"Genome-Nilou Lab"[submitter] AND "TECPR2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380941	NM_014844.5(TECPR2):c.-2C>T	TECPR2	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 1180582	NM_014844.5(TECPR2):c.348+83A>G	TECPR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 380890	NM_014844.5(TECPR2):c.951+18A>G	TECPR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 380873	NM_014844.5(TECPR2):c.958G>A (p.Val320Ile)	TECPR2 (V320I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 670742	NM_014844.5(TECPR2):c.1418-165G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49 +1 more	GBenign
Select item 380901	NM_014844.5(TECPR2):c.1869G>A (p.Gly623=)	TECPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 380891	NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val)	TECPR2 (I683V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 380902	NM_014844.5(TECPR2):c.2760C>T (p.Ser920=)	TECPR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1180588	NM_014844.5(TECPR2):c.2934-236A>G	TECPR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670743	NM_014844.5(TECPR2):c.2934-230T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49 +1 more	GBenign
Select item 1180589	NM_014844.5(TECPR2):c.*60A>G	TECPR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign