ClinVar for Gene (Select 2961) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063005	GRCh37/hg19 8p12(chr8:30398461-30957178)x1	GSR, GTF2E2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3022262	NM_002095.6(GTF2E2):c.144G>C (p.Ser48=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991583	NM_002095.6(GTF2E2):c.759+16C>T	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982103	NM_002095.6(GTF2E2):c.644-16T>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978272	NM_002095.6(GTF2E2):c.394G>A (p.Val132Ile)	GTF2E2 (V132I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978221	NM_002095.6(GTF2E2):c.678T>C (p.Asp226=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976456	NM_002095.6(GTF2E2):c.432C>T (p.Asn144=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967568	NM_002095.6(GTF2E2):c.367-13A>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966620	NM_002095.6(GTF2E2):c.258+13C>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963585	NM_002095.6(GTF2E2):c.561C>T (p.Asp187=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961913	NM_002095.6(GTF2E2):c.258+18A>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890892	NM_002095.6(GTF2E2):c.528C>T (p.Pro176=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867277	NM_002095.6(GTF2E2):c.750A>G (p.Pro250=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854839	NM_002095.6(GTF2E2):c.237T>G (p.Ala79=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792635	NM_002095.6(GTF2E2):c.477C>T (p.Asp159=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788662	NM_002095.6(GTF2E2):c.13C>T (p.Leu5=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786105	NM_002095.6(GTF2E2):c.166+13G>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785641	NM_002095.6(GTF2E2):c.180A>G (p.Gly60=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779621	NM_002095.6(GTF2E2):c.258+7A>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777825	NM_002095.6(GTF2E2):c.760-19T>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747423	NM_002095.6(GTF2E2):c.267T>C (p.His89=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745868	NM_002095.6(GTF2E2):c.366+20T>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718420	NM_002095.6(GTF2E2):c.167-8A>T	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716346	NM_002095.6(GTF2E2):c.166+16T>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712238	NM_002095.6(GTF2E2):c.351A>G (p.Gln117=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658515	NM_001206847.2(SMIM18):c.149T>C (p.Val50Ala)	GTF2E2, SMIM18 (V50A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2606896	NM_001206847.2(SMIM18):c.209T>C (p.Val70Ala)	GTF2E2, SMIM18 (V70A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335156	NM_002095.6(GTF2E2):c.191T>G (p.Leu64Trp)	GTF2E2 (L64W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330070	NM_001206847.2(SMIM18):c.53G>C (p.Gly18Ala)	SMIM18, GTF2E2 (G18A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277363	NM_002095.6(GTF2E2):c.604T>C (p.Phe202Leu)	GTF2E2 (F202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255076	NM_002095.6(GTF2E2):c.262C>T (p.Arg88Trp)	GTF2E2 (R88W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248849	NM_001206847.2(SMIM18):c.148G>A (p.Val50Met)	SMIM18, GTF2E2 (V50M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204328	NM_002095.6(GTF2E2):c.266A>G (p.His89Arg)	GTF2E2 (H89R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196246	NM_002095.6(GTF2E2):c.184T>A (p.Phe62Ile)	GTF2E2 (F62I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183794	NM_002095.6(GTF2E2):c.124A>C (p.Lys42Gln)	GTF2E2 (K42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178213	NM_002095.6(GTF2E2):c.450C>G (p.Ala150=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173742	NM_002095.6(GTF2E2):c.759+4C>T	GTF2E2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2167907	NM_002095.6(GTF2E2):c.400G>A (p.Asp134Asn)	GTF2E2 (D134N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134852	NM_002095.6(GTF2E2):c.526C>T (p.Pro176Ser)	GTF2E2 (P176S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124169	NM_002095.6(GTF2E2):c.146C>G (p.Ser49Ter)	GTF2E2 (S49*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2121076	NM_002095.6(GTF2E2):c.137G>C (p.Gly46Ala)	GTF2E2 (G46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116508	NM_002095.6(GTF2E2):c.568C>G (p.Leu190Val)	GTF2E2 (L190V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115677	NM_002095.6(GTF2E2):c.845A>G (p.Lys282Arg)	GTF2E2 (K282R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061459	NM_002095.6(GTF2E2):c.258+17G>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053993	NM_002095.6(GTF2E2):c.805C>T (p.Arg269Cys)	GTF2E2 (R269C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044885	NM_002095.6(GTF2E2):c.695A>C (p.Lys232Thr)	GTF2E2 (K232T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021059	NM_002095.6(GTF2E2):c.490GGA[1] (p.Gly165del)	GTF2E2 (G165del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2018190	NM_002095.6(GTF2E2):c.102A>G (p.Ser34=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017390	NM_002095.6(GTF2E2):c.375C>G (p.Val125=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012799	NM_002095.6(GTF2E2):c.453A>G (p.Leu151=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007444	NM_002095.6(GTF2E2):c.258+11T>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003919	NM_002095.6(GTF2E2):c.222G>A (p.Lys74=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966913	NM_002095.6(GTF2E2):c.366+11A>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966114	NM_002095.6(GTF2E2):c.803G>A (p.Arg268Gln)	GTF2E2 (R268Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960219	NM_002095.6(GTF2E2):c.679T>G (p.Ser227Ala)	GTF2E2 (S227A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955666	NM_002095.6(GTF2E2):c.201G>A (p.Leu67=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944310	NM_002095.6(GTF2E2):c.822C>T (p.Asn274=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934120	NM_002095.6(GTF2E2):c.550-10T>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932874	NM_002095.6(GTF2E2):c.105G>A (p.Ser35=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921714	NM_002095.6(GTF2E2):c.281C>T (p.Thr94Met)	GTF2E2 (T94M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921234	NM_002095.6(GTF2E2):c.140G>C (p.Gly47Ala)	GTF2E2 (G47A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911026	NM_002095.6(GTF2E2):c.806G>A (p.Arg269His)	GTF2E2 (R269H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910587	NM_002095.6(GTF2E2):c.481C>T (p.Arg161Ter)	GTF2E2 (R161*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1909576	NM_002095.6(GTF2E2):c.530A>G (p.Asn177Ser)	GTF2E2 (N177S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901946	NM_002095.6(GTF2E2):c.367-18A>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1808233	GRCh37/hg19 8p12(chr8:30459775-30564837)x1	GSR, GTF2E2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1668539	NM_002095.6(GTF2E2):c.546C>T (p.Val182=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656218	NM_002095.6(GTF2E2):c.420G>A (p.Lys140=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649365	NM_002095.6(GTF2E2):c.144G>A (p.Ser48=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1647046	NM_002095.6(GTF2E2):c.258+8C>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645099	NM_002095.6(GTF2E2):c.366+16A>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642304	NM_002095.6(GTF2E2):c.550-11C>A	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636786	NM_002095.6(GTF2E2):c.258+13C>T	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628220	NM_002095.6(GTF2E2):c.213T>C (p.Ser71=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625845	NM_002095.6(GTF2E2):c.687C>T (p.Asp229=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617070	NM_002095.6(GTF2E2):c.657G>A (p.Leu219=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613195	NM_002095.6(GTF2E2):c.549+10_549+11delinsTG	GTF2E2	Indel (intron variant)	not provided	GLikely benign
Select item 1599350	NM_002095.6(GTF2E2):c.198T>C (p.Ala66=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1589823	NM_002095.6(GTF2E2):c.264G>A (p.Arg88=)	GTF2E2	Single nucleotide variant (synonymous variant)	GTF2E2-related condition +1 more	GLikely benign
Select item 1577341	NM_002095.6(GTF2E2):c.167-4G>A	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576704	NM_002095.6(GTF2E2):c.759+8A>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568004	NM_002095.6(GTF2E2):c.282G>A (p.Thr94=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564906	NM_002095.6(GTF2E2):c.451C>T (p.Leu151=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561699	NM_002095.6(GTF2E2):c.318A>C (p.Thr106=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558716	NM_002095.6(GTF2E2):c.849T>C (p.Asp283=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542289	NM_002095.6(GTF2E2):c.30G>A (p.Glu10=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535838	NM_002095.6(GTF2E2):c.549+14T>C	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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