GTF2F1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2460093	NM_002096.3(GTF2F1):c.1511G>A (p.Arg504His)	GTF2F1 (R504H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621458	NM_002096.3(GTF2F1):c.1496G>A (p.Arg499Gln)	GTF2F1 (R499Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468637	NM_002096.3(GTF2F1):c.1378C>T (p.Arg460Cys)	GTF2F1 (R460C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561078	NM_002096.3(GTF2F1):c.1280C>T (p.Thr427Met)	GTF2F1 (T427M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355312	NM_002096.3(GTF2F1):c.1265G>A (p.Arg422Gln)	GTF2F1 (R422Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369352	NM_002096.3(GTF2F1):c.1204C>T (p.Arg402Trp)	GTF2F1 (R402W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209175	NM_002096.3(GTF2F1):c.1156C>T (p.Arg386Cys)	GTF2F1 (R386C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284263	NM_002096.3(GTF2F1):c.1050G>C (p.Glu350Asp)	GTF2F1 (E350D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361434	NM_002096.3(GTF2F1):c.1027G>A (p.Glu343Lys)	GTF2F1 (E343K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217265	NM_002096.3(GTF2F1):c.1009C>T (p.Arg337Cys)	GTF2F1 (R337C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533972	NM_002096.3(GTF2F1):c.976G>A (p.Glu326Lys)	GTF2F1 (E326K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525144	NM_002096.3(GTF2F1):c.947C>T (p.Pro316Leu)	GTF2F1 (P316L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716470	NM_002096.3(GTF2F1):c.899-9C>T	GTF2F1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2594293	NM_002096.3(GTF2F1):c.877C>A (p.Gln293Lys)	GTF2F1 (Q293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238995	NM_002096.3(GTF2F1):c.770C>A (p.Ala257Asp)	GTF2F1 (A257D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545457	NM_002096.3(GTF2F1):c.762C>A (p.Asp254Glu)	GTF2F1 (D254E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380385	NM_002096.3(GTF2F1):c.716C>T (p.Pro239Leu)	GTF2F1 (P239L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561045	NM_002096.3(GTF2F1):c.655G>C (p.Asp219His)	GTF2F1 (D219H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285195	NM_002096.3(GTF2F1):c.655G>A (p.Asp219Asn)	GTF2F1 (D219N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375269	NM_002096.3(GTF2F1):c.589C>T (p.Arg197Cys)	GTF2F1 (R197C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607774	NM_002096.3(GTF2F1):c.566A>G (p.Glu189Gly)	GTF2F1 (E189G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781423	NM_002096.3(GTF2F1):c.366G>A (p.Thr122=)	GTF2F1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361915	NM_002096.3(GTF2F1):c.352G>A (p.Val118Ile)	GTF2F1 (V118I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649132	NM_002096.3(GTF2F1):c.339C>A (p.Ile113=)	GTF2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256751	NM_002096.3(GTF2F1):c.304G>A (p.Val102Ile)	GTF2F1 (V102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342579	NM_002096.3(GTF2F1):c.269A>C (p.Glu90Ala)	GTF2F1 (E90A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341623	NM_002096.3(GTF2F1):c.218G>A (p.Arg73His)	GTF2F1 (R73H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493210	NM_002096.3(GTF2F1):c.98C>T (p.Ala33Val)	GTF2F1 (A33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364234	NM_002096.3(GTF2F1):c.21C>A (p.Ser7Arg)	GTF2F1 (S7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364233	NM_002096.3(GTF2F1):c.19A>G (p.Ser7Gly)	GTF2F1 (S7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2364232	NM_002096.3(GTF2F1):c.17C>T (p.Pro6Leu)	GTF2F1 (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394243	GRCh37/hg19 19p13.3(chr19:6375676-6383466)x3	GTF2F1, PSPN	Copy number gain	See cases	GUncertain significance
Select item 393772	GRCh37/hg19 19p13.3(chr19:6375353-6383466)x3	GTF2F1, PSPN	Copy number gain	See cases	Gconflicting data from submitters

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Items: 45