ClinVar for MedGen (Select 1371952) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585369	NM_001098426.2(SMARCD2):c.391C>T (p.Gln131Ter)	SMARCD2 (Q56* +2 more)	Single nucleotide variant (nonsense)	Specific granule deficiency 2	GLikely pathogenic
Select item 1686864	NM_001098426.2(SMARCD2):c.511C>T (p.Gln171Ter)	SMARCD2 (Q123* +1 more)	Single nucleotide variant (nonsense)	Specific granule deficiency 2	GPathogenic
Select item 1325105	NM_001098426.2(SMARCD2):c.654del (p.Gly220fs)	SMARCD2 (G145fs +2 more)	Deletion (frameshift variant)	Specific granule deficiency 2	GLikely pathogenic
Select item 1252086	NM_001098426.2(SMARCD2):c.1429C>T (p.Arg477Ter)	SMARCD2 (R402* +2 more)	Single nucleotide variant (nonsense)	Specific granule deficiency 2	GPathogenic
Select item 996004	NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter)	SMARCD2 (R117* +2 more)	Single nucleotide variant (nonsense)	SMARCD2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 804421	NM_001098426.2(SMARCD2):c.568-1G>C	SMARCD2	Single nucleotide variant (splice acceptor variant)	Specific granule deficiency 2	GLikely pathogenic
Select item 790464	NM_001098426.2(SMARCD2):c.1545G>A (p.Val515=)	SMARCD2	Single nucleotide variant (synonymous variant)	Specific granule deficiency 2 +1 more	GBenign/Likely benign
Select item 619069	NM_001098426.2(SMARCD2):c.93del (p.Ala32fs)	LOC130061409, SMARCD2 (A32fs)	Deletion (frameshift variant)	Specific granule deficiency 2 +1 more	GConflicting classifications of pathogenicity
Select item 369731	NM_001098426.2(SMARCD2):c.401+2T>C	SMARCD2	Single nucleotide variant (splice donor variant)	Specific granule deficiency 1 +2 more	GPathogenic
Select item 369730	NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer)	SMARCD2	Duplication (nonsense)	Specific granule deficiency 1 +2 more	GPathogenic
Select item 369729	NM_001098426.2(SMARCD2):c.1181+1G>A	SMARCD2	Single nucleotide variant (splice donor variant)	Specific granule deficiency 2 +2 more	GPathogenic