ClinVar for MedGen (Select 1779966) - ClinVar

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Items: 28

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25826421.	NM_003070.5(SMARCA2):c.-37+1G>T GRCh37: Chr9:2015405 GRCh38: Chr9:2015405	SMARCA2		Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Uncertain significance (Aug 20, 2023)	criteria provided, single submitter
Select item 25000892.	NM_003070.5(SMARCA2):c.4295_4296insCAAGGAAAGAATTAC (p.Ser1432_Arg1433insLysGluArgIleThr) GRCh37: Chr9:2181611-2181612 GRCh38: Chr9:2181611-2181612	SMARCA2		Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 19923433.	NM_003070.5(SMARCA2):c.1874C>T (p.Pro625Leu) GRCh37: Chr9:2073339 GRCh38: Chr9:2073339	SMARCA2	P625L	Blepharophimosis-impaired intellectual development syndrome	Likely pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 18785344.	NM_003070.5(SMARCA2):c.1541A>G (p.Tyr514Cys) GRCh37: Chr9:2060835 GRCh38: Chr9:2060835	SMARCA2	Y514C	Blepharophimosis-impaired intellectual development syndrome	Uncertain significance	criteria provided, single submitter
Select item 18052275.	NM_003070.5(SMARCA2):c.2870A>G (p.Gln957Arg) GRCh37: Chr9:2088600 GRCh38: Chr9:2088600	SMARCA2	Q899R, Q957R	Blepharophimosis-impaired intellectual development syndrome	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 18026156.	NM_003070.5(SMARCA2):c.2296C>G (p.Leu766Val) GRCh37: Chr9:2081943 GRCh38: Chr9:2081943	SMARCA2	L766V	Blepharophimosis-impaired intellectual development syndrome	Uncertain significance (Nov 29, 2022)	criteria provided, single submitter
Select item 16796747.	NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) GRCh37: Chr9:2039742 GRCh38: Chr9:2039742	SMARCA2	T211M	Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome, Inborn genetic diseases	Uncertain significance (Jul 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14827188.	NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu) GRCh37: Chr9:2191379 GRCh38: Chr9:2191379	SMARCA2	F228L, F1494L, F1552L, F1570L, F256L, F258L	Blepharophimosis-impaired intellectual development syndrome, not provided, Nicolaides-Baraitser syndrome	Conflicting interpretations of pathogenicity (Dec 6, 2022)	criteria provided, conflicting interpretations
Select item 12712669.	NM_003070.5(SMARCA2):c.3079-25T>A GRCh37: Chr9:2101545 GRCh38: Chr9:2101545	SMARCA2		Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122680810.	NM_003070.5(SMARCA2):c.4199+46C>T GRCh37: Chr9:2161949 GRCh38: Chr9:2161949	SMARCA2		Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118543111.	NM_003070.5(SMARCA2):c.4360-79A>G GRCh37: Chr9:2182062 GRCh38: Chr9:2182062	SMARCA2		not provided, Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118543012.	NM_003070.5(SMARCA2):c.1347+16_1347+17insT GRCh37: Chr9:2056861-2056862 GRCh38: Chr9:2056861-2056862	SMARCA2		not provided, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98285913.	NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) GRCh37: Chr9:2110275 GRCh38: Chr9:2110275	SMARCA2	R1047H, R1105H	Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Pathogenic (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82981414.	NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) GRCh37: Chr9:2060868 GRCh38: Chr9:2060868	SMARCA2	R525H	Blepharophimosis-impaired intellectual development syndrome, not provided, Intellectual disability	Pathogenic/Likely pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82981315.	NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) GRCh37: Chr9:2058457 GRCh38: Chr9:2058457	SMARCA2	R505Q	not provided, Inborn genetic diseases	Pathogenic/Likely pathogenic (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82981116.	NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) GRCh37: Chr9:2060867 GRCh38: Chr9:2060867	SMARCA2	R525C	not provided	Pathogenic (Sep 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82777317.	NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu) GRCh37: Chr9:2088540 GRCh38: Chr9:2088540	SMARCA2	R879L, R937L	Blepharophimosis-impaired intellectual development syndrome, Intellectual disability	Pathogenic/Likely pathogenic (Apr 30, 2021)	no assertion criteria provided
Select item 82777018.	NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) GRCh37: Chr9:2088516 GRCh38: Chr9:2088516	SMARCA2	E871V, E929V	Intellectual disability	Likely pathogenic (Sep 10, 2020)	criteria provided, single submitter
Select item 80245619.	NM_003070.5(SMARCA2):c.4253+40G>C GRCh37: Chr9:2170512 GRCh38: Chr9:2170512	SMARCA2		Blepharophimosis-impaired intellectual development syndrome, not provided, Nicolaides-Baraitser syndrome	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58898320.	NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) GRCh37: Chr9:2047325 GRCh38: Chr9:2047325	SMARCA2	Q296P	Inborn genetic diseases, Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58890921.	NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) GRCh37: Chr9:2039790 GRCh38: Chr9:2039790	SMARCA2	Q227P	Inborn genetic diseases, Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Benign/Likely benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58866822.	NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=) GRCh37: Chr9:2191402 GRCh38: Chr9:2191402	SMARCA2		Inborn genetic diseases, not provided, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58796323.	NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) GRCh37: Chr9:2039776-2039777 GRCh38: Chr9:2039776-2039777	SMARCA2		Inborn genetic diseases, not provided, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Benign/Likely benign (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36632024.	NM_003070.5(SMARCA2):c.4595-7G>C GRCh37: Chr9:2191259 GRCh38: Chr9:2191259	SMARCA2		not provided, Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Benign/Likely benign (Nov 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36619525.	NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) GRCh37: Chr9:2032972 GRCh38: Chr9:2032972	SMARCA2		Inborn genetic diseases, not provided, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12635326.	NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) GRCh37: Chr9:2039777-2039779 GRCh38: Chr9:2039777-2039779	SMARCA2	Q238del	Inborn genetic diseases, not specified, not provided, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12634927.	NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) GRCh37: Chr9:2191309 GRCh38: Chr9:2191309	SMARCA2	D1546E, D1470E, D204E, D1528E, D232E, D234E	Inborn genetic diseases, not provided, Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6876228.	NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys) GRCh37: Chr9:2086856 GRCh38: Chr9:2086856	SMARCA2	E852K	not provided	Pathogenic (May 24, 2017)	criteria provided, single submitter

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Items: 28