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +3 more	GBenign/Likely benign
Select item 1206411	NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu)	ACAN (D102E)	Single nucleotide variant (missense variant)	not provided +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 1206324	NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr)	ACAN (A628T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1206168	NM_001369268.1(ACAN):c.1051+9C>T	ACAN	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GBenign
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 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 1205871	NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu)	ACAN (S490L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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)	not provided +3 more	GBenign
Select item 1188994	NM_001369268.1(ACAN):c.6423T>C (p.Leu2141=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1188935	NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val)	ACAN (I2079V)	Single nucleotide variant (missense variant)	not provided +4 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)	not provided +3 more	GBenign
Select item 1188932	NM_001369268.1(ACAN):c.3294C>T (p.Thr1098=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1188887	NM_001369268.1(ACAN):c.3009C>T (p.Thr1003=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1188886	NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile)	ACAN (S930I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1188885	NM_001369268.1(ACAN):c.2514G>A (p.Ser838=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +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)	Spondyloepimetaphyseal dysplasia, aggrecan type +4 more	GBenign
Select item 1174760	NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr)	ACAN (S939T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type +4 more	GBenign
Select item 975931	NM_001369268.1(ACAN):c.262G>A (p.Val88Met)	ACAN (V88M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type	GUncertain significance
Select item 803116	NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln)	ACAN (R275Q)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +3 more	GBenign
Select item 790874	NM_001369268.1(ACAN):c.204A>C (p.Pro68=)	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 788898	NM_001369268.1(ACAN):c.2247G>A (p.Val749=)	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/Likely benign
Select item 786631	NM_001369268.1(ACAN):c.1719A>G (p.Val573=)	ACAN	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GBenign
Select item 779449	NM_001369268.1(ACAN):c.1398C>T (p.Thr466=)	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 774946	NM_001369268.1(ACAN):c.438G>A (p.Leu146=)	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/Likely benign
Select item 768723	NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=)	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/Likely benign
Select item 725346	NM_001369268.1(ACAN):c.7451C>T (p.Ala2484Val)	ACAN (A2446V +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepiphyseal dysplasia, Kimberley type +3 more	GLikely benign
Select item 623875	NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu)	ACAN (F456L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 291234	NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 287638	NM_001369268.1(ACAN):c.186C>T (p.Thr62=)	ACAN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 284980	NM_001369268.1(ACAN):c.1809T>C (p.Ala603=)	ACAN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 284347	NM_001369268.1(ACAN):c.1515G>A (p.Ala505=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 284346	NM_001369268.1(ACAN):c.1850G>A (p.Arg617His)	ACAN (R617H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 284340	NM_001369268.1(ACAN):c.1866C>T (p.Cys622=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 284338	NM_001369268.1(ACAN):c.1530G>A (p.Pro510=)	ACAN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 283926	NM_001369268.1(ACAN):c.2037G>A (p.Ala679=)	ACAN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 283854	NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=)	ACAN	Single nucleotide variant (synonymous variant +1 more)	Spondyloepiphyseal dysplasia, Kimberley type +4 more	GBenign/Likely benign
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 14304	NM_001369268.1(ACAN):c.3758dup (p.Gly1254fs)	ACAN (G1254fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia, Kimberley type	GPathogenic

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Items: 60