ACO2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC125446244, LOC130067573 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1301231	NM_032758.4(PHF5A):c.11A>G (p.His4Arg)	ACO2, PHF5A (H4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677692	NM_001098.2(ACO2):c.-118G>C	ACO2	Single nucleotide variant	not provided	GLikely benign
Select item 1489215	NM_001098.3(ACO2):c.5C>T (p.Ala2Val)	ACO2 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518285	NM_001098.3(ACO2):c.7C>T (p.Pro3Ser)	ACO2 (P3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799389	NM_001098.3(ACO2):c.9C>T (p.Pro3=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079369	NM_001098.3(ACO2):c.16C>T (p.Leu6=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106339	NM_001098.3(ACO2):c.19C>G (p.Leu7Val)	ACO2 (L7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908971	NM_001098.3(ACO2):c.21G>A (p.Leu7=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1019555	NM_001098.3(ACO2):c.26C>T (p.Thr9Ile)	ACO2 (T9I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744860	NM_001098.3(ACO2):c.31C>T (p.Leu11=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 430056	NM_001098.3(ACO2):c.34C>T (p.Gln12Ter)	ACO2 (Q12*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2506954	NM_001098.3(ACO2):c.36G>A (p.Gln12=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9	GLikely pathogenic
Select item 2073456	NM_001098.3(ACO2):c.36+2T>A	ACO2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1953354	NM_001098.3(ACO2):c.36+3G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1944811	NM_001098.3(ACO2):c.36+7G>C	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921560	NM_001098.3(ACO2):c.36+12C>G	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549214	NM_001098.3(ACO2):c.36+13A>G	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126703	NM_001098.3(ACO2):c.36+18C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933564	NM_001098.3(ACO2):c.36+18C>A	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958604	NM_001098.3(ACO2):c.36+20T>C	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252576	NM_001098.3(ACO2):c.36+148G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273288	NM_001098.3(ACO2):c.37-321G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990866	NM_001098.3(ACO2):c.52C>T (p.Arg18Trp)	ACO2 (R18W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471011	NM_001098.3(ACO2):c.53G>A (p.Arg18Gln)	ACO2 (R18Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980324	NM_001098.3(ACO2):c.60C>T (p.Tyr20=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922288	NM_001098.3(ACO2):c.63T>C (p.His21=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 257431	NM_001098.3(ACO2):c.72A>G (p.Ser24=)	ACO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 809374	NM_001098.3(ACO2):c.74_82del (p.Val25_Gln28delinsGlu)	ACO2	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2053503	NM_001098.3(ACO2):c.75_76delinsTT (p.Val25_Leu26=)	ACO2	Indel (synonymous variant)	not provided	GUncertain significance
Select item 374009	NM_001098.3(ACO2):c.75C>T (p.Val25=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9 +5 more	GUncertain significance
Select item 374008	NM_001098.3(ACO2):c.76C>T (p.Leu26=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9 +6 more	GConflicting classifications of pathogenicity
Select item 257432	NM_001098.3(ACO2):c.84A>G (p.Gln28=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2716042	NM_001098.3(ACO2):c.86G>A (p.Arg29Gln)	ACO2 (R29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469650	NM_001098.3(ACO2):c.86G>C (p.Arg29Pro)	ACO2 (R29P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492809	NM_001098.3(ACO2):c.89C>T (p.Ala30Val)	ACO2 (A30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009819	NM_001098.3(ACO2):c.90C>A (p.Ala30=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426152	NM_001098.3(ACO2):c.98C>T (p.Ala33Val)	ACO2 (A33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605804	NM_001098.3(ACO2):c.99G>A (p.Ala33=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878536	NM_001098.3(ACO2):c.104G>C (p.Ser35Thr)	ACO2 (S35T)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration	GUncertain significance
Select item 2972624	NM_001098.3(ACO2):c.108C>T (p.His36=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1117273	NM_001098.3(ACO2):c.117C>G (p.Pro39=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377424	NM_001098.3(ACO2):c.120C>T (p.Asn40=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1995154	NM_001098.3(ACO2):c.121G>A (p.Glu41Lys)	ACO2 (E41K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264756	NM_001098.3(ACO2):c.123G>T (p.Glu41Asp)	ACO2 (E41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1931780	NM_001098.3(ACO2):c.133T>C (p.Tyr45His)	ACO2 (Y45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043392	NM_001098.3(ACO2):c.135T>G (p.Tyr45Ter)	ACO2 (Y45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2728092	NM_001098.3(ACO2):c.145G>A (p.Glu49Lys)	ACO2 (E49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363391	NM_001098.3(ACO2):c.154A>C (p.Ile52Leu)	ACO2 (I52L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838835	NM_001098.3(ACO2):c.155T>C (p.Ile52Thr)	ACO2 (I52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389271	NM_001098.3(ACO2):c.161T>C (p.Ile54Thr)	ACO2 (I54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389810	NM_001098.3(ACO2):c.167G>A (p.Arg56His)	ACO2 (R56H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441075	NM_001098.3(ACO2):c.172C>T (p.Arg58Ter)	ACO2 (R58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2121820	NM_001098.3(ACO2):c.173G>A (p.Arg58Gln)	ACO2 (R58Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521202	NM_001098.3(ACO2):c.173+1G>T	ACO2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1012704	NM_001098.3(ACO2):c.173+4A>G	ACO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 710906	NM_001098.3(ACO2):c.173+10C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216884	NM_001098.3(ACO2):c.174-323C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188855	NM_001098.3(ACO2):c.174-52G>T	ACO2	Single nucleotide variant (intron variant)	Optic atrophy 9 +2 more	GBenign
Select item 1655710	NM_001098.3(ACO2):c.174-8C>A	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1121871	NM_001098.3(ACO2):c.174-5C>A	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1420765	NM_001098.3(ACO2):c.181C>T (p.Arg61Trp)	ACO2 (R61W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417846	NM_001098.3(ACO2):c.182G>A (p.Arg61Gln)	ACO2 (R61Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339927	NM_001098.3(ACO2):c.183G>A (p.Arg61=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 1810090	NM_001098.3(ACO2):c.185C>T (p.Pro62Leu)	ACO2 (P62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653617	NM_001098.3(ACO2):c.186G>A (p.Pro62=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128256	NM_001098.3(ACO2):c.192A>C (p.Thr64=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1967504	NM_001098.3(ACO2):c.197C>T (p.Ser66Leu)	ACO2 (S66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007103	NM_001098.3(ACO2):c.198G>A (p.Ser66=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021574	NM_001098.3(ACO2):c.203A>G (p.Lys68Arg)	ACO2 (K68R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142118	NM_001098.3(ACO2):c.210G>A (p.Val70=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405384	NM_001098.3(ACO2):c.212A>G (p.Tyr71Cys)	ACO2 (Y71C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035589	NM_001098.3(ACO2):c.219C>G (p.His73Gln)	ACO2 (H73Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189310	NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	ACO2 (L74V)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration +4 more	GConflicting classifications of pathogenicity
Select item 2990400	NM_001098.3(ACO2):c.230C>T (p.Pro77Leu)	ACO2 (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377425	NM_001098.3(ACO2):c.231C>T (p.Pro77=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1944437	NM_001098.3(ACO2):c.232G>A (p.Ala78Thr)	ACO2 (A78T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345652	NM_001098.3(ACO2):c.236G>C (p.Ser79Thr)	ACO2 (S79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104881	NM_001098.3(ACO2):c.237C>A (p.Ser79Arg)	ACO2 (S79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844771	NM_001098.3(ACO2):c.245T>C (p.Ile82Thr)	ACO2 (I82T)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration +1 more	GUncertain significance
Select item 972149	NM_001098.3(ACO2):c.249G>C (p.Glu83Asp)	ACO2 (E83D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64477	NM_001098.3(ACO2):c.250C>T (p.Arg84Ter)	ACO2 (R84*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2176547	NM_001098.3(ACO2):c.260C>T (p.Ser87Leu)	ACO2 (S87L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1924726	NM_001098.3(ACO2):c.261G>A (p.Ser87=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662233	NM_001098.3(ACO2):c.266TGCGGC[3] (p.Arg92_Pro93insLeuArg)	ACO2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2026168	NM_001098.3(ACO2):c.267_268delinsAA (p.Leu89_Arg90=)	ACO2	Indel (synonymous variant)	not provided	GUncertain significance
Select item 2958223	NM_001098.3(ACO2):c.268C>T (p.Arg90Trp)	ACO2 (R90W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937469	NM_001098.3(ACO2):c.269G>A (p.Arg90Gln)	ACO2 (R90Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860861	NM_001098.3(ACO2):c.274C>T (p.Arg92Trp)	ACO2 (R92W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123221	NM_001098.3(ACO2):c.275G>C (p.Arg92Pro)	ACO2 (R92P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 950038	NM_001098.3(ACO2):c.275G>A (p.Arg92Gln)	ACO2 (R92Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503024	NM_001098.3(ACO2):c.278C>T (p.Pro93Leu)	ACO2 (P93L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937191	NM_001098.3(ACO2):c.279G>A (p.Pro93=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 509931	NM_001098.3(ACO2):c.282C>T (p.Asp94=)	ACO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1641262	NM_001098.3(ACO2):c.285T>C (p.Arg95=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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