"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827829	NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys)	SMARCA2 (N486K)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 829814	NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His)	SMARCA2 (R525H)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 981428	NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg)	SMARCA2 (P781R)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 436803	NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)	SMARCA2 (S783W)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GLikely 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 1701081	NM_003070.5(SMARCA2):c.3078G>C (p.Glu1026Asp)	SMARCA2 (E1026D +1 more)	Single nucleotide variant (missense variant)	Abnormal cerebral morphology	GUncertain significance
Select item 30017	NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)	SMARCA2 (A1201V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 981388	NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys)	SMARCA2 (S1150C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 981424	NM_003070.5(SMARCA2):c.3754del (p.Leu1252fs)	SMARCA2 (L1194fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance