ClinVar for Gene (Select 26190) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278224	NM_012164.4(FBXW2):c.1154G>A (p.Arg385His)	FBXW2 (R256H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093847	NM_012164.4(FBXW2):c.973A>C (p.Ser325Arg)	FBXW2 (S325R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093846	NM_012164.4(FBXW2):c.683C>G (p.Ala228Gly)	FBXW2 (A228G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093845	NM_012164.4(FBXW2):c.544T>C (p.Tyr182His)	FBXW2 (Y214H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093844	NM_012164.4(FBXW2):c.1345T>G (p.Leu449Val)	FBXW2 (L320V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093843	NM_012164.4(FBXW2):c.1168A>T (p.Met390Leu)	FBXW2 (M261L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093842	NM_012164.4(FBXW2):c.1153C>T (p.Arg385Cys)	FBXW2 (R256C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093841	NM_012164.4(FBXW2):c.1061G>C (p.Ser354Thr)	FBXW2 (S354T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
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 2613815	NM_012164.4(FBXW2):c.346G>A (p.Ala116Thr)	FBXW2 (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597190	NM_012164.4(FBXW2):c.1151A>G (p.Asn384Ser)	FBXW2 (N255S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550483	NM_012164.4(FBXW2):c.829C>G (p.Gln277Glu)	FBXW2 (Q309E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478041	NM_012164.4(FBXW2):c.1085A>G (p.Lys362Arg)	FBXW2 (K362R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474267	NM_012164.4(FBXW2):c.283A>G (p.Thr95Ala)	FBXW2 (T95A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366194	NM_012164.4(FBXW2):c.314T>G (p.Leu105Trp)	FBXW2 (L105W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307063	NM_012164.4(FBXW2):c.470A>G (p.Lys157Arg)	FBXW2 (K157R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236310	NM_012164.4(FBXW2):c.850C>G (p.Leu284Val)	FBXW2 (L155V +2 more)	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 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	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 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 1330179	GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1	ASTN2, BRINP1 +19 more	Copy number loss	Intellectual disability, borderline +5 more	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 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 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	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 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 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 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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39