Related gene-specific medical variations for Gene (Select 9895) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257691	NM_014844.5(TECPR2):c.2490C>T (p.Gly830=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244026	NC_000014.8:g.(?_102894567)_(102898485_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GPathogenic
Select item 3244025	NC_000014.8:g.(?_102843049)_(102931651_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GPathogenic
Select item 3244024	NC_000014.8:g.(?_102899405)_(102901470_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 3244023	NC_000014.8:g.(?_102843059)_(102964594_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GPathogenic
Select item 3067893	NM_014844.5(TECPR2):c.1923_1924del (p.Glu641fs)	TECPR2 (E641fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 2977167	NM_014844.5(TECPR2):c.2487A>G (p.Lys829=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2882795	NM_014844.5(TECPR2):c.2524C>T (p.Leu842=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
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 2171593	NM_014844.5(TECPR2):c.2496G>A (p.Leu832=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2144946	NM_014844.5(TECPR2):c.2505C>T (p.Ser835=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2071723	NM_014844.5(TECPR2):c.2513C>T (p.Pro838Leu)	LOC130056519, TECPR2 (P838L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 2037865	NM_014844.5(TECPR2):c.2521G>A (p.Gly841Arg)	LOC130056519, TECPR2 (G841R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GUncertain significance
Select item 1907737	NM_014844.5(TECPR2):c.2507C>T (p.Ala836Val)	LOC130056519, TECPR2 (A836V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1643790	NM_014844.5(TECPR2):c.2520C>T (p.Ala840=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1636642	NM_014844.5(TECPR2):c.2502C>T (p.Cys834=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
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 1325186	NM_014844.5(TECPR2):c.1156del (p.Ala386fs)	TECPR2 (A386fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
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 1184453	NM_014844.5(TECPR2):c.3789+1G>C	TECPR2 (V1264L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 1152195	NM_014844.5(TECPR2):c.2493C>G (p.Gly831=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1147620	NM_014844.5(TECPR2):c.2523G>A (p.Gly841=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1096257	NM_014844.5(TECPR2):c.2514G>A (p.Pro838=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1085858	NM_014844.5(TECPR2):c.2508G>A (p.Ala836=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1078109	NM_014844.5(TECPR2):c.2520C>G (p.Ala840=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1011708	NM_014844.5(TECPR2):c.2513C>G (p.Pro838Arg)	LOC130056519, TECPR2 (P838R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 991467	NM_014844.5(TECPR2):c.*7C>G	TECPR2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990810	NM_014844.5(TECPR2):c.3793G>T (p.Ala1265Ser)	TECPR2 (A1265S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990807	NM_014844.5(TECPR2):c.3515G>A (p.Arg1172His)	TECPR2 (R1172H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990804	NM_014844.5(TECPR2):c.3139A>C (p.Thr1047Pro)	TECPR2 (T1047P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990803	NM_014844.5(TECPR2):c.2979G>A (p.Gln993=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 990800	NM_014844.5(TECPR2):c.2834A>G (p.Asn945Ser)	TECPR2 (N945S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990798	NM_014844.5(TECPR2):c.2578+5G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990797	NM_014844.5(TECPR2):c.2528G>A (p.Arg843His)	LOC130056519, TECPR2 (R843H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990796	NM_014844.5(TECPR2):c.2526G>T (p.Leu842=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990795	NM_014844.5(TECPR2):c.2362G>T (p.Ala788Ser)	TECPR2 (A788S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990793	NM_014844.5(TECPR2):c.2234G>A (p.Arg745Gln)	TECPR2 (R745Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 990792	NM_014844.5(TECPR2):c.2022C>G (p.Pro674=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989675	NM_014844.5(TECPR2):c.1928C>T (p.Pro643Leu)	TECPR2 (P643L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989674	NM_014844.5(TECPR2):c.1925T>A (p.Val642Asp)	TECPR2 (V642D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 989673	NM_014844.5(TECPR2):c.1825A>G (p.Asn609Asp)	TECPR2 (N609D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989672	NM_014844.5(TECPR2):c.1810G>A (p.Ala604Thr)	TECPR2 (A604T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989668	NM_014844.5(TECPR2):c.1372G>A (p.Val458Met)	TECPR2 (V458M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989665	NM_014844.5(TECPR2):c.1176G>T (p.Arg392Ser)	TECPR2 (R392S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989663	NM_014844.5(TECPR2):c.952-3C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989662	NM_014844.5(TECPR2):c.952-4A>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 989658	NM_014844.5(TECPR2):c.227C>T (p.Thr76Met)	TECPR2 (T76M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 946920	NM_014844.5(TECPR2):c.2527C>T (p.Arg843Cys)	LOC130056519, TECPR2 (R843C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 856973	NM_014844.5(TECPR2):c.2518G>A (p.Ala840Thr)	LOC130056519, TECPR2 (A840T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 813599	NM_014844.5(TECPR2):c.2839G>C (p.Val947Leu)	TECPR2 (V947L)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 696500	NM_014844.5(TECPR2):c.2514G>C (p.Pro838=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 688369	GRCh37/hg19 14q32.31(chr14:102871766-102926564)x3	TECPR2	Copy number gain	not provided	GUncertain significance
Select item 569315	NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys)	LOC130056519, TECPR2 (G831C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 503675	NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs)	TECPR2, LOC130056519 (C834fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic

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Links from Gene

Items: 54