"GeneDx"[submitter] AND "ACAN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 1286833	NM_001369268.1(ACAN):c.-7-300G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250552	NM_001369268.1(ACAN):c.-7-136G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386704	NM_001369268.1(ACAN):c.3G>A (p.Met1Ile)	ACAN (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578195	NM_001369268.1(ACAN):c.17G>A (p.Trp6Ter)	ACAN (W6*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1317033	NM_001369268.1(ACAN):c.50C>T (p.Ala17Val)	ACAN (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264293	NM_001369268.1(ACAN):c.71-189del	ACAN	Deletion (intron variant)	not provided	GBenign
Select item 1261820	NM_001369268.1(ACAN):c.71-187G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284706	NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)	ACAN (T62N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452086	NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr)	ACAN (A67T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 446080	NM_001369268.1(ACAN):c.230G>A (p.Arg77His)	ACAN (R77H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2578193	NM_001369268.1(ACAN):c.274G>A (p.Gly92Arg)	ACAN (G92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1703305	NM_001369268.1(ACAN):c.346G>C (p.Ala116Pro)	ACAN (A116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1700881	NM_001369268.1(ACAN):c.454G>A (p.Gly152Ser)	ACAN (G152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178802	NM_001369268.1(ACAN):c.454+107G>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234661	NM_001369268.1(ACAN):c.454+206C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293766	NM_001369268.1(ACAN):c.454+257G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251275	NM_001369268.1(ACAN):c.455-237T>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251039	NM_001369268.1(ACAN):c.455-199T>C	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276102	NM_001369268.1(ACAN):c.455-70C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
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 546313	NM_001369268.1(ACAN):c.512C>T (p.Ala171Val)	ACAN (A171V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2421000	NM_001369268.1(ACAN):c.623C>T (p.Thr208Ile)	ACAN (T208I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241689	NM_001369268.1(ACAN):c.629+77G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235400	NM_001369268.1(ACAN):c.629+246C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290453	NM_001369268.1(ACAN):c.630-238dup	ACAN	Duplication (intron variant)	not provided	GBenign
Select item 1250300	NM_001369268.1(ACAN):c.630-237T>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247768	NM_001369268.1(ACAN):c.630-237del	ACAN	Deletion (intron variant)	not provided	GBenign
Select item 1227072	NM_001369268.1(ACAN):c.630-130T>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268441	NM_001369268.1(ACAN):c.630-23C>T	ACAN	Single nucleotide variant (intron variant)	not provided	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 1202455	NM_001369268.1(ACAN):c.757+127C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188847	NM_001369268.1(ACAN):c.758-37del	ACAN	Deletion (intron variant)	not provided +3 more	GBenign
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 388928	NM_001369268.1(ACAN):c.898G>A (p.Gly300Ser)	ACAN (G300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386685	NM_001369268.1(ACAN):c.1013C>T (p.Pro338Leu)	ACAN (P338L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1223111	NM_001369268.1(ACAN):c.1051+219C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221026	NM_001369268.1(ACAN):c.1052-336A>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274543	NM_001369268.1(ACAN):c.1052-228C>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241675	NM_001369268.1(ACAN):c.1052-90G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662088	NM_001369268.1(ACAN):c.1080C>A (p.Asn360Lys)	ACAN (N360K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430690	NM_001369268.1(ACAN):c.1145T>C (p.Leu382Pro)	ACAN (L382P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817500	NM_001369268.1(ACAN):c.1172del (p.Gly391fs)	ACAN (G391fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 620084	NM_001369268.1(ACAN):c.1243G>T (p.Glu415Ter)	ACAN (E415*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2430544	NM_001369268.1(ACAN):c.1411C>A (p.Gln471Lys)	ACAN (Q471K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231993	NM_001369268.1(ACAN):c.1429+286G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251852	NM_001369268.1(ACAN):c.1430-231G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186103	NM_001369268.1(ACAN):c.1430-123T>C	ACAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247046	NM_001369268.1(ACAN):c.1430-52A>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222861	NM_001369268.1(ACAN):c.1430-50G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264920	NM_001369268.1(ACAN):c.1430-41C>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278354	NM_001369268.1(ACAN):c.1430-40G>T	ACAN	Single nucleotide variant (intron variant)	not provided	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 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 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 284347	NM_001369268.1(ACAN):c.1515G>A (p.Ala505=)	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 2786352	NM_001369268.1(ACAN):c.1558G>A (p.Gly520Ser)	ACAN (G520S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580526	NM_001369268.1(ACAN):c.1584G>C (p.Trp528Cys)	ACAN (W528C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320548	NM_001369268.1(ACAN):c.1586T>C (p.Leu529Pro)	ACAN (L529P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258205	NM_001369268.1(ACAN):c.1605-160A>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293759	NM_001369268.1(ACAN):c.1605-128G>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289886	NM_001369268.1(ACAN):c.1605-90C>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
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 1318755	NM_001369268.1(ACAN):c.1732G>C (p.Gly578Arg)	ACAN (G578R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1242517	NM_001369268.1(ACAN):c.1732+109T>C	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250110	NM_001369268.1(ACAN):c.1732+209T>C	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239510	NM_001369268.1(ACAN):c.1732+278A>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266902	NM_001369268.1(ACAN):c.1732+312C>A	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221330	NM_001369268.1(ACAN):c.1733-296C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277945	NM_001369268.1(ACAN):c.1733-271A>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290911	NM_001369268.1(ACAN):c.1733-267A>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214574	NM_001369268.1(ACAN):c.1733-87G>C	ACAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1206324	NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr)	ACAN (A628T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2662984	NM_001369268.1(ACAN):c.1975C>T (p.Gln659Ter)	ACAN (Q659*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1320541	NM_001369268.1(ACAN):c.2018G>A (p.Cys673Tyr)	ACAN (C673Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318825	NM_001369268.1(ACAN):c.2066G>A (p.Gly689Asp)	ACAN (G689D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316270	NM_001369268.1(ACAN):c.2218A>T (p.Thr740Ser)	ACAN (T740S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208682	NM_001369268.1(ACAN):c.2228A>T (p.Glu743Val)	ACAN (E743V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1271305	NM_001369268.1(ACAN):c.2267-257C>T	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293756	NM_001369268.1(ACAN):c.2267-256A>G	ACAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236388	NM_001369268.1(ACAN):c.2267-140G>C	ACAN	Single nucleotide variant (intron variant)	not provided	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 1318983	NM_001369268.1(ACAN):c.2483A>G (p.Glu828Gly)	ACAN (E828G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 389254	NM_001369268.1(ACAN):c.2572G>A (p.Gly858Arg)	ACAN (G858R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1188887	NM_001369268.1(ACAN):c.3009C>T (p.Thr1003=)	ACAN	Single nucleotide variant (synonymous variant)	not provided +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

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