ClinVar for MedGen (Select 934800) - ClinVar

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Items: 52

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26268851.	NM_022893.4(BCL11A):c.875del (p.His292fs) GRCh37: Chr2:60689172 GRCh38: Chr2:60462037	BCL11A	H140fs, H181fs, H206fs, H240fs, H258fs, H292fs	Dias-Logan syndrome	Pathogenic (Aug 14, 2023)	criteria provided, single submitter
Select item 25745722.	NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp) GRCh37: Chr2:60689490 GRCh38: Chr2:60462355	BCL11A	L100W, L134W, L152W, L186W, L221W, L34W, L75W	Dias-Logan syndrome	Uncertain significance (Aug 1, 2023)	criteria provided, single submitter
Select item 25733343.	NM_022893.4(BCL11A):c.515G>C (p.Cys172Ser) GRCh37: Chr2:60689532 GRCh38: Chr2:60462397	BCL11A	C120S, C138S, C172S, C207S, C20S, C61S, C86S	Dias-Logan syndrome	Uncertain significance (Jul 22, 2023)	criteria provided, single submitter
Select item 25722384.	NM_022893.4(BCL11A):c.176A>T (p.Asp59Val) GRCh37: Chr2:60773315 GRCh38: Chr2:60546180	BCL11A	D59V, D7V, D94V	Dias-Logan syndrome	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 25706065.	NM_022893.4(BCL11A):c.1486G>T (p.Glu496Ter) GRCh37: Chr2:60688561 GRCh38: Chr2:60461426	BCL11A	E344, E462, E531, E385, E165, E265, E317, E410, E444, E496	Dias-Logan syndrome	Pathogenic	criteria provided, single submitter
Select item 25008866.	NM_022893.4(BCL11A):c.1504G>T (p.Glu502Ter) GRCh37: Chr2:60688543 GRCh38: Chr2:60461408	BCL11A	E171, E271, E323, E350, E391, E416, E450, E468, E502, E537	Dias-Logan syndrome	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 24994687.	NM_001386298.1(CIC):c.6584G>A (p.Arg2195His) GRCh37: Chr19:42797805 GRCh38: Chr19:42293653	CIC, PAFAH1B3	R1286H, R2194H, R2195H	Dias-Logan syndrome, Intellectual disability, autosomal dominant 45	Uncertain significance (Apr 19, 2023)	criteria provided, single submitter
Select item 24994678.	NM_022893.4(BCL11A):c.1656C>T (p.Leu552=) GRCh37: Chr2:60688391 GRCh38: Chr2:60461256	BCL11A		Dias-Logan syndrome, Intellectual disability, autosomal dominant 45	Uncertain significance (Apr 19, 2023)	criteria provided, single submitter
Select item 24394919.	NM_022893.4(BCL11A):c.1625C>A (p.Ala542Asp) GRCh37: Chr2:60688422 GRCh38: Chr2:60461287	BCL11A	A211D, A311D, A363D, A390D, A431D, A456D, A490D, A508D, A542D, A566D	Dias-Logan syndrome	Uncertain significance (Jan 5, 2023)	criteria provided, single submitter
Select item 243949010.	NM_022893.4(BCL11A):c.1727C>T (p.Ala576Val) GRCh37: Chr2:60688320 GRCh38: Chr2:60461185	BCL11A	A245V, A345V, A397V, A424V, A465V, A490V, A524V, A542V, A576V, A600V	Dias-Logan syndrome	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 243948911.	NM_022893.4(BCL11A):c.1816G>A (p.Gly606Ser) GRCh37: Chr2:60688231 GRCh38: Chr2:60461096	BCL11A	G275S, G375S, G427S, G454S, G495S, G520S, G554S, G572S, G606S, G630S	Dias-Logan syndrome	Uncertain significance (Nov 21, 2019)	criteria provided, single submitter
Select item 243948812.	NM_022893.4(BCL11A):c.127C>T (p.His43Tyr) GRCh37: Chr2:60773364 GRCh38: Chr2:60546229	BCL11A	H43Y, H78Y	Dias-Logan syndrome	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 243948713.	NM_022893.4(BCL11A):c.134T>G (p.Leu45Arg) GRCh37: Chr2:60773357 GRCh38: Chr2:60546222	BCL11A	L45R, L80R	Dias-Logan syndrome	Uncertain significance (Sep 14, 2021)	criteria provided, single submitter
Select item 243948614.	NM_022893.4(BCL11A):c.2188C>A (p.Pro730Thr) GRCh37: Chr2:60687859 GRCh38: Chr2:60460724	BCL11A	P399T, P499T, P551T, P578T, P619T, P644T, P678T, P696T, P730T, P754T	Dias-Logan syndrome	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 180588215.	NM_022893.4(BCL11A):c.91C>G (p.Pro31Ala) GRCh37: Chr2:60773400 GRCh38: Chr2:60546265	BCL11A	P31A, P66A	Dias-Logan syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 180488516.	NM_022893.4(BCL11A):c.1589G>T (p.Arg530Leu) GRCh37: Chr2:60688458 GRCh38: Chr2:60461323	BCL11A	R199L, R299L, R351L, R378L, R419L, R444L, R478L, R496L, R530L	Dias-Logan syndrome	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 180410817.	NM_022893.4(BCL11A):c.759_769del (p.Leu254fs) GRCh37: Chr2:60689278-60689288 GRCh38: Chr2:60462143-60462153	BCL11A	L220fs, L254fs	Dias-Logan syndrome	Pathogenic (Nov 23, 2022)	criteria provided, single submitter
Select item 170973218.	NM_001363864.1(BCL11A):c.2281-2A>C GRCh37: Chr2:60679803 GRCh38: Chr2:60452668	BCL11A		Dias-Logan syndrome	Uncertain significance (Feb 7, 2023)	criteria provided, single submitter
Select item 170921219.	NM_022893.4(BCL11A):c.184del (p.Ile62fs) GRCh37: Chr2:60773307 GRCh38: Chr2:60546172	BCL11A	I62fs	Dias-Logan syndrome	Likely pathogenic (Nov 23, 2021)	criteria provided, single submitter
Select item 169886920.	NM_022893.4(BCL11A):c.1A>G (p.Met1Val) GRCh37: Chr2:60780405 GRCh38: Chr2:60553270	BCL11A	M1V	Neurodevelopmental delay, Dias-Logan syndrome	Pathogenic/Likely pathogenic (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 169647321.	NM_022893.4(BCL11A):c.1117C>T (p.Pro373Ser) GRCh37: Chr2:60688930 GRCh38: Chr2:60461795	BCL11A	P339S, P373S	Dias-Logan syndrome	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 168710422.	NM_022893.4(BCL11A):c.35T>G (p.Leu12Ter) GRCh37: Chr2:60780371 GRCh38: Chr2:60553236	BCL11A	L12*	Dias-Logan syndrome	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 168371523.	NM_022893.4(BCL11A):c.2138G>A (p.Arg713His) GRCh37: Chr2:60687909 GRCh38: Chr2:60460774	BCL11A	R679H, R713H	Dias-Logan syndrome	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 167941124.	NM_022893.4(BCL11A):c.3G>A (p.Met1Ile) GRCh37: Chr2:60780403 GRCh38: Chr2:60553268	BCL11A	M1I	Dias-Logan syndrome	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167511225.	NM_022893.4(BCL11A):c.15G>A (p.Lys5=) GRCh37: Chr2:60780391 GRCh38: Chr2:60553256	BCL11A		Dias-Logan syndrome	Uncertain significance (Jun 1, 2021)	criteria provided, single submitter
Select item 134233726.	NM_022893.4(BCL11A):c.1846_1847delinsA (p.Gly616fs) GRCh37: Chr2:60688200-60688201 GRCh38: Chr2:60461065-60461066	BCL11A	G582fs, G616fs	Dias-Logan syndrome	Pathogenic (Mar 8, 2021)	criteria provided, single submitter
Select item 133476027.	NM_022893.4(BCL11A):c.1118dup (p.Val374fs) GRCh37: Chr2:60688928-60688929 GRCh38: Chr2:60461793-60461794	BCL11A	V340fs, V374fs	Dias-Logan syndrome	Pathogenic (May 25, 2021)	criteria provided, single submitter
Select item 130137328.	NM_022893.4(BCL11A):c.1135del (p.Cys379fs) GRCh37: Chr2:60688912 GRCh38: Chr2:60461777	BCL11A	C345fs, C379fs	Dias-Logan syndrome	Likely pathogenic (Sep 28, 2021)	criteria provided, single submitter
Select item 129702329.	NM_022893.4(BCL11A):c.1519del (p.Glu507fs) GRCh37: Chr2:60688528 GRCh38: Chr2:60461393	BCL11A	E473fs, E507fs	Dias-Logan syndrome	Likely pathogenic (Jun 29, 2021)	criteria provided, single submitter
Select item 125195030.	NM_022893.4(BCL11A):c.1847del (p.Gly616fs) GRCh37: Chr2:60688200 GRCh38: Chr2:60461065	BCL11A	G582fs, G616fs	Dias-Logan syndrome	Likely pathogenic (Jun 24, 2021)	criteria provided, single submitter
Select item 103061831.	NM_018014.4(BCL11A):c.2303C>G (p.Ser768Trp) GRCh37: Chr2:60679729 GRCh38: Chr2:60452594	BCL11A	S768W, R235G, R785G, R149G, S589W, S682W, S716W, S734W, R201G, R767G, R819G, S437W, R183G, S792W	Dias-Logan syndrome	Uncertain significance (Jan 15, 2020)	criteria provided, single submitter
Select item 102986632.	NM_022893.4(BCL11A):c.142T>C (p.Cys48Arg) GRCh37: Chr2:60773349 GRCh38: Chr2:60546214	BCL11A	C48R	Dias-Logan syndrome	Uncertain significance (Jun 9, 2020)	criteria provided, single submitter
Select item 99248333.	NM_018014.4(BCL11A):c.2231-5dup GRCh37: Chr2:60679805-60679806 GRCh38: Chr2:60452670-60452671	BCL11A		not provided, Dias-Logan syndrome	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 98874734.	NM_022893.4(BCL11A):c.540_546del (p.Ser181fs) GRCh37: Chr2:60689501-60689507 GRCh38: Chr2:60462366-60462372	BCL11A	S147fs, S181fs	Dias-Logan syndrome	Likely pathogenic (Jul 27, 2020)	no assertion criteria provided
Select item 97635135.	NM_022893.4(BCL11A):c.1663A>T (p.Met555Leu) GRCh37: Chr2:60688384 GRCh38: Chr2:60461249	BCL11A	M521L, M555L	Dias-Logan syndrome	Pathogenic (Aug 28, 2018)	criteria provided, single submitter
Select item 97621136.	NM_022893.4(BCL11A):c.1283T>A (p.Met428Lys) GRCh37: Chr2:60688764 GRCh38: Chr2:60461629	BCL11A	M394K, M428K	Dias-Logan syndrome	Uncertain significance (Jul 6, 2017)	criteria provided, single submitter
Select item 97330737.	NM_022893.4(BCL11A):c.317C>T (p.Thr106Met) GRCh37: Chr2:60773174 GRCh38: Chr2:60546039	BCL11A	T106M	Dias-Logan syndrome	Uncertain significance (Oct 18, 2019)	criteria provided, single submitter
Select item 83405738.	NM_022893.4(BCL11A):c.1755C>A (p.Cys585Ter) GRCh37: Chr2:60688292 GRCh38: Chr2:60461157	BCL11A	C585, C551	Dias-Logan syndrome	Likely pathogenic	no assertion criteria provided
Select item 63258639.	NM_022893.4(BCL11A):c.295del (p.Val99fs) GRCh37: Chr2:60773196 GRCh38: Chr2:60546061	BCL11A	V99fs	Cerebellar vermis hypoplasia, Corpus callosum, agenesis of, Dias-Logan syndrome, Congenital cerebellar hypoplasia	Pathogenic/Likely pathogenic (Feb 18, 2019)	no assertion criteria provided
Select item 63258540.	NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) GRCh37: Chr2:60688416-60688446 GRCh38: Chr2:60461281-60461311	BCL11A	V500fs, V534fs	Congenital cerebellar hypoplasia, Dias-Logan syndrome	Pathogenic/Likely pathogenic (Feb 18, 2019)	no assertion criteria provided
Select item 62589341.	NM_022893.4(BCL11A):c.1078C>G (p.Leu360Val) GRCh37: Chr2:60688969 GRCh38: Chr2:60461834	BCL11A	L360V, L326V	Dias-Logan syndrome, Inborn genetic diseases	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55989042.	NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter) GRCh37: Chr2:60773298 GRCh38: Chr2:60546163	BCL11A	E65*	Marfanoid habitus and intellectual disability, Dias-Logan syndrome	Likely pathogenic (Jan 13, 2016)	criteria provided, single submitter
Select item 52185743.	NM_022893.4(BCL11A):c.385+2T>C GRCh37: Chr2:60773104 GRCh38: Chr2:60545969	BCL11A		Inborn genetic diseases, Dias-Logan syndrome	Pathogenic (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 50375844.	NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter) GRCh37: Chr2:60689518 GRCh38: Chr2:60462383	BCL11A	Q177, Q143	not provided	Pathogenic (Dec 6, 2018)	criteria provided, single submitter
Select item 49327845.	NM_022893.4(BCL11A):c.1925T>G (p.Phe642Cys) GRCh37: Chr2:60688122 GRCh38: Chr2:60460987	BCL11A	F642C, F608C	not provided, Dias-Logan syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 16, 2022)	criteria provided, conflicting interpretations
Select item 42688646.	NM_022893.4(BCL11A):c.1078dup (p.Leu360fs) GRCh37: Chr2:60688968-60688969 GRCh38: Chr2:60461833-60461834	BCL11A	L326fs, L360fs	Neurodevelopmental delay, See cases, not provided	Pathogenic (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25330547.	NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) GRCh37: Chr2:60773337 GRCh38: Chr2:60546202	BCL11A	Q52*	Dias-Logan syndrome	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 25330448.	NM_022893.4(BCL11A):c.1775_1776insTGG (p.Gly592dup) GRCh37: Chr2:60688271-60688272 GRCh38: Chr2:60461136-60461137	BCL11A		Dias-Logan syndrome	Pathogenic (Sep 8, 2016)	no assertion criteria provided
Select item 25330249.	NM_022893.4(BCL11A):c.198C>A (p.His66Gln) GRCh37: Chr2:60773293 GRCh38: Chr2:60546158	BCL11A	H66Q	Dias-Logan syndrome	Pathogenic (Sep 8, 2016)	no assertion criteria provided
Select item 25330150.	NM_022893.4(BCL11A):c.143G>T (p.Cys48Phe) GRCh37: Chr2:60773348 GRCh38: Chr2:60546213	BCL11A	C48F	Dias-Logan syndrome	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 25330051.	NM_022893.4(BCL11A):c.139A>C (p.Thr47Pro) GRCh37: Chr2:60773352 GRCh38: Chr2:60546217	BCL11A	T47P	Dias-Logan syndrome	Pathogenic (Sep 8, 2016)	no assertion criteria provided
Select item 12726552.	NM_022893.4(BCL11A):c.386-24278G>A GRCh37: Chr2:60720246 GRCh38: Chr2:60493111	BCL11A		not specified, Dias-Logan syndrome	Benign (Oct 28, 2020)	criteria provided, multiple submitters, no conflicts

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Items: 52