ClinVar for MedGen (Select 1779966) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582642	NM_003070.5(SMARCA2):c.-37+1G>T	SMARCA2	Single nucleotide variant (splice donor variant)	Blepharophimosis-impaired intellectual development syndrome +1 more	GUncertain significance
Select item 2500089	NM_003070.5(SMARCA2):c.4295_4296insCAAGGAAAGAATTAC (p.Ser1432_Arg1433insLysGluArgIleThr)	SMARCA2	Insertion (inframe_indel +1 more)	Blepharophimosis-impaired intellectual development syndrome +1 more	GUncertain significance
Select item 1992343	NM_003070.5(SMARCA2):c.1874C>T (p.Pro625Leu)	SMARCA2 (P625L)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome	GLikely pathogenic
Select item 1878534	NM_003070.5(SMARCA2):c.1541A>G (p.Tyr514Cys)	SMARCA2 (Y514C)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome	GUncertain significance
Select item 1805227	NM_003070.5(SMARCA2):c.2870A>G (p.Gln957Arg)	SMARCA2 (Q899R +1 more)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome	GLikely pathogenic
Select item 1802615	NM_003070.5(SMARCA2):c.2296C>G (p.Leu766Val)	SMARCA2 (L766V)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome	GUncertain significance
Select item 1679674	NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met)	SMARCA2 (T211M)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GUncertain significance
Select item 1482718	NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu)	SMARCA2 (F228L +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1271266	NM_003070.5(SMARCA2):c.3079-25T>A	SMARCA2	Single nucleotide variant (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 1226808	NM_003070.5(SMARCA2):c.4199+46C>T	SMARCA2	Single nucleotide variant (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 1185431	NM_003070.5(SMARCA2):c.4360-79A>G	SMARCA2	Single nucleotide variant (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 1185430	NM_003070.5(SMARCA2):c.1347+16_1347+17insT	SMARCA2	Insertion (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 982859	NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)	SMARCA2 (R1047H +1 more)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +1 more	GPathogenic
Select item 829814	NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His)	SMARCA2 (R525H)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GPathogenic/Likely pathogenic
Select item 829813	NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)	SMARCA2 (R505Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 829811	NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys)	SMARCA2 (R525C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 827773	NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu)	SMARCA2 (R879L +1 more)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +1 more	GPathogenic/Likely pathogenic
Select item 827770	NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val)	SMARCA2 (E871V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 802456	NM_003070.5(SMARCA2):c.4253+40G>C	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome +2 more	GBenign
Select item 588983	NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro)	SMARCA2 (Q296P)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GUncertain significance
Select item 588909	NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro)	SMARCA2 (Q227P)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 588668	NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +3 more	GBenign/Likely benign
Select item 587963	NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)	SMARCA2	Microsatellite (inframe_insertion +1 more)	Nicolaides-Baraitser syndrome +3 more	GBenign/Likely benign
Select item 366320	NM_003070.5(SMARCA2):c.4595-7G>C	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 366195	NM_003070.5(SMARCA2):c.246C>T (p.Asp82=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 126353	NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)	SMARCA2 (Q238del)	Microsatellite (inframe_deletion +1 more)	Nicolaides-Baraitser syndrome +4 more	GBenign
Select item 126349	NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)	SMARCA2 (D1546E +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +3 more	GBenign
Select item 68762	NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys)	SMARCA2 (E852K)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 28