ClinVar for Gene (Select 8939) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280157	NM_003934.2(FUBP3):c.920C>T (p.Pro307Leu)	FUBP3 (P307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280156	NM_003934.2(FUBP3):c.871C>T (p.Pro291Ser)	FUBP3 (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280155	NM_003934.2(FUBP3):c.61G>A (p.Asp21Asn)	FUBP3, LOC130002812 (D21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280154	NM_003934.2(FUBP3):c.130C>A (p.Pro44Thr)	FUBP3 (P44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	ABCA2, ABL1 +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	AK8, ASB6 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	SH3GLB2, SLC25A25 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3097431	NM_003934.2(FUBP3):c.864G>T (p.Gln288His)	FUBP3 (Q288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097430	NM_003934.2(FUBP3):c.730C>T (p.Arg244Cys)	FUBP3 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097429	NM_003934.2(FUBP3):c.721C>T (p.Arg241Trp)	FUBP3 (R241W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097428	NM_003934.2(FUBP3):c.658A>C (p.Lys220Gln)	FUBP3 (K220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097427	NM_003934.2(FUBP3):c.524G>T (p.Gly175Val)	FUBP3 (G175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097426	NM_003934.2(FUBP3):c.1603C>T (p.Pro535Ser)	FUBP3 (P535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097425	NM_003934.2(FUBP3):c.1303G>A (p.Ala435Thr)	FUBP3 (A435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097423	NM_003934.2(FUBP3):c.1033G>T (p.Asp345Tyr)	FUBP3 (D345Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097422	NM_003934.2(FUBP3):c.1016G>C (p.Arg339Thr)	FUBP3 (R339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 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 2685365	GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1	ABL1, ASS1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2601237	NM_003934.2(FUBP3):c.1022G>A (p.Arg341His)	FUBP3 (R341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590435	NM_003934.2(FUBP3):c.1628A>C (p.Tyr543Ser)	FUBP3 (Y543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494443	NM_003934.2(FUBP3):c.1628A>G (p.Tyr543Cys)	FUBP3 (Y543C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489579	NM_003934.2(FUBP3):c.850G>T (p.Gly284Cys)	FUBP3 (G284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459250	NM_003934.2(FUBP3):c.1202A>G (p.Asn401Ser)	FUBP3 (N401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2408624	NM_003934.2(FUBP3):c.985G>A (p.Gly329Ser)	FUBP3 (G329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353246	NM_003934.2(FUBP3):c.1186C>T (p.Pro396Ser)	FUBP3 (P396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332166	NM_003934.2(FUBP3):c.1291G>A (p.Gly431Arg)	FUBP3 (G431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314961	NM_003934.2(FUBP3):c.1004C>T (p.Ala335Val)	FUBP3 (A335V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270023	NM_003934.2(FUBP3):c.1256A>T (p.Gln419Leu)	FUBP3 (Q419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246537	NM_003934.2(FUBP3):c.446G>A (p.Arg149Gln)	FUBP3 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238056	NM_003934.2(FUBP3):c.227C>T (p.Thr76Met)	FUBP3 (T76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214568	NM_003934.2(FUBP3):c.1042G>A (p.Val348Met)	FUBP3 (V348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1371850	NC_000009.11:g.(?_133327616)_(133589862_?)dup	PRDM12, FUBP3 +3 more	Duplication	Citrullinemia	GUncertain significance
Select item 688817	GRCh37/hg19 9q34.11-34.12(chr9:133276056-133851405)x1	ABL1, ASS1 +6 more	Copy number loss	not provided	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 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +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 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 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	LOC130001539, LOC130001540 +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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 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 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 145839	GRCh38/hg38 9q34.12(chr9:130600160-130655199)x3	FUBP3, LOC124310669 +1 more	Copy number gain	See cases	GLikely benign
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 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 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 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 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 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 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

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Links from Gene

Items: 64