ClinVar for MedGen (Select 777109) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382910	NM_001369268.1(ACAN):c.2858dup (p.Asp953fs)	ACAN (D953fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia, Kimberley type +2 more	GLikely pathogenic
Select item 3376138	NM_001369268.1(ACAN):c.1496_1531dup (p.Pro510_Glu511insAlaCysLeuArgThrGlyAlaValIleAlaSerPro)	ACAN	Duplication	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 3342274	NM_001369268.1(ACAN):c.2112dup (p.Val705fs)	ACAN (V705fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 3338233	NM_001369268.1(ACAN):c.2972A>G (p.Asp991Gly)	ACAN (D991G)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GBenign
Select item 3338044	NM_001369268.1(ACAN):c.2536_2537delinsA (p.Pro846fs)	ACAN (P846fs)	Indel (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
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 3065588	NM_001369268.1(ACAN):c.4787TGG[1] (p.Val1597del)	ACAN (V1597del)	Microsatellite (inframe_deletion)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 2671894	NM_001369268.1(ACAN):c.1429+1G>C	ACAN	Single nucleotide variant (splice donor variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 2628371	NM_001369268.1(ACAN):c.6828dup (p.Ala2277fs)	ACAN (A2277fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 2572622	NM_001369268.1(ACAN):c.905T>C (p.Leu302Pro)	ACAN (L302P)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 2572596	NM_001369268.1(ACAN):c.5766T>G (p.Tyr1922Ter)	ACAN (Y1922*)	Single nucleotide variant (nonsense)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 2572529	NM_001369268.1(ACAN):c.132del (p.Thr45fs)	ACAN (T45fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 2506425	NM_001369268.1(ACAN):c.6232del (p.Asp2078fs)	ACAN (D2078fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 2506423	NM_001369268.1(ACAN):c.6679C>T (p.Gln2227Ter)	ACAN (Q2227*)	Single nucleotide variant (nonsense)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 2505541	NM_001369268.1(ACAN):c.4903G>A (p.Gly1635Arg)	ACAN (G1635R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505372	NM_001369268.1(ACAN):c.757+1G>A	ACAN	Single nucleotide variant (splice donor variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 2438824	NM_001369268.1(ACAN):c.2836_2892del (p.Gly946_Glu964del)	ACAN	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 2431614	NM_001369268.1(ACAN):c.386G>A (p.Gly129Glu)	ACAN (G129E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2431583	NM_001369268.1(ACAN):c.4328C>G (p.Pro1443Arg)	ACAN (P1443R)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 2412821	NM_001369268.1(ACAN):c.5674C>T (p.Pro1892Ser)	ACAN (P1892S)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 1992362	NM_001369268.1(ACAN):c.2002dup (p.Arg668fs)	ACAN (R668fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 1810749	NM_001369268.1(ACAN):c.7344del (p.Phe2448fs)	ACAN (F2448fs +2 more)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 1709955	NM_001369268.1(ACAN):c.919G>A (p.Val307Met)	ACAN (V307M)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 1709437	NM_001369268.1(ACAN):c.5858del (p.Glu1953fs)	ACAN (E1953fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 1705389	NM_001369268.1(ACAN):c.2783G>A (p.Trp928Ter)	ACAN (W928*)	Single nucleotide variant (nonsense)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 1691680	Single allele		Deletion	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 1691679	Single allele		Deletion	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain risk allele
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 1687628	Single allele		Duplication	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 1687107	Single allele		Deletion	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 1685497	NM_001369268.1(ACAN):c.4474del (p.Ser1492fs)	ACAN (S1492fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 1683567	NM_001369268.1(ACAN):c.1658dup (p.Gly554fs)	ACAN (G554fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
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 1679113	NM_001369268.1(ACAN):c.91G>T (p.Val31Phe)	ACAN (V31F)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 1526221	NM_001369268.1(ACAN):c.301C>T (p.Gln101Ter)	ACAN (Q101*)	Single nucleotide variant (nonsense)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
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 1342158	NM_001369268.1(ACAN):c.293_315del (p.Ser98fs)	ACAN (S98fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic
Select item 1339134	NM_001369268.1(ACAN):c.7430C>A (p.Thr2477Lys)	ACAN (T2401K +2 more)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 1332835	NM_001369268.1(ACAN):c.1605-2A>C	ACAN	Single nucleotide variant (splice acceptor variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or 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 1328253	NM_001369268.1(ACAN):c.2023C>T (p.Arg675Ter)	ACAN (R675*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 1188935	NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val)	ACAN (I2079V)	Single nucleotide variant (missense variant)	not provided +4 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 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 984387	NM_001369268.1(ACAN):c.4829del (p.Pro1610fs)	ACAN (P1610fs)	Deletion (frameshift variant)	Osteochondritis dissecans	GLikely pathogenic
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 440752	NM_001369268.1(ACAN):c.7204C>T (p.Gln2402Ter)	ACAN (Q2364* +2 more)	Single nucleotide variant (nonsense)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 440746	NM_001369268.1(ACAN):c.7178T>C (p.Leu2393Pro)	ACAN (L2355P +2 more)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
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 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 14306	NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met)	ACAN (V2379M +2 more)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GPathogenic
Select item 14305	NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn)	ACAN (D2343N +2 more)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +1 more	GLikely pathogenic

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Items: 81