EXTL3[gene] - ClinVar - NCBI

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	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	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +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	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	RHOBTB2, SCARA3 +523 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	GPAT4, GPAT4-AS1 +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	LOC110121196, LOC110121233 +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 2789191	NM_001440.4(EXTL3):c.2T>C (p.Met1Thr)	EXTL3 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1917970	NM_001440.4(EXTL3):c.6dup (p.Gly3fs)	EXTL3 (G3fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1998789	NM_001440.4(EXTL3):c.6A>G (p.Thr2=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713648	NM_001440.4(EXTL3):c.9C>T (p.Gly3=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2005393	NM_001440.4(EXTL3):c.18G>A (p.Met6Ile)	EXTL3 (M6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033843	NM_001440.4(EXTL3):c.22C>T (p.Arg8Trp)	EXTL3 (R8W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1408751	NM_001440.4(EXTL3):c.25A>G (p.Asn9Asp)	EXTL3 (N9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969312	NM_001440.4(EXTL3):c.30G>T (p.Gly10=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058043	NM_001440.4(EXTL3):c.33C>T (p.Gly11=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1986251	NM_001440.4(EXTL3):c.35C>T (p.Ala12Val)	EXTL3 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593270	NM_001440.4(EXTL3):c.36G>A (p.Ala12=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 739293	NM_001440.4(EXTL3):c.42C>T (p.Asn14=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668670	NM_001440.4(EXTL3):c.45A>T (p.Gly15=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856719	NM_001440.4(EXTL3):c.61C>T (p.Leu21=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487985	NM_001440.4(EXTL3):c.64C>T (p.Arg22Cys)	EXTL3 (R22C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483011	NM_001440.4(EXTL3):c.65G>A (p.Arg22His)	EXTL3 (R22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357569	NM_001440.4(EXTL3):c.76C>T (p.Arg26Cys)	EXTL3 (R26C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358846	NM_001440.4(EXTL3):c.77G>A (p.Arg26His)	EXTL3 (R26H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1494781	NM_001440.4(EXTL3):c.79A>G (p.Ile27Val)	EXTL3 (I27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166276	NM_001440.4(EXTL3):c.82C>T (p.Arg28Cys)	EXTL3 (R28C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2097910	NM_001440.4(EXTL3):c.82C>G (p.Arg28Gly)	EXTL3 (R28G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174796	NM_001440.4(EXTL3):c.83G>A (p.Arg28His)	EXTL3 (R28H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358371	NM_001440.4(EXTL3):c.97A>T (p.Ser33Cys)	EXTL3 (S33C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431676	NM_001440.4(EXTL3):c.104C>T (p.Thr35Met)	EXTL3 (T35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001411	NM_001440.4(EXTL3):c.105G>A (p.Thr35=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166405	NM_001440.4(EXTL3):c.108C>G (p.Leu36=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981927	NM_001440.4(EXTL3):c.114C>T (p.Val38=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401974	NM_001440.4(EXTL3):c.115A>T (p.Ile39Phe)	EXTL3 (I39F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895223	NM_001440.4(EXTL3):c.117C>T (p.Ile39=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804598	NM_001440.4(EXTL3):c.123C>G (p.Val41=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052631	NM_001440.4(EXTL3):c.132_133insAAG (p.Pro44_Leu45insLys)	EXTL3	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1604954	NM_001440.4(EXTL3):c.132G>C (p.Pro44=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860074	NM_001440.4(EXTL3):c.135C>T (p.Leu45=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595325	NM_001440.4(EXTL3):c.138C>T (p.Ile46=)	EXTL3	Single nucleotide variant (synonymous variant)	EXTL3-related condition +1 more	GLikely benign
Select item 1578954	NM_001440.4(EXTL3):c.141C>T (p.Ala47=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101031	NM_001440.4(EXTL3):c.153C>T (p.Leu51=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157029	NM_001440.4(EXTL3):c.156C>G (p.Thr52=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372161	NM_001440.4(EXTL3):c.171_179dup (p.55DEA[3])	EXTL3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1401634	NM_001440.4(EXTL3):c.174T>G (p.Asp58Glu)	EXTL3 (D58E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567939	NM_001440.4(EXTL3):c.183C>G (p.Gly61=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398947	NM_001440.4(EXTL3):c.185A>G (p.Lys62Arg)	EXTL3 (K62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397775	NM_001440.4(EXTL3):c.187C>T (p.Arg63Trp)	EXTL3 (R63W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031697	NM_001440.4(EXTL3):c.189G>A (p.Arg63=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932787	NM_001440.4(EXTL3):c.195T>C (p.Phe65=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563407	NM_001440.4(EXTL3):c.201C>G (p.Pro67=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186103	NM_001440.4(EXTL3):c.206T>C (p.Val69Ala)	EXTL3 (V69A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631640	NM_001440.4(EXTL3):c.213C>T (p.Asn71=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027269	NM_001440.4(EXTL3):c.216G>A (p.Glu72=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709101	NM_001440.4(EXTL3):c.219G>C (p.Leu73=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186883	NM_001440.4(EXTL3):c.222C>T (p.Cys74=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976927	NM_001440.4(EXTL3):c.223G>A (p.Glu75Lys)	EXTL3 (E75K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598039	NM_001440.4(EXTL3):c.231G>A (p.Lys77=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726184	NM_001440.4(EXTL3):c.234C>T (p.His78=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441253	NM_001440.4(EXTL3):c.235G>A (p.Val79Met)	EXTL3 (V79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615160	NM_001440.4(EXTL3):c.238C>T (p.Leu80=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667936	NM_001440.4(EXTL3):c.243T>C (p.Asp81=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510518	NM_001440.4(EXTL3):c.250C>T (p.Arg84Cys)	EXTL3 (R84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2262553	NM_001440.4(EXTL3):c.251G>A (p.Arg84His)	EXTL3 (R84H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2867718	NM_001440.4(EXTL3):c.252C>T (p.Arg84=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616921	NM_001440.4(EXTL3):c.255C>G (p.Ile85Met)	EXTL3 (I85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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