"PreventionGenetics, part of Exact Sciences"[submitter] AND "SMARCD2"[ - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790464	NM_001098426.2(SMARCD2):c.1545G>A (p.Val515=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1122132	NM_001098426.2(SMARCD2):c.1543-8T>G	SMARCD2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1164555	NM_001098426.2(SMARCD2):c.1218C>T (p.Tyr406=)	SMARCD2	Single nucleotide variant (synonymous variant)	SMARCD2-related disorder +1 more	GBenign
Select item 2179255	NM_001098426.2(SMARCD2):c.1170C>T (p.Asn390=)	SMARCD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031623	NM_001098426.2(SMARCD2):c.1137G>T (p.Gly379=)	SMARCD2	Single nucleotide variant (synonymous variant)	SMARCD2-related disorder	GLikely benign
Select item 1477193	NM_001098426.2(SMARCD2):c.922-3C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1606783	NM_001098426.2(SMARCD2):c.840C>T (p.Thr280=)	SMARCD2	Single nucleotide variant (synonymous variant)	SMARCD2-related disorder +1 more	GLikely benign
Select item 996004	NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter)	SMARCD2 (R117* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2065074	NM_001098426.2(SMARCD2):c.568-10C>T	SMARCD2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3053681	NM_001098426.2(SMARCD2):c.217-1024C>A	SMARCD2	Single nucleotide variant (synonymous variant +1 more)	SMARCD2-related disorder	GLikely benign
Select item 3039887	NM_001098426.2(SMARCD2):c.217-1050A>G	SMARCD2 (R3G)	Single nucleotide variant (missense variant +1 more)	SMARCD2-related disorder	GLikely benign
Select item 3049092	NM_001098426.2(SMARCD2):c.198C>G (p.Gly66=)	LOC130061409, SMARCD2	Single nucleotide variant (synonymous variant)	SMARCD2-related disorder	GLikely benign
Select item 1040218	NM_001098426.2(SMARCD2):c.120G>A (p.Pro40=)	SMARCD2, LOC130061409	Single nucleotide variant (synonymous variant)	SMARCD2-related disorder +1 more	GLikely benign
Select item 1170752	NM_001098426.2(SMARCD2):c.71C>T (p.Ala24Val)	LOC130061409, SMARCD2 (A24V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign