ClinVar for MedGen (Select 340052) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25852381.	NM_015046.7(SETX):c.5276del (p.Val1759fs) GRCh37: Chr9:135187242 GRCh38: Chr9:132311855	SETX	V1759fs	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely pathogenic	criteria provided, single submitter
Select item 25001232.	NM_015046.7(SETX):c.6931_6933del (p.Asn2311del) GRCh37: Chr9:135152449-135152451 GRCh38: Chr9:132277062-132277064	SETX	N2311del	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 24260423.	NC_000009.11:g.(?_135209975)_(135210134_?)dup GRCh37: Chr9:135209975-135210134	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 24190024.	NM_015046.7(SETX):c.928G>A (p.Asp310Asn) GRCh37: Chr9:135206746 GRCh38: Chr9:132331359	SETX	D310N	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 24186715.	NM_015046.7(SETX):c.7179T>C (p.Asn2393=) GRCh37: Chr9:135147117 GRCh38: Chr9:132271730	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Benign (Mar 28, 2022)	criteria provided, single submitter
Select item 24181336.	NM_015046.7(SETX):c.3881G>A (p.Arg1294His) GRCh37: Chr9:135203104 GRCh38: Chr9:132327717	SETX	R1294H	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, not provided	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 24168067.	NM_015046.7(SETX):c.2729C>T (p.Ser910Leu) GRCh37: Chr9:135204256 GRCh38: Chr9:132328869	SETX	S910L	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 24163848.	NM_015046.7(SETX):c.5852A>T (p.His1951Leu) GRCh37: Chr9:135172371 GRCh38: Chr9:132296984	SETX	H1951L	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 22035709.	NM_015046.7(SETX):c.389-7T>C GRCh37: Chr9:135218193 GRCh38: Chr9:132342806	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 220193710.	NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe) GRCh37: Chr9:135202892 GRCh38: Chr9:132327505	SETX	L1365F	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 220136511.	NM_015046.7(SETX):c.1841T>C (p.Ile614Thr) GRCh37: Chr9:135205144 GRCh38: Chr9:132329757	SETX	I614T	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 220085912.	NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr) GRCh37: Chr9:135176167 GRCh38: Chr9:132300780	SETX	A1800T	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Mar 3, 2022)	criteria provided, single submitter
Select item 219965113.	NM_015046.7(SETX):c.5148T>C (p.Phe1716=) GRCh37: Chr9:135201837 GRCh38: Chr9:132326450	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 219962714.	NM_015046.7(SETX):c.1010+14A>C GRCh37: Chr9:135206650 GRCh38: Chr9:132331263	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 219950015.	NM_015046.7(SETX):c.5824A>G (p.Ile1942Val) GRCh37: Chr9:135172399 GRCh38: Chr9:132297012	SETX	I1942V	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 219736516.	NM_015046.7(SETX):c.1026G>A (p.Pro342=) GRCh37: Chr9:135206511 GRCh38: Chr9:132331124	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219634317.	NM_015046.7(SETX):c.1099-17C>T GRCh37: Chr9:135205903 GRCh38: Chr9:132330516	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 219222018.	NM_015046.7(SETX):c.7248G>A (p.Lys2416=) GRCh37: Chr9:135145041 GRCh38: Chr9:132269654	LOC126860782, SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 219138319.	NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn) GRCh37: Chr9:135150653 GRCh38: Chr9:132275266	SETX	D2364N	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Aug 6, 2022)	criteria provided, single submitter
Select item 218679020.	NM_015046.7(SETX):c.1011G>C (p.Arg337Ser) GRCh37: Chr9:135206526 GRCh38: Chr9:132331139	SETX	R337S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 218273621.	NM_015046.7(SETX):c.1443T>C (p.Ser481=) GRCh37: Chr9:135205542 GRCh38: Chr9:132330155	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 218152022.	NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser) GRCh37: Chr9:135201974 GRCh38: Chr9:132326587	SETX	G1671S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 217909123.	NM_015046.7(SETX):c.1996G>C (p.Gly666Arg) GRCh37: Chr9:135204989 GRCh38: Chr9:132329602	SETX	G666R	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (May 27, 2022)	criteria provided, single submitter
Select item 217813124.	NM_015046.7(SETX):c.1942_1944del (p.Glu648del) GRCh37: Chr9:135205041-135205043 GRCh38: Chr9:132329654-132329656	SETX	E648del	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216968125.	NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser) GRCh37: Chr9:135202994 GRCh38: Chr9:132327607	SETX	P1331S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (May 5, 2022)	criteria provided, single submitter
Select item 216923026.	NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys) GRCh37: Chr9:135139820 GRCh38: Chr9:132264433	SETX	E2614K, E2643K	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, not provided	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 216565427.	NM_015046.7(SETX):c.3942C>T (p.Gly1314=) GRCh37: Chr9:135203043 GRCh38: Chr9:132327656	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 216453228.	NM_015046.7(SETX):c.6150G>A (p.Lys2050=) GRCh37: Chr9:135163995 GRCh38: Chr9:132288608	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 216356029.	NM_015046.7(SETX):c.2582A>G (p.Asn861Ser) GRCh37: Chr9:135204403 GRCh38: Chr9:132329016	SETX	N861S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (May 11, 2022)	criteria provided, single submitter
Select item 216299430.	NM_015046.7(SETX):c.6525C>T (p.Phe2175=) GRCh37: Chr9:135158672 GRCh38: Chr9:132283285	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 216286831.	NM_015046.7(SETX):c.1006G>A (p.Val336Ile) GRCh37: Chr9:135206668 GRCh38: Chr9:132331281	SETX	V336I	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 216200332.	NM_015046.7(SETX):c.2895A>G (p.Leu965=) GRCh37: Chr9:135204090 GRCh38: Chr9:132328703	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 216196333.	NM_015046.7(SETX):c.4945G>T (p.Val1649Phe) GRCh37: Chr9:135202040 GRCh38: Chr9:132326653	SETX	V1649F	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216070834.	NM_015046.7(SETX):c.388+19C>T GRCh37: Chr9:135221629 GRCh38: Chr9:132346242	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 216048135.	NM_015046.7(SETX):c.5196T>C (p.Pro1732=) GRCh37: Chr9:135201789 GRCh38: Chr9:132326402	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 215948336.	NM_015046.7(SETX):c.6422dup (p.Ser2142fs) GRCh37: Chr9:135158774-135158775 GRCh38: Chr9:132283387-132283388	SETX	S2142fs	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 215910937.	NM_015046.7(SETX):c.4890dup (p.Ile1631fs) GRCh37: Chr9:135202094-135202095 GRCh38: Chr9:132326707-132326708	SETX	I1631fs	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 215910838.	NM_015046.7(SETX):c.4972G>A (p.Val1658Ile) GRCh37: Chr9:135202013 GRCh38: Chr9:132326626	SETX	V1658I	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 215891939.	NM_015046.7(SETX):c.25C>T (p.Pro9Ser) GRCh37: Chr9:135224791 GRCh38: Chr9:132349404	SETX	P9S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 215820740.	NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala) GRCh37: Chr9:135203561 GRCh38: Chr9:132328174	SETX	T1142A	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Jun 26, 2022)	criteria provided, single submitter
Select item 215774541.	NM_015046.7(SETX):c.6547-15del GRCh37: Chr9:135156976 GRCh38: Chr9:132281589	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 215551142.	NM_015046.7(SETX):c.1948A>G (p.Met650Val) GRCh37: Chr9:135205037 GRCh38: Chr9:132329650	SETX	M650V	not specified, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Conflicting interpretations of pathogenicity (Oct 18, 2023)	criteria provided, conflicting interpretations
Select item 215507343.	NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser) GRCh37: Chr9:135202438 GRCh38: Chr9:132327051	SETX	N1516S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 215465644.	NM_015046.7(SETX):c.1999G>A (p.Asp667Asn) GRCh37: Chr9:135204986 GRCh38: Chr9:132329599	SETX	D667N	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 215321545.	NM_015046.7(SETX):c.2907T>A (p.Ala969=) GRCh37: Chr9:135204078 GRCh38: Chr9:132328691	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Apr 12, 2022)	criteria provided, single submitter
Select item 215306946.	NM_015046.7(SETX):c.7203C>T (p.Phe2401=) GRCh37: Chr9:135145086 GRCh38: Chr9:132269699	LOC126860782, SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 215239147.	NM_015046.7(SETX):c.4585G>A (p.Val1529Ile) GRCh37: Chr9:135202400 GRCh38: Chr9:132327013	SETX	V1529I	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 215177748.	NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile) GRCh37: Chr9:135140092 GRCh38: Chr9:132264705	SETX	T2552I, T2523I	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 214444549.	NM_015046.7(SETX):c.4899G>A (p.Ser1633=) GRCh37: Chr9:135202086 GRCh38: Chr9:132326699	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Jul 11, 2022)	criteria provided, single submitter
Select item 214220350.	NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe) GRCh37: Chr9:135203095 GRCh38: Chr9:132327708	SETX	Y1297F	Inborn genetic diseases, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213682651.	NM_015046.7(SETX):c.7100+2T>C GRCh37: Chr9:135150641 GRCh38: Chr9:132275254	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 212842052.	NM_015046.7(SETX):c.2190T>C (p.Asn730=) GRCh37: Chr9:135204795 GRCh38: Chr9:132329408	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212819753.	NM_015046.7(SETX):c.6227A>C (p.His2076Pro) GRCh37: Chr9:135163720 GRCh38: Chr9:132288333	SETX	H2076P	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212376654.	NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser) GRCh37: Chr9:135203365 GRCh38: Chr9:132327978	SETX	T1207S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 211968255.	NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala) GRCh37: Chr9:135201826 GRCh38: Chr9:132326439	SETX	G1720A	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 211875856.	NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile) GRCh37: Chr9:135153535 GRCh38: Chr9:132278148	SETX	T2255I	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211368057.	NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro) GRCh37: Chr9:135163624 GRCh38: Chr9:132288237	SETX	Q2108P	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 210907358.	NM_015046.7(SETX):c.1617T>A (p.Ile539=) GRCh37: Chr9:135205368 GRCh38: Chr9:132329981	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 210726459.	NM_015046.7(SETX):c.4071A>G (p.Lys1357=) GRCh37: Chr9:135202914 GRCh38: Chr9:132327527	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210527560.	NM_015046.7(SETX):c.567A>G (p.Leu189=) GRCh37: Chr9:135211834 GRCh38: Chr9:132336447	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210476961.	NM_015046.7(SETX):c.7461G>C (p.Gln2487His) GRCh37: Chr9:135140199 GRCh38: Chr9:132264812	SETX	Q2516H, Q2487H	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210284562.	NM_015046.7(SETX):c.1590T>C (p.Ser530=) GRCh37: Chr9:135205395 GRCh38: Chr9:132330008	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 209430063.	NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly) GRCh37: Chr9:135140075 GRCh38: Chr9:132264688	SETX	R2529G, R2558G	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209354164.	NM_015046.7(SETX):c.6136C>T (p.Leu2046=) GRCh37: Chr9:135164009 GRCh38: Chr9:132288622	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Jun 25, 2022)	criteria provided, single submitter
Select item 209254265.	NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg) GRCh37: Chr9:135202840 GRCh38: Chr9:132327453	SETX	Q1382R	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 209143266.	NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del) GRCh37: Chr9:135202038-135202061 GRCh38: Chr9:132326651-132326674	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4, not provided	Uncertain significance (Dec 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208979167.	NM_015046.7(SETX):c.7634T>A (p.Met2545Lys) GRCh37: Chr9:135140026 GRCh38: Chr9:132264639	SETX	M2574K, M2545K	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208979068.	NM_015046.7(SETX):c.7637del (p.Gly2546fs) GRCh37: Chr9:135140023 GRCh38: Chr9:132264636	SETX	G2575fs, G2546fs	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208905369.	NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg) GRCh37: Chr9:135203770 GRCh38: Chr9:132328383	SETX	Q1072R	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 208404270.	NM_015046.7(SETX):c.2964A>G (p.Gln988=) GRCh37: Chr9:135204021 GRCh38: Chr9:132328634	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 208290971.	NM_015046.7(SETX):c.6324+5C>G GRCh37: Chr9:135163618 GRCh38: Chr9:132288231	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 208029272.	NM_015046.7(SETX):c.7100+7C>T GRCh37: Chr9:135150636 GRCh38: Chr9:132275249	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 207975873.	NM_015046.7(SETX):c.80C>T (p.Ser27Phe) GRCh37: Chr9:135224736 GRCh38: Chr9:132349349	SETX	S27F	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 207770174.	NM_015046.7(SETX):c.4500A>G (p.Gln1500=) GRCh37: Chr9:135202485 GRCh38: Chr9:132327098	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 207495075.	NM_015046.7(SETX):c.2641G>A (p.Glu881Lys) GRCh37: Chr9:135204344 GRCh38: Chr9:132328957	SETX	E881K	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 207346776.	NM_015046.7(SETX):c.1338A>G (p.Gln446=) GRCh37: Chr9:135205647 GRCh38: Chr9:132330260	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 207244577.	NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser) GRCh37: Chr9:135172330 GRCh38: Chr9:132296943	SETX	P1965S	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 207144778.	NM_015046.7(SETX):c.331C>T (p.Arg111Ter) GRCh37: Chr9:135221705 GRCh38: Chr9:132346318	SETX	R111*	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 207131779.	NM_015046.7(SETX):c.6209-18_6209-15del GRCh37: Chr9:135163753-135163756 GRCh38: Chr9:132288366-132288369	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 207093080.	NM_015046.7(SETX):c.528A>G (p.Arg176=) GRCh37: Chr9:135211873 GRCh38: Chr9:132336486	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 207075781.	NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu) GRCh37: Chr9:135140321 GRCh38: Chr9:132264934	SETX	I2476L, I2447L	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 206891982.	NM_015046.7(SETX):c.3945A>G (p.Lys1315=) GRCh37: Chr9:135203040 GRCh38: Chr9:132327653	SETX		Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 206690183.	NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs) GRCh37: Chr9:135139635-135139638 GRCh38: Chr9:132264248-132264251	SETX	R2674fs, R2703fs	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 206331984.	NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly) GRCh37: Chr9:135202540 GRCh38: Chr9:132327153	SETX	E1482G	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 206312985.	NM_015046.7(SETX):c.2416G>A (p.Asp806Asn) GRCh37: Chr9:135204569 GRCh38: Chr9:132329182	SETX	D806N	SETX-related condition, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Conflicting interpretations of pathogenicity (Apr 10, 2023)	criteria provided, conflicting interpretations
Select item 206279286.	NM_015046.7(SETX):c.7881G>A (p.Glu2627=) GRCh37: Chr9:135139779 GRCh38: Chr9:132264392	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 206183287.	NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser) GRCh37: Chr9:135201982 GRCh38: Chr9:132326595	SETX	N1668S	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 206055988.	NM_015046.7(SETX):c.1099-13del GRCh37: Chr9:135205899 GRCh38: Chr9:132330512	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 205905489.	NM_015046.7(SETX):c.718+13C>T GRCh37: Chr9:135211670 GRCh38: Chr9:132336283	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 205765790.	NM_015046.7(SETX):c.5400T>C (p.Ala1800=) GRCh37: Chr9:135176165 GRCh38: Chr9:132300778	SETX		not provided, Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Likely benign (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205757891.	NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg) GRCh37: Chr9:135187156 GRCh38: Chr9:132311769	SETX	W1788R	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 205712392.	NM_015046.7(SETX):c.6107-19C>T GRCh37: Chr9:135164057 GRCh38: Chr9:132288670	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 205472893.	NM_015046.7(SETX):c.6842+15T>A GRCh37: Chr9:135153442 GRCh38: Chr9:132278055	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 205468294.	NM_015046.7(SETX):c.792T>C (p.Asn264=) GRCh37: Chr9:135210041 GRCh38: Chr9:132334654	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 205180095.	NM_015046.7(SETX):c.7101-16T>C GRCh37: Chr9:135147211 GRCh38: Chr9:132271824	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 204761096.	NM_015046.7(SETX):c.498+8dup GRCh37: Chr9:135218068-135218069 GRCh38: Chr9:132342681-132342682	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 204760897.	NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp) GRCh37: Chr9:135203568 GRCh38: Chr9:132328181	SETX	E1139D	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 204737798.	NM_015046.7(SETX):c.388+19C>G GRCh37: Chr9:135221629 GRCh38: Chr9:132346242	SETX		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 204664299.	NM_015046.7(SETX):c.7552A>G (p.Ile2518Val) GRCh37: Chr9:135140108 GRCh38: Chr9:132264721	SETX	I2547V, I2518V	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 2043387100.	NM_015046.7(SETX):c.1544C>T (p.Thr515Ile) GRCh37: Chr9:135205441 GRCh38: Chr9:132330054	SETX	T515I	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Uncertain significance (May 26, 2022)	criteria provided, single submitter

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