C3542549[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690763	NM_014844.5(TECPR2):c.983_990del (p.Asp328fs)	TECPR2 (D328fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 1325186	NM_014844.5(TECPR2):c.1156del (p.Ala386fs)	TECPR2 (A386fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 374308	NM_014844.5(TECPR2):c.1319del (p.Leu440fs)	TECPR2 (L440fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 408916	NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)	TECPR2 (E661K)	Single nucleotide variant (missense variant)	See cases +5 more	GConflicting classifications of pathogenicity
Select item 1325185	NM_014844.5(TECPR2):c.2011_2015del (p.Glu671fs)	TECPR2 (E671fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 1693630	NM_014844.5(TECPR2):c.3236G>A (p.Ser1079Asn)	TECPR2 (S1079N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar