"PreventionGenetics, part of Exact Sciences"[submitter] AND "TECPR2"[g - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1125867	NM_014844.5(TECPR2):c.24T>C (p.Val8=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 1139921	NM_014844.5(TECPR2):c.39C>T (p.Phe13=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GLikely benign
Select item 3057668	NM_014844.5(TECPR2):c.81C>T (p.Ile27=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder	GLikely benign
Select item 473092	NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)	TECPR2 (T208I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 989660	NM_014844.5(TECPR2):c.669A>C (p.Pro223=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 699524	NM_014844.5(TECPR2):c.717G>A (p.Gly239=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 989661	NM_014844.5(TECPR2):c.754C>A (p.Gln252Lys)	TECPR2 (Q252K)	Single nucleotide variant (missense variant)	TECPR2-related disorder	GLikely benign
Select item 1344165	NM_014844.5(TECPR2):c.952-13_952-6dup	TECPR2	Duplication (intron variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 240925	NM_014844.5(TECPR2):c.952-5G>A	TECPR2	Single nucleotide variant (intron variant)	TECPR2-related disorder +3 more	GLikely benign
Select item 3047641	NM_014844.5(TECPR2):c.952-3C>A	TECPR2	Single nucleotide variant (intron variant)	TECPR2-related disorder	GLikely benign
Select item 696624	NM_014844.5(TECPR2):c.978C>T (p.Ser326=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 449828	NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)	TECPR2	Microsatellite (inframe_insertion)	TECPR2-related disorder +3 more	GLikely benign
Select item 408917	NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)	TECPR2 (N548K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GLikely benign
Select item 1344149	NM_014844.5(TECPR2):c.2394+3A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1148164	NM_014844.5(TECPR2):c.2752+9G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49 +1 more	GLikely benign
Select item 698723	NM_014844.5(TECPR2):c.3087G>A (p.Thr1029=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 221132	NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)	TECPR2 (S1092L)	Single nucleotide variant (missense variant)	TECPR2-related disorder +4 more	GLikely benign
Select item 698199	NM_014844.5(TECPR2):c.3294C>T (p.His1098=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 699570	NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +2 more	GLikely benign
Select item 705051	NM_014844.5(TECPR2):c.3640+10C>T	TECPR2	Single nucleotide variant (intron variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 1153128	NM_014844.5(TECPR2):c.3792C>T (p.Pro1264=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 696533	NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)	TECPR2 (A1345T)	Single nucleotide variant (missense variant)	TECPR2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 540304	NM_014844.5(TECPR2):c.4081+8C>A	TECPR2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 385226	NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +3 more	GBenign/Likely benign
Select item 705988	NM_014844.5(TECPR2):c.4218C>T (p.Asp1406=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign

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Items: 25