"GeneDx"[submitter] AND "TECPR2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
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 1305132	NM_014844.5(TECPR2):c.71C>T (p.Pro24Leu)	TECPR2 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 507103	NM_014844.5(TECPR2):c.225G>A (p.Lys75=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GLikely benign
Select item 514412	NM_014844.5(TECPR2):c.348+11A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49 +1 more	GLikely benign
Select item 1180582	NM_014844.5(TECPR2):c.348+83A>G	TECPR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 672347	NM_014844.5(TECPR2):c.348+256T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205560	NM_014844.5(TECPR2):c.349-305dup	TECPR2	Duplication (intron variant)	not provided	GLikely benign
Select item 1220123	NM_014844.5(TECPR2):c.349-293G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672792	NM_014844.5(TECPR2):c.349-85T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672793	NM_014844.5(TECPR2):c.480+169A>T	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670710	NM_014844.5(TECPR2):c.480+244A>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313262	NM_014844.5(TECPR2):c.584T>C (p.Leu195Pro)	TECPR2 (L195P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509148	NM_014844.5(TECPR2):c.606T>C (p.Ser202=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 473092	NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)	TECPR2 (T208I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 670231	NM_014844.5(TECPR2):c.638+193T>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209554	NM_014844.5(TECPR2):c.639-286C>T	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706278	NM_014844.5(TECPR2):c.639-104G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516682	NM_014844.5(TECPR2):c.714C>T (p.Pro238=)	TECPR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 450815	NM_014844.5(TECPR2):c.774del (p.Asp259fs)	TECPR2 (D259fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 380890	NM_014844.5(TECPR2):c.951+18A>G	TECPR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1257768	NM_014844.5(TECPR2):c.951+274TTG[11]	TECPR2	Microsatellite (intron variant)	not provided	GBenign
Select item 1202102	NM_014844.5(TECPR2):c.951+274TTG[7]	TECPR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 672794	NM_014844.5(TECPR2):c.952-239T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181424	NM_014844.5(TECPR2):c.952-23T>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201754	NM_014844.5(TECPR2):c.952-22T>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185893	NM_014844.5(TECPR2):c.952-21T>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445658	NM_014844.5(TECPR2):c.952-18T>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49 +1 more	GLikely benign
Select item 240925	NM_014844.5(TECPR2):c.952-5G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +2 more	GLikely benign
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 450814	NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs)	TECPR2 (K343fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49 +1 more	GPathogenic/Likely pathogenic
Select item 1282533	NM_014844.5(TECPR2):c.1085-297T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193551	NM_014844.5(TECPR2):c.1085-292G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189186	NM_014844.5(TECPR2):c.1085-281dup	TECPR2	Duplication (intron variant)	not provided	GLikely benign
Select item 1185731	NM_014844.5(TECPR2):c.1085-258T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193687	NM_014844.5(TECPR2):c.1085-253T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214870	NM_014844.5(TECPR2):c.1085-252G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293166	NM_014844.5(TECPR2):c.1085-247A>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211045	NM_014844.5(TECPR2):c.1085-242G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179980	NM_014844.5(TECPR2):c.1085-240A>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295928	NM_014844.5(TECPR2):c.1085-233T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293169	NM_014844.5(TECPR2):c.1085-219T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672257	NM_014844.5(TECPR2):c.1085-211G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269362	NM_014844.5(TECPR2):c.1085-203T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273286	NM_014844.5(TECPR2):c.1085-202G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672258	NM_014844.5(TECPR2):c.1085-200C>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266091	NM_014844.5(TECPR2):c.1085-175C>T	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178134	NM_014844.5(TECPR2):c.1085-169T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672576	NM_014844.5(TECPR2):c.1085-163T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344144	NM_014844.5(TECPR2):c.1129G>A (p.Val377Met)	TECPR2 (V377M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 415302	NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr)	TECPR2 (A386T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +3 more	GBenign
Select item 582659	NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys)	TECPR2 (E405K)	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 specified +3 more	GBenign/Likely benign
Select item 380927	NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser)	TECPR2 (P439S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 374308	NM_014844.5(TECPR2):c.1319del (p.Leu440fs)	TECPR2 (L440fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 449828	NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)	TECPR2	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia 49 +2 more	GLikely benign
Select item 1250005	NM_014844.5(TECPR2):c.1417+171AC[14]	TECPR2	Microsatellite (intron variant)	not provided	GBenign
Select item 1222001	NM_014844.5(TECPR2):c.1417+171AC[13]	TECPR2	Microsatellite (intron variant)	not provided	GBenign
Select item 1220445	NM_014844.5(TECPR2):c.1417+193_1417+194insACACACACACACACACACACACACACACACA	TECPR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1216346	NM_014844.5(TECPR2):c.1417+171AC[21]	TECPR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1325916	NM_014844.5(TECPR2):c.1417+171AC[9]	TECPR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 670741	NM_014844.5(TECPR2):c.1418-236C>T	TECPR2	Single nucleotide variant (intron variant)	not provided	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 1235130	NM_014844.5(TECPR2):c.1418-155G>T	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386392	NM_014844.5(TECPR2):c.1458G>A (p.Ser486=)	TECPR2	Single nucleotide variant (synonymous variant)	not specified +1 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 473089	NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser)	TECPR2 (G536S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 380928	NM_014844.5(TECPR2):c.1614A>G (p.Pro538=)	TECPR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 408917	NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)	TECPR2 (N548K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GLikely benign
Select item 1306677	NM_014844.5(TECPR2):c.1666A>G (p.Met556Val)	TECPR2 (M556V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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)	Hereditary spastic paraplegia +3 more	GBenign
Select item 373216	NM_014844.5(TECPR2):c.1861T>G (p.Ser621Ala)	TECPR2 (S621A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 817027	NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs)	TECPR2 (T649fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 408916	NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)	TECPR2 (E661K)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 380957	NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)	TECPR2 (L684V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 664676	NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg)	TECPR2 (G775R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +1 more	GUncertain significance
Select item 651200	NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn)	TECPR2 (S777N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49 +2 more	GUncertain significance
Select item 1296360	NM_014844.5(TECPR2):c.2395-256G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181714	NM_014844.5(TECPR2):c.2395-208T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179726	NM_014844.5(TECPR2):c.2395-180G>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392587	NM_014844.5(TECPR2):c.2395-19C>T	TECPR2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 503675	NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs)	TECPR2, LOC130056519 (C834fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 516666	NM_014844.5(TECPR2):c.2578+30_2578+42del	TECPR2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1275401	NM_014844.5(TECPR2):c.2578+257T>C	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194129	NM_014844.5(TECPR2):c.2579-284G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672795	NM_014844.5(TECPR2):c.2579-238G>T	TECPR2	Single nucleotide variant (intron variant)	not provided	GBenign

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