ClinVar for Gene (Select 345930) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274466	NM_001077706.3(ECT2L):c.1583G>A (p.Arg528Lys)	ECT2L (R528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274465	NM_001077706.3(ECT2L):c.1186C>T (p.Leu396Phe)	ECT2L (L396F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274464	NM_001077706.3(ECT2L):c.2566G>A (p.Glu856Lys)	ECT2L (E856K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274463	NM_001077706.3(ECT2L):c.880T>C (p.Ser294Pro)	ECT2L (S294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274462	NM_001077706.3(ECT2L):c.1208T>C (p.Ile403Thr)	ECT2L (I403T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274461	NM_001077706.3(ECT2L):c.941T>C (p.Val314Ala)	ECT2L (V314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274460	NM_001077706.3(ECT2L):c.2678T>C (p.Val893Ala)	ECT2L (V893A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087111	NM_001077706.3(ECT2L):c.979T>C (p.Tyr327His)	ECT2L (Y327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087110	NM_001077706.3(ECT2L):c.859C>T (p.Arg287Trp)	ECT2L (R287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087109	NM_001077706.3(ECT2L):c.693G>C (p.Arg231Ser)	ECT2L (R231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087108	NM_001077706.3(ECT2L):c.382T>C (p.Phe128Leu)	ECT2L (F128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087107	NM_001077706.3(ECT2L):c.367G>A (p.Val123Ile)	ECT2L (V123I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3087106	NM_001077706.3(ECT2L):c.2222T>C (p.Ile741Thr)	ECT2L (I741T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087105	NM_001077706.3(ECT2L):c.2073T>A (p.His691Gln)	ECT2L (H691Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087104	NM_001077706.3(ECT2L):c.2011C>G (p.Leu671Val)	ECT2L, LOC129997295 (L671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087103	NM_001077706.3(ECT2L):c.1934G>T (p.Cys645Phe)	ECT2L, LOC129997295 (C645F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087102	NM_001077706.3(ECT2L):c.1327G>T (p.Ala443Ser)	ECT2L (A443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2615253	NM_001077706.3(ECT2L):c.481G>A (p.Ala161Thr)	ECT2L (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608404	NM_001077706.3(ECT2L):c.260T>C (p.Leu87Pro)	ECT2L (L87P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607361	NM_001077706.3(ECT2L):c.263A>G (p.Tyr88Cys)	ECT2L (Y88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598398	NM_001077706.3(ECT2L):c.1313C>T (p.Ser438Phe)	ECT2L (S438F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589861	NM_001077706.3(ECT2L):c.812A>G (p.Asn271Ser)	ECT2L (N271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551035	NM_001077706.3(ECT2L):c.1289A>C (p.His430Pro)	ECT2L (H430P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548764	NM_001077706.3(ECT2L):c.2257C>G (p.Gln753Glu)	ECT2L (Q753E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533621	NM_001077706.3(ECT2L):c.1201G>T (p.Ala401Ser)	ECT2L (A401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531296	NM_001077706.3(ECT2L):c.2252T>C (p.Ile751Thr)	ECT2L (I751T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523871	NM_001077706.3(ECT2L):c.52T>C (p.Ser18Pro)	ECT2L (S18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517284	NM_001077706.3(ECT2L):c.986T>C (p.Ile329Thr)	ECT2L (I329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477972	NM_001077706.3(ECT2L):c.2200C>T (p.Arg734Cys)	ECT2L (R734C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468498	NM_001077706.3(ECT2L):c.2201G>A (p.Arg734His)	ECT2L (R734H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461032	NM_001077706.3(ECT2L):c.1309G>A (p.Gly437Arg)	ECT2L (G437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455602	NM_001077706.3(ECT2L):c.1997A>G (p.Asn666Ser)	ECT2L, LOC129997295 (N666S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407577	NM_001077706.3(ECT2L):c.1594G>C (p.Glu532Gln)	ECT2L (E532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403254	NM_001077706.3(ECT2L):c.1901G>C (p.Arg634Thr)	ECT2L, LOC129997295 (R634T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389995	NM_001077706.3(ECT2L):c.1814C>G (p.Ala605Gly)	ECT2L (A605G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379944	NM_001077706.3(ECT2L):c.887G>A (p.Arg296Gln)	ECT2L (R296Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373104	NM_001077706.3(ECT2L):c.1482T>G (p.Phe494Leu)	ECT2L (F494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362195	NM_001077706.3(ECT2L):c.1244C>T (p.Thr415Met)	ECT2L (T415M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348343	NM_001077706.3(ECT2L):c.876A>C (p.Leu292Phe)	ECT2L (L292F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343768	NM_001077706.3(ECT2L):c.743C>T (p.Ser248Leu)	ECT2L (S248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333659	NM_001077706.3(ECT2L):c.2312T>C (p.Ile771Thr)	ECT2L (I771T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331454	NM_001077706.3(ECT2L):c.1113A>T (p.Arg371Ser)	ECT2L (R371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327279	NM_001077706.3(ECT2L):c.2057C>A (p.Thr686Asn)	ECT2L (T686N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309133	NM_001077706.3(ECT2L):c.1351G>A (p.Glu451Lys)	ECT2L (E451K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302015	NM_001077706.3(ECT2L):c.2586G>C (p.Lys862Asn)	ECT2L (K862N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285058	NM_001077706.3(ECT2L):c.512A>G (p.Lys171Arg)	ECT2L (K171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275038	NM_001077706.3(ECT2L):c.1015C>G (p.Gln339Glu)	ECT2L (Q339E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266964	NM_001077706.3(ECT2L):c.2165C>T (p.Ala722Val)	ECT2L (A722V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240655	NM_001077706.3(ECT2L):c.2705T>C (p.Met902Thr)	ECT2L (M902T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234235	NM_001077706.3(ECT2L):c.2347T>C (p.Tyr783His)	ECT2L (Y783H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229574	NM_001077706.3(ECT2L):c.835G>T (p.Asp279Tyr)	ECT2L (D279Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222718	NM_001077706.3(ECT2L):c.1175T>C (p.Phe392Ser)	ECT2L (F392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222658	NM_001077706.3(ECT2L):c.2480G>A (p.Arg827Gln)	ECT2L (R827Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218342	NM_001077706.3(ECT2L):c.1684G>A (p.Asp562Asn)	ECT2L (D562N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215682	NM_001077706.3(ECT2L):c.1760T>C (p.Ile587Thr)	ECT2L (I587T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212557	NM_001077706.3(ECT2L):c.1364A>G (p.Gln455Arg)	ECT2L (Q455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809145	GRCh37/hg19 6q24.1(chr6:139063032-139273184)x3	CCDC28A, ECT2L +1 more	Copy number gain	not provided	GUncertain significance
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1527297	GRCh37/hg19 6q24.1(chr6:139093282-140660265)	ABRACL, CCDC28A +5 more	Copy number gain	not specified	GUncertain significance
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 810048	GRCh37/hg19 6q24.1(chr6:139206643-139206967)x0	ECT2L	Copy number loss	not provided	GUncertain significance
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 135515	NM_001077706.3(ECT2L):c.1579-1G>C	ECT2L	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 135514	NM_001077706.3(ECT2L):c.1070-1G>C	ECT2L	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 134017	NM_001077706.3(ECT2L):c.1145C>A (p.Ala382Asp)	ECT2L (A382D)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134016	NM_001077706.3(ECT2L):c.1135A>T (p.Ser379Cys)	ECT2L (S379C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134015	NM_001077706.3(ECT2L):c.1051G>A (p.Glu351Lys)	ECT2L (E351K)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134014	NM_001077706.3(ECT2L):c.910A>G (p.Met304Val)	ECT2L (M304V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134013	NM_001077706.3(ECT2L):c.958_959inv (p.Val320Thr)	ECT2L (V320T)	Inversion (missense variant)	not specified	Gnot provided
Select item 134012	NM_001077706.3(ECT2L):c.839A>G (p.Asp280Gly)	ECT2L (D280G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134011	NM_001077706.3(ECT2L):c.649G>A (p.Val217Met)	ECT2L (V217M)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134010	NM_001077706.3(ECT2L):c.614G>A (p.Arg205Gln)	ECT2L (R205Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134009	NM_001077706.3(ECT2L):c.713A>C (p.Glu238Ala)	ECT2L (E238A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134008	NM_001077706.3(ECT2L):c.437T>C (p.Ile146Thr)	ECT2L (I146T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134007	NM_001077706.3(ECT2L):c.452A>G (p.His151Arg)	ECT2L (H151R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134006	NM_001077706.3(ECT2L):c.272C>T (p.Ser91Phe)	ECT2L (S91F)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134005	NM_001077706.3(ECT2L):c.145G>A (p.Ala49Thr)	ECT2L (A49T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134004	NM_001077706.3(ECT2L):c.2615G>A (p.Gly872Asp)	ECT2L (G872D)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134003	NM_001077706.3(ECT2L):c.2555G>A (p.Arg852Gln)	ECT2L (R852Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134002	NM_001077706.3(ECT2L):c.2479C>T (p.Arg827Trp)	ECT2L (R827W)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134001	NM_001077706.3(ECT2L):c.12C>A (p.Phe4Leu)	ECT2L (F4L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134000	NM_001077706.3(ECT2L):c.2227C>T (p.Gln743Ter)	ECT2L (Q743*)	Single nucleotide variant (nonsense)	not specified	Gnot provided
Select item 133999	NM_001077706.3(ECT2L):c.2191C>T (p.His731Tyr)	ECT2L (H731Y)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133998	NM_001077706.3(ECT2L):c.2180C>T (p.Thr727Ile)	ECT2L (T727I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133997	NM_001077706.3(ECT2L):c.2028+1_2028+9del	ECT2L, LOC129997295	Deletion (splice donor variant)	not specified	Gnot provided
Select item 133996	NM_001077706.3(ECT2L):c.1709T>C (p.Val570Ala)	ECT2L (V570A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133995	NM_001077706.3(ECT2L):c.1780G>A (p.Ala594Thr)	ECT2L (A594T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133994	NM_001077706.3(ECT2L):c.1802C>T (p.Ser601Leu)	ECT2L (S601L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133993	NM_001077706.3(ECT2L):c.1739A>G (p.Lys580Arg)	ECT2L (K580R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133992	NM_001077706.3(ECT2L):c.1672A>C (p.Ile558Leu)	ECT2L (I558L)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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