"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344876	NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter)	SMARCAL1 (S579*)	Single nucleotide variant (nonsense)	Nephrotic syndrome	GLikely pathogenic
Select item 4176	NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)	SMARCAL1 (R586W)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 1344878	NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu)	SMARCAL1 (F608L)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1344879	NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr)	SMARCAL1 (K647T)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 495338	NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)	SMARCAL1 (R764W)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GConflicting classifications of pathogenicity
Select item 4171	NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	SMARCAL1 (E848*)	Single nucleotide variant (nonsense)	Steroid-resistant nephrotic syndrome +10 more	GPathogenic

ClinVar