80[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	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 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 157080	NC_000007.14:g.150856388_150863235del	AOC1	Deletion	Normal pregnancy	Gnot provided
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 3127353	NM_001091.4(AOC1):c.58G>A (p.Glu20Lys)	AOC1 (E20K)	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 2518901	NM_001091.4(AOC1):c.68C>T (p.Pro23Leu)	AOC1 (P23L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3127355	NM_001091.4(AOC1):c.71G>A (p.Gly24Glu)	AOC1 (G24E)	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 3127347	NM_001091.4(AOC1):c.130G>A (p.Val44Met)	AOC1 (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3127352	NM_001091.4(AOC1):c.335C>T (p.Thr112Ile)	AOC1 (T112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2363188	NM_001091.4(AOC1):c.590G>A (p.Arg197His)	AOC1 (R197H)	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 2482593	NM_001091.4(AOC1):c.608T>C (p.Ile203Thr)	AOC1 (I203T)	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 2608251	NM_001091.4(AOC1):c.734G>T (p.Ser245Ile)	AOC1 (S245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2404571	NM_001091.4(AOC1):c.809G>T (p.Gly270Val)	AOC1 (G270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2596143	NM_001091.4(AOC1):c.863G>A (p.Arg288His)	AOC1 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2388327	NM_001091.4(AOC1):c.913C>T (p.Pro305Ser)	AOC1 (P305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755777	NM_001091.4(AOC1):c.926G>C (p.Arg309Pro)	AOC1 (R309P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 3299945	NM_001091.4(AOC1):c.1015G>A (p.Val339Met)	AOC1 (V339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2488230	NM_001091.4(AOC1):c.1034G>A (p.Arg345His)	AOC1 (R345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3127345	NM_001091.4(AOC1):c.1117G>A (p.Asp373Asn)	AOC1 (D373N)	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 2388325	NM_001091.4(AOC1):c.1162G>A (p.Gly388Ser)	AOC1 (G388S)	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 2239393	NM_001091.4(AOC1):c.1199C>G (p.Thr400Ser)	AOC1 (T400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3299963	NM_001091.4(AOC1):c.1378A>G (p.Asn460Asp)	AOC1 (N460D)	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 2472962	NM_001091.4(AOC1):c.1453G>A (p.Val485Ile)	AOC1 (V485I)	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 3127348	NM_001091.4(AOC1):c.1520G>A (p.Gly507Asp)	AOC1 (G507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757029	NM_001091.4(AOC1):c.1571-9T>C	AOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3299909	NM_001091.4(AOC1):c.1694C>T (p.Ala565Val)	AOC1 (A565V)	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 2388602	NM_001091.4(AOC1):c.1709A>G (p.Lys570Arg)	AOC1 (K570R)	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 2688581	NM_001091.4(AOC1):c.1819C>T (p.Pro607Ser)	AOC1 (P607S)	Single nucleotide variant (missense variant)	not provided	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 792093	NM_001091.4(AOC1):c.1975A>C (p.Asn659His)	AOC1 (N659H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 2658161	NM_001091.4(AOC1):c.2247A>G (p.Arg749=)	AOC1	Single nucleotide variant (synonymous variant)	not provided	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 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 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

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