Related gene-specific medical variations for Gene (Select 6605) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361258	NM_003079.5(SMARCE1):c.7+1G>A	SMARCE1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3243032	NC_000017.10:g.(?_38787824)_(38787965_?)del	SMARCE1	Deletion	Familial meningioma	GUncertain significance
Select item 2679027	NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)	SMARCE1 (E359*)	Single nucleotide variant (nonsense)	Familial meningioma	GUncertain significance
Select item 2679026	NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)	SMARCE1 (V51F)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2679024	NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)	SMARCE1 (A222G)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2679023	NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)	SMARCE1 (E352Q)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2436142	NM_003079.5(SMARCE1):c.772A>G (p.Lys258Glu)	SMARCE1 (K258E)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 5	GUncertain significance
Select item 592067	NM_003079.5(SMARCE1):c.-45-2A>T	SMARCE1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 592049	NM_003079.5(SMARCE1):c.156+1G>A	SMARCE1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

ClinVar