"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334289	NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GBenign/Likely benign
Select item 196456	NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His)	SMARCAL1 (R114H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1712404	NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly)	SMARCAL1 (A118G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
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 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 197798	NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 1712387	NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His)	SMARCAL1 (L322H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
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 463145	NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly)	SMARCAL1 (S415G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GBenign/Likely benign
Select item 283080	NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)	SMARCAL1 (D424V)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 790935	NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met)	SMARCAL1 (V512M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 791013	NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 260339	NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 463147	NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met)	SMARCAL1 (T742M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GUncertain significance
Select item 1712428	NM_014140.4(SMARCAL1):c.2313C>G (p.Phe771Leu)	SMARCAL1 (F771L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 287872	NM_014140.4(SMARCAL1):c.2528+5G>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia +2 more	GConflicting classifications of pathogenicity