GTF2E2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 215

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 151191	GRCh38/hg38 8p12(chr8:30368765-36421541)x3	DUSP26, FUT10 +83 more	Copy number gain	See cases	GUncertain significance
Select item 1450425	NM_002095.6(GTF2E2):c.866C>G (p.Ser289Cys)	GTF2E2 (S289C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558716	NM_002095.6(GTF2E2):c.849T>C (p.Asp283=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1461300	NM_002095.6(GTF2E2):c.832G>T (p.Ala278Ser)	GTF2E2 (A278S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944310	NM_002095.6(GTF2E2):c.822C>T (p.Asn274=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2053993	NM_002095.6(GTF2E2):c.805C>T (p.Arg269Cys)	GTF2E2 (R269C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1396406	NM_002095.6(GTF2E2):c.766A>G (p.Ile256Val)	GTF2E2 (I256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777825	NM_002095.6(GTF2E2):c.760-19T>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265647	NM_002095.6(GTF2E2):c.760-225G>A	GTF2E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261800	NM_002095.6(GTF2E2):c.760-298G>A	GTF2E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288094	NM_002095.6(GTF2E2):c.759+159G>A	GTF2E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2991583	NM_002095.6(GTF2E2):c.759+16C>T	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 2173742	NM_002095.6(GTF2E2):c.759+4C>T	GTF2E2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867277	NM_002095.6(GTF2E2):c.750A>G (p.Pro250=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409883	NM_002095.6(GTF2E2):c.749C>G (p.Pro250Arg)	GTF2E2 (P250R)	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 1407427	NM_002095.6(GTF2E2):c.688G>A (p.Glu230Lys)	GTF2E2 (E230K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625845	NM_002095.6(GTF2E2):c.687C>T (p.Asp229=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2978221	NM_002095.6(GTF2E2):c.678T>C (p.Asp226=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409900	NM_002095.6(GTF2E2):c.673G>A (p.Val225Ile)	GTF2E2 (V225I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617070	NM_002095.6(GTF2E2):c.657G>A (p.Leu219=)	GTF2E2	Single nucleotide variant (synonymous 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 2277363	NM_002095.6(GTF2E2):c.604T>C (p.Phe202Leu)	GTF2E2 (F202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1412449	NM_002095.6(GTF2E2):c.590A>G (p.Lys197Arg)	GTF2E2 (K197R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 743424	NM_002095.6(GTF2E2):c.585C>T (p.Pro195=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1145648	NM_002095.6(GTF2E2):c.568C>T (p.Leu190=)	GTF2E2	Single nucleotide variant (synonymous 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 225841	NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr)	GTF2E2 (D187Y)	Single nucleotide variant (missense variant)	Trichothiodystrophy 6, nonphotosensitive	GPathogenic
Select item 1934120	NM_002095.6(GTF2E2):c.550-10T>C	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 1180318	NM_002095.6(GTF2E2):c.550-66dup	GTF2E2	Duplication (intron variant)	not provided	GBenign
Select item 1273809	NM_002095.6(GTF2E2):c.550-53del	GTF2E2	Deletion (intron variant)	not provided	GBenign
Select item 1236446	NM_002095.6(GTF2E2):c.550-125A>T	GTF2E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279812	NM_002095.6(GTF2E2):c.549+102A>G	GTF2E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1535838	NM_002095.6(GTF2E2):c.549+14T>C	GTF2E2	Single nucleotide variant (intron 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 1170214	NM_002095.6(GTF2E2):c.549+11T>G	GTF2E2	Single nucleotide variant (intron variant)	Trichothiodystrophy 6, nonphotosensitive +1 more	GBenign
Select item 1509605	NM_002095.6(GTF2E2):c.549+6C>T	GTF2E2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 709102	NM_002095.6(GTF2E2):c.549+5T>C	GTF2E2	Single nucleotide variant (intron variant)	GTF2E2-related disorder +1 more	GBenign/Likely benign
Select item 1042797	NM_002095.6(GTF2E2):c.548A>T (p.Lys183Met)	GTF2E2 (K183M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715909	NM_002095.6(GTF2E2):c.548A>G (p.Lys183Arg)	GTF2E2 (K183R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1668539	NM_002095.6(GTF2E2):c.546C>T (p.Val182=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401704	NM_002095.6(GTF2E2):c.533C>T (p.Ser178Phe)	GTF2E2 (S178F)	Single nucleotide variant (missense variant)	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 2890892	NM_002095.6(GTF2E2):c.528C>T (p.Pro176=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 739249	NM_002095.6(GTF2E2):c.525G>T (p.Leu175=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021059	NM_002095.6(GTF2E2):c.490GGA[1] (p.Gly165del)	GTF2E2 (G165del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1386173	NM_002095.6(GTF2E2):c.484G>A (p.Gly162Arg)	GTF2E2 (G162R)	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 2792635	NM_002095.6(GTF2E2):c.477C>T (p.Asp159=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353368	NM_002095.6(GTF2E2):c.473A>G (p.His158Arg)	GTF2E2 (H158R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012799	NM_002095.6(GTF2E2):c.453A>G (p.Leu151=)	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 2178213	NM_002095.6(GTF2E2):c.450C>G (p.Ala150=)	GTF2E2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 225840	NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro)	GTF2E2 (A150P)	Single nucleotide variant (missense variant)	Trichothiodystrophy 6, nonphotosensitive	GPathogenic
Select item 1026029	NM_002095.6(GTF2E2):c.433G>A (p.Val145Met)	GTF2E2 (V145M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3