GTF3C4[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)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 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	ABCA2, ABL1 +1268 more	Copy number gain	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 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 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 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 3080993	NM_022779.8(DDX31):c.192C>A (p.Ser64Arg)	DDX31, GTF3C4 (S64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271309	NM_022779.8(DDX31):c.185C>T (p.Pro62Leu)	DDX31, GTF3C4 (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595754	NM_022779.8(DDX31):c.179C>A (p.Thr60Lys)	DDX31, GTF3C4 (T60K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271307	NM_022779.8(DDX31):c.155C>G (p.Pro52Arg)	DDX31, GTF3C4 (P52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271295	NM_022779.8(DDX31):c.139C>T (p.Pro47Ser)	DDX31, GTF3C4 (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211795	NM_022779.8(DDX31):c.77C>A (p.Pro26Gln)	DDX31, GTF3C4 (P26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254425	NM_012204.4(GTF3C4):c.6C>A (p.Asn2Lys)	GTF3C4 (N2K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538215	NM_012204.4(GTF3C4):c.8C>T (p.Thr3Met)	GTF3C4 (T3M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347914	NM_012204.4(GTF3C4):c.40G>A (p.Asp14Asn)	GTF3C4 (D14N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103172	NM_012204.4(GTF3C4):c.47C>T (p.Pro16Leu)	GTF3C4 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496454	NM_012204.4(GTF3C4):c.143G>A (p.Arg48His)	GTF3C4 (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546744	NM_012204.4(GTF3C4):c.155C>G (p.Thr52Ser)	GTF3C4 (T52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283105	NM_012204.4(GTF3C4):c.157C>T (p.Arg53Trp)	GTF3C4 (R53W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103167	NM_012204.4(GTF3C4):c.182A>G (p.Gln61Arg)	GTF3C4 (Q61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285720	NM_012204.4(GTF3C4):c.196G>A (p.Gly66Ser)	GTF3C4 (G66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659659	NM_012204.4(GTF3C4):c.270G>A (p.Glu90=)	GTF3C4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3103170	NM_012204.4(GTF3C4):c.328C>T (p.Pro110Ser)	GTF3C4 (P110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103171	NM_012204.4(GTF3C4):c.340A>G (p.Asn114Asp)	GTF3C4 (N114D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529857	NM_012204.4(GTF3C4):c.457C>T (p.Pro153Ser)	GTF3C4 (P153S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283101	NM_012204.4(GTF3C4):c.599T>C (p.Leu200Pro)	GTF3C4 (L200P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283104	NM_012204.4(GTF3C4):c.859G>A (p.Val287Met)	GTF3C4 (V287M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103173	NM_012204.4(GTF3C4):c.878C>T (p.Pro293Leu)	GTF3C4 (P293L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346376	NM_012204.4(GTF3C4):c.935C>T (p.Ser312Phe)	GTF3C4 (S312F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307925	NM_012204.4(GTF3C4):c.971A>G (p.Asn324Ser)	GTF3C4 (N324S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283103	NM_012204.4(GTF3C4):c.1046C>T (p.Ala349Val)	GTF3C4 (A349V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659660	NM_012204.4(GTF3C4):c.1249C>T (p.His417Tyr)	GTF3C4 (H417Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3103165	NM_012204.4(GTF3C4):c.1456G>A (p.Gly486Ser)	GTF3C4 (G486S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103166	NM_012204.4(GTF3C4):c.1498G>A (p.Gly500Ser)	GTF3C4 (G500S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237628	NM_012204.4(GTF3C4):c.1586C>T (p.Ser529Leu)	GTF3C4 (S529L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623919	NM_012204.4(GTF3C4):c.1805A>C (p.Glu602Ala)	GTF3C4 (E602A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295937	NM_012204.4(GTF3C4):c.1811C>T (p.Ser604Leu)	GTF3C4 (S604L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103168	NM_012204.4(GTF3C4):c.1880C>A (p.Ser627Tyr)	GTF3C4 (S627Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283102	NM_012204.4(GTF3C4):c.1910A>T (p.Gln637Leu)	GTF3C4 (Q637L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283107	NM_012204.4(GTF3C4):c.1963A>C (p.Thr655Pro)	GTF3C4 (T655P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605836	NM_012204.4(GTF3C4):c.2276G>A (p.Arg759His)	GTF3C4 (R759H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519669	NM_012204.4(GTF3C4):c.2294C>G (p.Ser765Cys)	GTF3C4 (S765C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103169	NM_012204.4(GTF3C4):c.2297A>G (p.Asn766Ser)	GTF3C4 (N766S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696834	NC_000009.12:g.132691768_133013020del	TSC1, AK8 +11 more	Deletion	Tuberous sclerosis 1	GPathogenic
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3063120	GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1	AK8, BARHL1 +6 more	Copy number loss	not specified	GUncertain significance
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 2685367	GRCh37/hg19 9q34.13(chr9:135469154-135717772)x1	AK8, DDX31 +1 more	Copy number loss	not provided	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 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Developmental and epileptic encephalopathy, 14 +4 more	GUncertain significance
Select item 1808330	GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3	BARHL1, CEL +8 more	Copy number gain	not provided	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 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 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 563636	GRCh37/hg19 9q34.13(chr9:135056357-135568321)x3	CFAP77, DDX31 +5 more	Copy number gain	not provided	GUncertain significance
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 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
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

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Items: 84