EXTL3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3091304	NM_001440.4(EXTL3):c.23G>A (p.Arg8Gln)	EXTL3 (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	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)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases +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)	not provided	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)	Inborn genetic diseases +1 more	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
Select item 1505971	NM_001440.4(EXTL3):c.257G>A (p.Arg86Gln)	EXTL3 (R86Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1349969	NM_001440.4(EXTL3):c.269G>A (p.Ser90Asn)	EXTL3 (S90N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709420	NM_001440.4(EXTL3):c.280C>T (p.Leu94=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496730	NM_001440.4(EXTL3):c.293C>G (p.Ala98Gly)	EXTL3 (A98G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607376	NM_001440.4(EXTL3):c.297G>A (p.Lys99=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013360	NM_001440.4(EXTL3):c.312C>T (p.Asn104=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511970	NM_001440.4(EXTL3):c.316G>A (p.Glu106Lys)	EXTL3 (E106K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614222	NM_001440.4(EXTL3):c.321C>T (p.Ile107=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026895	NM_001440.4(EXTL3):c.333T>C (p.Asn111=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039593	NM_001440.4(EXTL3):c.342C>A (p.Ile114=)	EXTL3	Single nucleotide variant (synonymous variant)	EXTL3-related disorder	GLikely benign
Select item 756034	NM_001440.4(EXTL3):c.342C>T (p.Ile114=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032794	NM_001440.4(EXTL3):c.348C>G (p.Ala116=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714769	NM_001440.4(EXTL3):c.361A>G (p.Ile121Val)	EXTL3 (I121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575075	NM_001440.4(EXTL3):c.369C>T (p.Asn123=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901675	NM_001440.4(EXTL3):c.393C>G (p.Leu131=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173627	NM_001440.4(EXTL3):c.397A>G (p.Asn133Asp)	EXTL3 (N133D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 760050	NM_001440.4(EXTL3):c.414C>T (p.Thr138=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508456	NM_001440.4(EXTL3):c.415G>A (p.Glu139Lys)	EXTL3 (E139K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917404	NM_001440.4(EXTL3):c.435C>T (p.Leu145=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115733	NM_001440.4(EXTL3):c.437T>C (p.Met146Thr)	EXTL3 (M146T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960512	NM_001440.4(EXTL3):c.451C>T (p.Pro151Ser)	EXTL3 (P151S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466909	NM_001440.4(EXTL3):c.451C>A (p.Pro151Thr)	EXTL3 (P151T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821641	NM_001440.4(EXTL3):c.462C>T (p.Ser154=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759259	NM_001440.4(EXTL3):c.462C>G (p.Ser154=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574653	NM_001440.4(EXTL3):c.465G>T (p.Leu155=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839175	NM_001440.4(EXTL3):c.467C>T (p.Pro156Leu)	EXTL3 (P156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996966	NM_001440.4(EXTL3):c.472C>T (p.Arg158Ter)	EXTL3 (R158*)	Single nucleotide variant (nonsense)	Immunoskeletal dysplasia with neurodevelopmental abnormalities	GLikely pathogenic
Select item 1135431	NM_001440.4(EXTL3):c.473G>A (p.Arg158Gln)	EXTL3 (R158Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1595098	NM_001440.4(EXTL3):c.474A>T (p.Arg158=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117919	NM_001440.4(EXTL3):c.476T>C (p.Leu159Pro)	EXTL3 (L159P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655668	NM_001440.4(EXTL3):c.477G>T (p.Leu159=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672338	NM_001440.4(EXTL3):c.492C>T (p.Asp164=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276874	NM_001440.4(EXTL3):c.493G>A (p.Asp165Asn)	EXTL3 (D165N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922807	NM_001440.4(EXTL3):c.497C>T (p.Ala166Val)	EXTL3 (A166V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594244	NM_001440.4(EXTL3):c.498C>T (p.Ala166=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908182	NM_001440.4(EXTL3):c.499G>A (p.Gly167Ser)	EXTL3 (G167S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541250	NM_001440.4(EXTL3):c.501C>T (p.Gly167=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987967	NM_001440.4(EXTL3):c.504C>T (p.Leu168=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575654	NM_001440.4(EXTL3):c.510C>A (p.Pro170=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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