ClinVar for OMIM (Select 616938) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1029667	NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn)	SMARCE1 (H346N)	Single nucleotide variant (missense variant)	Familial meningioma +1 more	GUncertain significance
Select item 857521	NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)	SMARCE1 (N337Y)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 5 +2 more	GUncertain significance
Select item 793950	NM_003079.5(SMARCE1):c.370-10T>C	SMARCE1	Single nucleotide variant (intron variant)	Coffin-Siris syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 704815	NM_003079.5(SMARCE1):c.63C>T (p.Ser21=)	SMARCE1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 666261	NM_003079.5(SMARCE1):c.237+1G>T	SMARCE1	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 5	GPathogenic
Select item 559876	NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)	SMARCE1 (K92N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 5	GLikely pathogenic
Select item 486509	NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)	SMARCE1 (A138T)	Single nucleotide variant (missense variant)	Familial meningioma +2 more	GConflicting classifications of pathogenicity
Select item 486508	NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys)	SMARCE1 (E336K)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 407070	NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)	SMARCE1 (K256R)	Single nucleotide variant (missense variant)	Familial meningioma +3 more	GConflicting classifications of pathogenicity
Select item 407066	NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)	SMARCE1 (V319I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 225845	NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser)	SMARCE1 (Y73S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 5	GPathogenic
Select item 30316	NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)	SMARCE1 (Y73C)	Single nucleotide variant (missense variant)	Familial meningioma	GLikely pathogenic