ENG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 982458	NC_000009.12:g.127814980_127830815del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982457	NC_000009.12:g.127814982_127820052del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 417397	NC_000009.12:g.(?_127815012)_(127854773_?)del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 914941	NM_001114753.3(ENG):c.*586C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 914942	NM_001114753.3(ENG):c.*558A>G	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 914943	NM_001114753.3(ENG):c.*534C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 912984	NM_001114753.3(ENG):c.*533G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 912985	NM_001114753.3(ENG):c.*530T>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365076	NM_001114753.3(ENG):c.*523A>G	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 912986	NM_001114753.3(ENG):c.*492G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 365077	NM_001114753.3(ENG):c.*491C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 365078	NM_001114753.3(ENG):c.*461AACT[1]	ENG	Microsatellite (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 912987	NM_001114753.3(ENG):c.*449C>G	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 912988	NM_001114753.3(ENG):c.*438G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 1695265	NM_001114753.3(ENG):c.*431T>G	ENG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 912989	NM_001114753.3(ENG):c.*424G>C	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 913354	NM_001114753.3(ENG):c.*391G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 913355	NM_001114753.3(ENG):c.*320G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign
Select item 437433	Single allele	LOC102723566, ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 365079	NM_001114753.3(ENG):c.*273A>C	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365080	NM_001114753.3(ENG):c.*266G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365081	NM_001114753.3(ENG):c.*252C>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365082	NM_001114753.3(ENG):c.*150C>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365083	NM_001114753.3(ENG):c.*133C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 913356	NM_001114753.3(ENG):c.*109C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 528087	NC_000009.12:g.(?_127815662)_(127820057_?)del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 914476	NM_001114753.3(ENG):c.*4C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 993608	NM_001114753.3(ENG):c.1977G>A (p.Ter659=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 425462	NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)	ENG (M657T +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 1783459	NM_001114753.3(ENG):c.1962C>A (p.Thr654=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 426118	NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)	ENG (T654S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 810420	NM_001114753.3(ENG):c.1955G>A (p.Cys652Tyr)	ENG (C470Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1782953	NM_001114753.3(ENG):c.1935G>A (p.Gly645=)	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2403109	NM_001114753.3(ENG):c.1934G>C (p.Gly645Ala)	ENG (G463A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 226632	NM_001114753.3(ENG):c.1932C>T (p.Ile644=)	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2430340	NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)	ENG (S461N +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 1782773	NM_001114753.3(ENG):c.1926C>T (p.His642=)	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1782726	NM_001114753.3(ENG):c.1923C>T (p.Asn641=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1782667	NM_001114753.3(ENG):c.1920C>G (p.Thr640=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2452652	NM_001114753.3(ENG):c.1905G>A (p.Ser635=)	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1782359	NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)	ENG (S453L +1 more)	Single nucleotide variant (missense variant)	ENG-related condition +1 more	GUncertain significance
Select item 1782310	NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala)	ENG (S634A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1782072	NM_001114753.3(ENG):c.1890T>G (p.Ala630=)	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1781953	NM_001114753.3(ENG):c.1884G>A (p.Ala628=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1781928	NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)	ENG (A446V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 810421	NM_001114753.3(ENG):c.1876G>A (p.Val626Met)	ENG (V444M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 2272296	NM_001114753.3(ENG):c.1868G>A (p.Arg623Gln)	ENG (R623Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1781496	NM_001114753.3(ENG):c.1860C>A (p.Pro620=)	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1781422	NM_001114753.3(ENG):c.1857C>A (p.Ser619=)	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 426047	NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu)	ENG (R618L +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 810422	NM_001114753.3(ENG):c.1853-14GCTCCC[3]	ENG	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 2499105	NM_001114753.3(ENG):c.1853-8_1853-3del	ENG	Microsatellite (3 prime UTR variant +1 more)	ENG-related condition +1 more	GLikely benign
Select item 914477	NM_001114753.3(ENG):c.1853-9C>T	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 914478	NM_001114753.3(ENG):c.1853-18C>T	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 914479	NM_001114753.3(ENG):c.1853-27C>T	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 365084	NM_001114753.3(ENG):c.1852+52G>C	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 914988	NM_001114753.3(ENG):c.1852+51C>G	ENG	Single nucleotide variant (intron variant)	ENG-related condition +1 more	GConflicting classifications of pathogenicity
Select item 914989	NM_001114753.3(ENG):c.1852+42C>T	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3032884	NM_001114753.3(ENG):c.1852+37C>A	ENG	Single nucleotide variant (3 prime UTR variant +1 more)	ENG-related condition	GLikely benign
Select item 810880	NM_001114753.3(ENG):c.1852+36G>T	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 2737791	NM_001114753.3(ENG):c.1852+25G>A	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2790195	NM_001114753.3(ENG):c.1852+23G>A	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2662296	NM_001114753.3(ENG):c.1852+21_1852+22del	ENG (Q625fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2901582	NM_001114753.3(ENG):c.1852+21C>T	ENG (Q625*)	Single nucleotide variant (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 577031	NM_001114753.3(ENG):c.1852+21C>G	ENG (Q625E)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2767511	NM_001114753.3(ENG):c.1852+20A>G	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 1125948	NM_001114753.3(ENG):c.1852+11C>T	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2051471	NM_001114753.3(ENG):c.1852+3G>A	ENG (E619K)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1477415	NM_001114753.3(ENG):c.1852+1G>C	ENG (R618P)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2999407	NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)	ENG (R436G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1381531	NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys)	ENG (R618C +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1098933	NM_001114753.3(ENG):c.1851G>A (p.Thr617=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 810423	NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)	ENG (T617M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GUncertain significance
Select item 1592247	NM_001114753.3(ENG):c.1845G>C (p.Ser615=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 237025	NM_001114753.3(ENG):c.1845G>T (p.Ser615=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 528060	NM_001114753.3(ENG):c.1844C>G (p.Ser615Trp)	ENG (S615W +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 161229	NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	ENG (S615L +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 1157109	NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2152060	NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)	ENG (A427V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 1780775	NM_001114753.3(ENG):c.1821T>C (p.Thr607=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 747954	NM_001114753.3(ENG):c.1818C>A (p.Leu606=)	ENG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125722	NM_001114753.3(ENG):c.1815G>A (p.Leu605=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 995600	NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	ENG (G421R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 365085	NM_001114753.3(ENG):c.1806C>T (p.Ile602=)	ENG	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity

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