"Illumina Laboratory Services, Illumina"[submitter] AND "SETX"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365300	NM_015046.7(SETX):c.*2753G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365301	NM_015046.7(SETX):c.*2639T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365302	NM_015046.7(SETX):c.*2610T>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365303	NM_015046.7(SETX):c.2576_2577del	SETX	Deletion (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365304	NM_015046.7(SETX):c.*2506T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign/Likely benign
Select item 913305	NM_015046.7(SETX):c.*2384T>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 913306	NM_015046.7(SETX):c.*2287T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365305	NM_015046.7(SETX):c.*2262A>G	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 365306	NM_015046.7(SETX):c.*2232T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign/Likely benign
Select item 914424	NM_015046.7(SETX):c.*2190A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 365307	NM_015046.7(SETX):c.*2136A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365308	NM_015046.7(SETX):c.*2065dup	SETX	Duplication (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 914425	NM_015046.7(SETX):c.*2016G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 914426	NM_015046.7(SETX):c.*2015C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365309	NM_015046.7(SETX):c.*2002A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 914944	NM_015046.7(SETX):c.*1987T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914945	NM_015046.7(SETX):c.*1803G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 914946	NM_015046.7(SETX):c.*1800C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 912990	NM_015046.7(SETX):c.*1722A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365310	NM_015046.7(SETX):c.*1713C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365311	NM_015046.7(SETX):c.*1700G>T	SETX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 912991	NM_015046.7(SETX):c.*1688A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365312	NM_015046.7(SETX):c.*1534G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365313	NM_015046.7(SETX):c.*1523A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 913357	NM_015046.7(SETX):c.*1494A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 913358	NM_015046.7(SETX):c.*1487A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365314	NM_015046.7(SETX):c.*1454C>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365315	NM_015046.7(SETX):c.*1442T>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365316	NM_015046.7(SETX):c.*1433A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914480	NM_015046.7(SETX):c.*1420A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914990	NM_015046.7(SETX):c.*1370G>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365317	NM_015046.7(SETX):c.*1368G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365318	NM_015046.7(SETX):c.*1365G>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365319	NM_015046.7(SETX):c.*1288T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 913037	NM_015046.7(SETX):c.*1233A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365320	NM_015046.7(SETX):c.*1224G>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 913039	NM_015046.7(SETX):c.*1148T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 913038	NM_015046.7(SETX):c.*1148T>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365321	NM_015046.7(SETX):c.*1052T>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 913406	NM_015046.7(SETX):c.*1050A>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365322	NM_015046.7(SETX):c.*988G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365323	NM_015046.7(SETX):c.*905A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign/Likely benign
Select item 365324	NM_015046.7(SETX):c.*891T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 914520	NM_015046.7(SETX):c.*869C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365325	NM_015046.7(SETX):c.*849G>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365326	NM_015046.7(SETX):c.*717T>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365327	NM_015046.7(SETX):c.*666C>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365328	NM_015046.7(SETX):c.*626C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 915043	NM_015046.7(SETX):c.*608G>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365329	NM_015046.7(SETX):c.*562C>A	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365330	NM_015046.7(SETX):c.*561A>C	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 365331	NM_015046.7(SETX):c.*548A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 912318	NM_015046.7(SETX):c.*491G>A	SETX	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
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)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign/Likely benign
Select item 365333	NM_015046.7(SETX):c.*351G>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign/Likely benign
Select item 365334	NM_015046.7(SETX):c.*319C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign/Likely benign
Select item 365335	NM_015046.7(SETX):c.*266A>G	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 913443	NM_015046.7(SETX):c.*254C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 913822	NM_015046.7(SETX):c.*168C>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign/Likely benign
Select item 913823	NM_015046.7(SETX):c.*13A>T	SETX	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365336	NM_015046.7(SETX):c.7914C>T (p.Phe2638=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 365337	NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)	SETX (P2625L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 915077	NM_015046.7(SETX):c.7851G>A (p.Thr2617=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 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)	not provided +3 more	GBenign
Select item 365338	NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)	SETX (P2609A +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 365339	NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)	SETX (R2605Q +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 365340	NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)	SETX (A2596V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 912364	NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)	SETX (A2592V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 912365	NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)	SETX (A2591T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +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)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 913494	NM_015046.7(SETX):c.7750C>T (p.Leu2584=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365341	NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)	SETX (V2579I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365342	NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)	SETX (P2575L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 913871	NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)	SETX (K2550E +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 155748	NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SETX (I2547T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 365343	NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)	SETX (L2469P +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 913872	NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr)	SETX (A2488T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365344	NM_015046.7(SETX):c.7371T>C (p.His2457=)	SETX	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 632035	NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)	SETX (R2444C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 915121	NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)	SETX (E2430D +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 365345	NM_015046.7(SETX):c.7287+9C>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 365346	NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)	SETX (V2374fs)	Microsatellite (frameshift variant)	SETX-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 260517	NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)	SETX (D2372N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 468521	NM_015046.7(SETX):c.7100+9T>C	SETX	Single nucleotide variant (intron variant)	SETX-related condition +4 more	GConflicting classifications of pathogenicity
Select item 912420	NM_015046.7(SETX):c.7100+3G>A	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 706047	NM_015046.7(SETX):c.7089C>T (p.Phe2363=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
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 365347	NM_015046.7(SETX):c.6843-6_6843-5dup	SETX	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 805431	NM_015046.7(SETX):c.6829T>C (p.Leu2277=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 365348	NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GConflicting classifications of pathogenicity
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 913536	NM_015046.7(SETX):c.6435C>T (p.Ile2145=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related condition +4 more	GConflicting classifications of pathogenicity
Select item 913918	NM_015046.7(SETX):c.6396+8G>C	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 913919	NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)	SETX (V2119A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365349	NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)	SETX (R2105W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 837295	NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)	SETX (S2054N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 639918	NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)	SETX (I2041T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 260510	NM_015046.7(SETX):c.6106+14G>A	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign/Likely benign
Select item 915166	NM_015046.7(SETX):c.6106+8A>G	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance

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