ClinVar for Gene (Select 26) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300000	NM_001091.4(AOC1):c.487C>T (p.His163Tyr)	AOC1 (H163Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299992	NM_001091.4(AOC1):c.503A>C (p.Asn168Thr)	AOC1 (N168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299984	NM_001091.4(AOC1):c.2214G>A (p.Met738Ile)	AOC1 (M738I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299974	NM_001091.4(AOC1):c.116A>T (p.Gln39Leu)	AOC1 (Q39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299963	NM_001091.4(AOC1):c.1378A>G (p.Asn460Asp)	AOC1 (N460D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299954	NM_001091.4(AOC1):c.13G>A (p.Gly5Ser)	AOC1 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299945	NM_001091.4(AOC1):c.1015G>A (p.Val339Met)	AOC1 (V339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299934	NM_001091.4(AOC1):c.1643G>A (p.Arg548His)	AOC1 (R548H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3299924	NM_001091.4(AOC1):c.205G>A (p.Val69Met)	AOC1 (V69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299918	NM_001091.4(AOC1):c.292C>T (p.Arg98Cys)	AOC1 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299909	NM_001091.4(AOC1):c.1694C>T (p.Ala565Val)	AOC1 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299899	NM_001091.4(AOC1):c.2156G>A (p.Arg719Gln)	AOC1 (R719Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3245702	NC_000007.13:g.(?_150324807)_(150706375_?)dup	AOC1, GIMAP1 +7 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3245694	NC_000007.13:g.(?_150324807)_(150706375_?)del	AOC1, GIMAP1 +7 more	Deletion	Long QT syndrome	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3127357	NM_001091.4(AOC1):c.881C>T (p.Pro294Leu)	AOC1 (P294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127355	NM_001091.4(AOC1):c.71G>A (p.Gly24Glu)	AOC1 (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127354	NM_001091.4(AOC1):c.60G>C (p.Glu20Asp)	AOC1 (E20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127353	NM_001091.4(AOC1):c.58G>A (p.Glu20Lys)	AOC1 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127352	NM_001091.4(AOC1):c.335C>T (p.Thr112Ile)	AOC1 (T112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127351	NM_001091.4(AOC1):c.2221C>G (p.Pro741Ala)	AOC1 (P741A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127350	NM_001091.4(AOC1):c.1979T>C (p.Ile660Thr)	AOC1 (I679T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127349	NM_001091.4(AOC1):c.1781G>A (p.Arg594His)	AOC1 (R594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127348	NM_001091.4(AOC1):c.1520G>A (p.Gly507Asp)	AOC1 (G507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127347	NM_001091.4(AOC1):c.130G>A (p.Val44Met)	AOC1 (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127346	NM_001091.4(AOC1):c.1175C>T (p.Pro392Leu)	AOC1 (P392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127345	NM_001091.4(AOC1):c.1117G>A (p.Asp373Asn)	AOC1 (D373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2688581	NM_001091.4(AOC1):c.1819C>T (p.Pro607Ser)	AOC1 (P607S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658161	NM_001091.4(AOC1):c.2247A>G (p.Arg749=)	AOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608251	NM_001091.4(AOC1):c.734G>T (p.Ser245Ile)	AOC1 (S245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603027	NM_001091.4(AOC1):c.1123G>A (p.Gly375Ser)	AOC1 (G375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596143	NM_001091.4(AOC1):c.863G>A (p.Arg288His)	AOC1 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2547098	NM_001091.4(AOC1):c.1040C>T (p.Ala347Val)	AOC1 (A347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542214	NM_001091.4(AOC1):c.1880A>G (p.Tyr627Cys)	AOC1 (Y646C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522413	NM_001091.4(AOC1):c.1972G>A (p.Glu658Lys)	AOC1 (E677K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518901	NM_001091.4(AOC1):c.68C>T (p.Pro23Leu)	AOC1 (P23L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512527	NM_001091.4(AOC1):c.1358G>A (p.Arg453Gln)	AOC1 (R453Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510073	NM_001091.4(AOC1):c.1703G>A (p.Arg568His)	AOC1 (R568H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488230	NM_001091.4(AOC1):c.1034G>A (p.Arg345His)	AOC1 (R345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486818	NM_001091.4(AOC1):c.2012T>C (p.Val671Ala)	AOC1 (V671A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485210	NM_001091.4(AOC1):c.2152C>G (p.Pro718Ala)	AOC1 (P737A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482593	NM_001091.4(AOC1):c.608T>C (p.Ile203Thr)	AOC1 (I203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472962	NM_001091.4(AOC1):c.1453G>A (p.Val485Ile)	AOC1 (V485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2412464	NM_001091.4(AOC1):c.838C>T (p.Pro280Ser)	AOC1 (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410431	NM_001091.4(AOC1):c.938A>G (p.Glu313Gly)	AOC1 (E313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404571	NM_001091.4(AOC1):c.809G>T (p.Gly270Val)	AOC1 (G270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388602	NM_001091.4(AOC1):c.1709A>G (p.Lys570Arg)	AOC1 (K570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388327	NM_001091.4(AOC1):c.913C>T (p.Pro305Ser)	AOC1 (P305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388325	NM_001091.4(AOC1):c.1162G>A (p.Gly388Ser)	AOC1 (G388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363188	NM_001091.4(AOC1):c.590G>A (p.Arg197His)	AOC1 (R197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330527	NM_001091.4(AOC1):c.694G>A (p.Ala232Thr)	AOC1 (A232T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325619	NM_001091.4(AOC1):c.758A>T (p.Tyr253Phe)	AOC1 (Y253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286899	NM_001091.4(AOC1):c.1459G>A (p.Ala487Thr)	AOC1 (A487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247656	NM_001091.4(AOC1):c.1407C>G (p.Phe469Leu)	AOC1 (F469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239393	NM_001091.4(AOC1):c.1199C>G (p.Thr400Ser)	AOC1 (T400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229393	NM_001091.4(AOC1):c.592C>T (p.Arg198Cys)	AOC1 (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227741	NM_001091.4(AOC1):c.70G>A (p.Gly24Arg)	AOC1 (G24R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224364	NM_001091.4(AOC1):c.1030G>A (p.Glu344Lys)	AOC1 (E344K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203856	NM_001091.4(AOC1):c.2009C>A (p.Thr670Lys)	AOC1 (T670K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808990	GRCh37/hg19 7q36.1(chr7:150018908-150591382)x1	ACTR3C, AOC1 +14 more	Copy number loss	not provided	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527412	GRCh37/hg19 7q36.1(chr7:150109825-150700159)	AOC1, GIMAP1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830893	NC_000007.13:g.(?_150066801)_(150759750_?)del	ABCB8, AOC1 +17 more	Deletion	Long QT syndrome	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 792093	NM_001091.4(AOC1):c.1975A>C (p.Asn659His)	AOC1 (N659H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 757029	NM_001091.4(AOC1):c.1571-9T>C	AOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 755777	NM_001091.4(AOC1):c.926G>C (p.Arg309Pro)	AOC1 (R309P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686901	GRCh37/hg19 7q36.1(chr7:150112013-150707556)x3	AOC1, GIMAP1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic

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