ClinVar for Gene (Select 2960) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103059	NM_005513.3(GTF2E1):c.940G>A (p.Gly314Arg)	GTF2E1 (G314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103058	NM_005513.3(GTF2E1):c.915T>G (p.Phe305Leu)	GTF2E1 (F305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103057	NM_005513.3(GTF2E1):c.862G>C (p.Gly288Arg)	GTF2E1 (G288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103056	NM_005513.3(GTF2E1):c.760G>A (p.Val254Ile)	GTF2E1 (V254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103054	NM_005513.3(GTF2E1):c.167G>A (p.Arg56Gln)	GTF2E1 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103053	NM_005513.3(GTF2E1):c.1205C>T (p.Pro402Leu)	GTF2E1 (P402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2535073	NM_005513.3(GTF2E1):c.312A>C (p.Lys104Asn)	GTF2E1 (K104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517344	NM_005513.3(GTF2E1):c.923G>A (p.Arg308His)	GTF2E1 (R308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492959	NM_005513.3(GTF2E1):c.1222G>T (p.Val408Leu)	GTF2E1 (V408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478828	NM_005513.3(GTF2E1):c.1216A>G (p.Ser406Gly)	GTF2E1 (S406G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403513	NM_005513.3(GTF2E1):c.230G>A (p.Arg77Lys)	GTF2E1 (R77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398800	NM_005513.3(GTF2E1):c.1282G>A (p.Ala428Thr)	GTF2E1 (A428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383786	NM_005513.3(GTF2E1):c.7G>C (p.Asp3His)	GTF2E1 (D3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376916	NM_005513.3(GTF2E1):c.1202G>A (p.Arg401His)	GTF2E1 (R401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325526	NM_005513.3(GTF2E1):c.865G>T (p.Ala289Ser)	GTF2E1 (A289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246855	NM_005513.3(GTF2E1):c.1247C>A (p.Ala416Asp)	GTF2E1 (A416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213242	NM_005513.3(GTF2E1):c.1279A>G (p.Ile427Val)	GTF2E1 (I427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205670	NM_005513.3(GTF2E1):c.826G>A (p.Glu276Lys)	GTF2E1 (E276K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527039	GRCh37/hg19 3q13.33(chr3:119844770-120822965)	FSTL1, GPR156 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 789165	NM_005513.3(GTF2E1):c.1068C>T (p.Ser356=)	GTF2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685221	GRCh37/hg19 3q13.33(chr3:120355508-120514171)x3	GTF2E1, HGD +1 more	Copy number gain	not provided	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 150584	GRCh38/hg38 3q13.33(chr3:120641434-121254322)x3	GTF2E1, HGD +10 more	Copy number gain	See cases	GUncertain significance
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 149283	GRCh38/hg38 3q13.33(chr3:120601884-121357490)x3	GTF2E1, HGD +11 more	Copy number gain	See cases	GUncertain significance
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	LRRC58-DT, MIR198 +100 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 145353	GRCh38/hg38 3q13.33(chr3:120286468-121375425)x3	FSTL1, GTF2E1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 42