"Genome-Nilou Lab"[submitter] AND "SMARCAL1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260344	NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1259419	NM_014140.4(SMARCAL1):c.811+38del	SMARCAL1	Deletion (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 497994	NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197799	NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg)	SMARCAL1 (S315R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 198202	NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)	SMARCAL1 (E377Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1184774	NM_014140.4(SMARCAL1):c.1711-132G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 1184775	NM_014140.4(SMARCAL1):c.1711-111G>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 1184776	NM_014140.4(SMARCAL1):c.1852-153A>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 260341	NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=)	SMARCAL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1184791	NM_014140.4(SMARCAL1):c.2071-136T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +1 more	GBenign
Select item 1184792	NM_014140.4(SMARCAL1):c.2528+68T>C	SMARCAL1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign