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Spinocerebellar Ataxias (D020754)
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Spinocerebellar ataxia, autosomal recessive 1 (C537308)

       Child Nodes:



 Sister Nodes: 
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAtaxia Telangiectasia (D001260) Child6
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandGemignani syndrome (C537678)
..expandMachado-Joseph Disease (D017827) Child1
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)  LSDB  L: 00036;
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 28 (C537205)  LSDB  L: 00498;
..expandSpinocerebellar ataxia 30 (C575214)
..expandSpinocerebellar Ataxia 31 (C566146)
..expandSpinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11561
Name:Spinocerebellar ataxia, autosomal recessive 1
Definition:
Alternative IDs:OMIM:606002
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C537308 |C10.228.140.252.700.700/C537308 |C10.228.854.787.875/C537308 |C10.574.500.825.700/C537308 |C10.597.350.090.500.530/C537308 |C16.320.400.780.875/C537308
Synonyms:AOA2 |Ataxia-ocular apraxia 2 |Ataxia-oculomotor apraxia 2 |Ataxia with Oculomotor Apraxia |SCAN2 |SCAR1 |Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 |Spinocerebellar Ataxia with Axonal Neuropathy Type 2
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537308
MeSH: C537308
OMIM: 606002;
MSeqDR LSDB:  
Genes: SETX;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007256Abnormal pyramidal signs
3 HP:0001284AreflexiaHP:0040284
4 HP:0001272Cerebellar atrophyHP:0040284
5 HP:0002072Chorea
NAMDC:  Chorea
HP:0040284
6 HP:0000524Conjunctival telangiectasiaHP:0040283
7 HP:0003431Decreased motor nerve conduction velocity
8 HP:0003693Distal amyotrophyHP:0040284
9 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
HP:0040284
10 HP:0001260Dysarthria
NAMDC:  Dysarthria
HP:0040284
11 HP:0002015Dysphagia
NAMDC:  Dysphagia
HP:0040284
12 HP:0001332Dystonia
NAMDC:  Dystonia
HP:0040284
13 HP:0006254Elevated alpha-fetoproteinHP:0040284
14 HP:0003236Elevated serum creatine phosphokinase
15 HP:0002066Gait ataxiaHP:0040284
16 HP:0000640Gaze-evoked nystagmus
17 HP:0002346Head tremorHP:0040284
18 HP:0001265HyporeflexiaHP:0040284
19 HP:0006937Impaired distal tactile sensationHP:0040284
20 HP:0006886Impaired distal vibration sensation
21 HP:0010831Impaired proprioceptionHP:0040284
22 HP:0010702Increased antibody level in blood
23 HP:0002070Limb ataxia
24 HP:0000639NystagmusHP:0040284
25 HP:0000657Oculomotor apraxiaHP:0040284
26 HP:0003477Peripheral axonal neuropathy
NAMDC:  Neuropathy axonal
HP:0040284
27 HP:0001761Pes cavusHP:0040284
28 HP:0001271Polyneuropathy
29 HP:0006879Pontocerebellar atrophy
30 HP:0003676Progressive
31 HP:0007240Progressive gait ataxia
32 HP:0001152Saccadic smooth pursuit
33 HP:0002650ScoliosisHP:0040284
34 HP:0000486StrabismusHP:0040284
35 HP:0001337TremorHP:0040284
36 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001195248.2(APTX):c.*858C>G54840APTXUncertain significance772290850RCV000355945|RCV001844143; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475393297263832972638NC_000009.11:g.32972638G>CClinGen:CA5022178CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.*851_*852del54840APTXLikely benign377365362RCV000314782|RCV001844144; NMedGen:CN239212|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475393297264432972645NC_000009.11:g.32972645_32972646delClinGen:CA5022179CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.*834C>G54840APTXUncertain significance770908697RCV000325267|RCV001844145; NMedGen:CN239212|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475393297266232972662NC_000009.11:g.32972662G>CClinGen:CA5022182CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.*806G>A54840APTXConflicting interpretations of pathogenicity113556331RCV000366064|RCV001844146|RCV001861349; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C366190093297269032972690NC_000009.11:g.32972690C>TClinGen:CA5022183CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.*605G>A54840APTXUncertain significance545625482RCV000286856|RCV001844147; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475393297289132972891NC_000009.11:g.32972891C>TClinGen:CA5022190CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.771-12dup54840APTXBenign34600530RCV000199367|RCV000310585|RCV001511842|RCV001553841|RCV001844082; NMedGen:CN169374|MedGen:CN239212|MedGen:C3661900|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475393297457032974571ClinGen:CA323907
NM_001195248.2(APTX):c.742T>C (p.Leu248=)54840APTXUncertain significance141195622RCV000267173|RCV001844148; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753932984657329846579:g.32984657A>GClinGen:CA10627233CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)54840APTXUncertain significance142133683RCV000372390|RCV000999149|RCV001844149; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753932984659329846599:g.32984659C>TClinGen:CA5022336CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.484-25_484-5del54840APTXBenign/Likely benign200922655RCV000179561|RCV000319013|RCV000676810|RCV000999774|RCV001844073; NMedGen:CN169374|MedGen:CN239212|MedGen:C3661900|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753932986033329860539:g.32986033_32986053delClinGen:CA203350CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.484-12_484-11insG54840APTXBenign/Likely benign377129152RCV000293319|RCV001672727|RCV001726148|RCV001844150; NMedGen:CN239212|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753932986039329860409:g.32986039_32986040insCClinGen:CA5022418CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.484-13G>T54840APTXBenign/Likely benign10123944RCV000123681|RCV000289641|RCV001478458|RCV001844043; NMedGen:CN169374|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753932986041329860419:g.32986041C>AClinGen:CA289504CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)54840APTXUncertain significance886063858RCV000390070|RCV001844151|RCV002523789; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900932987650329876509:g.32987650T>AClinGen:CA10627234CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.134-12A>C54840APTXConflicting interpretations of pathogenicity113391831RCV000305808|RCV000614999|RCV001844152|RCV002058798; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C366190093298813932988139NC_000009.11:g.32988139T>GClinGen:CA5022603CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)54840APTXUncertain significance117041645RCV000261003|RCV001844153; NMONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475393298981032989810NC_000009.11:g.32989810A>GClinGen:CA5022659CN239198 Ataxia with Oculomotor Apraxia;
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)54840APTXUncertain significance144076460RCV000200146|RCV000357224|RCV001844083|RCV002517195; NMedGen:C3661900|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012393298987232989872NC_000009.11:g.32989872C>AClinGen:CA324705CN239198 Ataxia with Oculomotor Apraxia;
NM_015046.7(SETX):c.*2753G>A23064SETXUncertain significance886063542RCV000340744|RCV000383608; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135136873135136873NC_000009.11:g.135136873C>TClinGen:CA10629178CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2639T>C23064SETXUncertain significance886063543RCV000291603|RCV000344392; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135136987135136987NC_000009.11:g.135136987A>GClinGen:CA10632560CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2610T>G23064SETXUncertain significance530469492RCV000314097|RCV000392179; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135137016135137016NC_000009.11:g.135137016A>CClinGen:CA10626610CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2576_*2577del23064SETXUncertain significance886063544RCV000352509|RCV001844138; NMedGen:CN239175|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135137049135137050NC_000009.11:g.135137052_135137053delClinGen:CA10632875CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2506T>C23064SETXBenign/Likely benign73545065RCV000313016|RCV000356139; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135137120135137120NC_000009.11:g.135137120A>GClinGen:CA10626611CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2384T>A23064SETXUncertain significance570456500RCV001166866|RCV001166867; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351372421351372429:g.135137242A>T-
NM_015046.7(SETX):c.*2287T>C23064SETXUncertain significance1842428001RCV001166868|RCV001166869; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351373391351373399:g.135137339A>G-
NM_015046.7(SETX):c.*2262A>G23064SETXBenign997784RCV000259343|RCV000300482|RCV001675882; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135137364135137364NC_000009.11:g.135137364T>CClinGen:CA10626615CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2232T>C23064SETXBenign/Likely benign545456048RCV000265113|RCV000355287; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135137394135137394NC_000009.11:g.135137394A>GClinGen:CA10632876CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2190A>G23064SETXConflicting interpretations of pathogenicity531640605RCV001168578|RCV001168579; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351374361351374369:g.135137436T>C-
NM_015046.7(SETX):c.*2136A>T23064SETXUncertain significance886063545RCV000320309|RCV000379463; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135137490135137490NC_000009.11:g.135137490T>AClinGen:CA10632880CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2065dup23064SETXUncertain significance886063546RCV000326054|RCV001844139; NMedGen:CN239175|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135137560135137561NC_000009.11:g.135137561dupClinGen:CA10632563CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*2016G>A23064SETXUncertain significance752950104RCV001168580|RCV001168581; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351376101351376109:g.135137610C>T-
NM_015046.7(SETX):c.*2015C>T23064SETXUncertain significance552487555RCV001168582|RCV001168583; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351376111351376119:g.135137611G>A-
NM_015046.7(SETX):c.*2002A>G23064SETXUncertain significance886063547RCV000290702|RCV000385225; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135137624135137624NC_000009.11:g.135137624T>CClinGen:CA10632567CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1987T>C23064SETXUncertain significance1589593075RCV001169348|RCV001169347; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351376391351376399:g.135137639A>G-
NM_015046.7(SETX):c.*1803G>A23064SETXConflicting interpretations of pathogenicity556145432RCV001169349|RCV001169350; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351378231351378239:g.135137823C>T-
NM_015046.7(SETX):c.*1800C>T23064SETXUncertain significance147200829RCV001169351|RCV001169352; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351378261351378269:g.135137826G>A-
NM_015046.7(SETX):c.*1722A>G23064SETXUncertain significance963398615RCV001166411|RCV001166410; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351379041351379049:g.135137904T>C-
NM_015046.7(SETX):c.*1713C>T23064SETXUncertain significance771853459RCV000350358|RCV000386241; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135137913135137913NC_000009.11:g.135137913G>AClinGen:CA10632568CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1700G>T23064SETXBenign/Likely benign75682594RCV000296663|RCV000351268|RCV001778952; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135137926135137926NC_000009.11:g.135137926C>AClinGen:CA10632569CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1688A>G23064SETXUncertain significance773351268RCV001166412|RCV001166413; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351379381351379389:g.135137938T>C-
NM_015046.7(SETX):c.*1534G>A23064SETXUncertain significance886063548RCV000297443|RCV000398411; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135138092135138092NC_000009.11:g.135138092C>TClinGen:CA10629181CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1523A>G23064SETXUncertain significance758582946RCV000338393|RCV000393989; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138103135138103NC_000009.11:g.135138103T>CClinGen:CA10632881CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1494A>G23064SETXUncertain significance1327797847RCV001166943|RCV001166944; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351381321351381329:g.135138132T>C-
NM_015046.7(SETX):c.*1487A>G23064SETXUncertain significance1842460355RCV001166945|RCV001166946; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351381391351381399:g.135138139T>C-
NM_015046.7(SETX):c.*1454C>G23064SETXUncertain significance561712582RCV000303464|RCV000358354; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138172135138172NC_000009.11:g.135138172G>CClinGen:CA10632882CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1442T>G23064SETXUncertain significance886063549RCV000304202|RCV000405220; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135138184135138184NC_000009.11:g.135138184A>CClinGen:CA10626616CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1433A>T23064SETXUncertain significance886063550RCV000268837|RCV000363573; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138193135138193NC_000009.11:g.135138193T>AClinGen:CA10632883CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1420A>T23064SETXUncertain significance751833631RCV001168660|RCV001168661; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351382061351382069:g.135138206T>A-
NM_015046.7(SETX):c.*1370G>C23064SETXBenign116822064RCV001169424|RCV001169425; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351382561351382569:g.135138256C>G-
NM_015046.7(SETX):c.*1368G>A23064SETXBenign7025RCV000328543|RCV000364540; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138258135138258NC_000009.11:g.135138258C>TClinGen:CA10632573CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1365G>T23064SETXBenign7875801RCV000274615|RCV000329618; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135138261135138261NC_000009.11:g.135138261C>AClinGen:CA10626618CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1288T>C23064SETXBenign72765812RCV000294988|RCV000388856; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138338135138338NC_000009.11:g.135138338A>GClinGen:CA10626619CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1233A>G23064SETXUncertain significance1388263414RCV001166482|RCV001166483; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351383931351383939:g.135138393T>C-
NM_015046.7(SETX):c.*1224G>C23064SETXBenign10491906RCV000317243|RCV000371968; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135138402135138402NC_000009.11:g.135138402C>GClinGen:CA10632576CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1148T>G23064SETXBenign138991890RCV001166484|RCV001166485; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351384781351384789:g.135138478A>C-
NM_015046.7(SETX):c.*1148T>C23064SETXUncertain significance138991890RCV001166486|RCV001166487; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351384781351384789:g.135138478A>G-
NM_015046.7(SETX):c.*1052T>A23064SETXBenign12349210RCV000282127|RCV000336907; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138574135138574NC_000009.11:g.135138574A>TClinGen:CA10626620CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*1050A>C23064SETXUncertain significance1842477894RCV001167011|RCV001167010; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351385761351385769:g.135138576T>G-
NM_015046.7(SETX):c.*988G>A23064SETXUncertain significance182693244RCV000283206|RCV000400001; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138638135138638NC_000009.11:g.135138638C>TClinGen:CA10626623CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*905A>G23064SETXBenign/Likely benign58327306RCV000342852|RCV000408178; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138721135138721NC_000009.11:g.135138721T>CClinGen:CA10629203CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*891T>C23064SETXUncertain significance573743210RCV000306944|RCV000366163; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138735135138735NC_000009.11:g.135138735A>GClinGen:CA10632884CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*869C>T23064SETXUncertain significance1354270999RCV001168721|RCV001168720; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351387571351387579:g.135138757G>A-
NM_015046.7(SETX):c.*849G>T23064SETXBenign74975459RCV000312866|RCV000408186; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138777135138777NC_000009.11:g.135138777C>AClinGen:CA10629227CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*717T>C23064SETXBenign17148857RCV000277680|RCV000367475; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138909135138909NC_000009.11:g.135138909A>GClinGen:CA10632888CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*666C>G23064SETXUncertain significance886063551RCV000332758|RCV000354933; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135138960135138960NC_000009.11:g.135138960G>CClinGen:CA10626624CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*626C>T23064SETXBenign11795382RCV000259416|RCV000319268; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139000135139000NC_000009.11:g.135139000G>AClinGen:CA10632587CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*608G>C23064SETXUncertain significance528924481RCV001169487|RCV001169488; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351390181351390189:g.135139018C>G-
NM_015046.7(SETX):c.*562C>A23064SETXBenign11787894RCV000283999|RCV000373909; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139064135139064NC_000009.11:g.135139064G>TClinGen:CA10626627CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*561A>C23064SETXBenign73661150RCV000320373|RCV000379556; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139065135139065NC_000009.11:g.135139065T>GClinGen:CA10632596CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*548A>T23064SETXBenign139883935RCV000285179|RCV000345809; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351390781351390789:g.135139078T>AClinGen:CA10632891CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*491G>A23064SETXUncertain significance1285017063RCV001165469|RCV001165470; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351391351351391359:g.135139135C>T-
NM_015046.7(SETX):c.*475A>C23064SETXBenign/Likely benign60760878RCV001165471|RCV001165472|RCV001840786; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C366190091351391511351391519:g.135139151T>G-
NM_015046.7(SETX):c.*431_*432del23064SETXBenign/Likely benign112251805RCV000292123|RCV001653750|RCV001844140|RCV003233628; NMedGen:CN239175|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351391941351391959:g.135139194_135139195delClinGen:CA10626628CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*351G>T23064SETXBenign/Likely benign117409290RCV000347038|RCV000391278|RCV001785605; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C366190091351392751351392759:g.135139275C>AClinGen:CA10632892CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*319C>T23064SETXBenign/Likely benign1056912RCV000312004|RCV000352775|RCV001556250; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C366190091351393071351393079:g.135139307G>AClinGen:CA10632893CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*266A>G23064SETXConflicting interpretations of pathogenicity575959163RCV000298691|RCV000391273; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351393601351393609:g.135139360T>CClinGen:CA10626629CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.*254C>T23064SETXConflicting interpretations of pathogenicity11545230RCV001167068|RCV001167067|RCV001847182; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:68591351393721351393729:g.135139372G>A-
NM_015046.7(SETX):c.*168C>T23064SETXBenign/Likely benign115351494RCV001167643|RCV001167644; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351394581351394589:g.135139458G>A-
NM_015046.7(SETX):c.*13A>T23064SETXUncertain significance1204954131RCV001167645|RCV001167646; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351396131351396139:g.135139613T>A-
NC_000009.12:g.(?_132264229)_(132349438_?)dup23064SETXUncertain significance-1RCV001033808; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139616135224825-1-
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)23064SETXUncertain significance749325764RCV000795479; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351396291351396299:g.135139629T>A-
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)23064SETXUncertain significance-1RCV002894996; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139629135139630NC_000009.11:g.135139633dup-
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)23064SETXUncertain significance-1RCV002943636; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139635135139638NC_000009.11:g.135139635CTTT[1]-
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)23064SETXBenign/Likely benign143798689RCV000992960|RCV001053419|RCV003233913|RCV003233914; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351396691351396699:g.135139669A>G-
NM_015046.7(SETX):c.7990C>T (p.Leu2664=)23064SETXLikely benign200826214RCV001395295; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139670135139670135139670-
NM_015046.7(SETX):c.7984del (p.Arg2662fs)23064SETXUncertain significance2131109788RCV001979269; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139676135139676135139675-
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)23064SETXConflicting interpretations of pathogenicity199921065RCV001044932|RCV002261259|RCV002409408; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MeSH:D030342,MedGen:C095012391351396781351396789:g.135139678T>C-
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)23064SETXUncertain significance567672087RCV001509368|RCV002421162|RCV003234071|RCV003399267|RCV003234072; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139681135139681135139681-
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)23064SETXConflicting interpretations of pathogenicity779793402RCV001243506|RCV001509369; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN51720291351396881351396889:g.135139688T>C-
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)23064SETXConflicting interpretations of pathogenicity745394467RCV001812480|RCV002418877|RCV003234023|RCV003234022; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139693135139693135139693-
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)23064SETXUncertain significance-1RCV002416846|RCV003234195|RCV003103460|RCV003234194; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135139699135139712135139698-
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)23064SETXBenign-1RCV002917204; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139716135139716-
NM_015046.7(SETX):c.7941T>C (p.Gly2647=)23064SETXLikely benign1471003365RCV001505901; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351397191351397199:g.135139719A>G-
NM_015046.7(SETX):c.7926G>A (p.Glu2642=)23064SETXLikely benign147986724RCV001502269; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351397341351397349:g.135139734C>T-
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)23064SETXConflicting interpretations of pathogenicity80296256RCV000263441|RCV000353602|RCV000876067|RCV001081221|RCV001700364; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351397461351397469:g.135139746G>AClinGen:CA5296290CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val)23064SETXBenign144706487RCV001053416; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351397481351397489:g.135139748A>C-
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)23064SETXBenign/Likely benign112201716RCV000549819|RCV001569094|RCV001662569|RCV003233739|RCV003233740; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18691351397551351397559:g.135139755G>AClinGen:CA5296292C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)23064SETXConflicting interpretations of pathogenicity-1RCV002416595|RCV003120965; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139765135139765135139765-
NM_015046.7(SETX):c.7881G>A (p.Glu2627=)23064SETXLikely benign-1RCV002958009; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139779135139779-
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)23064SETXLikely benign536241867RCV001089092|RCV000876972|RCV003233884|RCV003233883; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091351397851351397859:g.135139785C>T-
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)23064SETXConflicting interpretations of pathogenicity553413088RCV000299852|RCV000359404|RCV001662350|RCV003372694; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MeSH:D030342,MedGen:C095012391351397861351397869:g.135139786G>AClinGen:CA5296299CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)23064SETXConflicting interpretations of pathogenicity141589525RCV000537182|RCV001662568|RCV002461309|RCV002413562; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C09501239135139790135139790NC_000009.11:g.135139790C>AClinGen:CA5296301C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg)23064SETXUncertain significance778362262RCV001910223; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139800135139800135139800-
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)23064SETXLikely benign-1RCV002872158; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139803135139803-
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)23064SETXConflicting interpretations of pathogenicity1421049695RCV002227352|RCV002409625|RCV003234170|RCV003234169; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139804135139804135139804-
NM_015046.7(SETX):c.7851G>A (p.Thr2617=)23064SETXConflicting interpretations of pathogenicity747616517RCV001169541|RCV001169540|RCV001428326; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351398091351398099:g.135139809C>T-
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr)23064SETXUncertain significance979454428RCV001944748; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139817135139817135139817-
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)23064SETXConflicting interpretations of pathogenicity-1RCV003082971|RCV003312075; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C36619009135139820135139820NC_000009.11:g.135139820C>T-
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)23064SETXBenign3739927RCV000176675|RCV000264707|RCV000324607|RCV000713233|RCV001512044; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C18691351398261351398269:g.135139826T>CClinGen:CA202060,UniProtKB:Q7Z333#VAR_018793CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)23064SETXUncertain significance765888424RCV000268907|RCV000379200; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139835135139835NC_000009.11:g.135139835G>CClinGen:CA10632900CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)23064SETXBenign/Likely benign764270386RCV000992959|RCV002550649|RCV003233912|RCV003233911; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091351398421351398429:g.135139842G>A-
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)23064SETXConflicting interpretations of pathogenicity543247171RCV000328640|RCV000383186|RCV000699627|RCV000999251; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351398461351398469:g.135139846C>TClinGen:CA5296314C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7810G>A (p.Val2604Met)23064SETXUncertain significance757554863RCV001364479; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139850135139850135139850-
NM_015046.7(SETX):c.7809C>T (p.Pro2603=)23064SETXLikely benign766063614RCV001463054; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139851135139851135139851-
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)23064SETXConflicting interpretations of pathogenicity200507089RCV000293531|RCV000348329|RCV002523741|RCV002411265; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139873135139873NC_000009.11:g.135139873G>AClinGen:CA5296324CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala)23064SETXUncertain significance905773255RCV001897756; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139882135139882135139882-
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)23064SETXConflicting interpretations of pathogenicity1842534708RCV001165532|RCV001165533|RCV002264210; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C366190091351398851351398859:g.135139885G>A-
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)23064SETXUncertain significance146862359RCV001165534|RCV001165535; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351398891351398899:g.135139889C>T-
NM_015046.7(SETX):c.7770C>T (p.Pro2590=)23064SETXLikely benign532828022RCV001434599; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351398901351398909:g.135139890G>A-
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer)23064SETXUncertain significance2131111712RCV002025046; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139895135139896135139895-
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)23064SETXUncertain significance-1RCV002851578; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139897135139897NC_000009.11:g.135139897T>C-
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)23064SETXBenign1056899RCV000081702|RCV000294610|RCV000388921|RCV000713232|RCV001522459; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891351399011351399019:g.135139901T>CClinGen:CA148730,UniProtKB:Q7Z333#VAR_018792CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)23064SETXUncertain significance1842537896RCV001167129|RCV001167130; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351399101351399109:g.135139910G>A-
NM_015046.7(SETX):c.7749C>T (p.Asp2583=)23064SETXLikely benign754701648RCV000516595|RCV002060259|RCV002404332|RCV003233698|RCV003233699; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291351399111351399119:g.135139911G>AClinGen:CA5296335CN169374 not specified;
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)23064SETXBenign/Likely benign530686162RCV001288749|RCV002541794|RCV003234027|RCV003234028; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135139919135139919135139919-
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)23064SETXConflicting interpretations of pathogenicity370366576RCV000518348|RCV002404331|RCV003233697|RCV003233696; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139922135139922NC_000009.11:g.135139922C>TClinGen:CA5296340CN169374 not specified;
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly)23064SETXUncertain significance2131112014RCV001896503; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139924135139924135139924-
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)23064SETXConflicting interpretations of pathogenicity144121978RCV000335520|RCV000399643|RCV001509370|RCV001861344|RCV002402087; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135139925135139925NC_000009.11:g.135139925C>TClinGen:CA5296343CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)23064SETXConflicting interpretations of pathogenicity144121978RCV001509371|RCV001865960|RCV002568009; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135139925135139925135139925-
NM_015046.7(SETX):c.7725G>A (p.Pro2575=)23064SETXLikely benign201695580RCV001498846|RCV002071876|RCV003234069|RCV003234070; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135139935135139935135139935-
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)23064SETXLikely benign-1RCV002908360; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139935135139935-
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)23064SETXConflicting interpretations of pathogenicity34000644RCV000300843|RCV000337112|RCV000556745|RCV000507046|RCV001643105|RCV001848723|RCV002402088; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139936135139936NC_000009.11:g.135139936G>AClinGen:CA5296347C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)23064SETXConflicting interpretations of pathogenicity145345675RCV001816518|RCV002541948; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139940135139940135139940-
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)23064SETXBenign-1RCV002908641; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139944135139944-
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)23064SETXLikely benign773364996RCV001243333; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351399451351399459:g.135139945G>A-
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)23064SETXUncertain significance770590408RCV000517452|RCV000544223|RCV003233694|RCV003233695; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351399471351399499:g.135139947_135139949delClinGen:CA5296353C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7713T>C (p.Pro2571=)23064SETXLikely benign2131112226RCV001414969; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135139947135139947135139947-
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)23064SETXUncertain significance1240232139RCV000644818; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351399521351399529:g.135139952G>AClinGen:CA375323518C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)23064SETXConflicting interpretations of pathogenicity147705644RCV001365341|RCV002404871|RCV003128783; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:C36619009135139978135139978135139978-
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg)23064SETXBenign756715534RCV001320464; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135139994135139994135139994-
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)23064SETXConflicting interpretations of pathogenicity368269464RCV000644827|RCV003403489|RCV002388094; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MeSH:D030342,MedGen:C09501239135140000135140000NC_000009.11:g.135140000A>TClinGen:CA5296362C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)23064SETXConflicting interpretations of pathogenicity368269464RCV000689472|RCV002473108; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN5172029135140000135140000NC_000009.11:g.135140000A>G-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)23064SETXUncertain significance1842546596RCV001167706|RCV001167707; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351400121351400129:g.135140012T>C-
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter)23064SETXUncertain significance1039417117RCV001957009; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140018135140019135140018-
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)23064SETXConflicting interpretations of pathogenicity151117904RCV000143819|RCV000251546|RCV000302102|RCV000393538|RCV001080640|RCV001260210|RCV001847770; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C18691351400201351400209:g.135140020A>GClinGen:CA233108,UniProtKB:Q7Z333#VAR_071688C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7637del (p.Gly2546fs)23064SETXUncertain significance-1RCV003020584; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140023135140023NC_000009.11:g.135140025del-
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)23064SETXUncertain significance-1RCV003020585; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140026135140026NC_000009.11:g.135140026A>T-
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg)23064SETXUncertain significance2131113093RCV001980635; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140050135140050135140050-
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr)23064SETXUncertain significance202121071RCV001041585; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351400631351400639:g.135140063G>A-
NM_015046.7(SETX):c.7590T>A (p.Pro2530=)23064SETXLikely benign1374204163RCV000544597|RCV002395413|RCV003233738|RCV003233737; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135140070135140070NC_000009.11:g.135140070A>TClinGen:CA467504947C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)23064SETXUncertain significance-1RCV003021273; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140075135140075NC_000009.11:g.135140075T>C-
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp)23064SETXUncertain significance2131113303RCV001362804; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140076135140076135140076-
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys)23064SETXUncertain significance2131113325RCV002022286; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140078135140078135140078-
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)23064SETXLikely benign-1RCV003078977; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140092135140092NC_000009.11:g.135140092G>A-
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)23064SETXBenign-1RCV002926653; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140108135140108NC_000009.11:g.135140108T>C-
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)23064SETXUncertain significance-1RCV002805799; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140111135140111NC_000009.11:g.135140111C>T-
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)23064SETXUncertain significance557347174RCV000688915; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140126135140126NC_000009.11:g.135140126G>A-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)23064SETXBenign-1RCV002587099; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140128135140128NC_000009.11:g.135140128G>A-
NM_015046.7(SETX):c.7530C>G (p.His2510Gln)23064SETXUncertain significance1303389955RCV001209320; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351401301351401309:g.135140130G>C-
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)23064SETXBenign-1RCV002608859; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140132135140132NC_000009.11:g.135140132G>A-
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)23064SETXConflicting interpretations of pathogenicity1160553456RCV000713231|RCV001861987|RCV003338745; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140144135140144NC_000009.11:g.135140144C>T-
NM_015046.7(SETX):c.7494A>C (p.Gly2498=)23064SETXLikely benign1404779640RCV002187527; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140166135140166135140166-
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)23064SETXConflicting interpretations of pathogenicity61735488RCV000516539|RCV000531955|RCV001509372|RCV002395238; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202|MeSH:D030342,MedGen:C095012391351401701351401709:g.135140170C>TClinGen:CA5296378C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)23064SETXUncertain significance-1RCV002391531|RCV002464658|RCV003234193|RCV003234192; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140172135140172135140172-
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn)23064SETXUncertain significance1564464193RCV000698547; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140178135140178NC_000009.11:g.135140178C>G-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)23064SETXUncertain significance755711135RCV001871125|RCV003164238; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135140179135140179135140179-
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr)23064SETXUncertain significance1842557730RCV001238059; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351401851351401859:g.135140185C>G-
NM_015046.7(SETX):c.7473C>T (p.Pro2491=)23064SETXLikely benign1173009713RCV001311795|RCV002071868|RCV003234036|RCV003234037; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135140187135140187135140187-
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)23064SETXUncertain significance-1RCV003031548; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140199135140199NC_000009.11:g.135140199C>G-
NM_015046.7(SETX):c.7458C>G (p.Pro2486=)23064SETXLikely benign2131114205RCV002187520; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140202135140202135140202-
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)23064SETXConflicting interpretations of pathogenicity-1RCV002385128|RCV003099642; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140206135140206135140206-
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)23064SETXLikely pathogenic183776349RCV001977831; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140213135140213135140213-
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys)23064SETXUncertain significance2131114345RCV002024028; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140216135140216135140216-
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)23064SETXConflicting interpretations of pathogenicity376524608RCV001324450|RCV002546112; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135140221135140221135140221-
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser)23064SETXUncertain significance771027936RCV000644813; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140227135140227NC_000009.11:g.135140227G>CClinGen:CA375325541C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)23064SETXConflicting interpretations of pathogenicity142303658RCV000518280|RCV000624322|RCV000764810|RCV001731743|RCV001702669; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C366190091351402281351402289:g.135140228T>CClinGen:CA5296390C0950123 Inborn genetic diseases;
NM_015046.7(SETX):c.7427C>A (p.Pro2476His)23064SETXUncertain significance767515528RCV002020624; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140233135140233135140233-
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)23064SETXUncertain significance760196991RCV000585562|RCV001860112|RCV003420021|RCV003233754|RCV003233755; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024391351402431351402439:g.135140243G>CClinGen:CA5296396CN517202 not provided;
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)23064SETXUncertain significance1382990384RCV000644829|RCV003140032; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN51720291351402471351402479:g.135140247T>AClinGen:CA375325625C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)23064SETXConflicting interpretations of pathogenicity151304085RCV000266732|RCV000361458|RCV002524586|RCV002379256; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140254135140254NC_000009.11:g.135140254A>GClinGen:CA5296398CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr)23064SETXUncertain significance1182285610RCV001167708|RCV001167709; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351402851351402859:g.135140285C>T-
NM_015046.7(SETX):c.7371T>C (p.His2457=)23064SETXBenign/Likely benign113071480RCV000307888|RCV000362769|RCV000556056|RCV001083549|RCV002379257|RCV001848724; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135140289135140289NC_000009.11:g.135140289A>GClinGen:CA5296400C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7370A>G (p.His2457Arg)23064SETXUncertain significance753051382RCV001903750; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140290135140290135140290-
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)23064SETXUncertain significance-1RCV002959175; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140321135140321NC_000009.11:g.135140321T>G-
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)23064SETXConflicting interpretations of pathogenicity372535542RCV000778875|RCV001169582|RCV002386359; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135140330135140330NC_000009.11:g.135140330G>A-
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val)23064SETXUncertain significance1564464665RCV000680096; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351403511351403519:g.135140351G>C-C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.7292dup (p.Asn2431fs)23064SETXPathogenic2131115543RCV001647241; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140367135140368135140367-
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)23064SETXUncertain significance912160285RCV001169584|RCV001169583; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351403701351403709:g.135140370T>A-
NM_015046.7(SETX):c.7288-14C>T23064SETXLikely benign-1RCV002781209; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135140386135140386NC_000009.11:g.135140386G>A-
NM_015046.7(SETX):c.7288-19C>T23064SETXLikely benign368143983RCV002190078; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135140391135140391135140391-
NM_015046.7(SETX):c.7287+207C>T23064SETXLikely benign45490698RCV001577272|RCV003234082|RCV003234083; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135144795135144795135144795-
NM_015046.7(SETX):c.7287+9C>A23064SETXConflicting interpretations of pathogenicity769170686RCV000272756|RCV000327969|RCV002523742; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135144993135144993NC_000009.11:g.135144993G>TClinGen:CA5296454CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.7281C>G (p.Thr2427=)23064SETXLikely benign1482971726RCV001417669; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135145008135145008135145008-
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)23064SETXUncertain significance-1RCV002603851; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135145018135145018NC_000009.11:g.135145018T>C-
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)23064SETXLikely benign-1RCV002620998; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135145041135145041-
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)23064SETXLikely benign-1RCV002908494; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135145055135145055NC_000009.11:g.135145055T>C-
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)23064SETXUncertain significance1402767850RCV000690239; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351450851351450859:g.135145085G>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)23064SETXBenign-1RCV003077423; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135145086135145086-
NM_015046.7(SETX):c.7200-10dup23064SETXBenign/Likely benign531485265RCV000555232|RCV001079150|RCV001848956|RCV003233733|RCV003233734; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:60600291351450981351450999:g.135145098_135145099insAClinGen:CA5296464C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7200-11_7200-10del23064SETXConflicting interpretations of pathogenicity531485265RCV000508073|RCV000543498|RCV001088238; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351450991351451009:g.135145099_135145100delClinGen:CA5296463C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7200-15T>C23064SETXLikely benign754019832RCV002118502; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135145104135145104135145104-
NM_015046.7(SETX):c.7199+17G>T23064SETXLikely benign768161524RCV002129177; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135147080135147080135147080-
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)23064SETXUncertain significance150489999RCV000992958|RCV001041927|RCV003233910|RCV003233909; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091351471011351471019:g.135147101T>C-
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe)23064SETXUncertain significance150489999RCV001210001; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351471011351471019:g.135147101T>A-
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp)23064SETXUncertain significance2131148064RCV001955637; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135147106135147106135147106-
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)23064SETXBenign-1RCV003121420; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135147117135147117-
NM_015046.7(SETX):c.7164G>C (p.Thr2388=)23064SETXLikely benign368602563RCV002065626; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351471321351471329:g.135147132C>G-
NM_015046.7(SETX):c.7164G>A (p.Thr2388=)23064SETXLikely benign368602563RCV001455918; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135147132135147132135147132-
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)23064SETXUncertain significance201887051RCV000992957|RCV002282419|RCV003233907|RCV003233908; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351471391351471399:g.135147139A>G-
NM_015046.7(SETX):c.7146G>A (p.Lys2382=)23064SETXLikely benign2131148463RCV002177485; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135147150135147150135147150-
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)23064SETXConflicting interpretations of pathogenicity145397619RCV000518213|RCV000524648|RCV001814998|RCV003233692|RCV003233693; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1869135147157135147157NC_000009.11:g.135147157C>TClinGen:CA5296494C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)23064SETXBenign/Likely benign150673589RCV000242830|RCV000274061|RCV000333920|RCV000553059|RCV001529366|RCV001848036; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135147182135147182NC_000009.11:g.135147182C>TClinGen:CA5296498C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)23064SETXUncertain significance1420833435RCV001001201|RCV002363533|RCV003233921|RCV003233922; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351471931351471939:g.135147193G>C-
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)23064SETXBenign/Likely benign79233884RCV000506543|RCV000540713|RCV001848877|RCV003233656|RCV003233657|RCV003431055; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:60600291351471951351471959:g.135147195T>CClinGen:CA5296501C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7101-16T>C23064SETXUncertain significance-1RCV002927530; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135147211135147211NC_000009.11:g.135147211A>G-
NM_015046.7(SETX):c.7100+27A>G23064SETXBenign2296865RCV000252677|RCV001660326|RCV003233532|RCV003233533; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351506161351506169:g.135150616T>CClinGen:CA5296513CN169374 not specified;
NM_015046.7(SETX):c.7100+9T>C23064SETXConflicting interpretations of pathogenicity200088320RCV000713230|RCV001165604|RCV001087251|RCV001165603|RCV001848955; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351506341351506349:g.135150634A>GClinGen:CA5296516C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.7100+7C>T23064SETXUncertain significance-1RCV003001816; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135150636135150636NC_000009.11:g.135150636G>A-
NM_015046.7(SETX):c.7100+3G>A23064SETXUncertain significance752203746RCV001165605|RCV001165606; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351506401351506409:g.135150640C>T-
NM_015046.7(SETX):c.7100+2T>C23064SETXLikely pathogenic-1RCV003062238; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135150641135150641NC_000009.11:g.135150641A>G-
NM_015046.7(SETX):c.7092T>C (p.Asp2364=)23064SETXConflicting interpretations of pathogenicity144607919RCV000875363|RCV001088640; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351506511351506519:g.135150651A>G-
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)23064SETXBenign-1RCV002616880; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135150653135150653NC_000009.11:g.135150653C>T-
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)23064SETXConflicting interpretations of pathogenicity141497098RCV000876529|RCV001165608|RCV001165607; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351506541351506549:g.135150654G>A-
NM_015046.7(SETX):c.7059G>A (p.Thr2353=)23064SETXLikely benign-1RCV002781294; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135150684135150684-
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met)23064SETXBenign201629099RCV001912890; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135150685135150685135150685-
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)23064SETXLikely benign141657462RCV001298228; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135150738135150738135150738-
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu)23064SETXUncertain significance781671592RCV001372612; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135150773135150773135150773-
NM_015046.7(SETX):c.6936-11A>G23064SETXBenign146193654RCV002086839; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135150818135150818135150818-
NM_015046.7(SETX):c.6936-27T>G23064SETXBenign2296866RCV000247913|RCV001722328|RCV003233531|RCV003233530; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135150834135150834NC_000009.11:g.135150834A>CClinGen:CA5296553CN169374 not specified;
NM_015046.7(SETX):c.6935+8T>C23064SETXBenign17148873RCV000243147|RCV000278341|RCV000388449|RCV000576349|RCV001516018; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891351524391351524399:g.135152439A>GClinGen:CA5296571C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del)23064SETXUncertain significance-1RCV003224767; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135152449135152451-
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp)23064SETXUncertain significance1490101518RCV001314993; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135152457135152457135152457-
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly)23064SETXLikely benign370135596RCV000692093; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135152460135152460NC_000009.11:g.135152460T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr)23064SETXUncertain significance774458684RCV000332533|RCV000725420|RCV003233536|RCV003233537; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351524721351524729:g.135152472C>AClinGen:CA5296581CN169374 not specified;
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)23064SETXPathogenic/Likely pathogenic1331217337RCV001009256|RCV002549297|RCV003233924; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351524841351524859:g.135152484_135152485insC-
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)23064SETXBenign-1RCV002895518; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135152503135152503-
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter)23064SETXLikely pathogenic1339011741RCV001823516; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135152523135152523135152523-
NM_015046.6(SETX):c.6848_6851delCAGA23064SETXConflicting interpretations of pathogenicity-1RCV000176318|RCV000686045|RCV000988267|RCV003233105; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091351525311351525349:g.135152531_135152534delClinGen:CA223172C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.6843-3_6843-1del23064SETXLikely pathogenic1186690391RCV001040446; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351525401351525429:g.135152540_135152542del-
NM_015046.7(SETX):c.6843-6_6843-5dup23064SETXConflicting interpretations of pathogenicity34769225RCV000373976|RCV000873863|RCV001545280|RCV001844141; NMedGen:CN239175|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135152543135152544NC_000009.11:g.135152554_135152555dupClinGen:CA5296591CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.6843-4A>T23064SETXConflicting interpretations of pathogenicity1466427179RCV001412584|RCV002368290; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135152543135152543135152543-
NM_015046.7(SETX):c.6843-16dup23064SETXBenign34769225RCV001512045|RCV001573690|RCV001528859|RCV003234073|RCV003234074; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1869135152543135152544135152543-
NM_015046.7(SETX):c.6843-5del23064SETXBenign34769225RCV001811560|RCV001579450|RCV002068748|RCV003233917|RCV003233918; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18691351525441351525449:g.135152544_135152544del-
NM_015046.7(SETX):c.6843-5T>A23064SETXLikely benign943904959RCV001422583; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135152544135152544135152544-
NM_015046.7(SETX):c.6842+15T>A23064SETXLikely benign-1RCV002932933; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135153442135153442NC_000009.11:g.135153442A>T-
NM_015046.7(SETX):c.6842+1G>T23064SETXLikely pathogenic1038776365RCV001983771; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153456135153456135153456-
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp)23064SETXUncertain significance1843269972RCV002037290; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135153461135153461135153461-
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)23064SETXConflicting interpretations of pathogenicity189444354RCV000992954|RCV001167193|RCV001167194|RCV002550648; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091351534701351534709:g.135153470A>G-
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala)23064SETXUncertain significance1843271572RCV001229710; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351534841351534849:g.135153484A>G-
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)23064SETXUncertain significance-1RCV002912884; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153490135153490NC_000009.11:g.135153490T>C-
NM_015046.7(SETX):c.6808A>C (p.Asn2270His)23064SETXUncertain significance1843272035RCV001347599; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153491135153491135153491-
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr)23064SETXUncertain significance1421665944RCV001982434; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153494135153494135153494-
NM_015046.7(SETX):c.6804T>A (p.Pro2268=)23064SETXLikely benign145236863RCV002071669; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153495135153495135153495-
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)23064SETXUncertain significance148041889RCV000144866|RCV002515947; NMONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153507135153507NC_000009.11:g.135153507T>CClinGen:CA270929C0007959 Charcot-Marie-Tooth disease;
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu)23064SETXUncertain significance1843274414RCV002012977; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135153509135153509135153509-
NM_015046.7(SETX):c.6771G>A (p.Gln2257=)23064SETXLikely benign778895541RCV000874778; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351535281351535289:g.135153528C>T-
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)23064SETXUncertain significance-1RCV003030640; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135153535135153535NC_000009.11:g.135153535G>A-
NM_015046.7(SETX):c.6762C>T (p.Leu2254=)23064SETXLikely benign1225106822RCV001416568; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351535371351535379:g.135153537G>A-
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)23064SETXUncertain significance-1RCV002369176|RCV003098350|RCV003234189|RCV003234190; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135153566135153566135153566-
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)23064SETXPathogenic/Likely pathogenic752122764RCV000992953|RCV002363518|RCV003233906; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351535691351535709:g.135153569_135153570del-
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys)23064SETXUncertain significance2131182464RCV001884469; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153587135153587135153587-
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys)23064SETXLikely pathogenic759299299RCV002052234; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153605135153605135153605-
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu)23064SETXBenign752107891RCV001343369; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153621135153621135153621-
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)23064SETXBenign-1RCV002586250; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153623135153623NC_000009.11:g.135153623C>T-
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)23064SETXConflicting interpretations of pathogenicity200382898RCV000281744|RCV000339149|RCV002365438; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135153624135153624NC_000009.11:g.135153624G>AClinGen:CA5296643CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)23064SETXConflicting interpretations of pathogenicity747913385RCV001214631|RCV003313191; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN51720291351536311351536319:g.135153631T>C-
NM_015046.7(SETX):c.6655-24G>A23064SETXBenign11243704RCV000250557|RCV001636798|RCV003233529|RCV003233528; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135153668135153668NC_000009.11:g.135153668C>TClinGen:CA5296648CN169374 not specified;
NC_000009.11:g.(?_135156834)_(135156981_?)del23064SETXUncertain significance-1RCV001979755; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135156834135156981-1-
NM_015046.7(SETX):c.6654+12A>G23064SETXLikely benign1015821444RCV002135385; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135156842135156842135156842-
NM_015046.7(SETX):c.6654+5G>A23064SETXUncertain significance1843497922RCV001361461; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135156849135156849135156849-
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)23064SETXPathogenic28940290RCV000002376; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351568701351568709:g.135156870G>AClinGen:CA252178,UniProtKB:Q7Z333#VAR_018791,OMIM:608465.0003C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala)23064SETXUncertain significance1843502057RCV001196414; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351568711351568719:g.135156871G>C-
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)23064SETXPathogenic1564482221RCV000995871; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351568881351568889:g.135156888T>A-
NM_015046.7(SETX):c.6610C>T (p.Leu2204=)23064SETXLikely benign2131200445RCV002166513; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135156898135156898135156898-
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu)23064SETXUncertain significance1843510567RCV001042451; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351569541351569549:g.135156954T>A-
NM_015046.7(SETX):c.6547-15del23064SETXLikely benign-1RCV003093364; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135156976135156976NC_000009.11:g.135156976del-
NM_015046.7(SETX):c.6546+32T>A23064SETXBenign2296873RCV000247371|RCV001668540|RCV003233526|RCV003233527; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351586191351586199:g.135158619A>TClinGen:CA5296692CN169374 not specified;
NM_015046.7(SETX):c.6546+18C>G23064SETXLikely benign915871195RCV002186677; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135158633135158633135158633-
NM_015046.7(SETX):c.6546+10C>T23064SETXLikely benign571194790RCV001407759; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135158641135158641135158641-
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)23064SETXLikely benign-1RCV003070529; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135158672135158672-
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)23064SETXBenign/Likely benign34073320RCV000242598|RCV000285100|RCV000400042|RCV000527335|RCV001589268|RCV001848035; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135158690135158690NC_000009.11:g.135158690C>TClinGen:CA5296701C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys)23064SETXUncertain significance1843647719RCV001222572; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351586951351586959:g.135158695G>A-
NM_015046.7(SETX):c.6474T>C (p.Ser2158=)23064SETXLikely benign1216377543RCV002066088; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351587231351587239:g.135158723A>G-
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)23064SETXConflicting interpretations of pathogenicity1473613373RCV000995872|RCV001858823|RCV003229872; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN51720291351587331351587339:g.135158733A>C-
NM_015046.7(SETX):c.6453C>T (p.Ile2151=)23064SETXLikely benign150599672RCV001416593; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135158744135158744135158744-
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)23064SETXLikely benign-1RCV002690580; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135158756135158756-
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln)23064SETXUncertain significance1387036733RCV002020523; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135158758135158758135158758-
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)23064SETXConflicting interpretations of pathogenicity374110190RCV001167195|RCV001167770|RCV001760116|RCV001847183|RCV002068024; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:60600291351587621351587629:g.135158762G>A-
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)23064SETXPathogenic-1RCV003072839; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135158774135158775NC_000009.11:g.135158775dup-
NM_015046.7(SETX):c.6397-20T>C23064SETXLikely benign-1RCV002786373; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135158820135158820NC_000009.11:g.135158820A>G-
NM_015046.7(SETX):c.6396+16G>A23064SETXLikely benign369168525RCV002200603; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135161794135161794135161794-
NM_015046.7(SETX):c.6396+8G>C23064SETXConflicting interpretations of pathogenicity752365500RCV001167772|RCV001167771|RCV002068029; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351618021351618029:g.135161802C>G-
NM_015046.7(SETX):c.6390T>C (p.Ile2130=)23064SETXLikely benign2131234539RCV002084600; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135161816135161816135161816-
NM_015046.7(SETX):c.6384T>A (p.Ser2128=)23064SETXLikely benign2131234628RCV001447660; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135161822135161822135161822-
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)23064SETXUncertain significance781741533RCV001167773|RCV001167774|RCV002558656; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391351618501351618509:g.135161850A>G-
NM_015046.7(SETX):c.6351C>T (p.Ser2117=)23064SETXLikely benign200269892RCV000874910|RCV001486608|RCV003233873|RCV003233874; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351618551351618559:g.135161855G>A-
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly)23064SETXUncertain significance957607977RCV001243287; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351618651351618659:g.135161865T>C-
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)23064SETXUncertain significance1589647043RCV000810160; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351618681351618689:g.135161868T>A-
NM_015046.7(SETX):c.6324+5C>G23064SETXUncertain significance-1RCV002999498; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135163618135163618NC_000009.11:g.135163618G>C-
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)23064SETXUncertain significance-1RCV003038898; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135163624135163624NC_000009.11:g.135163624T>G-
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)23064SETXPathogenic879253866RCV000235070; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351636251351636259:g.135163625G>AClinGen:CA10584084C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)23064SETXUncertain significance-1RCV002600829; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135163633135163633NC_000009.11:g.135163633C>T-
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)23064SETXConflicting interpretations of pathogenicity142843968RCV000342521|RCV000407208|RCV001358835|RCV001662351|RCV002365439; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135163634135163634NC_000009.11:g.135163634G>AClinGen:CA5296776CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.6282T>C (p.Leu2094=)23064SETXLikely benign-1RCV002791375; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135163665135163665-
NM_015046.7(SETX):c.6276T>C (p.Asp2092=)23064SETXLikely benign759395503RCV000876860; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351636711351636719:g.135163671A>G-
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)23064SETXPathogenic1844047388RCV001226904; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351636791351636799:g.135163679G>A-
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)23064SETXUncertain significance751252138RCV001095487|RCV001212562|RCV002480462|RCV003233948|RCV003233949; NHuman Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGe91351636991351636999:g.135163699C>A-
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)23064SETXUncertain significance-1RCV003055876; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135163720135163720NC_000009.11:g.135163720T>G-
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)23064SETXPathogenic1564492117RCV000680095; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351637311351637329:g.135163731_135163732del-C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.6209-7_6209-6insG23064SETXLikely benign2131246566RCV001499402; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135163744135163745135163744-
NM_015046.7(SETX):c.6209-18_6209-15del23064SETXLikely benign-1RCV002949279; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135163753135163756NC_000009.11:g.135163756_135163759del-
NM_015046.7(SETX):c.6209-19dup23064SETXBenign-1RCV002650605; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135163756135163757NC_000009.11:g.135163762dup-
NM_015046.7(SETX):c.6208+17G>A23064SETXLikely benign182144319RCV002162606; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135163920135163920135163920-
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu)23064SETXUncertain significance755531730RCV001320421|RCV002357149|RCV003234043|RCV003234042; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135163952135163952135163952-
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met)23064SETXUncertain significance2131247894RCV001986338; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135163964135163964135163964-
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)23064SETXUncertain significance747309962RCV000713227|RCV002352234|RCV003233841|RCV003233842; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135163973135163973NC_000009.11:g.135163973T>G-
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)23064SETXConflicting interpretations of pathogenicity200778360RCV001038594|RCV001167775|RCV001169646|RCV003141950; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351639841351639849:g.135163984C>T-
NM_015046.7(SETX):c.6159T>C (p.Asn2053=)23064SETXLikely benign2131248104RCV001488228; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135163986135163986135163986-
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser)23064SETXUncertain significance1429339677RCV001262698; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351639871351639879:g.135163987T>C-
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)23064SETXLikely benign-1RCV003088080; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135163995135163995-
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys)23064SETXUncertain significance762479596RCV002031830; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135164006135164006135164006-
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)23064SETXBenign-1RCV003010062; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135164009135164009-
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)23064SETXConflicting interpretations of pathogenicity140676924RCV000792834|RCV001169647|RCV001169648|RCV001644824|RCV000992948|RCV002352314; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351640231351640239:g.135164023A>G-
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)23064SETXBenign35815657RCV001082476|RCV000713226|RCV003233785|RCV003233786; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351640371351640379:g.135164037T>CClinGen:CA5296826C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.6107-3C>T23064SETXUncertain significance-1RCV002807086; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135164041135164041NC_000009.11:g.135164041G>A-
NM_015046.7(SETX):c.6107-5A>G23064SETXUncertain significance1284217475RCV001967118; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135164043135164043135164043-
NM_015046.7(SETX):c.6107-7T>A23064SETXUncertain significance766634428RCV001757241|RCV003147644; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135164045135164045135164045-
NM_015046.7(SETX):c.6107-19C>T23064SETXLikely benign-1RCV002923193; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135164057135164057NC_000009.11:g.135164057G>A-
NM_015046.7(SETX):c.6106+14G>A23064SETXBenign/Likely benign73661157RCV000250830|RCV000309595|RCV000366684|RCV001561521|RCV002058252; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1869135171245135171245NC_000009.11:g.135171245C>TClinGen:CA5296837CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.6106+13T>C23064SETXLikely benign370909687RCV002141663; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135171246135171246135171246-
NM_015046.7(SETX):c.6106+8A>G23064SETXUncertain significance1314479594RCV001169650|RCV001169649; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351712511351712519:g.135171251T>C-
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg)23064SETXLikely pathogenic863224919RCV001542668; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135171259135171259135171259-
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)23064SETXUncertain significance746525639RCV000585033|RCV003233757|RCV002358643|RCV003233756; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351712801351712809:g.135171280T>CClinGen:CA5296844CN517202 not provided;
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)23064SETXUncertain significance546932016RCV000793058|RCV003344049; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391351713071351713079:g.135171307T>C-
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)23064SETXLikely pathogenic797045068RCV000191127; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351713271351713279:g.135171327A>CClinGen:CA276163C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.6024T>C (p.Pro2008=)23064SETXConflicting interpretations of pathogenicity1045096306RCV001848125|RCV002074408; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135171341135171341135171341-
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)23064SETXLikely benign-1RCV002751234; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135171344135171344-
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr)23064SETXLikely pathogenic200154603RCV003225136; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351713481351713489:g.135171348C>T-
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)23064SETXConflicting interpretations of pathogenicity148568105RCV000762580|RCV001662806|RCV001855957|RCV002352274; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135171352135171352NC_000009.11:g.135171352C>T-
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)23064SETXConflicting interpretations of pathogenicity142917412RCV000644817|RCV002358400|RCV002473039; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MedGen:C366190091351713671351713679:g.135171367G>CClinGen:CA5296854C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser)23064SETXUncertain significance2131284986RCV001904601; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135171379135171379135171379-
NM_015046.7(SETX):c.5970A>G (p.Ser1990=)23064SETXLikely benign1844648216RCV001410428; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135171395135171395135171395-
NM_015046.7(SETX):c.5964G>A (p.Gly1988=)23064SETXLikely benign775658101RCV002098893; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135171401135171401135171401-
NM_015046.7(SETX):c.5950-14G>A23064SETXLikely benign375632375RCV000245256|RCV002518644|RCV003233524|RCV003233525; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351714291351714299:g.135171429C>TClinGen:CA10587020CN169374 not specified;
NM_015046.7(SETX):c.5950-20G>A23064SETXLikely benign-1RCV002790673; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135171435135171435NC_000009.11:g.135171435C>T-
NM_015046.7(SETX):c.5949+13G>T23064SETXLikely benign2131289221RCV002207789; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135172261135172261135172261-
NM_015046.7(SETX):c.5949+4_5949+7del23064SETXUncertain significance1844702677RCV001299763; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135172267135172270135172266-
NM_015046.7(SETX):c.5949+5G>A23064SETXConflicting interpretations of pathogenicity374656811RCV000644836|RCV000713224|RCV001169651|RCV001165667|RCV001706679|RCV001848978|RCV002358638; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135172269135172269NC_000009.11:g.135172269C>TClinGen:CA5296870
NM_015046.7(SETX):c.5949G>A (p.Glu1983=)23064SETXUncertain significance2131289331RCV002012897; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135172274135172274135172274-
NM_015046.7(SETX):c.5941C>T (p.Leu1981=)23064SETXLikely benign373324070RCV002090986; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135172282135172282135172282-
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro)23064SETXUncertain significance761031238RCV001214392; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351722871351722879:g.135172287C>G-
NM_015046.7(SETX):c.5936G>A (p.Arg1979His)23064SETXUncertain significance761031238RCV002004187|RCV002352738|RCV003234157|RCV003234158; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135172287135172287135172287-
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)23064SETXLikely pathogenic121434380RCV000002385|RCV001288413; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN51720291351722941351722949:g.135172294G>AClinGen:CA252191,OMIM:608465.0012C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)23064SETXPathogenic121434379RCV000002382|RCV001781169; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN51720291351722961351722969:g.135172296A>CClinGen:CA252189,UniProtKB:Q7Z333#VAR_072588,OMIM:608465.0009C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.5901A>G (p.Thr1967=)23064SETXLikely benign780717865RCV000535425|RCV001497118|RCV002358542|RCV003233729|RCV003233730; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011229135172322135172322NC_000009.11:g.135172322T>CClinGen:CA200818925C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)23064SETXUncertain significance-1RCV002967107; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135172330135172330NC_000009.11:g.135172330G>A-
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser)23064SETXUncertain significance1403263153RCV002244191; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135172333135172333135172333-
NM_015046.7(SETX):c.5859A>G (p.Pro1953=)23064SETXLikely benign1423165535RCV001062624; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351723641351723649:g.135172364T>C-
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)23064SETXConflicting interpretations of pathogenicity-1RCV002469835|RCV002569368; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135172365135172365NC_000009.11:g.135172365G>A-
NM_015046.7(SETX):c.5853C>G (p.His1951Gln)23064SETXUncertain significance928020122RCV001923046|RCV002359412|RCV003234135|RCV003234136; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135172370135172370135172370-
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)23064SETXConflicting interpretations of pathogenicity146593865RCV001288412|RCV002542992; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135172371135172371135172371-
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)23064SETXUncertain significance-1RCV003107133; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135172371135172371NC_000009.11:g.135172371T>A-
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)23064SETXConflicting interpretations of pathogenicity762267386RCV001171884|RCV002559645|RCV002355133; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391351723811351723819:g.135172381T>C-
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)23064SETXUncertain significance141440621RCV001095430|RCV001211387|RCV003233947; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351723841351723849:g.135172384C>T-
NM_015046.7(SETX):c.5835A>G (p.Ala1945=)23064SETXLikely benign1298267771RCV001034265; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351723881351723889:g.135172388T>C-
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val)23064SETXUncertain significance1009296937RCV001764938|RCV002359231|RCV003234099|RCV003234100; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135172389135172389135172389-
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)23064SETXPathogenic/Likely pathogenic797045067RCV000191126|RCV001795311; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C00077899135172393135172402NC_000009.11:g.135172398_135172407delClinGen:CA276162
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)23064SETXConflicting interpretations of pathogenicity773379832RCV000995873|RCV001093196|RCV001095488; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MedGen:CN16937491351723981351723989:g.135172398A>G-
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)23064SETXUncertain significance-1RCV002659669; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135172399135172399NC_000009.11:g.135172399T>C-
NM_015046.7(SETX):c.5814A>G (p.Gln1938=)23064SETXLikely benign143868969RCV001404682; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351724091351724099:g.135172409T>C-
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)23064SETXBenign2296869RCV000081700|RCV000312972|RCV000407219|RCV000713223|RCV001512046; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891351724121351724129:g.135172412A>GClinGen:CA148727CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr)23064SETXUncertain significance1844713785RCV001330596; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135172412135172414135172412-
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)23064SETXUncertain significance1844714133RCV001165668|RCV001165669; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351724141351724149:g.135172414C>A-
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)23064SETXConflicting interpretations of pathogenicity762791927RCV000518592|RCV002525079; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135172419135172419NC_000009.11:g.135172419T>CClinGen:CA5296892CN169374 not specified;
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)23064SETXUncertain significance1443102808RCV001040203; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351724201351724209:g.135172420T>C-
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)23064SETXConflicting interpretations of pathogenicity200571606RCV001165670|RCV001165671|RCV002355130; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C095012391351724371351724379:g.135172437G>A-
NM_015046.7(SETX):c.5782-6A>G23064SETXLikely benign781129157RCV002068684; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351724471351724479:g.135172447T>C-
NM_015046.7(SETX):c.5781+12dup23064SETXBenign3831154RCV000081699|RCV000278002|RCV001596953|RCV001844032|RCV002055211|RCV003233104; NMedGen:CN169374|MedGen:CN239175|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00191351734541351734559:g.135173454_135173455insAClinGen:CA148726CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.5781+10G>A23064SETXBenign537414669RCV000559235|RCV001288411|RCV003233727|RCV003233728; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135173457135173457NC_000009.11:g.135173457C>TClinGen:CA5296903C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5781+9T>C23064SETXBenign/Likely benign772671321RCV001663597|RCV002073096|RCV003234094|RCV003234093; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135173458135173458135173458-
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala)23064SETXUncertain significance372993859RCV000644830; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351734811351734819:g.135173481T>CClinGen:CA5296907C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro)23064SETXUncertain significance1844774142RCV001209437; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351734871351734879:g.135173487T>G-
NM_015046.7(SETX):c.5719C>T (p.Leu1907=)23064SETXLikely benign767373911RCV001481348; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135173529135173529135173529-
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)23064SETXBenign/Likely benign750372437RCV000992946|RCV002549819|RCV003233903|RCV003233902; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091351735361351735369:g.135173536T>C-
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)23064SETXUncertain significance765849036RCV001165672|RCV001167262; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351735511351735519:g.135173551C>T-
NM_015046.7(SETX):c.5661A>G (p.Gln1887=)23064SETXUncertain significance1589671916RCV001919822; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135173587135173587135173587-
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)23064SETXUncertain significance-1RCV002781191; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135173610135173610NC_000009.11:g.135173610T>C-
NM_015046.7(SETX):c.5637A>T (p.Val1879=)23064SETXLikely benign2131295454RCV001490653; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135173611135173611135173611-
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)23064SETXLikely benign-1RCV002700136; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135173621135173621NC_000009.11:g.135173621T>C-
NM_015046.7(SETX):c.5616C>T (p.Asn1872=)23064SETXLikely benign201472554RCV001409052; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351736321351736329:g.135173632G>A-
NM_015046.7(SETX):c.5604G>A (p.Pro1868=)23064SETXLikely benign373607369RCV002116901; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135173644135173644135173644-
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu)23064SETXUncertain significance370368422RCV002261879|RCV002346561|RCV003234172|RCV003234173; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135173645135173645135173645-
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)23064SETXPathogenic/Likely pathogenic776470487RCV000517704|RCV002350142|RCV003233691; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135173656135173657NC_000009.11:g.135173656_135173657delClinGen:CA5296938
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)23064SETXConflicting interpretations of pathogenicity375747001RCV000713222|RCV001644780|RCV002532951; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135173657135173657NC_000009.11:g.135173657T>G-
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser)23064SETXUncertain significance747493129RCV001242384; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351736751351736759:g.135173675T>G-
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)23064SETXBenign2296871RCV000081698|RCV000316637|RCV000355097|RCV000713221|RCV001512047; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891351736851351736859:g.135173685T>CClinGen:CA148723,UniProtKB:Q7Z333#VAR_018789CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg)23064SETXBenign377620145RCV001929169; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135173691135173691135173691-
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)23064SETXUncertain significance137978070RCV001228638|RCV001509373|RCV003234005|RCV003234006; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351736961351736969:g.135173696C>T-
NM_015046.7(SETX):c.5549-5G>A23064SETXConflicting interpretations of pathogenicity-1RCV002474453|RCV002574698; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135173704135173704NC_000009.11:g.135173704C>T-
NM_015046.7(SETX):c.5548+19A>G23064SETXBenign201294921RCV002125089; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135175998135175998135175998-
NM_015046.7(SETX):c.5548+17G>A23064SETXLikely benign1313333580RCV002209954; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135176000135176000135176000-
NM_015046.7(SETX):c.5538C>G (p.Arg1846=)23064SETXLikely benign-1RCV002574856; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135176027135176027-
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)23064SETXUncertain significance373571937RCV000518525|RCV002350141|RCV003233689|RCV003233690; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351760281351760289:g.135176028C>TClinGen:CA5296962CN169374 not specified;
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)23064SETXBenign/Likely benign551406712RCV000876813|RCV001288409|RCV002346031|RCV003233881|RCV003233882; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291351760291351760299:g.135176029G>A-
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)23064SETXBenign/Likely benign200433173RCV000992945|RCV002549818|RCV003233900|RCV003233901; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351760301351760309:g.135176030G>A-
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr)23064SETXUncertain significance749395151RCV001167263|RCV001167264; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351760561351760569:g.135176056G>A-
NM_015046.7(SETX):c.5505A>G (p.Glu1835=)23064SETXLikely benign2131305953RCV002172948; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135176060135176060135176060-
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)23064SETXUncertain significance143133190RCV001060795|RCV002348441|RCV002473187|RCV003233942|RCV003233943; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291351760621351760629:g.135176062C>T-
NM_015046.7(SETX):c.5502C>T (p.His1834=)23064SETXLikely benign117410554RCV002129029; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135176063135176063135176063-
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)23064SETXUncertain significance770822383RCV000517645|RCV001246159|RCV002350140|RCV003233687|RCV003233688; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291351760641351760649:g.135176064T>CClinGen:CA5296972CN169374 not specified;
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu)23064SETXUncertain significance2131306081RCV001985678; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135176074135176074135176074-
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)23064SETXConflicting interpretations of pathogenicity151046729RCV000821447|RCV000992944|RCV001167265|RCV001167266|RCV002345897; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091351760921351760929:g.135176092T>C-
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu)23064SETXBenign1249423284RCV000644831; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351761011351761019:g.135176101T>CClinGen:CA375348024C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)23064SETXConflicting interpretations of pathogenicity-1RCV002917557|RCV003167901; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135176122135176122NC_000009.11:g.135176122G>C-
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile)23064SETXUncertain significance763771426RCV001906633; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135176131135176131135176131-
NM_015046.7(SETX):c.5431G>A (p.Val1811Met)23064SETXUncertain significance947336270RCV000792447; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351761341351761349:g.135176134C>T-
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)23064SETXUncertain significance762071010RCV001167850|RCV001167267|RCV001288408; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN51720291351761621351761629:g.135176162T>G-
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)23064SETXLikely benign-1RCV002928183|RCV003434525; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C36619009135176165135176165-
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)23064SETXBenign-1RCV002654839; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135176167135176167NC_000009.11:g.135176167C>T-
NM_015046.7(SETX):c.5375-9G>C23064SETXLikely benign1239409311RCV000983608; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351761991351761999:g.135176199C>G-
NM_015046.7(SETX):c.5375-18CTT[2]23064SETXBenign/Likely benign201317659RCV000546960|RCV001080348|RCV001727748|RCV001848954|RCV003233725|RCV003233726; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C18591351762001351762029:g.135176200_135176202delClinGen:CA5296983C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5374+20A>G23064SETXLikely benign-1RCV002785680; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135187124135187124NC_000009.11:g.135187124T>C-
NM_015046.7(SETX):c.5374+16C>T23064SETXBenign2296872RCV000081697|RCV001610377|RCV002055210|RCV003233103|RCV003233102; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1891351871281351871289:g.135187128G>AClinGen:CA148722CN169374 not specified;
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)23064SETXUncertain significance-1RCV002923432; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135187156135187156NC_000009.11:g.135187156A>G-
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=)23064SETXLikely benign777886975RCV001413650; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135187157135187157135187157-
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)23064SETXBenign/Likely benign115071007RCV000875992|RCV001847102|RCV003233875|RCV003233876; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|91351871721351871729:g.135187172G>A-
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)23064SETXUncertain significance-1RCV002303626; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135187179135187179135187179-
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)23064SETXPathogenic/Likely pathogenic1169623576RCV001797866; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135187186135187186135187186-
NM_015046.7(SETX):c.5322G>T (p.Gln1774His)23064SETXConflicting interpretations of pathogenicity771691157RCV000512696|RCV002527420; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391351871961351871969:g.135187196C>AClinGen:CA5297016CN517202 not provided;
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)23064SETXUncertain significance886063552RCV000262186|RCV000319663; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135187203135187203NC_000009.11:g.135187203A>GClinGen:CA10632914CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)23064SETXPathogenic/Likely pathogenic750959420RCV000516701|RCV000664235|RCV000850075|RCV001260555|RCV001814179|RCV002527525; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|Human Phenotype Ontology:HP:0001251,Human Phenotype Ontology:HP:0001253,Human Phenotype Ontology:HP:0002513,Human Phenotype Ontology:HP:0007050,Human Phenotype Ontology:HP:009135187207135187210NC_000009.11:g.135187208CT[1]ClinGen:CA5297018CN517202 not provided;
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)23064SETXUncertain significance-1RCV002303407; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135187209135187209135187209-
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)23064SETXConflicting interpretations of pathogenicity766799310RCV001940484|RCV003339824; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135187216135187216135187216-
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)23064SETXConflicting interpretations of pathogenicity139063885RCV000284631|RCV000376752|RCV001080441|RCV001643106|RCV001848725|RCV003422370; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135187235135187235NC_000009.11:g.135187235T>CClinGen:CA5297024C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)23064SETXUncertain significance758411198RCV001067682|RCV002348469|RCV003233946|RCV003233945; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853791351872391351872399:g.135187239G>A-
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)23064SETXUncertain significance764316153RCV000992941|RCV001858763|RCV003233898|RCV003233899; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391351872401351872409:g.135187240C>T-
NM_015046.7(SETX):c.5276del (p.Val1759fs)23064SETXLikely pathogenic-1RCV003337854; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135187242135187242-
NM_015046.7(SETX):c.5275-14del23064SETXBenign761232500RCV002136829; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135187257135187257135187256-
NM_015046.7(SETX):c.5275-43T>C23064SETXBenign/Likely benign144258500RCV001262696|RCV001547405|RCV003234017; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391351872861351872869:g.135187286A>G-
NC_000009.11:g.(?_135201691)_(135210134_?)del23064SETXPathogenic-1RCV001963176; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135201691135210134-1-
NM_015046.7(SETX):c.5274+8T>C23064SETXLikely benign369501754RCV001445251; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352017031352017039:g.135201703A>G-
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)23064SETXConflicting interpretations of pathogenicity200499115RCV001167852|RCV001167851|RCV001664719|RCV001700982|RCV001847184|RCV001486121; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C18691352017141352017149:g.135201714T>C-
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)23064SETXUncertain significance762175796RCV001167853|RCV001169725|RCV003336308; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352017181352017189:g.135201718A>T-
NM_015046.7(SETX):c.5264del (p.Thr1755fs)23064SETXPathogenic776632212RCV000694115; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135201721135201721NC_000009.11:g.135201721del-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)23064SETXUncertain significance1846757741RCV001049997; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352017741352017749:g.135201774A>C-
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)23064SETXUncertain significance752646721RCV000498384|RCV001851384|RCV002252142|RCV003233653|RCV003233654; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602439135201782135201782NC_000009.11:g.135201782C>TClinGen:CA5297055
NM_015046.7(SETX):c.5199G>A (p.Val1733=)23064SETXLikely benign-1RCV002858700; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135201786135201786-
NM_015046.7(SETX):c.5196T>C (p.Pro1732=)23064SETXLikely benign-1RCV003087643; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135201789135201789-
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)23064SETXUncertain significance770527045RCV001938770|RCV003434361; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135201814135201814135201814-
NM_015046.7(SETX):c.5160G>T (p.Gly1720=)23064SETXLikely benign763408913RCV001495968; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135201825135201825135201825-
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)23064SETXUncertain significance-1RCV003054778; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135201826135201826NC_000009.11:g.135201826C>G-
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)23064SETXLikely benign-1RCV002659709; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135201837135201837-
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=)23064SETXLikely benign768582274RCV001495240; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352018551352018559:g.135201855A>G-
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)23064SETXConflicting interpretations of pathogenicity61745659RCV000697571|RCV002334333; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135201881135201881NC_000009.11:g.135201881C>T-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.5097C>T (p.Asp1699=)23064SETXLikely benign1163054039RCV001485246; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135201888135201888135201888-
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)23064SETXPathogenic/Likely pathogenic1589734405RCV000992940|RCV002549816|RCV003233897; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352019021352019029:g.135201902G>A-
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)23064SETXConflicting interpretations of pathogenicity756770572RCV001067074|RCV001288406|RCV003396712; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|91352019141352019149:g.135201914G>T-
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)23064SETXConflicting interpretations of pathogenicity140116005RCV000757760|RCV001047649|RCV001849091|RCV002343608; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C09501239135201934135201934NC_000009.11:g.135201934G>C-
NM_015046.7(SETX):c.5024del (p.Pro1675fs)23064SETXUncertain significance1554820021RCV000625915; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352019611352019619:g.135201961_135201961delClinGen:CA658797314C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp)23064SETXLikely benign775112319RCV002085215; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135201973135201973135201973-
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)23064SETXBenign-1RCV002606192; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135201974135201974NC_000009.11:g.135201974C>T-
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys)23064SETXUncertain significance762808367RCV002025372; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135201977135201977135201977-
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)23064SETXBenign-1RCV002952976; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135201982135201982NC_000009.11:g.135201982T>C-
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)23064SETXConflicting interpretations of pathogenicity185338915RCV001169726|RCV001169727; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352019961352019969:g.135201996A>T-
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)23064SETXConflicting interpretations of pathogenicity146873848RCV000558440|RCV000859806|RCV001644653|RCV001848953|RCV002341378; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C09501239135202003135202003NC_000009.11:g.135202003G>CClinGen:CA5297098C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)23064SETXUncertain significance371894414RCV000644814|RCV001849022|RCV002334141|RCV002473088|RCV003233771|RCV003233772; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0018999135202006135202006NC_000009.11:g.135202006T>CClinGen:CA5297100C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)23064SETXUncertain significance-1RCV003093700; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202013135202013NC_000009.11:g.135202013C>T-
NM_015046.7(SETX):c.4971T>C (p.Asn1657=)23064SETXLikely benign1159266524RCV002162908; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202014135202014135202014-
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)23064SETXConflicting interpretations of pathogenicity567825753RCV001899854|RCV002334755; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135202015135202015135202015-
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro)23064SETXLikely benign142509544RCV002035771; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202022135202022135202022-
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)23064SETXUncertain significance-1RCV003007958|RCV003234216; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN5172029135202038135202061NC_000009.11:g.135202046_135202069del-
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)23064SETXUncertain significance-1RCV003089765; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202040135202040NC_000009.11:g.135202040C>A-
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)23064SETXUncertain significance-1RCV002342644|RCV003096534|RCV003234182|RCV003234183; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135202051135202051135202051-
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs)23064SETXPathogenic2131428041RCV001807896; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202053135202054135202052-
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)23064SETXConflicting interpretations of pathogenicity375942182RCV000323303|RCV000380301|RCV002524587; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202061135202061NC_000009.11:g.135202061G>TClinGen:CA5297106CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg)23064SETXUncertain significance150918808RCV002017883; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202069135202069135202069-
NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro)23064SETXConflicting interpretations of pathogenicity150918808RCV002106306|RCV002337330; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135202069135202069135202069-
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)23064SETXConflicting interpretations of pathogenicity368931174RCV000795164|RCV002334477|RCV002272358|RCV002290435; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352020791352020799:g.135202079T>C-
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)23064SETXUncertain significance1466879487RCV000545900; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202082135202082NC_000009.11:g.135202082A>TClinGen:CA375323447C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)23064SETXBenign-1RCV003053337; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202086135202086-
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)23064SETXUncertain significance1022473091RCV000513047|RCV002524974|RCV003233658|RCV003233659; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352020871352020879:g.135202087G>AClinGen:CA200806533CN517202 not provided;
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)23064SETXPathogenic-1RCV003072642; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202094135202095NC_000009.11:g.135202098dup-
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu)23064SETXUncertain significance1362908917RCV001998539; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202100135202100135202100-
NM_015046.7(SETX):c.4872A>G (p.Leu1624=)23064SETXLikely benign567475841RCV002540147; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352021131352021139:g.135202113T>C-
NM_015046.7(SETX):c.4866G>A (p.Pro1622=)23064SETXLikely benign779472573RCV000533618|RCV002341377|RCV003233723|RCV003233724|RCV003403307; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135202119135202119NC_000009.11:g.135202119C>TClinGen:CA5297120C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)23064SETXUncertain significance140781535RCV000518382|RCV000764811|RCV001579382|RCV002341213|RCV003233685|RCV003233686; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MO91352021201352021209:g.135202120G>AClinGen:CA5297121CN169374 not specified;
NM_015046.7(SETX):c.4860T>G (p.Leu1620=)23064SETXLikely benign758938142RCV001446567; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202125135202125135202125-
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)23064SETXPathogenic553512431RCV001095774; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352021321352021329:g.135202132G>C-
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)23064SETXUncertain significance-1RCV002907905; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202138135202138NC_000009.11:g.135202138G>A-
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)23064SETXConflicting interpretations of pathogenicity749891883RCV000696941|RCV002334326|RCV002473117; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN51720291352021571352021579:g.135202157G>A-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)23064SETXPathogenic759213174RCV000364271|RCV002518808|RCV003233534; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352021691352021699:g.135202169G>AClinGen:CA5297136CN517202 not provided;
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)23064SETXUncertain significance916634082RCV000552942; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202226135202226NC_000009.11:g.135202226G>AClinGen:CA200806694C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu)23064SETXUncertain significance1165229035RCV000694003; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202228135202228NC_000009.11:g.135202228G>A-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)23064SETXBenign/Likely benign151237267RCV000253267|RCV000288368|RCV000345636|RCV000713217|RCV001084160|RCV001848034|RCV002338805; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C18691352022301352022309:g.135202230A>CClinGen:CA5297140C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser)23064SETXUncertain significance1846817047RCV001213556; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352022321352022329:g.135202232G>A-
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys)23064SETXUncertain significance752179261RCV001339479; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202247135202247135202247-
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr)23064SETXUncertain significance781383567RCV002013538; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202262135202262135202262-
NM_015046.7(SETX):c.4707T>C (p.Ser1569=)23064SETXLikely benign769964668RCV000555532|RCV002330912|RCV003233722|RCV003233721; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853791352022781352022789:g.135202278A>GClinGen:CA5297146C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)23064SETXUncertain significance771969117RCV001913304|RCV003434346; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135202300135202300135202300-
NM_015046.7(SETX):c.4683G>C (p.Gln1561His)23064SETXLikely benign772991134RCV000644811; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352023021352023029:g.135202302C>GClinGen:CA5297150C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)23064SETXPathogenic746973259RCV001219301; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352023051352023069:g.135202305_135202306insT-
NM_015046.7(SETX):c.4677A>G (p.Lys1559=)23064SETXBenign/Likely benign200123129RCV000644852|RCV000713216|RCV002334142|RCV003233789|RCV003233790; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011229135202308135202308NC_000009.11:g.135202308T>CClinGen:CA5297153C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu)23064SETXBenign776238150RCV001939927; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202310135202310135202310-
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)23064SETXConflicting interpretations of pathogenicity764920626RCV000713215|RCV001165734|RCV001169728|RCV001861986|RCV001849076; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135202313135202313NC_000009.11:g.135202313T>C-
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)23064SETXUncertain significance1554820196RCV000538383; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352023151352023159:g.135202315G>CClinGen:CA375325197C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val)23064SETXUncertain significance558075773RCV000693224; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352023221352023229:g.135202322G>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)23064SETXBenign/Likely benign112089123RCV000249296|RCV000291226|RCV000402230|RCV000757758|RCV001082247|RCV001848033; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1869135202325135202325NC_000009.11:g.135202325A>CClinGen:CA5297159,UniProtKB:Q7Z333#VAR_071685C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser)23064SETXUncertain significance754357821RCV000731319|RCV002334410|RCV003233845|RCV003233846; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202354135202354NC_000009.11:g.135202354A>G-
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys)23064SETXUncertain significance2131431252RCV001893168; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202361135202361135202361-
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)23064SETXBenign/Likely benign-1RCV002342477|RCV003094792|RCV003234180|RCV003234181; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135202372135202372135202372-
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)23064SETXConflicting interpretations of pathogenicity147018359RCV000348389|RCV000400900|RCV000516243|RCV000644810|RCV002338959; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135202373135202373NC_000009.11:g.135202373G>AClinGen:CA5297167C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val)23064SETXUncertain significance1554820219RCV000554474; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202384135202384NC_000009.11:g.135202384T>AClinGen:CA375325572C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)23064SETXLikely benign-1RCV003061655; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202400135202400NC_000009.11:g.135202400C>T-
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)23064SETXBenign-1RCV002795247; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202403135202403NC_000009.11:g.135202403T>C-
NM_015046.7(SETX):c.4563A>G (p.Glu1521=)23064SETXLikely benign374149839RCV000542139|RCV002341376|RCV003233720|RCV003233719; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135202422135202422NC_000009.11:g.135202422T>CClinGen:CA5297177C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)23064SETXUncertain significance-1RCV003083788; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202438135202438NC_000009.11:g.135202438T>C-
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)23064SETXConflicting interpretations of pathogenicity138195434RCV001298212|RCV002341587; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135202465135202465135202465-
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)23064SETXUncertain significance199974622RCV001663594|RCV001882760|RCV002334641|RCV003234091|RCV003234092; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011229135202468135202468135202468-
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys)23064SETXUncertain significance199974622RCV001956993; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202468135202468135202468-
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)23064SETXConflicting interpretations of pathogenicity781275166RCV001165735|RCV001165736; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352024741352024749:g.135202474T>C-
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)23064SETXLikely benign-1RCV002976636; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202485135202485-
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr)23064SETXUncertain significance202047872RCV001351712; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202505135202505135202505-
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)23064SETXUncertain significance772466321RCV000822855; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352025261352025269:g.135202526A>T-
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)23064SETXUncertain significance-1RCV002948366; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202540135202540NC_000009.11:g.135202540T>C-
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)23064SETXConflicting interpretations of pathogenicity761119964RCV000525003|RCV003243185; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352025491352025499:g.135202549G>AClinGen:CA5297200C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)23064SETXConflicting interpretations of pathogenicity143661911RCV000518326|RCV000550269|RCV001165737|RCV001167321|RCV001644615|RCV001848902|RCV002329225|RCV003431059; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352025521352025529:g.135202552G>TClinGen:CA5297202C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)23064SETXConflicting interpretations of pathogenicity759545112RCV001288405|RCV002327624|RCV002537972; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202553135202553135202553-
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)23064SETXConflicting interpretations of pathogenicity376678876RCV001509375|RCV001847286|RCV002564285; NMedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202562135202562135202562-
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)23064SETXUncertain significance781185115RCV000992939|RCV002327219|RCV003233896|RCV003233895; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352025681352025689:g.135202568G>A-
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)23064SETXConflicting interpretations of pathogenicity756080695RCV000999254|RCV002550734; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352025951352025959:g.135202595G>A-
NM_015046.7(SETX):c.4386A>G (p.Glu1462=)23064SETXLikely benign1554820336RCV000644842|RCV002331197|RCV003233782|RCV003233781; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135202599135202599NC_000009.11:g.135202599T>CClinGen:CA467806362C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)23064SETXUncertain significance-1RCV002670844; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202612135202612NC_000009.11:g.135202612A>G-
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)23064SETXUncertain significance747804357RCV000703290|RCV003140115; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN5172029135202616135202616NC_000009.11:g.135202616T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4353A>G (p.Val1451=)23064SETXLikely benign771367273RCV000875490; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352026321352026329:g.135202632T>C-
NM_015046.7(SETX):c.4338G>A (p.Val1446=)23064SETXLikely benign777058489RCV001428204; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202647135202647135202647-
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)23064SETXUncertain significance1477696040RCV001754526|RCV002540237|RCV003234101|RCV003234102; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135202649135202649135202649-
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala)23064SETXLikely benign759653127RCV001899548; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202651135202651135202651-
NM_015046.7(SETX):c.4323G>A (p.Gln1441=)23064SETXLikely benign180992608RCV001438996; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202662135202662135202662-
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)23064SETXUncertain significance1589737441RCV000992938|RCV001038162|RCV003233894|RCV003233893; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352026691352026699:g.135202669A>G-
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)23064SETXUncertain significance1038733632RCV001945664|RCV002331460|RCV003234140|RCV003234139|RCV003434358; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135202688135202688135202688-
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)23064SETXUncertain significance371541705RCV001752398|RCV002329733|RCV002540427|RCV003234112|RCV003401690|RCV003234111; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043||MONDO:MONDO:00189135202694135202694135202694-
NM_015046.7(SETX):c.4283A>G (p.His1428Arg)23064SETXLikely benign778236359RCV001327470; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202702135202702135202702-
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg)23064SETXUncertain significance778111855RCV000813470; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352027231352027239:g.135202723G>C-
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)23064SETXConflicting interpretations of pathogenicity373375060RCV000143816|RCV000790204|RCV000988270|RCV001002069|RCV001041860|RCV001167322|RCV002326848|RCV003415971; NMedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1869135202760135202760NC_000009.11:g.135202760T>AClinGen:CA233099CN517202 not provided;
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)23064SETXBenign-1RCV002761651; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202763135202763NC_000009.11:g.135202763T>C-
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)23064SETXBenign/Likely benign150421712RCV000313278|RCV000370263|RCV001662352|RCV001509824; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135202781135202781NC_000009.11:g.135202781T>AClinGen:CA5297247CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)23064SETXConflicting interpretations of pathogenicity148078248RCV000542207|RCV001085153|RCV001167323|RCV001167324|RCV002330911|RCV003403306; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352027881352027889:g.135202788T>CClinGen:CA5297250C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)23064SETXUncertain significance-1RCV002786160; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202798135202798NC_000009.11:g.135202798T>C-
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)23064SETXUncertain significance780078856RCV000992937|RCV001204397|RCV003233892|RCV003233891; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352028051352028059:g.135202805A>G-
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)23064SETXBenign543573RCV000081696|RCV000298134|RCV000391406|RCV000713212|RCV001522460; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891352028291352028299:g.135202829T>CClinGen:CA148719,UniProtKB:Q7Z333#VAR_018787CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)23064SETXUncertain significance-1RCV002996593; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202840135202840NC_000009.11:g.135202840T>C-
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)23064SETXConflicting interpretations of pathogenicity181158146RCV001794763|RCV002541275; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202849135202849135202849-
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu)23064SETXConflicting interpretations of pathogenicity756823072RCV000516516|RCV002527524; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352028651352028659:g.135202865T>CClinGen:CA5297266CN169374 not specified;
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)23064SETXUncertain significance1564539457RCV000686213|RCV001766462|RCV002325358|RCV003233813|RCV003233814; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011229135202871135202871NC_000009.11:g.135202871C>G-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4113A>G (p.Thr1371=)23064SETXLikely benign750697305RCV000525365|RCV002323995|RCV003233718|RCV003233717; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135202872135202872NC_000009.11:g.135202872T>CClinGen:CA5297268C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)23064SETXConflicting interpretations of pathogenicity1445388214RCV000689471|RCV002473107|RCV003403596; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|9135202882135202882NC_000009.11:g.135202882C>A-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)23064SETXConflicting interpretations of pathogenicity140147684RCV000549234|RCV001167928|RCV001288399|RCV001167927|RCV002323994; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352028891352028899:g.135202889A>GClinGen:CA5297271C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)23064SETXUncertain significance-1RCV002663959; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202892135202892NC_000009.11:g.135202892G>A-
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)23064SETXPathogenic121434376RCV000002374|RCV000622386|RCV002247241; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN51720291352028981352028989:g.135202898G>AClinGen:CA252172,OMIM:608465.0001C0950123 Inborn genetic diseases;
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)23064SETXLikely benign-1RCV003045584; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202914135202914-
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)23064SETXConflicting interpretations of pathogenicity886063553RCV000263119|RCV000355651|RCV002323569; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135202932135202932NC_000009.11:g.135202932T>CClinGen:CA10629234CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu)23064SETXLikely benign375241191RCV000536880; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202934135202934NC_000009.11:g.135202934G>CClinGen:CA5297277C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)23064SETXUncertain significance146407699RCV000518088|RCV000644816|RCV003233683|RCV003233684; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352029401352029409:g.135202940G>CClinGen:CA200807527C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)23064SETXUncertain significance-1RCV002795854; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202954135202954NC_000009.11:g.135202954G>C-
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)23064SETXConflicting interpretations of pathogenicity769558791RCV000992936|RCV001858762|RCV002354901; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352029631352029659:g.135202963_135202965del-
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)23064SETXConflicting interpretations of pathogenicity368323660RCV000320579|RCV000358967|RCV000807443|RCV002356498; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202965135202965NC_000009.11:g.135202965C>AClinGen:CA5297284CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)23064SETXUncertain significance-1RCV002571845; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202991135202993NC_000009.11:g.135202991GAG[1]-
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)23064SETXBenign/Likely benign11243731RCV000266813|RCV000324299|RCV000874493|RCV002356499; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202993135202993NC_000009.11:g.135202993G>AClinGen:CA5297290,UniProtKB:Q7Z333#VAR_018786CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)23064SETXBenign-1RCV003084953; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135202994135202994NC_000009.11:g.135202994G>A-
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)23064SETXUncertain significance-1RCV002604514; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135202996135202996NC_000009.11:g.135202996G>A-
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)23064SETXUncertain significance369542231RCV000143815|RCV000517014|RCV002371981|RCV003233112|RCV003233113|RCV003415970; NMedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|91352030171352030179:g.135203017C>TClinGen:CA233096CN517202 not provided;
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)23064SETXConflicting interpretations of pathogenicity144900653RCV000713211|RCV001210286|RCV001849075|RCV002369984; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C09501239135203020135203020NC_000009.11:g.135203020G>T-
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)23064SETXUncertain significance771168824RCV000809266; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352030301352030309:g.135203030C>T-
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)23064SETXUncertain significance1564539968RCV000700419|RCV002307600|RCV003233824|RCV003233825; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135203035135203035NC_000009.11:g.135203035A>G-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)23064SETXLikely benign-1RCV002975197; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203040135203040-
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)23064SETXLikely benign-1RCV003090092; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203043135203043-
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)23064SETXUncertain significance773999398RCV001967718|RCV003136348; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C36619009135203054135203054135203054-
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)23064SETXConflicting interpretations of pathogenicity886063554RCV000289144|RCV000381150|RCV002356500|RCV002472997; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN5172029135203085135203085NC_000009.11:g.135203085G>AClinGen:CA10629236CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)23064SETXLikely benign-1RCV003058944|RCV003076256|RCV003234220|RCV003234219; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135203095135203095NC_000009.11:g.135203095T>A-
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)23064SETXConflicting interpretations of pathogenicity-1RCV003118242|RCV003140245; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135203104135203104NC_000009.11:g.135203104C>T-
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)23064SETXConflicting interpretations of pathogenicity148604312RCV000515884|RCV000560688|RCV000859602|RCV001169791|RCV001169792|RCV002356794; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:60600291352031591352031599:g.135203159G>CClinGen:CA5297318C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)23064SETXLikely benign760272692RCV000699331; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203162135203162NC_000009.11:g.135203162G>A-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg)23064SETXConflicting interpretations of pathogenicity202204341RCV001889286|RCV002361171; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135203170135203170135203170-
NM_015046.7(SETX):c.3813A>G (p.Pro1271=)23064SETXLikely benign759945253RCV001455496|RCV002358541|RCV003233715|RCV003233716; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18654091352031721352031729:g.135203172T>CClinGen:CA5297324C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3810G>A (p.Pro1270=)23064SETXLikely benign753022992RCV001493109|RCV003399255; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN1693749135203175135203175135203175-
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)23064SETXConflicting interpretations of pathogenicity144334281RCV000329054|RCV000385882|RCV000644851|RCV001084313|RCV002356315; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352031761352031769:g.135203176G>AClinVar:157525,ClinGen:CA048312C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val)23064SETXUncertain significance764516725RCV000685943; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203183135203183NC_000009.11:g.135203183T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del)23064SETXUncertain significance2131439346RCV002023776; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203187135203189135203186-
NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala)23064SETXLikely benign956812554RCV001938713; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203192135203192135203192-
NM_015046.7(SETX):c.3780A>G (p.Leu1260=)23064SETXLikely benign375854407RCV002095739; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203205135203205135203205-
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu)23064SETXUncertain significance773081186RCV002024777; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203215135203215135203215-
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)23064SETXBenign1183768RCV000081695|RCV000351274|RCV000713210|RCV000988271|RCV001522461; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891352032311352032319:g.135203231C>TClinGen:CA148716,UniProtKB:Q7Z333#VAR_018785CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3737A>C (p.His1246Pro)23064SETXUncertain significance2131440106RCV001879572; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203248135203248135203248-
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)23064SETXUncertain significance1467137301RCV000534859; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203257135203257NC_000009.11:g.135203257T>CClinGen:CA375328503C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3723C>A (p.Thr1241=)23064SETXLikely benign367828971RCV002111457; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203262135203262135203262-
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)23064SETXConflicting interpretations of pathogenicity-1RCV002625524|RCV003167474|RCV003443064; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MedGen:C36619009135203279135203279NC_000009.11:g.135203279C>T-
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)23064SETXUncertain significance-1RCV002776491; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203285135203285NC_000009.11:g.135203285T>C-
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)23064SETXPathogenic2131440608RCV002014627; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203304135203304135203304-
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe)23064SETXBenign750526955RCV001374095; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203305135203305135203305-
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe)23064SETXUncertain significance2131440671RCV001367973; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203309135203309135203309-
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)23064SETXUncertain significance-1RCV002834312; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203311135203311NC_000009.11:g.135203311T>A-
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)23064SETXBenign/Likely benign12344006RCV000558654|RCV001087347|RCV001165815|RCV001165814|RCV001700149; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352033221352033229:g.135203322C>GClinGen:CA5297350C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)23064SETXBenign/Likely benign111419285RCV000644838|RCV001085691|RCV002458084|RCV003233775|RCV003233776; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291352033341352033349:g.135203334C>AClinGen:CA5297354C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3651G>C (p.Thr1217=)23064SETXLikely benign111419285RCV000713209|RCV003233839|RCV002458335|RCV003233840; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203334135203334NC_000009.11:g.135203334C>G-
NM_015046.7(SETX):c.3651G>A (p.Thr1217=)23064SETXLikely benign111419285RCV000874776; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352033341352033349:g.135203334C>T-
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)23064SETXConflicting interpretations of pathogenicity140892948RCV000794210|RCV002458415; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352033351352033359:g.135203335G>A-
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala)23064SETXUncertain significance1846942479RCV001320742; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203336135203336135203336-
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)23064SETXConflicting interpretations of pathogenicity371687197RCV002012690|RCV002625345; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135203345135203345135203345-
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)23064SETXUncertain significance-1RCV003055243; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203365135203365NC_000009.11:g.135203365G>C-
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)23064SETXConflicting interpretations of pathogenicity-1RCV002571528|RCV002474457; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN5172029135203378135203378NC_000009.11:g.135203378T>C-
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)23064SETXUncertain significance138167195RCV002036086|RCV002454319|RCV003234165|RCV003234164; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C185379135203380135203380135203380-
NM_015046.7(SETX):c.3603T>C (p.Ile1201=)23064SETXLikely benign565774066RCV001417071; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352033821352033829:g.135203382A>G-
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)23064SETXUncertain significance149558692RCV001305121; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203396135203396135203396-
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)23064SETXConflicting interpretations of pathogenicity376381668RCV000992933|RCV001060744; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352033981352033989:g.135203398T>C-
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)23064SETXBenign1185193RCV000081694|RCV000278408|RCV000389540|RCV000713208|RCV001522462; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891352034091352034099:g.135203409A>CClinGen:CA148713,UniProtKB:Q7Z333#VAR_018784CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)23064SETXBenign35473230RCV001084588|RCV000713207|RCV001726287|RCV003233777|RCV003233778; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1869135203417135203417NC_000009.11:g.135203417T>CClinGen:CA5297373C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)23064SETXLikely benign-1RCV002780148; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203418135203418-
NM_015046.7(SETX):c.3555G>A (p.Gln1185=)23064SETXConflicting interpretations of pathogenicity762171056RCV001848120|RCV002077332; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203430135203430135203430-
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)23064SETXUncertain significance1846954116RCV001068747; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352034411352034419:g.135203441T>A-
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)23064SETXUncertain significance-1RCV002852782; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203448135203450NC_000009.11:g.135203448AGA[1]-
NM_015046.7(SETX):c.3525G>A (p.Arg1175=)23064SETXLikely benign1353053473RCV002540178; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352034601352034609:g.135203460C>T-
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala)23064SETXUncertain significance141996565RCV001346498; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203468135203468135203468-
NM_015046.7(SETX):c.3505A>G (p.Met1169Val)23064SETXConflicting interpretations of pathogenicity573849874RCV001371621|RCV002070244; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135203480135203480135203480-
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)23064SETXUncertain significance1554820858RCV000623279|RCV001093199|RCV003233763|RCV003233764; NMeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203488135203488NC_000009.11:g.135203488T>CClinGen:CA375330251C0950123 Inborn genetic diseases;
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)23064SETXUncertain significance748505684RCV000706730; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203516135203516NC_000009.11:g.135203516C>A-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)23064SETXUncertain significance1297541939RCV000644826; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352035231352035239:g.135203523T>GClinGen:CA375330395C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)23064SETXBenign3739922RCV000081693|RCV000335767|RCV000398565|RCV000576443|RCV001705760; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352035301352035309:g.135203530A>CClinGen:CA148710,UniProtKB:Q7Z333#VAR_018783C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3450A>G (p.Glu1150=)23064SETXLikely benign771495291RCV001497646; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352035351352035359:g.135203535T>C-
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)23064SETXBenign375796832RCV000817426; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352035521352035529:g.135203552G>A-
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)23064SETXBenign-1RCV002662820; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203556135203556NC_000009.11:g.135203556T>A-
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)23064SETXBenign-1RCV003069646; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203561135203561NC_000009.11:g.135203561T>C-
NM_015046.7(SETX):c.3422A>T (p.His1141Leu)23064SETXUncertain significance1554820904RCV000644834; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203563135203563NC_000009.11:g.135203563T>AClinGen:CA375330567C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)23064SETXLikely benign-1RCV002904432; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203568135203568NC_000009.11:g.135203568T>G-
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)23064SETXUncertain significance62576475RCV001579904|RCV001847306|RCV002458544|RCV003234084|RCV003234085; NMedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203575135203575135203575-
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)23064SETXUncertain significance778505279RCV001220091|RCV002451502|RCV003233999|RCV003234000; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18654091352036001352036009:g.135203600C>T-
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)23064SETXUncertain significance907569728RCV002043030|RCV002458989|RCV003234161|RCV003234162; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135203609135203609135203609-
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala)23064SETXUncertain significance866546546RCV001899166; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203615135203615135203615-
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp)23064SETXUncertain significance1278965355RCV001901656; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203626135203626135203626-
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp)23064SETXBenign200072123RCV001322116; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203630135203630135203630-
NM_015046.7(SETX):c.3351T>C (p.Thr1117=)23064SETXLikely benign1846972454RCV001423470; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203634135203634135203634-
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)23064SETXUncertain significance1564541749RCV000713206|RCV001212840|RCV003233837|RCV003233838; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135203635135203635NC_000009.11:g.135203635G>A-
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)23064SETXConflicting interpretations of pathogenicity142020270RCV000252372|RCV001085624|RCV001311796|RCV001848032|RCV002321932; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C09501239135203640135203640NC_000009.11:g.135203640G>CClinGen:CA5297423CN169374 not specified;
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)23064SETXConflicting interpretations of pathogenicity760535401RCV000688257|RCV002325367; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135203644135203644NC_000009.11:g.135203644A>G-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)23064SETXBenign/Likely benign150687078RCV000517155|RCV000873785|RCV001579572|RCV001848901|RCV002323882|RCV003233681|RCV003233682; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MO9135203649135203649NC_000009.11:g.135203649A>GClinGen:CA5297427CN169374 not specified;
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)23064SETXUncertain significance1564541841RCV000703662|RCV001333801|RCV003233828; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352036531352036539:g.135203653A>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)23064SETXConflicting interpretations of pathogenicity113831637RCV000300578|RCV000339216|RCV000518711|RCV001084428|RCV002450943; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135203675135203675NC_000009.11:g.135203675G>CClinGen:CA5297433CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser)23064SETXBenign545072717RCV001068336; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352036861352036869:g.135203686T>C-
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)23064SETXConflicting interpretations of pathogenicity545072717RCV001058491|RCV003425902; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C366190091352036861352036869:g.135203686T>G-
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)23064SETXUncertain significance1230355404RCV001772529|RCV003234107|RCV002544021|RCV003234108; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135203687135203687135203687-
NM_015046.7(SETX):c.3297T>C (p.Asp1099=)23064SETXLikely benign777404209RCV002200938; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203688135203688135203688-
NM_015046.7(SETX):c.3294C>T (p.Asp1098=)23064SETXLikely benign61732723RCV002092339; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203691135203691135203691-
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)23064SETXPathogenic-1RCV002889805; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203694135203697NC_000009.11:g.135203696_135203699del-
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)23064SETXUncertain significance-1RCV002631344; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203706135203706NC_000009.11:g.135203706C>A-
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe)23064SETXUncertain significance139559547RCV002026738; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203725135203725135203725-
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu)23064SETXPathogenic2131444517RCV001353342; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203738135203738135203738-
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser)23064SETXUncertain significance1564542121RCV001647240; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203743135203743135203743-
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)23064SETXConflicting interpretations of pathogenicity145097270RCV000515959|RCV000517650|RCV001082564|RCV001167391|RCV001168005|RCV001283502|RCV002446949|RCV003105922; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:60600291352037561352037569:g.135203756C>TClinGen:CA5297445C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly)23064SETXUncertain significance752140967RCV000516544|RCV002448561|RCV003233680|RCV003233679; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352037641352037649:g.135203764T>CClinGen:CA5297447CN169374 not specified;
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)23064SETXUncertain significance-1RCV003018253; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203770135203770NC_000009.11:g.135203770T>C-
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)23064SETXLikely benign145014082RCV000876380|RCV002064851|RCV003233877|RCV003233878; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352037751352037759:g.135203775A>G-
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val)23064SETXUncertain significance931570379RCV002049648|RCV003418355; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|9135203777135203777135203777-
NM_015046.7(SETX):c.3207T>A (p.Thr1069=)23064SETXLikely benign200585636RCV001562318|RCV002070389|RCV003234080|RCV003234079; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135203778135203778135203778-
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)23064SETXConflicting interpretations of pathogenicity374091487RCV000304137|RCV000393561|RCV001810866|RCV002323570|RCV002523743; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011229135203785135203785NC_000009.11:g.135203785G>AClinGen:CA5297452CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)23064SETXConflicting interpretations of pathogenicity-1RCV002322805|RCV003099274; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203798135203798135203798-
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)23064SETXBenign12352982RCV000713203|RCV001086411|RCV001168006|RCV001168007|RCV001700207|RCV001848952; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135203803135203803NC_000009.11:g.135203803G>AClinGen:CA5297454C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)23064SETXUncertain significance-1RCV002580385; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203804135203804NC_000009.11:g.135203804G>A-
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del)23064SETXLikely benign576141809RCV000545338|RCV002323993|RCV003233713|RCV003233714; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135203818135203823NC_000009.11:g.135203821_135203826delClinGen:CA5297458C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)23064SETXConflicting interpretations of pathogenicity-1RCV002320942|RCV003099247; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203824135203824135203824-
NM_015046.7(SETX):c.3147C>T (p.His1049=)23064SETXBenign3739921RCV000173867|RCV000268689|RCV000361004|RCV000713202|RCV001516019; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C18691352038381352038389:g.135203838G>AClinGen:CA200746CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)23064SETXConflicting interpretations of pathogenicity886063555RCV000307504|RCV000364537|RCV000518443|RCV001243853; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135203868135203868NC_000009.11:g.135203868T>CClinGen:CA10629238CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)23064SETXUncertain significance372529790RCV001754372|RCV002543933|RCV003234096|RCV003234097; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203870135203870135203870-
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)23064SETXBenign/Likely benign117229601RCV000273166|RCV000330552|RCV001509825|RCV001662353; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203882135203882NC_000009.11:g.135203882T>CClinGen:CA5297473CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.3099C>T (p.Leu1033=)23064SETXLikely benign755461440RCV002119409; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203886135203886135203886-
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn)23064SETXUncertain significance1846998334RCV002024757; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203889135203889135203889-
NM_015046.7(SETX):c.3090T>C (p.Leu1030=)23064SETXLikely benign368677513RCV000242019|RCV000878719|RCV002321931|RCV003233519|RCV003233518; NMedGen:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203895135203895NC_000009.11:g.135203895A>GClinGen:CA5297477CN169374 not specified;
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)23064SETXBenign/Likely benign572772837RCV000488124|RCV001080988|RCV001262694|RCV001662567|RCV002319535|RCV001848951|RCV003233712; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MO9135203910135203911NC_000009.11:g.135203911TCA[7]ClinGen:CA5297479C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)23064SETXConflicting interpretations of pathogenicity572772837RCV000517712|RCV000762581|RCV000791112|RCV001503652|RCV002319518; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135203911135203913NC_000009.11:g.135203911TCA[5]ClinGen:CA5297480
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)23064SETXUncertain significance572772837RCV000644820|RCV002286770|RCV002449037|RCV003233774|RCV003233773|RCV003330860; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018991352039111352039169:g.135203911_135203916delClinGen:CA5297481C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)23064SETXConflicting interpretations of pathogenicity749204574RCV000321789|RCV001222571|RCV002519195; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352039291352039299:g.135203929G>TClinGen:CA5297486CN169374 not specified;
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly)23064SETXUncertain significance768510428RCV000698718; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203932135203932NC_000009.11:g.135203932T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)23064SETXUncertain significance765663814RCV001768773|RCV002449412|RCV003234103|RCV003234104; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203937135203939135203936-
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr)23064SETXUncertain significance200856903RCV001260221|RCV002447240|RCV003234016|RCV003234015; NHuman Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352039381352039389:g.135203938A>G-
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)23064SETXUncertain significance761243379RCV000795770|RCV002442634|RCV002473139|RCV003233851|RCV003233852; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291352039451352039459:g.135203945T>C-
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)23064SETXUncertain significance-1RCV002756195; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203946135203948NC_000009.11:g.135203946_135203948del-
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile)23064SETXBenign773068299RCV001863960; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203948135203948135203948-
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)23064SETXConflicting interpretations of pathogenicity370781594RCV000521273|RCV001306845|RCV001662531|RCV002438262; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MeSH:D030342,MedGen:C09501239135203956135203956NC_000009.11:g.135203956C>TClinGen:CA5297494
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)23064SETXUncertain significance766799023RCV000516603|RCV001851461|RCV003233678|RCV003233677|RCV003409739; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135203957135203957NC_000009.11:g.135203957G>AClinGen:CA5297495CN169374 not specified;
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)23064SETXLikely benign-1RCV002833551; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203958135203958-
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)23064SETXBenign-1RCV002885491; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203959135203959NC_000009.11:g.135203959G>A-
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)23064SETXUncertain significance372021275RCV001644614|RCV002438248|RCV003233675|RCV003233676; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352039621352039629:g.135203962G>CClinGen:CA5297497CN169374 not specified;
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)23064SETXUncertain significance1847007637RCV001168776|RCV001168777; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352039641352039649:g.135203964A>T-
NM_015046.7(SETX):c.3018A>C (p.Gly1006=)23064SETXLikely benign997364371RCV001480025; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352039671352039679:g.135203967T>G-
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)23064SETXConflicting interpretations of pathogenicity141266068RCV000517441|RCV000644833|RCV001311797|RCV002438247; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MeSH:D030342,MedGen:C095012391352039691352039699:g.135203969C>TClinGen:CA5297499C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)23064SETXConflicting interpretations of pathogenicity77984885RCV000507293|RCV000552319|RCV001089104|RCV002438234; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352039751352039759:g.135203975T>CClinGen:CA5297500C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2994C>T (p.Phe998=)23064SETXLikely benign534579992RCV001445280; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135203991135203991135203991-
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)23064SETXLikely benign-1RCV002834779; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203995135203995NC_000009.11:g.135203995C>T-
NM_015046.7(SETX):c.2988A>G (p.Arg996=)23064SETXUncertain significance1358681495RCV001974687; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135203997135203997135203997-
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)23064SETXConflicting interpretations of pathogenicity1285317289RCV001811831|RCV001869470; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204000135204000135204000-
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)23064SETXBenign/Likely benign149546633RCV000874168|RCV001089117|RCV002434138|RCV003233871|RCV003233872; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291352040041352040049:g.135204004T>C-
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)23064SETXConflicting interpretations of pathogenicity61742937RCV000250229|RCV000387370|RCV000541126|RCV001168778|RCV001391479|RCV001706351|RCV001848031; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352040101352040109:g.135204010T>CClinGen:CA5297507,UniProtKB:Q7Z333#VAR_071684C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs)23064SETXPathogenic587776536RCV000002377; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352040141352040189:g.135204014_135204018delClinGen:CA252180,OMIM:608465.0004C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.2964A>G (p.Gln988=)23064SETXLikely benign-1RCV003009356; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204021135204021-
NM_015046.7(SETX):c.2958G>A (p.Gln986=)23064SETXLikely benign969060686RCV000644843|RCV002440310|RCV003233783|RCV003233784; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135204027135204027NC_000009.11:g.135204027C>TClinGen:CA200812013C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2955G>A (p.Ser985=)23064SETXLikely benign201251074RCV000946067|RCV001466657|RCV003233887|RCV003233886; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352040301352040309:g.135204030C>T-
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu)23064SETXLikely benign557074957RCV000877104; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352040311352040319:g.135204031G>A-
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)23064SETXUncertain significance138287942RCV001870813|RCV002282623|RCV002440950|RCV003234125|RCV003234126; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011229135204050135204050135204050-
NM_015046.7(SETX):c.2934C>T (p.Ser978=)23064SETXConflicting interpretations of pathogenicity144154512RCV001458668|RCV001165885|RCV001168779; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352040511352040519:g.135204051G>A-
NM_015046.7(SETX):c.2924C>T (p.Thr975Met)23064SETXBenign200722368RCV001058490; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352040611352040619:g.135204061G>A-
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)23064SETXConflicting interpretations of pathogenicity765768857RCV001367523|RCV003388005|RCV003246955; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C09501239135204064135204064135204064-
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly)23064SETXUncertain significance1354775471RCV001945943; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204071135204071135204071-
NM_015046.7(SETX):c.2907T>A (p.Ala969=)23064SETXBenign-1RCV003077500; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204078135204078-
NM_015046.7(SETX):c.2895A>G (p.Leu965=)23064SETXLikely benign-1RCV003089790; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204090135204090-
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)23064SETXConflicting interpretations of pathogenicity-1RCV002474448|RCV002569402; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204098135204098NC_000009.11:g.135204098G>A-
NM_015046.7(SETX):c.2865T>C (p.Asp955=)23064SETXLikely benign368932478RCV002199173; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204120135204120135204120-
NM_015046.7(SETX):c.2862G>A (p.Thr954=)23064SETXConflicting interpretations of pathogenicity149610510RCV000518240|RCV001857928|RCV002438246|RCV003431058; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MedGen:C366190091352041231352041239:g.135204123C>TClinGen:CA5297523CN169374 not specified;
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)23064SETXUncertain significance1375463032RCV000533100; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204131135204131NC_000009.11:g.135204131T>CClinGen:CA375333512C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)23064SETXUncertain significance1847020598RCV001236607|RCV002436925|RCV003234010|RCV003234011; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18654091352041361352041369:g.135204136G>T-
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)23064SETXUncertain significance778882347RCV000517506|RCV001755772|RCV003233673|RCV003233674; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352041431352041439:g.135204143G>TClinGen:CA375333570CN169374 not specified;
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser)23064SETXLikely benign778882347RCV002004266; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204143135204143135204143-
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)23064SETXUncertain significance770694223RCV001207270|RCV001706721|RCV003233992; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352041971352041979:g.135204197T>C-
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn)23064SETXUncertain significance1258279869RCV001315191; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204202135204202135204202-
NM_015046.7(SETX):c.2779A>G (p.Met927Val)23064SETXUncertain significance886063556RCV000276603|RCV000334257|RCV003441851; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135204206135204206NC_000009.11:g.135204206T>CClinGen:CA10632617CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)23064SETXUncertain significance-1RCV002775512; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204207135204209NC_000009.11:g.135204207CTC[1]-
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)23064SETXConflicting interpretations of pathogenicity561190371RCV000644837|RCV000992932|RCV001262697|RCV001270092|RCV002440309|RCV003317317; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352042301352042309:g.135204230C>GClinGen:CA5297536C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)23064SETXConflicting interpretations of pathogenicity376022544RCV000713201|RCV001042487|RCV002265868|RCV002440565|RCV003403647; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|9135204235135204235NC_000009.11:g.135204235A>G-
NM_015046.7(SETX):c.2749A>C (p.Met917Leu)23064SETXUncertain significance761943404RCV000644835; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352042361352042369:g.135204236T>GClinGen:CA5297539C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2730A>C (p.Ser910=)23064SETXLikely benign764898504RCV000644847|RCV002458085|RCV003233787|RCV003233788; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18654091352042551352042559:g.135204255T>GClinGen:CA5297543C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)23064SETXLikely benign-1RCV003109057; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204256135204256NC_000009.11:g.135204256G>A-
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)23064SETXConflicting interpretations of pathogenicity148375192RCV000552679|RCV001165886|RCV001165887|RCV002431641; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204268135204268NC_000009.11:g.135204268G>AClinGen:CA5297546C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)23064SETXUncertain significance1320466105RCV001165889|RCV001165888; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352042871352042879:g.135204287T>C-
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)23064SETXConflicting interpretations of pathogenicity370551247RCV002146250|RCV002252771|RCV002454541; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MeSH:D030342,MedGen:C09501239135204297135204297135204297-
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)23064SETXConflicting interpretations of pathogenicity148181729RCV000280363|RCV000372562|RCV000644850|RCV000789558|RCV001079301|RCV001848726; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0015362,MedGen:C5548212, Orphanet:140465|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:69135204313135204313NC_000009.11:g.135204313A>GClinGen:CA5297553C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2646C>T (p.Asn882=)23064SETXLikely benign-1RCV002726679; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204339135204339-
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)23064SETXUncertain significance-1RCV002982355; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204344135204344NC_000009.11:g.135204344C>T-
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu)23064SETXUncertain significance2131450530RCV001883194; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204350135204350135204350-
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)23064SETXUncertain significance-1RCV002891038; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204373135204373NC_000009.11:g.135204373T>C-
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter)23064SETXPathogenic121434377RCV000002375; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352043831352043839:g.135204383G>AClinGen:CA252175,OMIM:608465.0002C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)23064SETXConflicting interpretations of pathogenicity-1RCV002632119|RCV003156390; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN5172029135204394135204394NC_000009.11:g.135204394G>A-
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)23064SETXBenign-1RCV003073352; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204403135204403NC_000009.11:g.135204403T>C-
NM_015046.7(SETX):c.2552A>T (p.Asp851Val)23064SETXLikely benign375242350RCV001045087; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352044331352044339:g.135204433T>A-
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)23064SETXConflicting interpretations of pathogenicity567711722RCV001758833|RCV001847330|RCV002540424|RCV003416435|RCV003446904; NMedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043||MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602439135204442135204442135204442-
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg)23064SETXUncertain significance774820992RCV001898238; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204449135204449135204449-
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)23064SETXUncertain significance1847046317RCV001065429|RCV001167457|RCV001167458; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352044521352044529:g.135204452G>A-
NM_015046.7(SETX):c.2517C>T (p.His839=)23064SETXUncertain significance1464623855RCV001167459|RCV001167460; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352044681352044689:g.135204468G>A-
NM_015046.7(SETX):c.2516A>T (p.His839Leu)23064SETXUncertain significance1847047743RCV001321620; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204469135204469135204469-
NM_015046.7(SETX):c.2502A>G (p.Gly834=)23064SETXConflicting interpretations of pathogenicity762818441RCV000659130|RCV001287952|RCV001473215|RCV001849033|RCV002424561; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012391352044831352044839:g.135204483T>C-CN517202 not provided;
NM_015046.7(SETX):c.2490A>C (p.Gly830=)23064SETXLikely benign751429987RCV000992931|RCV001496703|RCV001847125|RCV003233889|RCV003233890; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:60600291352044951352044959:g.135204495T>G-
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)23064SETXConflicting interpretations of pathogenicity150532677RCV000540061|RCV000762582|RCV001000648|RCV001167462|RCV001167461|RCV001848950|RCV002252164|RCV002456164; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1891352045061352045069:g.135204506T>CClinGen:CA5297587C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys)23064SETXBenign544815791RCV001307120; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204514135204514135204514-
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)23064SETXConflicting interpretations of pathogenicity141163823RCV000337733|RCV000375508|RCV001662354|RCV001509826; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135204516135204516NC_000009.11:g.135204516G>CClinGen:CA5297588CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)23064SETXConflicting interpretations of pathogenicity369470593RCV000527749|RCV002456163; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C09501239135204539135204539NC_000009.11:g.135204539T>CClinGen:CA5297590C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp)23064SETXUncertain significance190841601RCV001168072|RCV001168071; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352045461352045469:g.135204546T>G-
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)23064SETXConflicting interpretations of pathogenicity-1RCV002948223|RCV003409981; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|9135204569135204569NC_000009.11:g.135204569C>T-
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)23064SETXConflicting interpretations of pathogenicity201096140RCV000644819|RCV002458083; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135204574135204574NC_000009.11:g.135204574A>GClinGen:CA5297599C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)23064SETXLikely benign1400027699RCV000644823; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352045811352045819:g.135204581T>CClinGen:CA375336078C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu)23064SETXBenign/Likely benign149718424RCV000489114|RCV001086400|RCV001662474|RCV002455945|RCV003233649|RCV003233650; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MO9135204584135204584NC_000009.11:g.135204584T>CClinGen:CA5297601
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)23064SETXConflicting interpretations of pathogenicity761725498RCV000820064|RCV001311798|RCV002290467|RCV002442748; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845|MeSH:D030342,MedGen:C095012391352045861352045869:g.135204586C>A-
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)23064SETXConflicting interpretations of pathogenicity200459144RCV000517993|RCV000551603|RCV002448560; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C095012391352045901352045909:g.135204590G>AClinGen:CA5297604C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)23064SETXUncertain significance1273786747RCV001644613|RCV001857927|RCV003233672|RCV003233671; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352045951352045959:g.135204595T>CClinGen:CA375336137CN169374 not specified;
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)23064SETXPathogenic745775419RCV001232395|RCV001815521|RCV003234008; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352045951352045989:g.135204595_135204598del-
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)23064SETXUncertain significance1554821445RCV000644815; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204646135204646NC_000009.11:g.135204646G>AClinGen:CA375336278C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala)23064SETXUncertain significance1481664998RCV001883477; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204647135204647135204647-
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)23064SETXPathogenic/Likely pathogenic747501465RCV001268461|RCV001542669; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352046531352046539:g.135204653G>A-
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu)23064SETXUncertain significance2131453786RCV002001795; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204665135204665135204665-
NM_015046.7(SETX):c.2303A>T (p.Lys768Met)23064SETXUncertain significance1554821462RCV000539262; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352046821352046829:g.135204682T>AClinGen:CA375336357C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)23064SETXUncertain significance771954896RCV000283365|RCV000340751; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204690135204690NC_000009.11:g.135204690G>TClinGen:CA5297624CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)23064SETXConflicting interpretations of pathogenicity200153024RCV000526691|RCV002448727; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C095012391352047031352047039:g.135204703G>AClinGen:CA5297629C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)23064SETXConflicting interpretations of pathogenicity373647065RCV001168074|RCV001168073|RCV001859091|RCV001531746|RCV002445405; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352047071352047079:g.135204707T>C-
NM_015046.7(SETX):c.2267A>T (p.Glu756Val)23064SETXConflicting interpretations of pathogenicity202036078RCV001904685|RCV002449490; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135204718135204718135204718-
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly)23064SETXConflicting interpretations of pathogenicity764538703RCV001211390|RCV003398941; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|91352047241352047249:g.135204724G>C-
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)23064SETXUncertain significance745938575RCV000644812|RCV002473087|RCV003233769|RCV003233770; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352047311352047319:g.135204731T>CClinGen:CA5297637C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)23064SETXUncertain significance922821119RCV002009216|RCV002423244|RCV003234159|RCV003234160; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135204740135204740135204740-
NM_015046.7(SETX):c.2234G>A (p.Arg745His)23064SETXBenign373933140RCV002030903; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204751135204751135204751-
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)23064SETXConflicting interpretations of pathogenicity780121182RCV001531747|RCV002568198; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204752135204752135204752-
NM_015046.7(SETX):c.2232A>C (p.Thr744=)23064SETXLikely benign749481788RCV000904586; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352047531352047539:g.135204753T>G-
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)23064SETXBenign/Likely benign36024203RCV000306091|RCV000401603|RCV000515126|RCV001087113|RCV001706607|RCV001848727|RCV002418221; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135204769135204769NC_000009.11:g.135204769C>TClinGen:CA5297642C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly)23064SETXUncertain significance2131454695RCV001921749; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204785135204785135204785-
NM_015046.7(SETX):c.2190T>C (p.Asn730=)23064SETXLikely benign-1RCV003036331; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204795135204795-
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)23064SETXUncertain significance377734748RCV000713200|RCV001232643|RCV002424738|RCV003233835|RCV003233836; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011229135204809135204809NC_000009.11:g.135204809A>G-
NM_015046.7(SETX):c.2154C>A (p.Ile718=)23064SETXLikely benign-1RCV002811386; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204831135204831-
NM_015046.7(SETX):c.2133G>A (p.Lys711=)23064SETXLikely benign746772505RCV001489946; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204852135204852135204852-
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)23064SETXUncertain significance750530263RCV001883125|RCV002473312|RCV003234128|RCV003234129; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135204860135204860135204860-
NM_015046.7(SETX):c.2124T>C (p.Ser708=)23064SETXConflicting interpretations of pathogenicity139236924RCV000644840|RCV001849023|RCV002422334|RCV003432685; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MedGen:C36619009135204861135204861NC_000009.11:g.135204861A>GClinGen:CA5297662C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)23064SETXUncertain significance1554821571RCV000644824; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204862135204862NC_000009.11:g.135204862C>AClinGen:CA375336918C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2119A>G (p.Ile707Val)23064SETXBenign1419145387RCV001232669; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352048661352048669:g.135204866T>C-
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)23064SETXUncertain significance-1RCV002291168; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204867135204871135204866-
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu)23064SETXLikely benign776432277RCV001213178; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352048691352048699:g.135204869T>C-
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)23064SETXBenign/Likely benign34781846RCV000518054|RCV000549702|RCV001848900|RCV002420300|RCV003233669|RCV003233670; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:00189991352048721352048729:g.135204872T>GClinGen:CA5297664C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr)23064SETXConflicting interpretations of pathogenicity769620847RCV001287951|RCV001871701; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204884135204884135204884-
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)23064SETXUncertain significance-1RCV002631639; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204928135204928NC_000009.11:g.135204928C>A-
NM_015046.7(SETX):c.2037A>G (p.Leu679=)23064SETXLikely benign1432462823RCV001492294; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204948135204948135204948-
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)23064SETXConflicting interpretations of pathogenicity143727702RCV000537094|RCV000992930|RCV002420466; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MeSH:D030342,MedGen:C095012391352049801352049809:g.135204980T>AClinGen:CA5297680C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)23064SETXUncertain significance780898043RCV000344541|RCV000390382|RCV000803584; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135204982135204982NC_000009.11:g.135204982T>CClinGen:CA5297681CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)23064SETXUncertain significance-1RCV003081893; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204986135204986NC_000009.11:g.135204986C>T-
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)23064SETXBenign-1RCV002591718; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204989135204989NC_000009.11:g.135204989C>G-
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)23064SETXUncertain significance773195802RCV001373070|RCV003234057|RCV003234058; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204991135204996135204990-
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)23064SETXUncertain significance1339144218RCV001168841|RCV001168842; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352049921352049929:g.135204992C>G-
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys)23064SETXUncertain significance1339144218RCV001223185; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352049921352049929:g.135204992C>T-
NM_015046.7(SETX):c.1986C>T (p.Asn662=)23064SETXLikely benign1307680734RCV001462748; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135204999135204999135204999-
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)23064SETXBenign882709RCV000081692|RCV000309491|RCV000366991|RCV000576827|RCV001512048; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891352050061352050069:g.135205006G>CClinGen:CA148707,UniProtKB:Q7Z333#VAR_018781C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1968A>G (p.Val656=)23064SETXBenign/Likely benign113997459RCV000644841|RCV001683622|RCV001849024|RCV003233779|RCV003233780|RCV002422335; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060029135205017135205017NC_000009.11:g.135205017T>CClinGen:CA5297687C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)23064SETXUncertain significance-1RCV002731388; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205021135205021NC_000009.11:g.135205021C>G-
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)23064SETXBenign/Likely benign116333061RCV000644849|RCV001541751|RCV001848883|RCV003233661|RCV003233660; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352050281352050289:g.135205028G>TClinGen:CA027112,UniProtKB:Q7Z333#VAR_036648,OMIM:608465.0010,ClinVar:441280C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu)23064SETXUncertain significance1015257691RCV001985794; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205034135205034135205034-
NM_015046.7(SETX):c.1948A>G (p.Met650Val)23064SETXConflicting interpretations of pathogenicity-1RCV003090688|RCV003404061; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN1693749135205037135205037NC_000009.11:g.135205037T>C-
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)23064SETXUncertain significance-1RCV002588533; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205041135205043NC_000009.11:g.135205043_135205045del-
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)23064SETXUncertain significance886063557RCV000274650|RCV000313496; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205063135205063NC_000009.11:g.135205063G>CClinGen:CA10626636CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp)23064SETXUncertain significance998278975RCV001891262; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205066135205066135205066-
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)23064SETXUncertain significance-1RCV002654187; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205075135205075NC_000009.11:g.135205075C>T-
NM_015046.7(SETX):c.1889C>T (p.Thr630Met)23064SETXConflicting interpretations of pathogenicity749132753RCV001232366|RCV002411856; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352050961352050969:g.135205096G>A-
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr)23064SETXUncertain significance768673354RCV001910346; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205099135205099135205099-
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)23064SETXConflicting interpretations of pathogenicity199707503RCV000272686|RCV001087861|RCV001165958|RCV001165957; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352051051352051059:g.135205105A>GClinGen:CA5297703CN169374 not specified;
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)23064SETXConflicting interpretations of pathogenicity139200312RCV000143814|RCV000794428|RCV002408640; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135205116135205116NC_000009.11:g.135205116T>GClinGen:CA233093CN517202 not provided;
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys)23064SETXBenign773035724RCV001909014; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205121135205121135205121-
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp)23064SETXUncertain significance777081940RCV001663591|RCV002414293|RCV003234089|RCV003234090; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205127135205127135205127-
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe)23064SETXUncertain significance143340285RCV002044210; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205141135205141135205141-
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)23064SETXUncertain significance-1RCV002644371; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205144135205144NC_000009.11:g.135205144A>G-
NM_015046.7(SETX):c.1833A>G (p.Ala611=)23064SETXLikely benign751829537RCV001414247; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205152135205152135205152-
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala)23064SETXUncertain significance957434595RCV001922760; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205175135205175135205175-
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)23064SETXBenign/Likely benign116205032RCV000644848|RCV001085644|RCV001848884|RCV003233663|RCV003233662; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352051781352051789:g.135205178T>CClinGen:CA026956,UniProtKB:Q7Z333#VAR_036647,OMIM:608465.0010,ClinVar:441280C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu)23064SETXConflicting interpretations of pathogenicity1338284039RCV002028744|RCV002407278; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135205194135205194135205194-
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)23064SETXConflicting interpretations of pathogenicity-1RCV002474452|RCV002571527; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205214135205214NC_000009.11:g.135205214T>C-
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)23064SETXConflicting interpretations of pathogenicity188247474RCV000713199|RCV002532950|RCV002397497; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135205231135205231NC_000009.11:g.135205231T>C-
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)23064SETXConflicting interpretations of pathogenicity764995848RCV000705240|RCV001759414|RCV002397476; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202|MeSH:D030342,MedGen:C09501239135205235135205235NC_000009.11:g.135205235G>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly)23064SETXUncertain significance770280073RCV001889313; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205253135205253135205253-
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)23064SETXUncertain significance1482836809RCV000821435; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352052711352052719:g.135205271G>C-
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)23064SETXBenign/Likely benign143982186RCV000259196|RCV000370468|RCV001087211|RCV000873626; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205292135205292NC_000009.11:g.135205292A>GClinGen:CA5297731CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)23064SETXConflicting interpretations of pathogenicity761877146RCV000518116|RCV000695046|RCV002413399; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C095012391352052951352052959:g.135205295A>CClinGen:CA5297732C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1668G>A (p.Lys556=)23064SETXLikely benign1328865930RCV000900024; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352053171352053179:g.135205317C>T-
NM_015046.7(SETX):c.1626C>T (p.Leu542=)23064SETXLikely benign746541015RCV000548655|RCV001531748|RCV001662566|RCV002404484|RCV003233711|RCV003233710; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|M9135205359135205359NC_000009.11:g.135205359G>AClinGen:CA5297740C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1617T>A (p.Ile539=)23064SETXLikely benign-1RCV003038180; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205368135205368-
NM_015046.7(SETX):c.1590T>C (p.Ser530=)23064SETXLikely benign-1RCV003019721; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205395135205395-
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp)23064SETXUncertain significance1847120441RCV001322119; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205400135205400135205400-
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)23064SETXUncertain significance-1RCV002398270|RCV003096972|RCV003234198|RCV003234199; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135205402135205402135205402-
NM_015046.7(SETX):c.1576A>G (p.Met526Val)23064SETXUncertain significance762013471RCV000698602; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352054091352054099:g.135205409T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)23064SETXUncertain significance2131460183RCV001870562; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205412135205412135205412-
NM_015046.7(SETX):c.1561C>T (p.Leu521=)23064SETXLikely benign148638979RCV000536297|RCV002404483|RCV003233708|RCV003233709; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18654091352054241352054249:g.135205424G>AClinGen:CA5297753C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)23064SETXUncertain significance-1RCV002908652; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205441135205441NC_000009.11:g.135205441G>A-
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)23064SETXLikely benign-1RCV002899529; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205444135205444NC_000009.11:g.135205444C>G-
NM_015046.7(SETX):c.1536C>T (p.Ser512=)23064SETXLikely benign2131460559RCV002137862; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205449135205449135205449-
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)23064SETXUncertain significance750044197RCV001000858|RCV002549143|RCV003233919|RCV003233920; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352054801352054809:g.135205480C>T-
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)23064SETXConflicting interpretations of pathogenicity534723946RCV000143813|RCV000626102|RCV000790203|RCV000791025|RCV001523409; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135205481135205481NC_000009.11:g.135205481G>AClinGen:CA233090C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1497G>A (p.Ala499=)23064SETXLikely benign142936332RCV001410337; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205488135205488135205488-
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)23064SETXConflicting interpretations of pathogenicity779544809RCV001165959|RCV001165960|RCV002558616; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352054931352054939:g.135205493T>C-
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)23064SETXPathogenic2131461009RCV001872206; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205501135205501135205501-
NM_015046.7(SETX):c.1479C>T (p.Ala493=)23064SETXLikely benign771289068RCV001455504; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205506135205506135205506-
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)23064SETXUncertain significance763545230RCV000700292|RCV000713198|RCV001644767|RCV002388306|RCV003233822|RCV003233823; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600, Orphanet:316226|MeSH:D0391352055171352055179:g.135205517C>T-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1467C>T (p.Val489=)23064SETXLikely benign142093830RCV000713197|RCV002388357|RCV003233833|RCV003233834; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205518135205518NC_000009.11:g.135205518G>A-
NM_015046.7(SETX):c.1464C>T (p.Ala488=)23064SETXLikely benign139275155RCV002133321; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205521135205521135205521-
NM_015046.7(SETX):c.1443T>C (p.Ser481=)23064SETXLikely benign-1RCV002592165; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205542135205542-
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)23064SETXUncertain significance377301250RCV001322969; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205547135205547135205547-
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)23064SETXUncertain significance777314512RCV000518598|RCV001229711|RCV001560100|RCV002395237|RCV003233665|RCV003233666; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MO9135205553135205558NC_000009.11:g.135205558_135205563delClinGen:CA5297778
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)23064SETXUncertain significance754200234RCV000812528; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352055641352055649:g.135205564C>T-
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)23064SETXUncertain significance886063558RCV000316819|RCV000373806; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205569135205569NC_000009.11:g.135205569T>AClinGen:CA10626638CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser)23064SETXUncertain significance2131461800RCV002036690; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205588135205588135205588-
NM_015046.7(SETX):c.1392A>G (p.Ser464=)23064SETXConflicting interpretations of pathogenicity144164119RCV000517536|RCV001463467|RCV001848899|RCV002395236; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C09501239135205593135205593NC_000009.11:g.135205593T>CClinGen:CA5297784CN169374 not specified;
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)23064SETXConflicting interpretations of pathogenicity200614765RCV000262880|RCV000320659|RCV000687686|RCV002472998|RCV002392927; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205594135205594NC_000009.11:g.135205594G>AClinGen:CA5297785C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)23064SETXConflicting interpretations of pathogenicity201441886RCV000702549|RCV001167523|RCV001167524|RCV001662774|RCV002386256; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352056111352056119:g.135205611A>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)23064SETXUncertain significance886063559RCV000285406|RCV000377591; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205627135205627NC_000009.11:g.135205627T>CClinGen:CA10626639CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)23064SETXConflicting interpretations of pathogenicity370363342RCV000992929|RCV000695198|RCV002386213; NMedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352056421352056429:g.135205642T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1338A>G (p.Gln446=)23064SETXLikely benign-1RCV002944060; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205647135205647-
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)23064SETXConflicting interpretations of pathogenicity778488721RCV001093200|RCV002554866; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352056971352056979:g.135205697C>T-
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)23064SETXUncertain significance747053403RCV000992928|RCV001198874|RCV003233888; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352057001352057009:g.135205700T>C-
NM_015046.7(SETX):c.1260T>C (p.Asp420=)23064SETXLikely benign2131462924RCV002214754; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205725135205725135205725-
NM_015046.7(SETX):c.1227A>G (p.Leu409=)23064SETXConflicting interpretations of pathogenicity769913556RCV001847553|RCV002227284|RCV002543367; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205758135205758135205758-
NM_015046.7(SETX):c.1221A>G (p.Thr407=)23064SETXConflicting interpretations of pathogenicity377618570RCV001000987|RCV001168148|RCV001167525|RCV001499712; NMedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352057641352057649:g.135205764T>C-
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)23064SETXUncertain significance772044862RCV000690836|RCV002544893|RCV003233817|RCV003233818; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135205781135205781NC_000009.11:g.135205781G>A-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)23064SETXPathogenic29001584RCV000002379|RCV000644828|RCV000724322|RCV000789615|RCV003233065; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202|MONDO:MONDO:0018894,MedGen:C0393541, Orphanet:59135205819135205819NC_000009.11:g.135205819A>GClinGen:CA252183,UniProtKB:Q7Z333#VAR_018779,OMIM:608465.0006C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)23064SETXUncertain significance1554821963RCV000644825; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352058321352058329:g.135205832C>TClinGen:CA375345398C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)23064SETXUncertain significance-1RCV002639973; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205839135205839NC_000009.11:g.135205839C>T-
NM_015046.7(SETX):c.1140T>G (p.Pro380=)23064SETXConflicting interpretations of pathogenicity140553290RCV001813050|RCV001847229|RCV002542980; NMedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205845135205845135205845-
NM_015046.7(SETX):c.1099-7A>G23064SETXLikely benign764675117RCV002109916; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205893135205893135205893-
NM_015046.7(SETX):c.1099-12C>A23064SETXLikely benign752063617RCV002109419; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135205898135205898135205898-
NM_015046.7(SETX):c.1099-13del23064SETXLikely benign-1RCV002947809; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205899135205899NC_000009.11:g.135205901del-
NM_015046.7(SETX):c.1099-17C>T23064SETXLikely benign-1RCV002633597; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135205903135205903NC_000009.11:g.135205903G>A-
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)23064SETXUncertain significance768198537RCV001990970|RCV002425372|RCV003234149|RCV003234150; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135206451135206451135206451-
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)23064SETXBenign9411449RCV000081691|RCV000324127|RCV000381219|RCV000713195|RCV001511960; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1891352064601352064609:g.135206460A>GClinGen:CA148704CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)23064SETXUncertain significance143270460RCV001048687|RCV001508272|RCV002409420|RCV003233938|RCV003233939; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:00112291352064711352064719:g.135206471C>T-
NM_015046.7(SETX):c.1065C>T (p.Ile355=)23064SETXLikely benign376107422RCV002100314; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206472135206472135206472-
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter)23064SETXPathogenic121434381RCV000002386; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352065101352065109:g.135206510C>AClinGen:CA252194,OMIM:608465.0013C1853761 606002 Spinocerebellar ataxia autosomal recessive 1;
NM_015046.7(SETX):c.1026G>A (p.Pro342=)23064SETXLikely benign-1RCV002637642; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206511135206511-
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)23064SETXConflicting interpretations of pathogenicity768437607RCV001168149|RCV001168150|RCV001664720|RCV001238833|RCV002339420; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352065221352065229:g.135206522T>G-
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala)23064SETXUncertain significance999767103RCV001208643; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352065251352065259:g.135206525T>C-
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)23064SETXUncertain significance-1RCV002606907; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206526135206526NC_000009.11:g.135206526C>G-
NM_015046.7(SETX):c.1010+14A>C23064SETXLikely benign-1RCV002625044; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206650135206650NC_000009.11:g.135206650T>G-
NM_015046.7(SETX):c.1010+4_1010+7dup23064SETXLikely benign1222378139RCV002145957; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206656135206657135206656-
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)23064SETXUncertain significance-1RCV003070465; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206668135206668NC_000009.11:g.135206668C>T-
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)23064SETXUncertain significance538829833RCV001977566|RCV002074446|RCV003234148|RCV003234147; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135206676135206676135206676-
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)23064SETXPathogenic/Likely pathogenic29001665RCV000002378|RCV000269785; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN51720291352066801352066809:g.135206680G>AOMIM:608465.0005,ClinGen:CA252181,UniProtKB:Q7Z333#VAR_018778CN517202 not provided;
NM_015046.7(SETX):c.991A>G (p.Ile331Val)23064SETXConflicting interpretations of pathogenicity572884359RCV001883640|RCV002464496|RCV002386648; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MeSH:D030342,MedGen:C09501239135206683135206683135206683-
NM_015046.7(SETX):c.988C>T (p.His330Tyr)23064SETXUncertain significance1847220041RCV001168151|RCV001168903; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352066861352066869:g.135206686G>A-
NM_015046.7(SETX):c.986G>A (p.Arg329Gln)23064SETXBenign376077293RCV001243995; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352066881352066889:g.135206688C>T-
NM_015046.7(SETX):c.980A>T (p.Glu327Val)23064SETXUncertain significance1315992594RCV001955253; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206694135206694135206694-
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)23064SETXConflicting interpretations of pathogenicity-1RCV002474444|RCV002569401; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206701135206701NC_000009.11:g.135206701T>C-
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)23064SETXConflicting interpretations of pathogenicity372193033RCV000644822|RCV001644729|RCV002369707|RCV003424222; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C36619009135206706135206706NC_000009.11:g.135206706C>TClinGen:CA5297886C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.964G>A (p.Ala322Thr)23064SETXUncertain significance540348550RCV001933649; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206710135206710135206710-
NM_015046.7(SETX):c.963C>T (p.Asn321=)23064SETXLikely benign750254836RCV002190061; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206711135206711135206711-
NM_015046.7(SETX):c.951C>T (p.Thr317=)23064SETXLikely benign1025452911RCV002198466; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206723135206723135206723-
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)23064SETXUncertain significance-1RCV003112246; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206746135206746NC_000009.11:g.135206746C>T-
NM_015046.7(SETX):c.912C>T (p.Val304=)23064SETXLikely benign1473756878RCV001449541; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206762135206762135206762-
NM_015046.7(SETX):c.900T>C (p.Leu300=)23064SETXLikely benign147938250RCV000906848; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352067741352067749:g.135206774A>G-
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)23064SETXConflicting interpretations of pathogenicity777182592RCV000664255|RCV001263157|RCV002530626; NMONDO:MONDO:0018894,MedGen:C0393541, Orphanet:53739|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206779135206779NC_000009.11:g.135206779G>A-C0393541 Distal spinal muscular atrophy;
NM_015046.7(SETX):c.879T>C (p.Phe293=)23064SETXLikely benign-1RCV002635479; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206795135206795-
NM_015046.7(SETX):c.867G>A (p.Ala289=)23064SETXLikely benign769799706RCV002194765; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206807135206807135206807-
NM_015046.7(SETX):c.866C>T (p.Ala289Val)23064SETXUncertain significance1237541645RCV001224042|RCV002447126|RCV002473228|RCV003234002|RCV003234001; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018991352068081352068089:g.135206808G>A-
NM_015046.7(SETX):c.865G>A (p.Ala289Thr)23064SETXUncertain significance775579797RCV002033127; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135206809135206809135206809-
NM_015046.7(SETX):c.855T>C (p.Pro285=)23064SETXLikely benign141736312RCV001450719; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206819135206819135206819-
NM_015046.7(SETX):c.839-6T>C23064SETXConflicting interpretations of pathogenicity760584527RCV000992961|RCV002549820; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352068411352068419:g.135206841A>G-
NM_015046.7(SETX):c.839-14C>T23064SETXLikely benign-1RCV002609009; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135206849135206849NC_000009.11:g.135206849G>A-
NC_000009.11:g.(?_135209975)_(135210134_?)dup23064SETXUncertain significance-1RCV003119480; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135209975135210134-
NM_015046.7(SETX):c.838+10T>G23064SETXLikely benign2131491563RCV002106110; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135209985135209985135209985-
NM_015046.7(SETX):c.823G>A (p.Glu275Lys)23064SETXUncertain significance901741485RCV001935560; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135210010135210010135210010-
NM_015046.7(SETX):c.823G>C (p.Glu275Gln)23064SETXUncertain significance901741485RCV001888615|RCV003303272; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135210010135210010135210010-
NM_015046.7(SETX):c.820A>G (p.Met274Val)23064SETXConflicting interpretations of pathogenicity753713810RCV001037092|RCV002473168|RCV003413819; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|91352100131352100139:g.135210013T>C-
NM_015046.7(SETX):c.808A>G (p.Ile270Val)23064SETXUncertain significance1387745582RCV000699312; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352100251352100259:g.135210025T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.807G>A (p.Ser269=)23064SETXLikely benign147677608RCV002096903|RCV003426292; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135210026135210026135210026-
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)23064SETXUncertain significance757988188RCV000517524|RCV001039811|RCV001168904|RCV001168905|RCV002223857|RCV002420301; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606009135210027135210027NC_000009.11:g.135210027G>AClinGen:CA5297936CN169374 not specified;
NM_015046.7(SETX):c.792T>C (p.Asn264=)23064SETXLikely benign-1RCV002932897; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135210041135210041-
NM_015046.7(SETX):c.784A>G (p.Lys262Glu)23064SETXUncertain significance2131492208RCV001368834; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135210049135210049135210049-
NM_015046.7(SETX):c.768G>T (p.Leu256=)23064SETXConflicting interpretations of pathogenicity759468738RCV000536421|RCV001168906|RCV001168907|RCV002404485; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352100651352100659:g.135210065C>AClinGen:CA5297945C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.765C>A (p.Ser255=)23064SETXLikely benign774297687RCV002143642; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135210068135210068135210068-
NM_015046.7(SETX):c.742C>T (p.Leu248Phe)23064SETXUncertain significance748358261RCV001864900; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135210091135210091135210091-
NM_015046.7(SETX):c.737C>G (p.Thr246Ser)23064SETXUncertain significance1847481832RCV001168908|RCV001168909; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352100961352100969:g.135210096G>C-
NM_015046.7(SETX):c.727A>G (p.Met243Val)23064SETXUncertain significance-1RCV002765365; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135210106135210106NC_000009.11:g.135210106T>C-
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)23064SETXPathogenic1589757407RCV001003375; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352101141352101149:g.135210114C>T-
NM_015046.7(SETX):c.719-4A>G23064SETXConflicting interpretations of pathogenicity775443601RCV001411304|RCV001847266|RCV002377642; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C09501239135210118135210118135210118-
NM_015046.7(SETX):c.719-17dup23064SETXLikely benign-1RCV002625740; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135210130135210131NC_000009.11:g.135210131dup-
NM_015046.7(SETX):c.719-17T>G23064SETXLikely benign140720865RCV002155170; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135210131135210131135210131-
NM_015046.7(SETX):c.718+18A>C23064SETXLikely benign773630853RCV002194713; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211665135211665135211665-
NM_015046.7(SETX):c.718+16A>C23064SETXLikely benign769647958RCV002185410; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211667135211667135211667-
NM_015046.7(SETX):c.718+14C>A23064SETXBenign762900574RCV002146629; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211669135211669135211669-
NM_015046.7(SETX):c.718+13C>T23064SETXLikely benign-1RCV002952605; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211670135211670NC_000009.11:g.135211670G>A-
NM_015046.7(SETX):c.718+3G>C23064SETXUncertain significance2131504173RCV001944846|RCV003235608; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211680135211680135211680-
NM_015046.7(SETX):c.717A>G (p.Leu239=)23064SETXBenign/Likely benign147125311RCV000542634|RCV001079845|RCV003233731|RCV003233732; NMedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135211684135211684NC_000009.11:g.135211684T>CClinGen:CA5297976C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)23064SETXConflicting interpretations of pathogenicity138538492RCV000289058|RCV000346458|RCV001861345; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211691135211691NC_000009.11:g.135211691T>CClinGen:CA5297977CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.668T>A (p.Leu223His)23064SETXUncertain significance1211053963RCV000992952|RCV003233905|RCV003411936|RCV003233904; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043||MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352117331352117339:g.135211733A>T-
NM_015046.7(SETX):c.667C>G (p.Leu223Val)23064SETXUncertain significance774068411RCV000644821; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352117341352117349:g.135211734G>CClinGen:CA5297985C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)23064SETXUncertain significance774068411RCV001848128|RCV002361084|RCV003234119|RCV003234120|RCV003416491; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|9135211734135211734135211734-
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)23064SETXUncertain significance761180215RCV001333803|RCV001865790|RCV002377429|RCV003222308|RCV003234049; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:001899135211743135211743135211743-
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)23064SETXConflicting interpretations of pathogenicity117861188RCV000516905|RCV000535102|RCV001166018|RCV001166019|RCV001311799|RCV001848903|RCV002367720; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352117471352117479:g.135211747C>GClinGen:CA5297991C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.638C>T (p.Ser213Phe)23064SETXLikely benign1254442456RCV001848607|RCV002543423; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211763135211763135211763-
NM_015046.7(SETX):c.617A>G (p.Glu206Gly)23064SETXUncertain significance759880306RCV000292736|RCV000399899; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211784135211784NC_000009.11:g.135211784T>CClinGen:CA5297999CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.617A>C (p.Glu206Ala)23064SETXUncertain significance759880306RCV001891010; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211784135211784135211784-
NM_015046.7(SETX):c.598A>G (p.Ile200Val)23064SETXUncertain significance1368588434RCV001224150; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352118031352118039:g.135211803T>C-
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)23064SETXUncertain significance-1RCV002301236; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211809135211809135211809-
NM_015046.7(SETX):c.590T>C (p.Phe197Ser)23064SETXUncertain significance1847622037RCV001320998; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211811135211811135211811-
NM_015046.7(SETX):c.589T>A (p.Phe197Ile)23064SETXUncertain significance1847622210RCV002012235; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211812135211812135211812-
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)23064SETXUncertain significance929798338RCV001985315|RCV002344097|RCV003234143|RCV003234144; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135211830135211830135211830-
NM_015046.7(SETX):c.567A>G (p.Leu189=)23064SETXLikely benign-1RCV003023368; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211834135211834-
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)23064SETXConflicting interpretations of pathogenicity199748733RCV000992943|RCV002346197|RCV002549817; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352118551352118559:g.135211855G>T-
NM_015046.7(SETX):c.540A>G (p.Lys180=)23064SETXConflicting interpretations of pathogenicity757470639RCV001200194|RCV001166020|RCV001253917|RCV002558618; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352118611352118619:g.135211861T>C-
NM_015046.7(SETX):c.528A>G (p.Arg176=)23064SETXLikely benign-1RCV002971524; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211873135211873-
NM_015046.7(SETX):c.503G>A (p.Arg168Gln)23064SETXUncertain significance772017103RCV001943737|RCV003120753; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN1693749135211898135211898135211898-
NM_015046.7(SETX):c.499-13_499-8dup23064SETXLikely benign-1RCV002667520; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135211909135211910NC_000009.11:g.135211910_135211915dup-
NM_015046.7(SETX):c.499-8G>T23064SETXLikely benign-1RCV002618080; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211910135211910NC_000009.11:g.135211910C>A-
NM_015046.7(SETX):c.499-10C>T23064SETXLikely benign1444405452RCV001437020; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135211912135211912135211912-
NM_015046.7(SETX):c.498+30T>C23064SETXBenign11790312RCV000248193|RCV001651204|RCV003233522|RCV003233523; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218047135218047NC_000009.11:g.135218047A>GClinGen:CA5298028CN169374 not specified;
NM_015046.7(SETX):c.498+20G>A23064SETXBenign/Likely benign73659013RCV000243442|RCV001582868|RCV002058251|RCV003233521|RCV003233520; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C189135218057135218057NC_000009.11:g.135218057C>TClinGen:CA5298030CN169374 not specified;
NM_015046.7(SETX):c.498+14T>C23064SETXBenign753336459RCV002099681; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135218063135218063135218063-
NM_015046.7(SETX):c.498+10A>G23064SETXLikely benign-1RCV002662732; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218067135218067NC_000009.11:g.135218067T>C-
NM_015046.7(SETX):c.498+8dup23064SETXLikely benign-1RCV002926897; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218068135218069NC_000009.11:g.135218069dup-
NM_015046.7(SETX):c.484C>T (p.His162Tyr)23064SETXUncertain significance1186709340RCV001972193; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218091135218091135218091-
NM_015046.7(SETX):c.477T>A (p.Phe159Leu)23064SETXUncertain significance1473646250RCV001915019; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218098135218098135218098-
NM_015046.7(SETX):c.472T>G (p.Leu158Val)23064SETXConflicting interpretations of pathogenicity145438764RCV000350037|RCV000399144|RCV000513524|RCV001080659|RCV001848728|RCV002338960|RCV003317200; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243391352181031352181039:g.135218103A>CClinGen:CA5298036C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)23064SETXUncertain significance-1RCV002785463; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218105135218105NC_000009.11:g.135218105T>C-
NM_015046.7(SETX):c.459T>C (p.His153=)23064SETXLikely benign774939461RCV001394153; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135218116135218116135218116-
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)23064SETXConflicting interpretations of pathogenicity767453182RCV000644846|RCV001288404|RCV001167588|RCV001167587; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352181441352181449:g.135218144T>CClinGen:CA5298042C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.407C>T (p.Ala136Val)23064SETXConflicting interpretations of pathogenicity-1RCV002323102|RCV003094510; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218168135218168135218168-
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)23064SETXUncertain significance766625711RCV001167589|RCV001167590; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352181781352181789:g.135218178A>C-
NM_015046.7(SETX):c.396A>G (p.Leu132=)23064SETXLikely benign375232867RCV002097657; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218179135218179135218179-
NM_015046.7(SETX):c.390C>T (p.Asn130=)23064SETXLikely benign138363625RCV001001561|RCV003117681; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352181851352181859:g.135218185G>A-
NM_015046.7(SETX):c.389-8_389-6del23064SETXLikely benign-1RCV002781190; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218192135218194NC_000009.11:g.135218194_135218196del-
NM_015046.7(SETX):c.389-7T>C23064SETXLikely benign-1RCV002651847; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218193135218193NC_000009.11:g.135218193A>G-
NM_015046.7(SETX):c.389-9del23064SETXConflicting interpretations of pathogenicity534931548RCV000297311|RCV001844142|RCV002523744; NMedGen:CN239175|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352181951352181959:g.135218195_135218195delClinGen:CA5298052CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.389-16A>G23064SETXLikely benign200380642RCV002161702; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135218202135218202135218202-
NM_015046.7(SETX):c.389-20A>C23064SETXLikely benign1848060275RCV002200696; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135218206135218206135218206-
NM_015046.7(SETX):c.388+19C>T23064SETXLikely benign-1RCV003076093; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135221629135221629NC_000009.11:g.135221629G>A-
NM_015046.7(SETX):c.388+19C>G23064SETXLikely benign-1RCV002904260; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135221629135221629NC_000009.11:g.135221629G>C-
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)23064SETXUncertain significance552476047RCV001311800|RCV001871780|RCV003234038|RCV003246866|RCV003234039; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011229135221654135221654135221654-
NM_015046.7(SETX):c.377A>G (p.His126Arg)23064SETXConflicting interpretations of pathogenicity368932301RCV001093201|RCV001242996|RCV003413906; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|91352216591352216599:g.135221659T>C-
NM_015046.7(SETX):c.372T>G (p.Leu124=)23064SETXLikely benign1263479038RCV001459161; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135221664135221664135221664-
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del)23064SETXLikely pathogenic587776537RCV000002387|RCV000624514; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352216911352216939:g.135221691_135221693delClinGen:CA252197,OMIM:608465.0014C0950123 Inborn genetic diseases;
NM_015046.7(SETX):c.343C>G (p.Leu115Val)23064SETXUncertain significance538372427RCV001267159|RCV001880135|RCV003234018|RCV003234019; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C18654091352216931352216939:g.135221693G>C-
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)23064SETXPathogenic-1RCV002949307; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135221705135221705NC_000009.11:g.135221705G>A-
NM_015046.7(SETX):c.304A>G (p.Thr102Ala)23064SETXConflicting interpretations of pathogenicity770962447RCV001848119|RCV002034740|RCV002449445; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C09501239135221732135221732135221732-
NM_015046.7(SETX):c.301A>G (p.Ile101Val)23064SETXUncertain significance376848704RCV001315431; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135221735135221735135221735-
NM_015046.7(SETX):c.273C>T (p.Asp91=)23064SETXLikely benign-1RCV002751061; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135221763135221763-
NM_015046.7(SETX):c.267A>G (p.Ile89Met)23064SETXUncertain significance767232097RCV001219943|RCV003233997|RCV003233998|RCV002562491; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352217691352217699:g.135221769T>C-
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys)23064SETXLikely benign149276791RCV000698387; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352217731352217739:g.135221773T>C-C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.245G>A (p.Gly82Glu)23064SETXConflicting interpretations of pathogenicity201864041RCV001367166|RCV002456568|RCV003399175; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|9135221791135221791135221791-
NM_015046.7(SETX):c.234G>A (p.Lys78=)23064SETXLikely benign146206138RCV000876415|RCV002512130|RCV003233880|RCV003233879; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:6060091352218021352218029:g.135221802C>T-
NM_015046.7(SETX):c.208A>G (p.Ile70Val)23064SETXConflicting interpretations of pathogenicity747469176RCV000644809|RCV002422333|RCV003403488; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|9135221828135221828NC_000009.11:g.135221828T>CClinGen:CA5298101C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.207C>G (p.Leu69=)23064SETXLikely benign-1RCV002645907; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135221829135221829-
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)23064SETXLikely pathogenic771481623RCV001799572; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135221834135221834135221834-
NM_015046.7(SETX):c.199T>C (p.Leu67=)23064SETXLikely benign2131558600RCV001497099; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135221837135221837135221837-
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)23064SETXUncertain significance1554825315RCV000790206|RCV002298772; NMONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352218431352218439:g.135221843C>T-
NM_015046.7(SETX):c.192A>G (p.Leu64=)23064SETXConflicting interpretations of pathogenicity117326462RCV000556642|RCV001167591|RCV001167592|RCV001287950|RCV001558290|RCV001848949|RCV002413561; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352218441352218449:g.135221844T>CClinGen:CA5298104C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.177+18G>A23064SETXLikely benign201574662RCV002102771; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224621135224621135224621-
NM_015046.7(SETX):c.177+6A>G23064SETXUncertain significance2131575018RCV001879036; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224633135224633135224633-
NM_015046.7(SETX):c.174T>C (p.His58=)23064SETXLikely benign1470975448RCV002078973; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224642135224642135224642-
NM_015046.7(SETX):c.172C>T (p.His58Tyr)23064SETXConflicting interpretations of pathogenicity757760067RCV000516965|RCV001049138|RCV002404330; NMedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C095012391352246441352246449:g.135224644G>AClinGen:CA200838114CN169374 not specified;
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)23064SETXUncertain significance1032816797RCV001056142; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352246491352246499:g.135224649A>G-
NM_015046.7(SETX):c.162G>A (p.Leu54=)23064SETXLikely benign1175429740RCV001461924; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135224654135224654135224654-
NM_015046.7(SETX):c.159A>G (p.Glu53=)23064SETXLikely benign2131575185RCV001435079; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224657135224657135224657-
NM_015046.7(SETX):c.156T>C (p.Asp52=)23064SETXUncertain significance1848476611RCV001167593|RCV001168219; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352246601352246609:g.135224660A>G-
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)23064SETXUncertain significance777256092RCV001770649|RCV002543999|RCV003234105|RCV003234106; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135224664135224664135224664-
NM_015046.7(SETX):c.146A>G (p.Lys49Arg)23064SETXUncertain significance142551293RCV001287948|RCV003166620|RCV003234025|RCV003234026; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135224670135224670135224670-
NM_015046.7(SETX):c.99C>T (p.Ala33=)23064SETXLikely benign762914576RCV000533713|RCV002384169|RCV003233741|RCV003233742; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409135224717135224717NC_000009.11:g.135224717G>AClinGen:CA5298132C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.93A>G (p.Gln31=)23064SETXConflicting interpretations of pathogenicity201795631RCV000557520|RCV002377107|RCV003403308; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|9135224723135224723NC_000009.11:g.135224723T>CClinGen:CA5298133C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.81C>T (p.Ser27=)23064SETXConflicting interpretations of pathogenicity149229231RCV000873708|RCV001288751|RCV001847094|RCV003117630; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MedGen:C366190091352247351352247359:g.135224735G>A-
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)23064SETXLikely benign-1RCV002998767; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224736135224736NC_000009.11:g.135224736G>A-
NM_015046.7(SETX):c.78G>A (p.Pro26=)23064SETXLikely benign139972421RCV002167490|RCV003434386; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C36619009135224738135224738135224738-
NM_015046.7(SETX):c.77C>G (p.Pro26Arg)23064SETXUncertain significance377617692RCV000312389|RCV000408198; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352247391352247399:g.135224739G>CClinGen:CA10629250CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.77C>T (p.Pro26Leu)23064SETXConflicting interpretations of pathogenicity377617692RCV001848131|RCV003120722; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224739135224739135224739-
NM_015046.7(SETX):c.75T>G (p.Thr25=)23064SETXLikely benign1589791526RCV001403383; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352247411352247419:g.135224741A>C-
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)23064SETXUncertain significance981346599RCV000531183|RCV003233736|RCV003233735; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224745135224745NC_000009.11:g.135224745T>CClinGen:CA200838232C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.68C>T (p.Ser23Phe)23064SETXUncertain significance1323126988RCV000547708; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224748135224748NC_000009.11:g.135224748G>AClinGen:CA375352025C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.64G>T (p.Ala22Ser)23064SETXUncertain significance756600708RCV000644832; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224752135224752NC_000009.11:g.135224752C>AClinGen:CA375352034C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.64G>A (p.Ala22Thr)23064SETXUncertain significance756600708RCV001350040; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224752135224752135224752-
NM_015046.7(SETX):c.60C>T (p.Arg20=)23064SETXConflicting interpretations of pathogenicity553346505RCV000272372|RCV000367105|RCV001848729|RCV002356501; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012391352247561352247569:g.135224756G>AClinGen:CA5298141CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.59G>A (p.Arg20His)23064SETXBenign/Likely benign79740039RCV000363505|RCV000327408|RCV000507126|RCV000551163|RCV001540050|RCV001848019; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:6024339135224757135224757NC_000009.11:g.135224757C>TClinVar:157525,ClinGen:CA048242C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)23064SETXUncertain significance-1RCV002355689|RCV002473370|RCV003234186|RCV003234187; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135224758135224758135224758-
NM_015046.7(SETX):c.43A>G (p.Ile15Val)23064SETXUncertain significance151040199RCV001848122|RCV002034741|RCV003234117|RCV003234118; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|9135224773135224773135224773-
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)23064SETXConflicting interpretations of pathogenicity-1RCV002333717|RCV003102579; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135224773135224773135224773-
NM_015046.7(SETX):c.36T>C (p.Ala12=)23064SETXConflicting interpretations of pathogenicity1198947358RCV001168220|RCV001168967|RCV002559610; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352247801352247809:g.135224780A>G-
NM_015046.7(SETX):c.33T>C (p.Gly11=)23064SETXLikely benign1243832257RCV000546405; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224783135224783NC_000009.11:g.135224783A>GClinGen:CA467523304C1865409 602433 Amyotrophic lateral sclerosis type 4;
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)23064SETXUncertain significance886063560RCV000268908|RCV000323745|RCV001591036; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN51720291352247841352247849:g.135224784C>TClinGen:CA10626642CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.27A>G (p.Pro9=)23064SETXLikely benign761487448RCV001400747; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:647539135224789135224789135224789-
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)23064SETXUncertain significance-1RCV003085811; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135224791135224791NC_000009.11:g.135224791G>A-
NM_015046.7(SETX):c.24G>A (p.Thr8=)23064SETXLikely benign-1RCV002780289; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135224792135224792-
NM_015046.7(SETX):c.23C>T (p.Thr8Met)23064SETXConflicting interpretations of pathogenicity1057520367RCV000440159|RCV001861495; NMedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352247931352247939:g.135224793G>AClinGen:CA16605391CN517202 not provided;
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)23064SETXUncertain significance774123592RCV000517034|RCV001255858|RCV001851460|RCV003233667|RCV003233668; NMedGen:CN169374|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,9135224799135224801NC_000009.11:g.135224801ACA[1]ClinGen:CA5298154
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)23064SETXUncertain significance1589791895RCV000813622; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352248021352248029:g.135224802C>G-
NM_015046.7(SETX):c.9A>G (p.Thr3=)23064SETXConflicting interpretations of pathogenicity139681694RCV000284093|RCV000378423|RCV002379258; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C095012391352248071352248079:g.135224807T>CClinGen:CA5298155CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.4A>G (p.Ser2Gly)23064SETXConflicting interpretations of pathogenicity149808180RCV000585415|RCV002341496|RCV001860113|RCV003420022; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|91352248121352248129:g.135224812T>CClinGen:CA5298157CN517202 not provided;
NM_015046.7(SETX):c.-70T>C23064SETXConflicting interpretations of pathogenicity72765839RCV001168968|RCV001168969; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352290981352290989:g.135229098A>G-
NM_015046.7(SETX):c.-107C>T23064SETXUncertain significance190832998RCV000320413|RCV000374707; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352291351352291359:g.135229135G>AClinGen:CA10626645CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.7(SETX):c.-123C>A23064SETXConflicting interpretations of pathogenicity184570956RCV001166068|RCV001254001; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:35704391352303121352303129:g.135230312G>T-
NM_015046.7(SETX):c.-124C>T23064SETXBenign/Likely benign114850064RCV001840788|RCV001166069|RCV001166070; NMedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352303131352303139:g.135230313G>A-
NM_015046.7(SETX):c.-154G>C23064SETXUncertain significance886063561RCV000280230|RCV000335171; NMONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:3570439135230343135230343NC_000009.11:g.135230343C>GClinGen:CA10632621CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_015046.5(SETX):c.-190G>A23064SETXUncertain significance1055615359RCV001166547|RCV001254002; NMONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:6475391352303791352303799:g.135230379C>T-
MSeqDR Portal