TECPR2[gene] and "single gene"[properties] - ClinVar - NCBI

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	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 672764	NM_014844.5(TECPR2):c.-72-211A>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509723	NM_014844.5(TECPR2):c.-28G>A	TECPR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380926	NM_014844.5(TECPR2):c.-20A>C	TECPR2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 989657	NM_014844.5(TECPR2):c.-3G>A	TECPR2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 2233125	NM_014844.5(TECPR2):c.8C>T (p.Ser3Leu)	TECPR2 (S3L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1586540	NM_014844.5(TECPR2):c.9G>A (p.Ser3=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1120410	NM_014844.5(TECPR2):c.9G>T (p.Ser3=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2158676	NM_014844.5(TECPR2):c.15A>G (p.Ser5=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
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 1353644	NM_014844.5(TECPR2):c.25dup (p.Thr9fs)	TECPR2 (T9fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1125867	NM_014844.5(TECPR2):c.24T>C (p.Val8=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1612992	NM_014844.5(TECPR2):c.27A>G (p.Thr9=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1071035	NM_014844.5(TECPR2):c.35_36del (p.Glu12fs)	TECPR2 (E12fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1652617	NM_014844.5(TECPR2):c.33A>G (p.Arg11=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1071213	NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter)	TECPR2 (E12*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1139921	NM_014844.5(TECPR2):c.39C>T (p.Phe13=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2766265	NM_014844.5(TECPR2):c.45G>C (p.Pro15=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1140265	NM_014844.5(TECPR2):c.45G>A (p.Pro15=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GLikely benign
Select item 2719341	NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter)	TECPR2 (Y17*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 49	GPathogenic
Select item 408913	NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys)	TECPR2 (Y18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 840468	NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del)	TECPR2 (L20del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1132709	NM_014844.5(TECPR2):c.57C>T (p.Leu19=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 580029	NM_014844.5(TECPR2):c.67A>G (p.Ile23Val)	TECPR2 (I23V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1305132	NM_014844.5(TECPR2):c.71C>T (p.Pro24Leu)	TECPR2 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773953	NM_014844.5(TECPR2):c.72G>A (p.Pro24=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	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 1658063	NM_014844.5(TECPR2):c.81C>A (p.Ile27=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2771513	NM_014844.5(TECPR2):c.90T>G (p.Gly30=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3325200	NM_014844.5(TECPR2):c.94C>T (p.Arg32Cys)	TECPR2 (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 540298	NM_014844.5(TECPR2):c.95G>A (p.Arg32His)	TECPR2 (R32H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2731379	NM_014844.5(TECPR2):c.102C>T (p.Ile34=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2162344	NM_014844.5(TECPR2):c.103G>A (p.Val35Met)	TECPR2 (V35M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1080827	NM_014844.5(TECPR2):c.108C>T (p.Val36=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2282287	NM_014844.5(TECPR2):c.115A>C (p.Thr39Pro)	TECPR2 (T39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2766291	NM_014844.5(TECPR2):c.117G>C (p.Thr39=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2148735	NM_014844.5(TECPR2):c.117G>T (p.Thr39=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1077242	NM_014844.5(TECPR2):c.120C>T (p.Ala40=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1452378	NM_014844.5(TECPR2):c.123C>G (p.Leu41=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1142591	NM_014844.5(TECPR2):c.123C>T (p.Leu41=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1105920	NM_014844.5(TECPR2):c.132C>T (p.Asn44=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2280983	NM_014844.5(TECPR2):c.137A>G (p.Asp46Gly)	TECPR2 (D46G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1079745	NM_014844.5(TECPR2):c.141C>T (p.Tyr47=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 961418	NM_014844.5(TECPR2):c.142A>G (p.Ile48Val)	TECPR2 (I48V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1580409	NM_014844.5(TECPR2):c.144C>T (p.Ile48=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2976927	NM_014844.5(TECPR2):c.147G>T (p.Ala49=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1086112	NM_014844.5(TECPR2):c.147G>A (p.Ala49=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1433254	NM_014844.5(TECPR2):c.150G>A (p.Val50=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1363570	NM_014844.5(TECPR2):c.158G>A (p.Ser53Asn)	TECPR2 (S53N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1624192	NM_014844.5(TECPR2):c.162C>T (p.Ile54=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2466920	NM_014844.5(TECPR2):c.163G>A (p.Gly55Ser)	TECPR2 (G55S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1523303	NM_014844.5(TECPR2):c.167T>C (p.Met56Thr)	TECPR2 (M56T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 3016596	NM_014844.5(TECPR2):c.171C>A (p.Leu57=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2724157	NM_014844.5(TECPR2):c.171C>T (p.Leu57=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1106222	NM_014844.5(TECPR2):c.171C>G (p.Leu57=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2154661	NM_014844.5(TECPR2):c.173A>G (p.Tyr58Cys)	TECPR2 (Y58C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1448941	NM_014844.5(TECPR2):c.173A>T (p.Tyr58Phe)	TECPR2 (Y58F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1968681	NM_014844.5(TECPR2):c.177G>C (p.Leu59=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1567806	NM_014844.5(TECPR2):c.180C>T (p.Tyr60=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2914062	NM_014844.5(TECPR2):c.183C>T (p.Cys61=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2857170	NM_014844.5(TECPR2):c.190del (p.Leu64fs)	TECPR2 (L64fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1548261	NM_014844.5(TECPR2):c.207G>A (p.Lys69=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 570798	NM_014844.5(TECPR2):c.218_219+15del	TECPR2	Deletion (splice donor variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 2746453	NM_014844.5(TECPR2):c.219+8T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2044977	NM_014844.5(TECPR2):c.219+10G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1218400	NM_014844.5(TECPR2):c.219+242G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185887	NM_014844.5(TECPR2):c.219+272G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197597	NM_014844.5(TECPR2):c.220-313A>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196424	NM_014844.5(TECPR2):c.220-290C>T	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919449	NM_014844.5(TECPR2):c.220-15T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2768615	NM_014844.5(TECPR2):c.220-11C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2847068	NM_014844.5(TECPR2):c.220-10G>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1102744	NM_014844.5(TECPR2):c.220-10G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2986021	NM_014844.5(TECPR2):c.220-9T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2104424	NM_014844.5(TECPR2):c.220-8T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1122826	NM_014844.5(TECPR2):c.220-8T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1662834	NM_014844.5(TECPR2):c.220-5C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1663309	NM_014844.5(TECPR2):c.220-4C>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49 +1 more	GConflicting classifications of pathogenicity
Select item 1096189	NM_014844.5(TECPR2):c.220-4C>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2184600	NM_014844.5(TECPR2):c.220-2A>G	TECPR2	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 1454429	NM_014844.4(TECPR2):c.222delG	TECPR2	Deletion	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 507103	NM_014844.5(TECPR2):c.225G>A (p.Lys75=)	TECPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 763636	NM_014844.5(TECPR2):c.228G>A (p.Thr76=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1096391	NM_014844.5(TECPR2):c.231A>G (p.Glu77=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 285656	NM_014844.5(TECPR2):c.242_243del (p.Val81fs)	TECPR2 (V81fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1152155	NM_014844.5(TECPR2):c.243G>C (p.Val81=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2170212	NM_014844.5(TECPR2):c.246G>A (p.Val82=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2885094	NM_014844.5(TECPR2):c.250C>T (p.Leu84=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1153474	NM_014844.5(TECPR2):c.252G>A (p.Leu84=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1139909	NM_014844.5(TECPR2):c.270C>T (p.Asp90=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2738365	NM_014844.5(TECPR2):c.271C>T (p.Leu91=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2103583	NM_014844.5(TECPR2):c.276G>A (p.Val92=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1106905	NM_014844.5(TECPR2):c.279A>G (p.Ala93=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2840371	NM_014844.5(TECPR2):c.282A>C (p.Ala94=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1569268	NM_014844.5(TECPR2):c.288A>G (p.Thr96=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3004584	NM_014844.5(TECPR2):c.291C>T (p.Ala97=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1603157	NM_014844.5(TECPR2):c.297C>G (p.Gly99=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2747425	NM_014844.5(TECPR2):c.298A>G (p.Arg100Gly)	TECPR2 (R100G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance

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