"Genomics England Pilot Project, Genomics England"[submitter] AND "TEC - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184452	NM_014844.5(TECPR2):c.2753-1G>A	TECPR2	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 1184453	NM_014844.5(TECPR2):c.3789+1G>C	TECPR2 (V1264L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 49	GLikely pathogenic