ClinVar for Gene (Select 48) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 123

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261793	NM_002197.3(ACO1):c.1455C>G (p.Ser485Arg)	ACO1 (S485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261791	NM_002197.3(ACO1):c.237G>T (p.Lys79Asn)	ACO1 (K79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137181	NM_002197.3(ACO1):c.974G>A (p.Arg325His)	ACO1 (R325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137167	NM_002197.3(ACO1):c.805C>T (p.Arg269Cys)	ACO1 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137163	NM_002197.3(ACO1):c.787A>T (p.Thr263Ser)	ACO1 (T263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137158	NM_002197.3(ACO1):c.503G>A (p.Arg168Gln)	ACO1 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137154	NM_002197.3(ACO1):c.346C>G (p.Pro116Ala)	ACO1 (P116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137139	NM_002197.3(ACO1):c.2515A>C (p.Ile839Leu)	ACO1 (I839L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137132	NM_002197.3(ACO1):c.2501G>A (p.Arg834Gln)	ACO1 (R834Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137127	NM_002197.3(ACO1):c.2495A>G (p.Gln832Arg)	ACO1 (Q832R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137124	NM_002197.3(ACO1):c.2491G>C (p.Gly831Arg)	ACO1 (G831R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137120	NM_002197.3(ACO1):c.2488A>C (p.Thr830Pro)	ACO1 (T830P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137116	NM_002197.3(ACO1):c.244C>T (p.Arg82Cys)	ACO1 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137093	NM_002197.3(ACO1):c.2068A>G (p.Ser690Gly)	ACO1 (S690G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137087	NM_002197.3(ACO1):c.2034C>G (p.Asp678Glu)	ACO1 (D678E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137077	NM_002197.3(ACO1):c.1592T>C (p.Val531Ala)	ACO1 (V531A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137073	NM_002197.3(ACO1):c.1520T>C (p.Ile507Thr)	ACO1 (I507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137039	NM_002197.3(ACO1):c.1015G>T (p.Ala339Ser)	ACO1 (A339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137036	NM_002197.3(ACO1):c.100C>T (p.Arg34Cys)	ACO1 (R34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2618608	NM_002197.3(ACO1):c.838T>C (p.Phe280Leu)	ACO1 (F280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548230	NM_002197.3(ACO1):c.2515A>G (p.Ile839Val)	ACO1 (I839V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544870	NM_002197.3(ACO1):c.98G>A (p.Gly33Glu)	ACO1 (G33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542133	NM_002197.3(ACO1):c.2081G>A (p.Arg694His)	ACO1 (R694H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526011	NM_002197.3(ACO1):c.1204T>C (p.Phe402Leu)	ACO1 (F402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495561	NM_002197.3(ACO1):c.764T>G (p.Val255Gly)	ACO1 (V255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494698	NM_002197.3(ACO1):c.806G>T (p.Arg269Leu)	ACO1 (R269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494635	NM_002197.3(ACO1):c.2648T>G (p.Met883Arg)	ACO1 (M883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483742	NM_002197.3(ACO1):c.1378G>A (p.Gly460Ser)	ACO1 (G460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462536	NM_002197.3(ACO1):c.2654G>A (p.Arg885His)	ACO1 (R885H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460390	NM_002197.3(ACO1):c.593C>T (p.Pro198Leu)	ACO1 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459775	NM_002197.3(ACO1):c.2149G>A (p.Ala717Thr)	ACO1 (A717T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412201	NM_002197.3(ACO1):c.604G>A (p.Val202Met)	ACO1 (V202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380186	NM_002197.3(ACO1):c.1055A>G (p.Asp352Gly)	ACO1 (D352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353303	NM_002197.3(ACO1):c.988T>A (p.Leu330Ile)	ACO1 (L330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349404	NM_002197.3(ACO1):c.509T>C (p.Ile170Thr)	ACO1 (I170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335224	NM_002197.3(ACO1):c.1250A>T (p.Tyr417Phe)	ACO1 (Y417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329847	NM_002197.3(ACO1):c.600C>G (p.Ser200Arg)	ACO1 (S200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316479	NM_002197.3(ACO1):c.865T>C (p.Ser289Pro)	ACO1 (S289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313210	NM_002197.3(ACO1):c.857C>T (p.Ala286Val)	ACO1 (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305077	NM_002197.3(ACO1):c.1492G>A (p.Val498Met)	ACO1 (V498M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297498	NM_002197.3(ACO1):c.224A>G (p.Glu75Gly)	ACO1 (E75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286963	NM_002197.3(ACO1):c.1226A>T (p.His409Leu)	ACO1 (H409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275509	NM_002197.3(ACO1):c.2135G>A (p.Arg712His)	ACO1 (R712H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266159	NM_002197.3(ACO1):c.1189C>G (p.Gln397Glu)	ACO1 (Q397E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265640	NM_002197.3(ACO1):c.1261G>A (p.Glu421Lys)	ACO1 (E421K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263418	NM_002197.3(ACO1):c.2654G>C (p.Arg885Pro)	ACO1 (R885P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250436	NM_002197.3(ACO1):c.2183G>A (p.Arg728His)	ACO1 (R728H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237842	NM_002197.3(ACO1):c.2111G>A (p.Arg704Gln)	ACO1 (R704Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235298	NM_002197.3(ACO1):c.2354A>G (p.Lys785Arg)	ACO1 (K785R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225861	NM_002197.3(ACO1):c.1226A>G (p.His409Arg)	ACO1 (H409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216795	NM_002197.3(ACO1):c.1994C>T (p.Ala665Val)	ACO1 (A665V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2204452	NM_002197.3(ACO1):c.2650A>G (p.Ile884Val)	ACO1 (I884V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1024707	NC_000009.11:g.(?_32399559)_(33541225_?)dup	ACO1, ANKRD18B +16 more	Duplication	not provided	GUncertain significance
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 786905	NM_002197.3(ACO1):c.1707C>T (p.Asp569=)	ACO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786904	NM_002197.3(ACO1):c.756C>T (p.His252=)	ACO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741056	NM_002197.3(ACO1):c.954G>A (p.Thr318=)	ACO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732276	NM_002197.3(ACO1):c.1329G>A (p.Pro443=)	ACO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713515	NM_002197.3(ACO1):c.2382C>T (p.Ala794=)	ACO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2