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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 365305	NM_015046.7(SETX):c.*2262A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign
Select item 365311	NM_015046.7(SETX):c.*1700G>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign/Likely benign
Select item 912319	NM_015046.7(SETX):c.*475A>C	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 365332	NM_015046.7(SETX):c.431_432del	SETX	Deletion (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign/Likely benign
Select item 1261811	NM_015046.7(SETX):c.*430dup	SETX	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 365333	NM_015046.7(SETX):c.*351G>T	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 365334	NM_015046.7(SETX):c.*319C>T	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1215767	NM_015046.7(SETX):c.*200T>G	SETX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 426354	NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp)	SETX (E2665D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468528	NM_015046.7(SETX):c.7905C>T (p.Ala2635=)	SETX	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 468527	NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)	SETX (D2624Y +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 195975	NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)	SETX (S2612G +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign
Select item 365339	NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)	SETX (R2605Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1760619	NM_015046.7(SETX):c.7786G>C (p.Ala2596Pro)	SETX (A2596P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95669	NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)	SETX (I2587V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign
Select item 365342	NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)	SETX (P2575L +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +5 more	GConflicting classifications of pathogenicity
Select item 1056497	NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)	SETX (S2561L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 155748	NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SETX (I2547T +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 452651	NM_015046.7(SETX):c.7520C>G (p.Ser2507Cys)	SETX (S2507C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448347	NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)	SETX (S2497N +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 1759125	NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)	SETX (D2496E +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +4 more	GUncertain significance
Select item 2505041	NM_015046.7(SETX):c.7439C>A (p.Ala2480Asp)	SETX (A2480D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448346	NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)	SETX (T2478A +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 493499	NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)	SETX (L2473V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 365344	NM_015046.7(SETX):c.7371T>C (p.His2457=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 1288740	NM_015046.7(SETX):c.7288-60A>G	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231585	NM_015046.7(SETX):c.7288-197dup	SETX	Duplication (intron variant)	not provided	GBenign
Select item 1215807	NM_015046.7(SETX):c.7288-239_7288-238del	SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1286939	NM_015046.7(SETX):c.7288-259dup	SETX	Duplication (intron variant)	not provided	GBenign
Select item 1271774	NM_015046.7(SETX):c.7288-259_7288-258dup	SETX	Duplication (intron variant)	not provided	GBenign
Select item 1218672	NM_015046.7(SETX):c.7288-239C>A	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215296	NM_015046.7(SETX):c.7288-259_7288-256dup	SETX	Duplication (intron variant)	not provided	GLikely benign
Select item 1202547	NM_015046.7(SETX):c.7288-259_7288-257dup	SETX	Duplication (intron variant)	not provided	GLikely benign
Select item 1266153	NM_015046.7(SETX):c.7288-240del	SETX	Deletion (intron variant)	not provided	GBenign
Select item 1202072	NM_015046.7(SETX):c.7288-302C>T	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281883	NM_015046.7(SETX):c.7287+279G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208819	NM_015046.7(SETX):c.7287+207C>T	LOC126860782, SETX (L2457F)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 4 +2 more	GLikely benign
Select item 1219771	NM_015046.7(SETX):c.7287+3del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 468523	NM_015046.7(SETX):c.7200-10dup	LOC126860782, SETX	Duplication (intron variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign/Likely benign
Select item 440265	NM_015046.7(SETX):c.7200-11_7200-10del	LOC126860782, SETX	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1683991	NM_015046.7(SETX):c.7200-172_7200-171del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1225051	NM_015046.7(SETX):c.7200-171G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261238	NM_015046.7(SETX):c.7200-190A>G	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190338	NM_015046.7(SETX):c.7200-191_7200-190del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1209087	NM_015046.7(SETX):c.7200-198_7200-195del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1268667	NM_015046.7(SETX):c.7199+255G>A	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263761	NM_015046.7(SETX):c.7199+104T>C	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183869	NM_015046.7(SETX):c.7199+60C>T	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232122	NM_015046.7(SETX):c.7199+23_7199+48dup	SETX	Duplication (intron variant)	not provided	GBenign
Select item 260517	NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)	SETX (D2372N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 1247074	NM_015046.7(SETX):c.7101-92_7101-91dup	SETX	Duplication (intron variant)	not provided	GBenign
Select item 1216412	NM_015046.7(SETX):c.7101-245A>G	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343884	NM_015046.7(SETX):c.7100+233T>C	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295519	NM_015046.7(SETX):c.7100+182T>G	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260516	NM_015046.7(SETX):c.7100+27A>G	SETX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 3364827	NM_015046.7(SETX):c.6989T>C (p.Ile2330Thr)	SETX (I2330T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2932304	NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)	SETX (L2322V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 260515	NM_015046.7(SETX):c.6936-27T>G	SETX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1206967	NM_015046.7(SETX):c.6936-51G>A	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270579	NM_015046.7(SETX):c.6936-100C>A	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203279	NM_015046.7(SETX):c.6936-110A>G	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239792	NM_015046.7(SETX):c.6936-315C>T	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204901	NM_015046.7(SETX):c.6935+51del	SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1188452	NM_015046.7(SETX):c.6935+47A>T	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260514	NM_015046.7(SETX):c.6935+8T>C	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign
Select item 818014	NM_015046.7(SETX):c.6897dup (p.Phe2300fs)	SETX (F2300fs)	Duplication (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 1165171	NM_015046.7(SETX):c.6843-16dup	SETX	Duplication (intron variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign
Select item 365347	NM_015046.7(SETX):c.6843-6_6843-5dup	SETX	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1258740	NM_015046.7(SETX):c.6842+302C>T	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242727	NM_015046.7(SETX):c.6842+252_6842+254del	SETX	Microsatellite (intron variant)	not provided	GBenign
Select item 1295898	NM_015046.7(SETX):c.6842+221A>G	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212049	NM_015046.7(SETX):c.6842+98G>A	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2412981	NM_015046.7(SETX):c.6803C>T (p.Pro2268Leu)	SETX (P2268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369341	NM_015046.7(SETX):c.6742A>G (p.Arg2248Gly)	SETX (R2248G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805430	NM_015046.7(SETX):c.6729_6730del (p.His2243fs)	SETX (H2243fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 944268	NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)	SETX (Y2223C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 260513	NM_015046.7(SETX):c.6655-24G>A	SETX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1178359	NM_015046.7(SETX):c.6655-29A>G	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295518	NM_015046.7(SETX):c.6655-237T>C	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283661	NM_015046.7(SETX):c.6655-309A>G	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295517	NM_015046.7(SETX):c.6654+215A>G	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271957	NM_015046.7(SETX):c.6654+152T>A	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700501	NM_015046.7(SETX):c.6578C>T (p.Thr2193Ile)	SETX (T2193I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208862	NM_015046.7(SETX):c.6547-27T>C	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234423	NM_015046.7(SETX):c.6547-164G>A	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220940	NM_015046.7(SETX):c.6547-287G>T	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266813	NM_015046.7(SETX):c.6546+321T>C	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250039	NM_015046.7(SETX):c.6546+108C>G	SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258054	NM_015046.7(SETX):c.6546+92dup	SETX	Duplication (intron variant)	not provided	GBenign
Select item 1219176	NM_015046.7(SETX):c.6546+104G>A	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325948	NM_015046.7(SETX):c.6546+44G>A	SETX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260512	NM_015046.7(SETX):c.6546+32T>A	SETX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 994955	NM_015046.7(SETX):c.6546+5G>C	SETX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 260511	NM_015046.7(SETX):c.6507G>A (p.Gly2169=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 807686	NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)	SETX (L2155W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 913536	NM_015046.7(SETX):c.6435C>T (p.Ile2145=)	SETX	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1268838	NM_015046.7(SETX):c.6396+221dup	SETX	Duplication (intron variant)	not provided	GBenign
Select item 1199618	NM_015046.7(SETX):c.6396+221_6396+222dup	SETX	Duplication (intron variant)	not provided	GLikely benign
Select item 1295513	NM_015046.7(SETX):c.6396+241del	SETX	Deletion (intron variant)	not provided	GBenign

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