"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344151	NM_014844.4(TECPR2):c.-260C>T	TECPR2	Single nucleotide variant	Hereditary spastic paraplegia	GUncertain significance
Select item 380941	NM_014844.5(TECPR2):c.-2C>T	TECPR2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 1344147	NM_014844.5(TECPR2):c.22G>C (p.Val8Leu)	TECPR2 (V8L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 509148	NM_014844.5(TECPR2):c.606T>C (p.Ser202=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +2 more	GConflicting classifications of pathogenicity
Select item 1344162	NM_014844.5(TECPR2):c.708A>G (p.Ser236=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 697007	NM_014844.5(TECPR2):c.762G>A (p.Thr254=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 964805	NM_014844.5(TECPR2):c.818G>A (p.Arg273His)	TECPR2 (R273H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1344169	NM_014844.5(TECPR2):c.952-7_952-6dup	TECPR2	Duplication (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344167	NM_014844.5(TECPR2):c.952-6dup	TECPR2	Duplication (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344166	NM_014844.5(TECPR2):c.952-15_952-6dup	TECPR2	Duplication (intron variant)	Hereditary spastic paraplegia	GUncertain significance
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 1344163	NM_014844.5(TECPR2):c.952-12_952-6dup	TECPR2	Duplication (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344171	NM_014844.5(TECPR2):c.952-9_952-6del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344170	NM_014844.5(TECPR2):c.952-8_952-6del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344168	NM_014844.5(TECPR2):c.952-7_952-6del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 240925	NM_014844.5(TECPR2):c.952-5G>A	TECPR2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1147147	NM_014844.5(TECPR2):c.1125C>T (p.Val375=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344144	NM_014844.5(TECPR2):c.1129G>A (p.Val377Met)	TECPR2 (V377M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GUncertain significance
Select item 415302	NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr)	TECPR2 (A386T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 989666	NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 1344145	NM_014844.5(TECPR2):c.1244C>A (p.Ser415Tyr)	TECPR2 (S415Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GUncertain significance
Select item 415296	NM_014844.5(TECPR2):c.1260C>T (p.Ser420=)	TECPR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 380927	NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser)	TECPR2 (P439S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 511253	NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +2 more	GConflicting classifications of pathogenicity
Select item 240923	NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys)	TECPR2 (E491K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 473089	NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser)	TECPR2 (G536S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +3 more	GUncertain significance
Select item 408914	NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg)	TECPR2 (G536R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 380928	NM_014844.5(TECPR2):c.1614A>G (p.Pro538=)	TECPR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 989669	NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser)	TECPR2 (N548S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 1144340	NM_014844.5(TECPR2):c.1704T>G (p.Thr568=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 511254	NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe)	TECPR2 (L597F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +2 more	GBenign/Likely benign
Select item 220729	NM_014844.5(TECPR2):c.1802C>T (p.Pro601Leu)	TECPR2 (P601L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 380957	NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)	TECPR2 (L684V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 651200	NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn)	TECPR2 (S777N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1344148	NM_014844.5(TECPR2):c.2359G>A (p.Gly787Ser)	TECPR2 (G787S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
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 1344150	NM_014844.5(TECPR2):c.2528G>T (p.Arg843Leu)	LOC130056519, TECPR2 (R843L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344152	NM_014844.5(TECPR2):c.2701G>A (p.Asp901Asn)	TECPR2 (D901N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 967521	NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met)	TECPR2 (T903M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1344153	NM_014844.5(TECPR2):c.2827C>T (p.Arg943Trp)	TECPR2 (R943W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344154	NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp)	TECPR2 (R959W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GUncertain significance
Select item 415300	NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr)	TECPR2 (R980T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 240924	NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys)	TECPR2 (Q981K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GBenign
Select item 1216329	NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met)	TECPR2 (T989M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 221132	NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)	TECPR2 (S1092L)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 540301	NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr)	TECPR2 (S1129Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +2 more	GUncertain significance
Select item 473091	NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg)	TECPR2 (S1155R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 655585	NM_014844.5(TECPR2):c.3466G>A (p.Ala1156Thr)	TECPR2 (A1156T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +2 more	GUncertain significance
Select item 695728	NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GBenign/Likely benign
Select item 1344155	NM_014844.5(TECPR2):c.3475C>T (p.Arg1159Trp)	TECPR2 (R1159W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GUncertain significance
Select item 1344156	NM_014844.5(TECPR2):c.3500C>T (p.Pro1167Leu)	TECPR2 (P1167L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 696689	NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 701401	NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GLikely benign
Select item 572101	NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val)	TECPR2 (G1266V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 695783	NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344158	NM_014844.5(TECPR2):c.3913G>A (p.Ala1305Thr)	TECPR2 (A1305T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 697720	NM_014844.5(TECPR2):c.4014C>T (p.Gly1338=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 991464	NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=)	TECPR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 696092	NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 1344159	NM_014844.5(TECPR2):c.4066G>A (p.Val1356Met)	TECPR2 (V1356M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
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 1309855	NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile)	TECPR2 (T1362I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +2 more	GUncertain significance
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 1145656	NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 1344161	NM_014844.5(TECPR2):c.4136G>A (p.Arg1379Gln)	TECPR2 (R1379Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 698411	NM_014844.5(TECPR2):c.4149G>A (p.Thr1383=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 991466	NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile)	TECPR2 (M1398I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344143	NM_014844.5(TECPR2):c.*1716G>C	TECPR2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia	GLikely benign

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Items: 72