"Athena Diagnostics"[submitter] AND "SPG21"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215896	NM_016630.7(SPG21):c.846G>A (p.Ala282=)	SPG21	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 220662	NM_016630.7(SPG21):c.843C>T (p.Tyr281=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome +3 more	GBenign/Likely benign
Select item 316720	NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)	SPG21 (A180T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 415528	NM_016630.7(SPG21):c.318T>C (p.Phe106=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome +2 more	GBenign/Likely benign
Select item 241114	NM_016630.7(SPG21):c.223G>A (p.Ala75Thr)	SPG21 (A75T)	Single nucleotide variant (missense variant)	Mast syndrome +1 more	GUncertain significance
Select item 1285233	NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)	SPG21 (R40*)	Single nucleotide variant (nonsense)	Mast syndrome +1 more	GPathogenic/Likely pathogenic

ClinVar