"SMARCA2-related BAFopathy"[Disease/phenotype] AND "Baylor Genetics"[s - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032869	NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg)	SMARCA2 (G752R)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GLikely pathogenic
Select item 68760	NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile)	SMARCA2 (T756I)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GUncertain significance
Select item 561113	NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)	SMARCA2 (S783L)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GConflicting classifications of pathogenicity
Select item 694693	NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys)	SMARCA2 (N787K)	Single nucleotide variant (missense variant)	SMARCA2-related BAFopathy +1 more	GConflicting classifications of pathogenicity
Select item 1177354	NM_003070.5(SMARCA2):c.2554G>C (p.Glu852Gln)	SMARCA2 (E852Q)	Single nucleotide variant (missense variant)	SMARCA2-related BAFopathy	GPathogenic
Select item 1177355	NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln)	SMARCA2 (R855Q)	Single nucleotide variant (missense variant)	SMARCA2-related BAFopathy +1 more	GPathogenic
Select item 30016	NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)	SMARCA2 (P883L)	Single nucleotide variant (missense variant +1 more)	SMARCA2-related BAFopathy +2 more	GPathogenic
Select item 827774	NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)	SMARCA2 (R879H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 30010	NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)	SMARCA2 (R1159Q +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GPathogenic/Likely pathogenic