ClinVar for Gene (Select 55775) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046657	NM_018319.4(TDP1):c.1236A>G (p.Leu412=)	TDP1	Single nucleotide variant (synonymous variant)	TDP1-related condition	GLikely benign
Select item 3042042	NM_018319.4(TDP1):c.1754-7C>A	TDP1	Single nucleotide variant (intron variant)	TDP1-related condition	GLikely benign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2683274	NM_018319.4(TDP1):c.1337A>G (p.Asn446Ser)	TDP1 (N446S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644445	NM_018319.4(TDP1):c.604-6A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2623170	NM_018319.4(TDP1):c.256G>T (p.Gly86Cys)	TDP1, LOC126862019 (G86C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608145	NM_018319.4(TDP1):c.1477C>T (p.His493Tyr)	TDP1 (H493Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592187	NM_018319.4(TDP1):c.695G>A (p.Arg232Gln)	TDP1 (R232Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, CPSF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2555636	NM_018319.4(TDP1):c.330C>G (p.Ile110Met)	LOC126862019, TDP1 (I110M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540034	NM_018319.4(TDP1):c.276T>G (p.Ser92Arg)	LOC126862019, TDP1 (S92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524953	NM_018319.4(TDP1):c.194T>A (p.Phe65Tyr)	LOC126862019, TDP1 (F65Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487685	NM_018319.4(TDP1):c.1618G>A (p.Gly540Arg)	TDP1 (G540R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471350	NM_018319.4(TDP1):c.1166C>T (p.Ala389Val)	TDP1 (A389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461577	NM_018319.4(TDP1):c.1460G>A (p.Arg487His)	TDP1 (R487H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429598	NM_018319.4(TDP1):c.1754-82A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 2407952	NM_018319.4(TDP1):c.1248T>G (p.Phe416Leu)	TDP1 (F416L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392426	NM_018319.4(TDP1):c.848A>G (p.Asn283Ser)	TDP1 (N283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340605	NM_018319.4(TDP1):c.91T>A (p.Ser31Thr)	LOC126862019, TDP1 (S31T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335778	NM_018319.4(TDP1):c.167A>G (p.His56Arg)	LOC126862019, TDP1 (H56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331748	NM_018319.4(TDP1):c.650C>T (p.Pro217Leu)	TDP1 (P217L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317720	NM_018319.4(TDP1):c.801G>C (p.Met267Ile)	TDP1 (M267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286200	NM_018319.4(TDP1):c.736G>A (p.Glu246Lys)	TDP1 (E246K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280644	NM_018319.4(TDP1):c.512T>C (p.Val171Ala)	LOC126862019, TDP1 (V171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266998	NM_018319.4(TDP1):c.389A>G (p.His130Arg)	LOC126862019, TDP1 (H130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238675	NM_018319.4(TDP1):c.338A>G (p.Glu113Gly)	LOC126862019, TDP1 (E113G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235038	NM_018319.4(TDP1):c.1567G>A (p.Gly523Arg)	TDP1 (G523R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224199	NM_018319.4(TDP1):c.1036G>A (p.Asp346Asn)	TDP1 (D346N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	not provided	GUncertain significance
Select item 1807071	NM_018319.4(TDP1):c.1819C>G (p.Pro607Ala)	TDP1 (C570W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807070	NM_018319.4(TDP1):c.1735G>A (p.Glu579Lys)	TDP1 (E579K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807069	NM_018319.4(TDP1):c.657C>A (p.Phe219Leu)	TDP1 (F219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807068	NM_018319.4(TDP1):c.1754-9T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1801763	NM_018319.4(TDP1):c.1695G>A (p.Glu565=)	TDP1	Single nucleotide variant (synonymous variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
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 1693628	NM_018319.4(TDP1):c.1127A>G (p.Lys376Arg)	TDP1 (K376R)	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 1675235	NM_018319.4(TDP1):c.1645-168C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526432	GRCh37/hg19 14q32.11(chr14:90369857-90500568)	EFCAB11, TDP1	Copy number loss	not specified	GUncertain significance
Select item 1342743	NM_018319.4(TDP1):c.1433+166T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342742	NM_018319.4(TDP1):c.1366+48G>A	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342043	NM_018319.4(TDP1):c.1132-143T>A	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330989	NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu)	TDP1 (P598L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 1326795	NM_018319.4(TDP1):c.1367-201C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326764	NM_018319.4(TDP1):c.757-62T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321603	NM_018319.4(TDP1):c.884+94dup	TDP1	Duplication (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 1298593	NM_018319.4(TDP1):c.1252G>A (p.Glu418Lys)	TDP1 (E418K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295927	NM_018319.4(TDP1):c.1645-126C>G	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 1293712	NM_018319.4(TDP1):c.1753+237T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293150	NM_018319.4(TDP1):c.1052+206A>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 1287271	NM_018319.4(TDP1):c.791+58C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287106	NM_018319.4(TDP1):c.-7-282T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286692	NM_018319.4(TDP1):c.791+38A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284728	NM_018319.4(TDP1):c.1317+20G>A	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 1280399	NM_018319.4(TDP1):c.756+265G>C	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 1278564	NM_018319.4(TDP1):c.1366+79G>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 1275647	NM_018319.4(TDP1):c.1366+78C>G	TDP1	Single nucleotide variant (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 1275645	NM_018319.4(TDP1):c.1132-210C>T	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 1266886	NM_018319.4(TDP1):c.1317+118del	TDP1	Deletion (intron variant)	not provided	GBenign
Select item 1256731	NM_018319.4(TDP1):c.560-65G>A	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256279	NM_018319.4(TDP1):c.904T>C (p.Tyr302His)	TDP1 (Y302H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256278	NM_018319.4(TDP1):c.365_366delinsTA (p.Gly122Val)	LOC126862019, TDP1 (G122V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1256277	NM_018319.4(TDP1):c.1434-9T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1256276	NM_018319.4(TDP1):c.1122A>G (p.Arg374=)	TDP1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1255093	NM_018319.4(TDP1):c.757-194T>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 1254115	NM_018319.4(TDP1):c.1367-78T>A	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251810	NM_018319.4(TDP1):c.1434-151T>C	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 1240895	NM_018319.4(TDP1):c.1317+26G>A	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 1233088	NM_018319.4(TDP1):c.1131+38T>A	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 1182115	NM_018319.4(TDP1):c.885-151T>G	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 1178315	NM_018319.4(TDP1):c.1053-173A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176334	NM_018319.4(TDP1):c.16G>A (p.Asp6Asn)	LOC126862019, TDP1 (D6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032036	NM_018319.4(TDP1):c.764T>G (p.Leu255Trp)	TDP1 (L255W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 1030645	NM_018319.4(TDP1):c.910C>T (p.Arg304Ter)	TDP1 (R304*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GLikely pathogenic
Select item 995033	NM_018319.4(TDP1):c.982A>G (p.Met328Val)	TDP1 (M328V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995032	NM_018319.4(TDP1):c.914T>C (p.Ile305Thr)	TDP1 (I305T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995031	NM_018319.4(TDP1):c.802C>G (p.Leu268Val)	TDP1 (L268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995030	NM_018319.4(TDP1):c.585G>A (p.Thr195=)	TDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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