57462[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001569, LOC130001570 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001818, LOC130001819 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 155431	GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3	DCAF12, DNAI1 +37 more	Copy number gain	See cases	GUncertain significance
Select item 1220609	NM_020702.5(MYORG):c.*95del	MYORG	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 3169150	NM_020702.5(MYORG):c.2137G>T (p.Ala713Ser)	MYORG (A713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169147	NM_020702.5(MYORG):c.2122G>T (p.Ala708Ser)	MYORG (A708S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2053900	NM_020702.5(MYORG):c.2121C>A (p.Ile707=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681279	NM_020702.5(MYORG):c.2103G>A (p.Pro701=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1013325	NM_020702.5(MYORG):c.2083G>C (p.Val695Leu)	MYORG (V695L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681280	NM_020702.5(MYORG):c.2041A>G (p.Lys681Glu)	MYORG (K681E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559959	NM_020702.5(MYORG):c.2036C>T (p.Ala679Val)	MYORG (A679V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559958	NM_020702.5(MYORG):c.2035G>T (p.Ala679Ser)	MYORG (A679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659156	NM_020702.5(MYORG):c.2034C>G (p.Pro678=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169136	NM_020702.5(MYORG):c.2033C>T (p.Pro678Leu)	MYORG (P678L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169132	NM_020702.5(MYORG):c.2031G>C (p.Leu677Phe)	MYORG (L677F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1681281	NM_020702.5(MYORG):c.2031G>A (p.Leu677=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234546	NM_020702.5(MYORG):c.2019_2023del (p.Asp674fs)	MYORG (D674fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1312194	NM_020702.5(MYORG):c.2020G>A (p.Asp674Asn)	MYORG (D674N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058545	NM_020702.5(MYORG):c.2019C>G (p.Arg673=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681282	NM_020702.5(MYORG):c.1991C>T (p.Pro664Leu)	MYORG (P664L)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive +1 more	GUncertain significance
Select item 2057704	NM_020702.5(MYORG):c.1979T>C (p.Leu660Pro)	MYORG (L660P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692180	NM_020702.5(MYORG):c.1979T>A (p.Leu660Gln)	MYORG (L660Q)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 1681283	NM_020702.5(MYORG):c.1977G>C (p.Thr659=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055920	NM_020702.5(MYORG):c.1972G>A (p.Asp658Asn)	MYORG (D658N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692177	NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr)	MYORG (I656T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3298104	NM_020702.5(MYORG):c.1940C>T (p.Ala647Val)	MYORG (A647V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2175296	NM_020702.5(MYORG):c.1926C>G (p.Pro642=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681284	NM_020702.5(MYORG):c.1908C>T (p.Pro636=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806199	NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)	MYORG (E625*)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic
Select item 1681285	NM_020702.5(MYORG):c.1870G>A (p.Gly624Ser)	MYORG (G624S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 692175	NM_020702.5(MYORG):c.1865T>C (p.Leu622Pro)	MYORG (L622P)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 2518134	NM_020702.5(MYORG):c.1858C>T (p.Leu620Phe)	MYORG (L620F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1681286	NM_020702.5(MYORG):c.1851_1852delinsAA (p.Leu618Met)	MYORG (L618M)	Indel (missense variant)	not provided	GUncertain significance
Select item 1050051	NM_020702.5(MYORG):c.1852C>A (p.Leu618Met)	MYORG (L618M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3169116	NM_020702.5(MYORG):c.1849C>A (p.Pro617Thr)	MYORG (P617T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 692183	NM_020702.5(MYORG):c.1831C>T (p.Arg611Trp)	MYORG (R611W)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 3169113	NM_020702.5(MYORG):c.1826C>T (p.Ala609Val)	MYORG (A609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169111	NM_020702.5(MYORG):c.1822G>T (p.Ala608Ser)	MYORG (A608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2120290	NM_020702.5(MYORG):c.1805C>T (p.Ala602Val)	MYORG (A602V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571332	NM_020702.5(MYORG):c.1799T>G (p.Val600Gly)	MYORG (V600G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804977	NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)	MYORG (Y596*)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic
Select item 1000365	NM_020702.5(MYORG):c.1771A>G (p.Ile591Val)	MYORG (I591V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977667	NM_020702.5(MYORG):c.1728C>A (p.Arg576=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239093	NM_020702.5(MYORG):c.1727G>A (p.Arg576His)	MYORG (R576H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681287	NM_020702.5(MYORG):c.1721A>T (p.Tyr574Phe)	MYORG (Y574F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491728	NM_020702.5(MYORG):c.1714G>C (p.Glu572Gln)	MYORG (E572Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048355	NM_020702.5(MYORG):c.1698_1699del (p.Asp567fs)	MYORG (D567fs)	Deletion (frameshift variant)	MYORG-related disorder	GLikely pathogenic
Select item 2635176	NM_020702.5(MYORG):c.1698_1699delinsAAT (p.Asp567fs)	MYORG (D567fs)	Indel (frameshift variant)	MYORG-related disorder	GLikely pathogenic
Select item 1977668	NM_020702.5(MYORG):c.1698C>A (p.Gly566=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3298100	NM_020702.5(MYORG):c.1673C>T (p.Ala558Val)	MYORG (A558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1681288	NM_020702.5(MYORG):c.1668C>G (p.Gly556=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2072912	NM_020702.5(MYORG):c.1660G>A (p.Val554Met)	MYORG (V554M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681289	NM_020702.5(MYORG):c.1658T>C (p.Met553Thr)	MYORG (M553T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681290	NM_020702.5(MYORG):c.1651C>T (p.Pro551Ser)	MYORG (P551S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003361	NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp)	MYORG (G545D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2000490	NM_020702.5(MYORG):c.1608del (p.Ala537fs)	MYORG (A537fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1955397	NM_020702.5(MYORG):c.1608C>T (p.Pro536=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1039107	NM_020702.5(MYORG):c.1607C>T (p.Pro536Leu)	MYORG (P536L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1681291	NM_020702.5(MYORG):c.1603A>G (p.Ile535Val)	MYORG (I535V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335726	NM_020702.5(MYORG):c.1598C>T (p.Ser533Leu)	MYORG (S533L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1921588	NM_020702.5(MYORG):c.1584C>T (p.Asp528=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169102	NM_020702.5(MYORG):c.1562G>A (p.Arg521His)	MYORG (R521H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 985450	NM_020702.5(MYORG):c.1535T>G (p.Ile512Ser)	MYORG (I512S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169099	NM_020702.5(MYORG):c.1526C>T (p.Ser509Leu)	MYORG (S509L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2884331	NM_020702.5(MYORG):c.1518C>T (p.Gly506=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042323	NM_020702.5(MYORG):c.1509G>C (p.Val503=)	MYORG	Single nucleotide variant (synonymous variant)	MYORG-related disorder	GLikely benign
Select item 1681292	NM_020702.5(MYORG):c.1497G>A (p.Ser499=)	MYORG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168119	NM_020702.5(MYORG):c.1488C>G (p.Pro496=)	MYORG	Single nucleotide variant (synonymous variant)	MYORG-related disorder +1 more	GBenign
Select item 1681293	NM_020702.5(MYORG):c.1487C>T (p.Pro496Leu)	MYORG (P496L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681294	NM_020702.5(MYORG):c.1476G>A (p.Glu492=)	MYORG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1681295	NM_020702.5(MYORG):c.1469A>G (p.Tyr490Cys)	MYORG (Y490C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2025047	NM_020702.5(MYORG):c.1463G>C (p.Arg488Pro)	MYORG (R488P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681296	NM_020702.5(MYORG):c.1453G>T (p.Val485Phe)	MYORG (V485F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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