"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SPART"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216687	NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)	SPART (D391G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2162752	NM_015087.5(SPART):c.1147G>A (p.Gly383Arg)	SPART (G383R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 461200	NM_015087.5(SPART):c.1130A>T (p.Lys377Met)	SPART (K377M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163358	NM_015087.5(SPART):c.719G>T (p.Ser240Ile)	SPART (S240I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000893	NM_015087.5(SPART):c.265C>T (p.Arg89Cys)	SPART (R89C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 424442	NM_015087.5(SPART):c.68C>A (p.Ala23Asp)	SPART (A23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar