"GeneDx"[submitter] AND "TDP1"[gene] - ClinVar

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Items: 56

	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 151239	GRCh38/hg38 14q32.11(chr14:89840367-89986509)x1	EFCAB11, LOC113939941 +4 more	Copy number loss	See cases	GLikely benign
Select item 1287106	NM_018319.4(TDP1):c.-7-282T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 314824	NM_018319.4(TDP1):c.291A>G (p.Gln97=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign
Select item 314825	NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)	LOC126862019, TDP1 (P101L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 1810662	NM_018319.4(TDP1):c.321A>C (p.Lys107Asn)	LOC126862019, TDP1 (K107N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314826	NM_018319.4(TDP1):c.400G>A (p.Ala134Thr)	LOC126862019, TDP1 (A134T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +2 more	GBenign
Select item 1256731	NM_018319.4(TDP1):c.560-65G>A	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181557	NM_018319.4(TDP1):c.603+81C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279007	NM_018319.4(TDP1):c.603+118A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807067	NM_018319.4(TDP1):c.655T>C (p.Phe219Leu)	TDP1 (F219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684079	NM_018319.4(TDP1):c.660-191C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284030	NM_018319.4(TDP1):c.660-162A>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293145	NM_018319.4(TDP1):c.756+128T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280399	NM_018319.4(TDP1):c.756+265G>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230476	NM_018319.4(TDP1):c.757-196T>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255093	NM_018319.4(TDP1):c.757-194T>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326764	NM_018319.4(TDP1):c.757-62T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286692	NM_018319.4(TDP1):c.791+38A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236581	NM_018319.4(TDP1):c.791+52A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287271	NM_018319.4(TDP1):c.791+58C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275648	NM_018319.4(TDP1):c.791+155C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247650	NM_018319.4(TDP1):c.792-81A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271740	NM_018319.4(TDP1):c.792-52A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321603	NM_018319.4(TDP1):c.884+94dup	TDP1	Duplication (intron variant)	not provided	GBenign
Select item 1182115	NM_018319.4(TDP1):c.885-151T>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631721	NM_018319.4(TDP1):c.896del (p.Ser299fs)	TDP1 (S299fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 314831	NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)	TDP1 (R304Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1293150	NM_018319.4(TDP1):c.1052+206A>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178315	NM_018319.4(TDP1):c.1053-173A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 314832	NM_018319.4(TDP1):c.1077A>G (p.Pro359=)	TDP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 314834	NM_018319.4(TDP1):c.1107T>C (p.Asn369=)	TDP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1233088	NM_018319.4(TDP1):c.1131+38T>A	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302784	NM_018319.4(TDP1):c.1131+184_1131+185del	TDP1	Deletion (intron variant)	not provided	GBenign
Select item 1275645	NM_018319.4(TDP1):c.1132-210C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342043	NM_018319.4(TDP1):c.1132-143T>A	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240895	NM_018319.4(TDP1):c.1317+26G>A	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295038	NM_018319.4(TDP1):c.1317+118dup	TDP1	Duplication (intron variant)	not provided	GBenign
Select item 1266886	NM_018319.4(TDP1):c.1317+118del	TDP1	Deletion (intron variant)	not provided	GBenign
Select item 1275646	NM_018319.4(TDP1):c.1318-163A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254126	NM_018319.4(TDP1):c.1318-30C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342742	NM_018319.4(TDP1):c.1366+48G>A	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275647	NM_018319.4(TDP1):c.1366+78C>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278564	NM_018319.4(TDP1):c.1366+79G>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326795	NM_018319.4(TDP1):c.1367-201C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254115	NM_018319.4(TDP1):c.1367-78T>A	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342743	NM_018319.4(TDP1):c.1433+166T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251810	NM_018319.4(TDP1):c.1434-151T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700802	NM_018319.4(TDP1):c.1469C>G (p.Ala490Gly)	TDP1 (A490G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3424	NM_018319.4(TDP1):c.1478A>G (p.His493Arg)	TDP1 (H493R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GPathogenic
Select item 1675235	NM_018319.4(TDP1):c.1645-168C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295927	NM_018319.4(TDP1):c.1645-126C>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 314839	NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)	TDP1 (T569A)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign/Likely benign
Select item 1293712	NM_018319.4(TDP1):c.1753+237T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429598	NM_018319.4(TDP1):c.1754-82A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 314842	NM_018319.4(TDP1):c.*77C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign

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Items: 56