Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001195248.2(APTX):c.*858C>G | 54840 | APTX | Uncertain significance | 772290850 | RCV000355945|RCV001844143; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32972638 | 32972638 | | | NC_000009.11:g.32972638G>C | ClinGen:CA5022178 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.*851_*852del | 54840 | APTX | Likely benign | 377365362 | RCV000314782|RCV001844144; | N | MedGen:CN239212|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32972644 | 32972645 | | | NC_000009.11:g.32972645_32972646del | ClinGen:CA5022179 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.*834C>G | 54840 | APTX | Uncertain significance | 770908697 | RCV000325267|RCV001844145; | N | MedGen:CN239212|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32972662 | 32972662 | | | NC_000009.11:g.32972662G>C | ClinGen:CA5022182 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.*806G>A | 54840 | APTX | Conflicting interpretations of pathogenicity | 113556331 | RCV000366064|RCV001844146|RCV001861349; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 32972690 | 32972690 | | | NC_000009.11:g.32972690C>T | ClinGen:CA5022183 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.*605G>A | 54840 | APTX | Uncertain significance | 545625482 | RCV000286856|RCV001844147; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32972891 | 32972891 | | | NC_000009.11:g.32972891C>T | ClinGen:CA5022190 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.771-12dup | 54840 | APTX | Benign | 34600530 | RCV000199367|RCV000310585|RCV001511842|RCV001553841|RCV001844082; | N | MedGen:CN169374|MedGen:CN239212|MedGen:C3661900|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32974570 | 32974571 | | | | ClinGen:CA323907 | | |
NM_001195248.2(APTX):c.742T>C (p.Leu248=) | 54840 | APTX | Uncertain significance | 141195622 | RCV000267173|RCV001844148; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32984657 | 32984657 | | | 9:g.32984657A>G | ClinGen:CA10627233 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) | 54840 | APTX | Uncertain significance | 142133683 | RCV000372390|RCV000999149|RCV001844149; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32984659 | 32984659 | | | 9:g.32984659C>T | ClinGen:CA5022336 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.484-25_484-5del | 54840 | APTX | Benign/Likely benign | 200922655 | RCV000179561|RCV000319013|RCV000676810|RCV000999774|RCV001844073; | N | MedGen:CN169374|MedGen:CN239212|MedGen:C3661900|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32986033 | 32986053 | | | 9:g.32986033_32986053del | ClinGen:CA203350 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.484-12_484-11insG | 54840 | APTX | Benign/Likely benign | 377129152 | RCV000293319|RCV001672727|RCV001726148|RCV001844150; | N | MedGen:CN239212|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32986039 | 32986040 | | | 9:g.32986039_32986040insC | ClinGen:CA5022418 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.484-13G>T | 54840 | APTX | Benign/Likely benign | 10123944 | RCV000123681|RCV000289641|RCV001478458|RCV001844043; | N | MedGen:CN169374|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32986041 | 32986041 | | | 9:g.32986041C>A | ClinGen:CA289504 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) | 54840 | APTX | Uncertain significance | 886063858 | RCV000390070|RCV001844151|RCV002523789; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 32987650 | 32987650 | | | 9:g.32987650T>A | ClinGen:CA10627234 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.134-12A>C | 54840 | APTX | Conflicting interpretations of pathogenicity | 113391831 | RCV000305808|RCV000614999|RCV001844152|RCV002058798; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 32988139 | 32988139 | | | NC_000009.11:g.32988139T>G | ClinGen:CA5022603 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) | 54840 | APTX | Uncertain significance | 117041645 | RCV000261003|RCV001844153; | N | MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 32989810 | 32989810 | | | NC_000009.11:g.32989810A>G | ClinGen:CA5022659 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) | 54840 | APTX | Uncertain significance | 144076460 | RCV000200146|RCV000357224|RCV001844083|RCV002517195; | N | MedGen:C3661900|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920, Orphanet:1168|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 32989872 | 32989872 | | | NC_000009.11:g.32989872C>A | ClinGen:CA324705 | CN239198 Ataxia with Oculomotor Apraxia; | |
NM_015046.7(SETX):c.*2753G>A | 23064 | SETX | Uncertain significance | 886063542 | RCV000340744|RCV000383608; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135136873 | 135136873 | | | NC_000009.11:g.135136873C>T | ClinGen:CA10629178 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2639T>C | 23064 | SETX | Uncertain significance | 886063543 | RCV000291603|RCV000344392; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135136987 | 135136987 | | | NC_000009.11:g.135136987A>G | ClinGen:CA10632560 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2610T>G | 23064 | SETX | Uncertain significance | 530469492 | RCV000314097|RCV000392179; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137016 | 135137016 | | | NC_000009.11:g.135137016A>C | ClinGen:CA10626610 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2576_*2577del | 23064 | SETX | Uncertain significance | 886063544 | RCV000352509|RCV001844138; | N | MedGen:CN239175|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137049 | 135137050 | | | NC_000009.11:g.135137052_135137053del | ClinGen:CA10632875 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2506T>C | 23064 | SETX | Benign/Likely benign | 73545065 | RCV000313016|RCV000356139; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137120 | 135137120 | | | NC_000009.11:g.135137120A>G | ClinGen:CA10626611 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2384T>A | 23064 | SETX | Uncertain significance | 570456500 | RCV001166866|RCV001166867; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137242 | 135137242 | | | 9:g.135137242A>T | - | | |
NM_015046.7(SETX):c.*2287T>C | 23064 | SETX | Uncertain significance | 1842428001 | RCV001166868|RCV001166869; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137339 | 135137339 | | | 9:g.135137339A>G | - | | |
NM_015046.7(SETX):c.*2262A>G | 23064 | SETX | Benign | 997784 | RCV000259343|RCV000300482|RCV001675882; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135137364 | 135137364 | | | NC_000009.11:g.135137364T>C | ClinGen:CA10626615 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2232T>C | 23064 | SETX | Benign/Likely benign | 545456048 | RCV000265113|RCV000355287; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137394 | 135137394 | | | NC_000009.11:g.135137394A>G | ClinGen:CA10632876 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2190A>G | 23064 | SETX | Conflicting interpretations of pathogenicity | 531640605 | RCV001168578|RCV001168579; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137436 | 135137436 | | | 9:g.135137436T>C | - | | |
NM_015046.7(SETX):c.*2136A>T | 23064 | SETX | Uncertain significance | 886063545 | RCV000320309|RCV000379463; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137490 | 135137490 | | | NC_000009.11:g.135137490T>A | ClinGen:CA10632880 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2065dup | 23064 | SETX | Uncertain significance | 886063546 | RCV000326054|RCV001844139; | N | MedGen:CN239175|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137560 | 135137561 | | | NC_000009.11:g.135137561dup | ClinGen:CA10632563 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*2016G>A | 23064 | SETX | Uncertain significance | 752950104 | RCV001168580|RCV001168581; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137610 | 135137610 | | | 9:g.135137610C>T | - | | |
NM_015046.7(SETX):c.*2015C>T | 23064 | SETX | Uncertain significance | 552487555 | RCV001168582|RCV001168583; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137611 | 135137611 | | | 9:g.135137611G>A | - | | |
NM_015046.7(SETX):c.*2002A>G | 23064 | SETX | Uncertain significance | 886063547 | RCV000290702|RCV000385225; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137624 | 135137624 | | | NC_000009.11:g.135137624T>C | ClinGen:CA10632567 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1987T>C | 23064 | SETX | Uncertain significance | 1589593075 | RCV001169348|RCV001169347; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137639 | 135137639 | | | 9:g.135137639A>G | - | | |
NM_015046.7(SETX):c.*1803G>A | 23064 | SETX | Conflicting interpretations of pathogenicity | 556145432 | RCV001169349|RCV001169350; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137823 | 135137823 | | | 9:g.135137823C>T | - | | |
NM_015046.7(SETX):c.*1800C>T | 23064 | SETX | Uncertain significance | 147200829 | RCV001169351|RCV001169352; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137826 | 135137826 | | | 9:g.135137826G>A | - | | |
NM_015046.7(SETX):c.*1722A>G | 23064 | SETX | Uncertain significance | 963398615 | RCV001166411|RCV001166410; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135137904 | 135137904 | | | 9:g.135137904T>C | - | | |
NM_015046.7(SETX):c.*1713C>T | 23064 | SETX | Uncertain significance | 771853459 | RCV000350358|RCV000386241; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137913 | 135137913 | | | NC_000009.11:g.135137913G>A | ClinGen:CA10632568 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1700G>T | 23064 | SETX | Benign/Likely benign | 75682594 | RCV000296663|RCV000351268|RCV001778952; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135137926 | 135137926 | | | NC_000009.11:g.135137926C>A | ClinGen:CA10632569 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1688A>G | 23064 | SETX | Uncertain significance | 773351268 | RCV001166412|RCV001166413; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135137938 | 135137938 | | | 9:g.135137938T>C | - | | |
NM_015046.7(SETX):c.*1534G>A | 23064 | SETX | Uncertain significance | 886063548 | RCV000297443|RCV000398411; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138092 | 135138092 | | | NC_000009.11:g.135138092C>T | ClinGen:CA10629181 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1523A>G | 23064 | SETX | Uncertain significance | 758582946 | RCV000338393|RCV000393989; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138103 | 135138103 | | | NC_000009.11:g.135138103T>C | ClinGen:CA10632881 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1494A>G | 23064 | SETX | Uncertain significance | 1327797847 | RCV001166943|RCV001166944; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138132 | 135138132 | | | 9:g.135138132T>C | - | | |
NM_015046.7(SETX):c.*1487A>G | 23064 | SETX | Uncertain significance | 1842460355 | RCV001166945|RCV001166946; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138139 | 135138139 | | | 9:g.135138139T>C | - | | |
NM_015046.7(SETX):c.*1454C>G | 23064 | SETX | Uncertain significance | 561712582 | RCV000303464|RCV000358354; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138172 | 135138172 | | | NC_000009.11:g.135138172G>C | ClinGen:CA10632882 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1442T>G | 23064 | SETX | Uncertain significance | 886063549 | RCV000304202|RCV000405220; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138184 | 135138184 | | | NC_000009.11:g.135138184A>C | ClinGen:CA10626616 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1433A>T | 23064 | SETX | Uncertain significance | 886063550 | RCV000268837|RCV000363573; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138193 | 135138193 | | | NC_000009.11:g.135138193T>A | ClinGen:CA10632883 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1420A>T | 23064 | SETX | Uncertain significance | 751833631 | RCV001168660|RCV001168661; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138206 | 135138206 | | | 9:g.135138206T>A | - | | |
NM_015046.7(SETX):c.*1370G>C | 23064 | SETX | Benign | 116822064 | RCV001169424|RCV001169425; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138256 | 135138256 | | | 9:g.135138256C>G | - | | |
NM_015046.7(SETX):c.*1368G>A | 23064 | SETX | Benign | 7025 | RCV000328543|RCV000364540; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138258 | 135138258 | | | NC_000009.11:g.135138258C>T | ClinGen:CA10632573 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1365G>T | 23064 | SETX | Benign | 7875801 | RCV000274615|RCV000329618; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138261 | 135138261 | | | NC_000009.11:g.135138261C>A | ClinGen:CA10626618 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1288T>C | 23064 | SETX | Benign | 72765812 | RCV000294988|RCV000388856; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138338 | 135138338 | | | NC_000009.11:g.135138338A>G | ClinGen:CA10626619 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1233A>G | 23064 | SETX | Uncertain significance | 1388263414 | RCV001166482|RCV001166483; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138393 | 135138393 | | | 9:g.135138393T>C | - | | |
NM_015046.7(SETX):c.*1224G>C | 23064 | SETX | Benign | 10491906 | RCV000317243|RCV000371968; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138402 | 135138402 | | | NC_000009.11:g.135138402C>G | ClinGen:CA10632576 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1148T>G | 23064 | SETX | Benign | 138991890 | RCV001166484|RCV001166485; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138478 | 135138478 | | | 9:g.135138478A>C | - | | |
NM_015046.7(SETX):c.*1148T>C | 23064 | SETX | Uncertain significance | 138991890 | RCV001166486|RCV001166487; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138478 | 135138478 | | | 9:g.135138478A>G | - | | |
NM_015046.7(SETX):c.*1052T>A | 23064 | SETX | Benign | 12349210 | RCV000282127|RCV000336907; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138574 | 135138574 | | | NC_000009.11:g.135138574A>T | ClinGen:CA10626620 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*1050A>C | 23064 | SETX | Uncertain significance | 1842477894 | RCV001167011|RCV001167010; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135138576 | 135138576 | | | 9:g.135138576T>G | - | | |
NM_015046.7(SETX):c.*988G>A | 23064 | SETX | Uncertain significance | 182693244 | RCV000283206|RCV000400001; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138638 | 135138638 | | | NC_000009.11:g.135138638C>T | ClinGen:CA10626623 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*905A>G | 23064 | SETX | Benign/Likely benign | 58327306 | RCV000342852|RCV000408178; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138721 | 135138721 | | | NC_000009.11:g.135138721T>C | ClinGen:CA10629203 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*891T>C | 23064 | SETX | Uncertain significance | 573743210 | RCV000306944|RCV000366163; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138735 | 135138735 | | | NC_000009.11:g.135138735A>G | ClinGen:CA10632884 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*869C>T | 23064 | SETX | Uncertain significance | 1354270999 | RCV001168721|RCV001168720; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138757 | 135138757 | | | 9:g.135138757G>A | - | | |
NM_015046.7(SETX):c.*849G>T | 23064 | SETX | Benign | 74975459 | RCV000312866|RCV000408186; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138777 | 135138777 | | | NC_000009.11:g.135138777C>A | ClinGen:CA10629227 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*717T>C | 23064 | SETX | Benign | 17148857 | RCV000277680|RCV000367475; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138909 | 135138909 | | | NC_000009.11:g.135138909A>G | ClinGen:CA10632888 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*666C>G | 23064 | SETX | Uncertain significance | 886063551 | RCV000332758|RCV000354933; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135138960 | 135138960 | | | NC_000009.11:g.135138960G>C | ClinGen:CA10626624 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*626C>T | 23064 | SETX | Benign | 11795382 | RCV000259416|RCV000319268; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139000 | 135139000 | | | NC_000009.11:g.135139000G>A | ClinGen:CA10632587 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*608G>C | 23064 | SETX | Uncertain significance | 528924481 | RCV001169487|RCV001169488; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139018 | 135139018 | | | 9:g.135139018C>G | - | | |
NM_015046.7(SETX):c.*562C>A | 23064 | SETX | Benign | 11787894 | RCV000283999|RCV000373909; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139064 | 135139064 | | | NC_000009.11:g.135139064G>T | ClinGen:CA10626627 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*561A>C | 23064 | SETX | Benign | 73661150 | RCV000320373|RCV000379556; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139065 | 135139065 | | | NC_000009.11:g.135139065T>G | ClinGen:CA10632596 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*548A>T | 23064 | SETX | Benign | 139883935 | RCV000285179|RCV000345809; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139078 | 135139078 | | | 9:g.135139078T>A | ClinGen:CA10632891 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*491G>A | 23064 | SETX | Uncertain significance | 1285017063 | RCV001165469|RCV001165470; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139135 | 135139135 | | | 9:g.135139135C>T | - | | |
NM_015046.7(SETX):c.*475A>C | 23064 | SETX | Benign/Likely benign | 60760878 | RCV001165471|RCV001165472|RCV001840786; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135139151 | 135139151 | | | 9:g.135139151T>G | - | | |
NM_015046.7(SETX):c.*431_*432del | 23064 | SETX | Benign/Likely benign | 112251805 | RCV000292123|RCV001653750|RCV001844140|RCV003233628; | N | MedGen:CN239175|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139194 | 135139195 | | | 9:g.135139194_135139195del | ClinGen:CA10626628 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*351G>T | 23064 | SETX | Benign/Likely benign | 117409290 | RCV000347038|RCV000391278|RCV001785605; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900 | 9 | 135139275 | 135139275 | | | 9:g.135139275C>A | ClinGen:CA10632892 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*319C>T | 23064 | SETX | Benign/Likely benign | 1056912 | RCV000312004|RCV000352775|RCV001556250; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135139307 | 135139307 | | | 9:g.135139307G>A | ClinGen:CA10632893 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*266A>G | 23064 | SETX | Conflicting interpretations of pathogenicity | 575959163 | RCV000298691|RCV000391273; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139360 | 135139360 | | | 9:g.135139360T>C | ClinGen:CA10626629 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.*254C>T | 23064 | SETX | Conflicting interpretations of pathogenicity | 11545230 | RCV001167068|RCV001167067|RCV001847182; | N | 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 | 9 | 135139372 | 135139372 | | | 9:g.135139372G>A | - | | |
NM_015046.7(SETX):c.*168C>T | 23064 | SETX | Benign/Likely benign | 115351494 | RCV001167643|RCV001167644; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139458 | 135139458 | | | 9:g.135139458G>A | - | | |
NM_015046.7(SETX):c.*13A>T | 23064 | SETX | Uncertain significance | 1204954131 | RCV001167645|RCV001167646; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139613 | 135139613 | | | 9:g.135139613T>A | - | | |
NC_000009.12:g.(?_132264229)_(132349438_?)dup | 23064 | SETX | Uncertain significance | -1 | RCV001033808; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139616 | 135224825 | | | -1 | - | | |
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) | 23064 | SETX | Uncertain significance | 749325764 | RCV000795479; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139629 | 135139629 | | | 9:g.135139629T>A | - | | |
NM_015046.7(SETX):c.8030dup (p.Leu2677fs) | 23064 | SETX | Uncertain significance | -1 | RCV002894996; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139629 | 135139630 | | | NC_000009.11:g.135139633dup | - | | |
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs) | 23064 | SETX | Uncertain significance | -1 | RCV002943636; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139635 | 135139638 | | | NC_000009.11:g.135139635CTTT[1] | - | | |
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) | 23064 | SETX | Benign/Likely benign | 143798689 | RCV000992960|RCV001053419|RCV003233913|RCV003233914; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135139669 | 135139669 | | | 9:g.135139669A>G | - | | |
NM_015046.7(SETX):c.7990C>T (p.Leu2664=) | 23064 | SETX | Likely benign | 200826214 | RCV001395295; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139670 | 135139670 | | | 135139670 | - | | |
NM_015046.7(SETX):c.7984del (p.Arg2662fs) | 23064 | SETX | Uncertain significance | 2131109788 | RCV001979269; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139676 | 135139676 | | | 135139675 | - | | |
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 199921065 | RCV001044932|RCV002261259|RCV002409408; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 135139678 | 135139678 | | | 9:g.135139678T>C | - | | |
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) | 23064 | SETX | Uncertain significance | 567672087 | RCV001509368|RCV002421162|RCV003234071|RCV003399267|RCV003234072; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139681 | 135139681 | | | 135139681 | - | | |
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | 779793402 | RCV001243506|RCV001509369; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202 | 9 | 135139688 | 135139688 | | | 9:g.135139688T>C | - | | |
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) | 23064 | SETX | Conflicting interpretations of pathogenicity | 745394467 | RCV001812480|RCV002418877|RCV003234023|RCV003234022; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139693 | 135139693 | | | 135139693 | - | | |
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs) | 23064 | SETX | Uncertain significance | -1 | RCV002416846|RCV003234195|RCV003103460|RCV003234194; | N | MeSH: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:C18537 | 9 | 135139699 | 135139712 | | | 135139698 | - | | |
NM_015046.7(SETX):c.7944C>T (p.Ser2648=) | 23064 | SETX | Benign | -1 | RCV002917204; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139716 | 135139716 | | | | - | | |
NM_015046.7(SETX):c.7941T>C (p.Gly2647=) | 23064 | SETX | Likely benign | 1471003365 | RCV001505901; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139719 | 135139719 | | | 9:g.135139719A>G | - | | |
NM_015046.7(SETX):c.7926G>A (p.Glu2642=) | 23064 | SETX | Likely benign | 147986724 | RCV001502269; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139734 | 135139734 | | | 9:g.135139734C>T | - | | |
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 80296256 | RCV000263441|RCV000353602|RCV000876067|RCV001081221|RCV001700364; | N | 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:C1865409,OMIM:602433 | 9 | 135139746 | 135139746 | | | 9:g.135139746G>A | ClinGen:CA5296290 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val) | 23064 | SETX | Benign | 144706487 | RCV001053416; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139748 | 135139748 | | | 9:g.135139748A>C | - | | |
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) | 23064 | SETX | Benign/Likely benign | 112201716 | RCV000549819|RCV001569094|RCV001662569|RCV003233739|RCV003233740; | N | MONDO: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:C186 | 9 | 135139755 | 135139755 | | | 9:g.135139755G>A | ClinGen:CA5296292 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002416595|RCV003120965; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139765 | 135139765 | | | 135139765 | - | | |
NM_015046.7(SETX):c.7881G>A (p.Glu2627=) | 23064 | SETX | Likely benign | -1 | RCV002958009; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139779 | 135139779 | | | | - | | |
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) | 23064 | SETX | Likely benign | 536241867 | RCV001089092|RCV000876972|RCV003233884|RCV003233883; | N | MONDO: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:60600 | 9 | 135139785 | 135139785 | | | 9:g.135139785C>T | - | | |
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 553413088 | RCV000299852|RCV000359404|RCV001662350|RCV003372694; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 135139786 | 135139786 | | | 9:g.135139786G>A | ClinGen:CA5296299 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 141589525 | RCV000537182|RCV001662568|RCV002461309|RCV002413562; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 135139790 | 135139790 | | | NC_000009.11:g.135139790C>A | ClinGen:CA5296301 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) | 23064 | SETX | Uncertain significance | 778362262 | RCV001910223; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139800 | 135139800 | | | 135139800 | - | | |
NM_015046.7(SETX):c.7857G>A (p.Gln2619=) | 23064 | SETX | Likely benign | -1 | RCV002872158; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139803 | 135139803 | | | | - | | |
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1421049695 | RCV002227352|RCV002409625|RCV003234170|RCV003234169; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139804 | 135139804 | | | 135139804 | - | | |
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 747616517 | RCV001169541|RCV001169540|RCV001428326; | N | 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:606002, Orphanet:64753 | 9 | 135139809 | 135139809 | | | 9:g.135139809C>T | - | | |
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr) | 23064 | SETX | Uncertain significance | 979454428 | RCV001944748; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139817 | 135139817 | | | 135139817 | - | | |
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV003082971|RCV003312075; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900 | 9 | 135139820 | 135139820 | | | NC_000009.11:g.135139820C>T | - | | |
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) | 23064 | SETX | Benign | 3739927 | RCV000176675|RCV000264707|RCV000324607|RCV000713233|RCV001512044; | N | MedGen: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:C186 | 9 | 135139826 | 135139826 | | | 9:g.135139826T>C | ClinGen:CA202060,UniProtKB:Q7Z333#VAR_018793 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) | 23064 | SETX | Uncertain significance | 765888424 | RCV000268907|RCV000379200; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139835 | 135139835 | | | NC_000009.11:g.135139835G>C | ClinGen:CA10632900 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) | 23064 | SETX | Benign/Likely benign | 764270386 | RCV000992959|RCV002550649|RCV003233912|RCV003233911; | N | MedGen: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:60600 | 9 | 135139842 | 135139842 | | | 9:g.135139842G>A | - | | |
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) | 23064 | SETX | Conflicting interpretations of pathogenicity | 543247171 | RCV000328640|RCV000383186|RCV000699627|RCV000999251; | N | 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:602433, Orphanet:357043 | 9 | 135139846 | 135139846 | | | 9:g.135139846C>T | ClinGen:CA5296314 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7810G>A (p.Val2604Met) | 23064 | SETX | Uncertain significance | 757554863 | RCV001364479; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139850 | 135139850 | | | 135139850 | - | | |
NM_015046.7(SETX):c.7809C>T (p.Pro2603=) | 23064 | SETX | Likely benign | 766063614 | RCV001463054; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139851 | 135139851 | | | 135139851 | - | | |
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200507089 | RCV000293531|RCV000348329|RCV002523741|RCV002411265; | N | 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:602433, Orphanet:357043 | 9 | 135139873 | 135139873 | | | NC_000009.11:g.135139873G>A | ClinGen:CA5296324 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala) | 23064 | SETX | Uncertain significance | 905773255 | RCV001897756; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139882 | 135139882 | | | 135139882 | - | | |
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1842534708 | RCV001165532|RCV001165533|RCV002264210; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135139885 | 135139885 | | | 9:g.135139885G>A | - | | |
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) | 23064 | SETX | Uncertain significance | 146862359 | RCV001165534|RCV001165535; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139889 | 135139889 | | | 9:g.135139889C>T | - | | |
NM_015046.7(SETX):c.7770C>T (p.Pro2590=) | 23064 | SETX | Likely benign | 532828022 | RCV001434599; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139890 | 135139890 | | | 9:g.135139890G>A | - | | |
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer) | 23064 | SETX | Uncertain significance | 2131111712 | RCV002025046; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139895 | 135139896 | | | 135139895 | - | | |
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg) | 23064 | SETX | Uncertain significance | -1 | RCV002851578; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139897 | 135139897 | | | NC_000009.11:g.135139897T>C | - | | |
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) | 23064 | SETX | Benign | 1056899 | RCV000081702|RCV000294610|RCV000388921|RCV000713232|RCV001522459; | N | MedGen: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:C18 | 9 | 135139901 | 135139901 | | | 9:g.135139901T>C | ClinGen:CA148730,UniProtKB:Q7Z333#VAR_018792 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) | 23064 | SETX | Uncertain significance | 1842537896 | RCV001167129|RCV001167130; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139910 | 135139910 | | | 9:g.135139910G>A | - | | |
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) | 23064 | SETX | Likely benign | 754701648 | RCV000516595|RCV002060259|RCV002404332|RCV003233698|RCV003233699; | N | MedGen: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:001122 | 9 | 135139911 | 135139911 | | | 9:g.135139911G>A | ClinGen:CA5296335 | CN169374 not specified; | |
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) | 23064 | SETX | Benign/Likely benign | 530686162 | RCV001288749|RCV002541794|RCV003234027|RCV003234028; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135139919 | 135139919 | | | 135139919 | - | | |
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) | 23064 | SETX | Conflicting interpretations of pathogenicity | 370366576 | RCV000518348|RCV002404331|RCV003233697|RCV003233696; | N | MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139922 | 135139922 | | | NC_000009.11:g.135139922C>T | ClinGen:CA5296340 | CN169374 not specified; | |
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly) | 23064 | SETX | Uncertain significance | 2131112014 | RCV001896503; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139924 | 135139924 | | | 135139924 | - | | |
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) | 23064 | SETX | Conflicting interpretations of pathogenicity | 144121978 | RCV000335520|RCV000399643|RCV001509370|RCV001861344|RCV002402087; | N | MONDO: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:60600 | 9 | 135139925 | 135139925 | | | NC_000009.11:g.135139925C>T | ClinGen:CA5296343 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe) | 23064 | SETX | Conflicting interpretations of pathogenicity | 144121978 | RCV001509371|RCV001865960|RCV002568009; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135139925 | 135139925 | | | 135139925 | - | | |
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) | 23064 | SETX | Likely benign | 201695580 | RCV001498846|RCV002071876|RCV003234069|RCV003234070; | N | 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:C1865409,OMIM:602433 | 9 | 135139935 | 135139935 | | | 135139935 | - | | |
NM_015046.7(SETX):c.7725G>C (p.Pro2575=) | 23064 | SETX | Likely benign | -1 | RCV002908360; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139935 | 135139935 | | | | - | | |
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 34000644 | RCV000300843|RCV000337112|RCV000556745|RCV000507046|RCV001643105|RCV001848723|RCV002402088; | N | 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:602433, Orphanet:357043 | 9 | 135139936 | 135139936 | | | NC_000009.11:g.135139936G>A | ClinGen:CA5296347 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys) | 23064 | SETX | Conflicting interpretations of pathogenicity | 145345675 | RCV001816518|RCV002541948; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139940 | 135139940 | | | 135139940 | - | | |
NM_015046.7(SETX):c.7716G>A (p.Thr2572=) | 23064 | SETX | Benign | -1 | RCV002908641; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139944 | 135139944 | | | | - | | |
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) | 23064 | SETX | Likely benign | 773364996 | RCV001243333; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139945 | 135139945 | | | 9:g.135139945G>A | - | | |
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) | 23064 | SETX | Uncertain significance | 770590408 | RCV000517452|RCV000544223|RCV003233694|RCV003233695; | N | MedGen: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:602433 | 9 | 135139947 | 135139949 | | | 9:g.135139947_135139949del | ClinGen:CA5296353 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7713T>C (p.Pro2571=) | 23064 | SETX | Likely benign | 2131112226 | RCV001414969; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139947 | 135139947 | | | 135139947 | - | | |
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser) | 23064 | SETX | Uncertain significance | 1240232139 | RCV000644818; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135139952 | 135139952 | | | 9:g.135139952G>A | ClinGen:CA375323518 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 147705644 | RCV001365341|RCV002404871|RCV003128783; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 9 | 135139978 | 135139978 | | | 135139978 | - | | |
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg) | 23064 | SETX | Benign | 756715534 | RCV001320464; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135139994 | 135139994 | | | 135139994 | - | | |
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) | 23064 | SETX | Conflicting interpretations of pathogenicity | 368269464 | RCV000644827|RCV003403489|RCV002388094; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MeSH:D030342,MedGen:C0950123 | 9 | 135140000 | 135140000 | | | NC_000009.11:g.135140000A>T | ClinGen:CA5296362 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 368269464 | RCV000689472|RCV002473108; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202 | 9 | 135140000 | 135140000 | | | NC_000009.11:g.135140000A>G | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) | 23064 | SETX | Uncertain significance | 1842546596 | RCV001167706|RCV001167707; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140012 | 135140012 | | | 9:g.135140012T>C | - | | |
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter) | 23064 | SETX | Uncertain significance | 1039417117 | RCV001957009; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140018 | 135140019 | | | 135140018 | - | | |
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 151117904 | RCV000143819|RCV000251546|RCV000302102|RCV000393538|RCV001080640|RCV001260210|RCV001847770; | N | MedGen: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:C186 | 9 | 135140020 | 135140020 | | | 9:g.135140020A>G | ClinGen:CA233108,UniProtKB:Q7Z333#VAR_071688 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7637del (p.Gly2546fs) | 23064 | SETX | Uncertain significance | -1 | RCV003020584; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140023 | 135140023 | | | NC_000009.11:g.135140025del | - | | |
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys) | 23064 | SETX | Uncertain significance | -1 | RCV003020585; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140026 | 135140026 | | | NC_000009.11:g.135140026A>T | - | | |
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg) | 23064 | SETX | Uncertain significance | 2131113093 | RCV001980635; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140050 | 135140050 | | | 135140050 | - | | |
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr) | 23064 | SETX | Uncertain significance | 202121071 | RCV001041585; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140063 | 135140063 | | | 9:g.135140063G>A | - | | |
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) | 23064 | SETX | Likely benign | 1374204163 | RCV000544597|RCV002395413|RCV003233738|RCV003233737; | N | MONDO: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:C18537 | 9 | 135140070 | 135140070 | | | NC_000009.11:g.135140070A>T | ClinGen:CA467504947 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly) | 23064 | SETX | Uncertain significance | -1 | RCV003021273; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140075 | 135140075 | | | NC_000009.11:g.135140075T>C | - | | |
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp) | 23064 | SETX | Uncertain significance | 2131113303 | RCV001362804; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140076 | 135140076 | | | 135140076 | - | | |
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys) | 23064 | SETX | Uncertain significance | 2131113325 | RCV002022286; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140078 | 135140078 | | | 135140078 | - | | |
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile) | 23064 | SETX | Likely benign | -1 | RCV003078977; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140092 | 135140092 | | | NC_000009.11:g.135140092G>A | - | | |
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val) | 23064 | SETX | Benign | -1 | RCV002926653; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140108 | 135140108 | | | NC_000009.11:g.135140108T>C | - | | |
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys) | 23064 | SETX | Uncertain significance | -1 | RCV002805799; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140111 | 135140111 | | | NC_000009.11:g.135140111C>T | - | | |
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) | 23064 | SETX | Uncertain significance | 557347174 | RCV000688915; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140126 | 135140126 | | | NC_000009.11:g.135140126G>A | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile) | 23064 | SETX | Benign | -1 | RCV002587099; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140128 | 135140128 | | | NC_000009.11:g.135140128G>A | - | | |
NM_015046.7(SETX):c.7530C>G (p.His2510Gln) | 23064 | SETX | Uncertain significance | 1303389955 | RCV001209320; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140130 | 135140130 | | | 9:g.135140130G>C | - | | |
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr) | 23064 | SETX | Benign | -1 | RCV002608859; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140132 | 135140132 | | | NC_000009.11:g.135140132G>A | - | | |
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1160553456 | RCV000713231|RCV001861987|RCV003338745; | N | MedGen: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 | 9 | 135140144 | 135140144 | | | NC_000009.11:g.135140144C>T | - | | |
NM_015046.7(SETX):c.7494A>C (p.Gly2498=) | 23064 | SETX | Likely benign | 1404779640 | RCV002187527; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140166 | 135140166 | | | 135140166 | - | | |
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 61735488 | RCV000516539|RCV000531955|RCV001509372|RCV002395238; | N | MedGen: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 | 9 | 135140170 | 135140170 | | | 9:g.135140170C>T | ClinGen:CA5296378 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu) | 23064 | SETX | Uncertain significance | -1 | RCV002391531|RCV002464658|RCV003234193|RCV003234192; | N | MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140172 | 135140172 | | | 135140172 | - | | |
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) | 23064 | SETX | Uncertain significance | 1564464193 | RCV000698547; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140178 | 135140178 | | | NC_000009.11:g.135140178C>G | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg) | 23064 | SETX | Uncertain significance | 755711135 | RCV001871125|RCV003164238; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135140179 | 135140179 | | | 135140179 | - | | |
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr) | 23064 | SETX | Uncertain significance | 1842557730 | RCV001238059; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140185 | 135140185 | | | 9:g.135140185C>G | - | | |
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) | 23064 | SETX | Likely benign | 1173009713 | RCV001311795|RCV002071868|RCV003234036|RCV003234037; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135140187 | 135140187 | | | 135140187 | - | | |
NM_015046.7(SETX):c.7461G>C (p.Gln2487His) | 23064 | SETX | Uncertain significance | -1 | RCV003031548; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140199 | 135140199 | | | NC_000009.11:g.135140199C>G | - | | |
NM_015046.7(SETX):c.7458C>G (p.Pro2486=) | 23064 | SETX | Likely benign | 2131114205 | RCV002187520; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140202 | 135140202 | | | 135140202 | - | | |
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002385128|RCV003099642; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140206 | 135140206 | | | 135140206 | - | | |
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg) | 23064 | SETX | Likely pathogenic | 183776349 | RCV001977831; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140213 | 135140213 | | | 135140213 | - | | |
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys) | 23064 | SETX | Uncertain significance | 2131114345 | RCV002024028; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140216 | 135140216 | | | 135140216 | - | | |
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 376524608 | RCV001324450|RCV002546112; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135140221 | 135140221 | | | 135140221 | - | | |
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) | 23064 | SETX | Uncertain significance | 771027936 | RCV000644813; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140227 | 135140227 | | | NC_000009.11:g.135140227G>C | ClinGen:CA375325541 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 142303658 | RCV000518280|RCV000624322|RCV000764810|RCV001731743|RCV001702669; | N | MedGen: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:C3661900 | 9 | 135140228 | 135140228 | | | 9:g.135140228T>C | ClinGen:CA5296390 | C0950123 Inborn genetic diseases; | |
NM_015046.7(SETX):c.7427C>A (p.Pro2476His) | 23064 | SETX | Uncertain significance | 767515528 | RCV002020624; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140233 | 135140233 | | | 135140233 | - | | |
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) | 23064 | SETX | Uncertain significance | 760196991 | RCV000585562|RCV001860112|RCV003420021|RCV003233754|RCV003233755; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:60243 | 9 | 135140243 | 135140243 | | | 9:g.135140243G>C | ClinGen:CA5296396 | CN517202 not provided; | |
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) | 23064 | SETX | Uncertain significance | 1382990384 | RCV000644829|RCV003140032; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202 | 9 | 135140247 | 135140247 | | | 9:g.135140247T>A | ClinGen:CA375325625 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) | 23064 | SETX | Conflicting interpretations of pathogenicity | 151304085 | RCV000266732|RCV000361458|RCV002524586|RCV002379256; | N | 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:606002, Orphanet:64753 | 9 | 135140254 | 135140254 | | | NC_000009.11:g.135140254A>G | ClinGen:CA5296398 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) | 23064 | SETX | Uncertain significance | 1182285610 | RCV001167708|RCV001167709; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140285 | 135140285 | | | 9:g.135140285C>T | - | | |
NM_015046.7(SETX):c.7371T>C (p.His2457=) | 23064 | SETX | Benign/Likely benign | 113071480 | RCV000307888|RCV000362769|RCV000556056|RCV001083549|RCV002379257|RCV001848724; | N | 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:C1865409,OMIM:602433 | 9 | 135140289 | 135140289 | | | NC_000009.11:g.135140289A>G | ClinGen:CA5296400 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7370A>G (p.His2457Arg) | 23064 | SETX | Uncertain significance | 753051382 | RCV001903750; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140290 | 135140290 | | | 135140290 | - | | |
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu) | 23064 | SETX | Uncertain significance | -1 | RCV002959175; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140321 | 135140321 | | | NC_000009.11:g.135140321T>G | - | | |
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) | 23064 | SETX | Conflicting interpretations of pathogenicity | 372535542 | RCV000778875|RCV001169582|RCV002386359; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135140330 | 135140330 | | | NC_000009.11:g.135140330G>A | - | | |
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) | 23064 | SETX | Uncertain significance | 1564464665 | RCV000680096; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140351 | 135140351 | | | 9:g.135140351G>C | - | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.7292dup (p.Asn2431fs) | 23064 | SETX | Pathogenic | 2131115543 | RCV001647241; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140367 | 135140368 | | | 135140367 | - | | |
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) | 23064 | SETX | Uncertain significance | 912160285 | RCV001169584|RCV001169583; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140370 | 135140370 | | | 9:g.135140370T>A | - | | |
NM_015046.7(SETX):c.7288-14C>T | 23064 | SETX | Likely benign | -1 | RCV002781209; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135140386 | 135140386 | | | NC_000009.11:g.135140386G>A | - | | |
NM_015046.7(SETX):c.7288-19C>T | 23064 | SETX | Likely benign | 368143983 | RCV002190078; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135140391 | 135140391 | | | 135140391 | - | | |
NM_015046.7(SETX):c.7287+207C>T | 23064 | SETX | Likely benign | 45490698 | RCV001577272|RCV003234082|RCV003234083; | N | MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135144795 | 135144795 | | | 135144795 | - | | |
NM_015046.7(SETX):c.7287+9C>A | 23064 | SETX | Conflicting interpretations of pathogenicity | 769170686 | RCV000272756|RCV000327969|RCV002523742; | N | 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:602433, Orphanet:357043 | 9 | 135144993 | 135144993 | | | NC_000009.11:g.135144993G>T | ClinGen:CA5296454 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.7281C>G (p.Thr2427=) | 23064 | SETX | Likely benign | 1482971726 | RCV001417669; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135145008 | 135145008 | | | 135145008 | - | | |
NM_015046.7(SETX):c.7271A>G (p.His2424Arg) | 23064 | SETX | Uncertain significance | -1 | RCV002603851; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135145018 | 135145018 | | | NC_000009.11:g.135145018T>C | - | | |
NM_015046.7(SETX):c.7248G>A (p.Lys2416=) | 23064 | SETX | Likely benign | -1 | RCV002620998; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135145041 | 135145041 | | | | - | | |
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val) | 23064 | SETX | Likely benign | -1 | RCV002908494; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135145055 | 135145055 | | | NC_000009.11:g.135145055T>C | - | | |
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val) | 23064 | SETX | Uncertain significance | 1402767850 | RCV000690239; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135145085 | 135145085 | | | 9:g.135145085G>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7203C>T (p.Phe2401=) | 23064 | SETX | Benign | -1 | RCV003077423; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135145086 | 135145086 | | | | - | | |
NM_015046.7(SETX):c.7200-10dup | 23064 | SETX | Benign/Likely benign | 531485265 | RCV000555232|RCV001079150|RCV001848956|RCV003233733|RCV003233734; | N | MedGen: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:606002 | 9 | 135145098 | 135145099 | | | 9:g.135145098_135145099insA | ClinGen:CA5296464 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7200-11_7200-10del | 23064 | SETX | Conflicting interpretations of pathogenicity | 531485265 | RCV000508073|RCV000543498|RCV001088238; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135145099 | 135145100 | | | 9:g.135145099_135145100del | ClinGen:CA5296463 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7200-15T>C | 23064 | SETX | Likely benign | 754019832 | RCV002118502; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135145104 | 135145104 | | | 135145104 | - | | |
NM_015046.7(SETX):c.7199+17G>T | 23064 | SETX | Likely benign | 768161524 | RCV002129177; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135147080 | 135147080 | | | 135147080 | - | | |
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) | 23064 | SETX | Uncertain significance | 150489999 | RCV000992958|RCV001041927|RCV003233910|RCV003233909; | N | MedGen: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:60600 | 9 | 135147101 | 135147101 | | | 9:g.135147101T>C | - | | |
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe) | 23064 | SETX | Uncertain significance | 150489999 | RCV001210001; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135147101 | 135147101 | | | 9:g.135147101T>A | - | | |
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp) | 23064 | SETX | Uncertain significance | 2131148064 | RCV001955637; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135147106 | 135147106 | | | 135147106 | - | | |
NM_015046.7(SETX):c.7179T>C (p.Asn2393=) | 23064 | SETX | Benign | -1 | RCV003121420; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135147117 | 135147117 | | | | - | | |
NM_015046.7(SETX):c.7164G>C (p.Thr2388=) | 23064 | SETX | Likely benign | 368602563 | RCV002065626; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135147132 | 135147132 | | | 9:g.135147132C>G | - | | |
NM_015046.7(SETX):c.7164G>A (p.Thr2388=) | 23064 | SETX | Likely benign | 368602563 | RCV001455918; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135147132 | 135147132 | | | 135147132 | - | | |
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) | 23064 | SETX | Uncertain significance | 201887051 | RCV000992957|RCV002282419|RCV003233907|RCV003233908; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135147139 | 135147139 | | | 9:g.135147139A>G | - | | |
NM_015046.7(SETX):c.7146G>A (p.Lys2382=) | 23064 | SETX | Likely benign | 2131148463 | RCV002177485; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135147150 | 135147150 | | | 135147150 | - | | |
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) | 23064 | SETX | Conflicting interpretations of pathogenicity | 145397619 | RCV000518213|RCV000524648|RCV001814998|RCV003233692|RCV003233693; | N | MedGen: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:C186 | 9 | 135147157 | 135147157 | | | NC_000009.11:g.135147157C>T | ClinGen:CA5296494 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) | 23064 | SETX | Benign/Likely benign | 150673589 | RCV000242830|RCV000274061|RCV000333920|RCV000553059|RCV001529366|RCV001848036; | N | 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:C1865409,OMIM:602433 | 9 | 135147182 | 135147182 | | | NC_000009.11:g.135147182C>T | ClinGen:CA5296498 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) | 23064 | SETX | Uncertain significance | 1420833435 | RCV001001201|RCV002363533|RCV003233921|RCV003233922; | N | MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135147193 | 135147193 | | | 9:g.135147193G>C | - | | |
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) | 23064 | SETX | Benign/Likely benign | 79233884 | RCV000506543|RCV000540713|RCV001848877|RCV003233656|RCV003233657|RCV003431055; | N | 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|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002 | 9 | 135147195 | 135147195 | | | 9:g.135147195T>C | ClinGen:CA5296501 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7101-16T>C | 23064 | SETX | Uncertain significance | -1 | RCV002927530; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135147211 | 135147211 | | | NC_000009.11:g.135147211A>G | - | | |
NM_015046.7(SETX):c.7100+27A>G | 23064 | SETX | Benign | 2296865 | RCV000252677|RCV001660326|RCV003233532|RCV003233533; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135150616 | 135150616 | | | 9:g.135150616T>C | ClinGen:CA5296513 | CN169374 not specified; | |
NM_015046.7(SETX):c.7100+9T>C | 23064 | SETX | Conflicting interpretations of pathogenicity | 200088320 | RCV000713230|RCV001165604|RCV001087251|RCV001165603|RCV001848955; | N | MedGen: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:602433 | 9 | 135150634 | 135150634 | | | 9:g.135150634A>G | ClinGen:CA5296516 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.7100+7C>T | 23064 | SETX | Uncertain significance | -1 | RCV003001816; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135150636 | 135150636 | | | NC_000009.11:g.135150636G>A | - | | |
NM_015046.7(SETX):c.7100+3G>A | 23064 | SETX | Uncertain significance | 752203746 | RCV001165605|RCV001165606; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135150640 | 135150640 | | | 9:g.135150640C>T | - | | |
NM_015046.7(SETX):c.7100+2T>C | 23064 | SETX | Likely pathogenic | -1 | RCV003062238; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135150641 | 135150641 | | | NC_000009.11:g.135150641A>G | - | | |
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 144607919 | RCV000875363|RCV001088640; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135150651 | 135150651 | | | 9:g.135150651A>G | - | | |
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn) | 23064 | SETX | Benign | -1 | RCV002616880; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135150653 | 135150653 | | | NC_000009.11:g.135150653C>T | - | | |
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 141497098 | RCV000876529|RCV001165608|RCV001165607; | N | 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:602433, Orphanet:357043 | 9 | 135150654 | 135150654 | | | 9:g.135150654G>A | - | | |
NM_015046.7(SETX):c.7059G>A (p.Thr2353=) | 23064 | SETX | Likely benign | -1 | RCV002781294; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135150684 | 135150684 | | | | - | | |
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met) | 23064 | SETX | Benign | 201629099 | RCV001912890; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135150685 | 135150685 | | | 135150685 | - | | |
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) | 23064 | SETX | Likely benign | 141657462 | RCV001298228; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135150738 | 135150738 | | | 135150738 | - | | |
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu) | 23064 | SETX | Uncertain significance | 781671592 | RCV001372612; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135150773 | 135150773 | | | 135150773 | - | | |
NM_015046.7(SETX):c.6936-11A>G | 23064 | SETX | Benign | 146193654 | RCV002086839; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135150818 | 135150818 | | | 135150818 | - | | |
NM_015046.7(SETX):c.6936-27T>G | 23064 | SETX | Benign | 2296866 | RCV000247913|RCV001722328|RCV003233531|RCV003233530; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135150834 | 135150834 | | | NC_000009.11:g.135150834A>C | ClinGen:CA5296553 | CN169374 not specified; | |
NM_015046.7(SETX):c.6935+8T>C | 23064 | SETX | Benign | 17148873 | RCV000243147|RCV000278341|RCV000388449|RCV000576349|RCV001516018; | N | MedGen: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:C18 | 9 | 135152439 | 135152439 | | | 9:g.135152439A>G | ClinGen:CA5296571 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del) | 23064 | SETX | Uncertain significance | -1 | RCV003224767; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135152449 | 135152451 | | | | - | | |
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp) | 23064 | SETX | Uncertain significance | 1490101518 | RCV001314993; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135152457 | 135152457 | | | 135152457 | - | | |
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly) | 23064 | SETX | Likely benign | 370135596 | RCV000692093; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135152460 | 135152460 | | | NC_000009.11:g.135152460T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) | 23064 | SETX | Uncertain significance | 774458684 | RCV000332533|RCV000725420|RCV003233536|RCV003233537; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135152472 | 135152472 | | | 9:g.135152472C>A | ClinGen:CA5296581 | CN169374 not specified; | |
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) | 23064 | SETX | Pathogenic/Likely pathogenic | 1331217337 | RCV001009256|RCV002549297|RCV003233924; | N | MedGen: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 | 9 | 135152484 | 135152485 | | | 9:g.135152484_135152485insC | - | | |
NM_015046.7(SETX):c.6879A>G (p.Pro2293=) | 23064 | SETX | Benign | -1 | RCV002895518; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135152503 | 135152503 | | | | - | | |
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter) | 23064 | SETX | Likely pathogenic | 1339011741 | RCV001823516; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135152523 | 135152523 | | | 135152523 | - | | |
NM_015046.6(SETX):c.6848_6851delCAGA | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV000176318|RCV000686045|RCV000988267|RCV003233105; | N | 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:C1853761,OMIM:60600 | 9 | 135152531 | 135152534 | | | 9:g.135152531_135152534del | ClinGen:CA223172 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.6843-3_6843-1del | 23064 | SETX | Likely pathogenic | 1186690391 | RCV001040446; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135152540 | 135152542 | | | 9:g.135152540_135152542del | - | | |
NM_015046.7(SETX):c.6843-6_6843-5dup | 23064 | SETX | Conflicting interpretations of pathogenicity | 34769225 | RCV000373976|RCV000873863|RCV001545280|RCV001844141; | N | MedGen: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:64753 | 9 | 135152543 | 135152544 | | | NC_000009.11:g.135152554_135152555dup | ClinGen:CA5296591 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.6843-4A>T | 23064 | SETX | Conflicting interpretations of pathogenicity | 1466427179 | RCV001412584|RCV002368290; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135152543 | 135152543 | | | 135152543 | - | | |
NM_015046.7(SETX):c.6843-16dup | 23064 | SETX | Benign | 34769225 | RCV001512045|RCV001573690|RCV001528859|RCV003234073|RCV003234074; | N | MONDO: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:C186 | 9 | 135152543 | 135152544 | | | 135152543 | - | | |
NM_015046.7(SETX):c.6843-5del | 23064 | SETX | Benign | 34769225 | RCV001811560|RCV001579450|RCV002068748|RCV003233917|RCV003233918; | N | MedGen: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:C186 | 9 | 135152544 | 135152544 | | | 9:g.135152544_135152544del | - | | |
NM_015046.7(SETX):c.6843-5T>A | 23064 | SETX | Likely benign | 943904959 | RCV001422583; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135152544 | 135152544 | | | 135152544 | - | | |
NM_015046.7(SETX):c.6842+15T>A | 23064 | SETX | Likely benign | -1 | RCV002932933; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135153442 | 135153442 | | | NC_000009.11:g.135153442A>T | - | | |
NM_015046.7(SETX):c.6842+1G>T | 23064 | SETX | Likely pathogenic | 1038776365 | RCV001983771; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153456 | 135153456 | | | 135153456 | - | | |
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp) | 23064 | SETX | Uncertain significance | 1843269972 | RCV002037290; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135153461 | 135153461 | | | 135153461 | - | | |
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 189444354 | RCV000992954|RCV001167193|RCV001167194|RCV002550648; | N | 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:C1853761,OMIM:60600 | 9 | 135153470 | 135153470 | | | 9:g.135153470A>G | - | | |
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala) | 23064 | SETX | Uncertain significance | 1843271572 | RCV001229710; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153484 | 135153484 | | | 9:g.135153484A>G | - | | |
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser) | 23064 | SETX | Uncertain significance | -1 | RCV002912884; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153490 | 135153490 | | | NC_000009.11:g.135153490T>C | - | | |
NM_015046.7(SETX):c.6808A>C (p.Asn2270His) | 23064 | SETX | Uncertain significance | 1843272035 | RCV001347599; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153491 | 135153491 | | | 135153491 | - | | |
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr) | 23064 | SETX | Uncertain significance | 1421665944 | RCV001982434; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153494 | 135153494 | | | 135153494 | - | | |
NM_015046.7(SETX):c.6804T>A (p.Pro2268=) | 23064 | SETX | Likely benign | 145236863 | RCV002071669; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153495 | 135153495 | | | 135153495 | - | | |
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) | 23064 | SETX | Uncertain significance | 148041889 | RCV000144866|RCV002515947; | N | MONDO: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:64753 | 9 | 135153507 | 135153507 | | | NC_000009.11:g.135153507T>C | ClinGen:CA270929 | C0007959 Charcot-Marie-Tooth disease; | |
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu) | 23064 | SETX | Uncertain significance | 1843274414 | RCV002012977; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135153509 | 135153509 | | | 135153509 | - | | |
NM_015046.7(SETX):c.6771G>A (p.Gln2257=) | 23064 | SETX | Likely benign | 778895541 | RCV000874778; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153528 | 135153528 | | | 9:g.135153528C>T | - | | |
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile) | 23064 | SETX | Uncertain significance | -1 | RCV003030640; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135153535 | 135153535 | | | NC_000009.11:g.135153535G>A | - | | |
NM_015046.7(SETX):c.6762C>T (p.Leu2254=) | 23064 | SETX | Likely benign | 1225106822 | RCV001416568; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153537 | 135153537 | | | 9:g.135153537G>A | - | | |
NM_015046.7(SETX):c.6733A>G (p.Met2245Val) | 23064 | SETX | Uncertain significance | -1 | RCV002369176|RCV003098350|RCV003234189|RCV003234190; | N | 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|MONDO:MONDO:0011223,MedGen:C186540 | 9 | 135153566 | 135153566 | | | 135153566 | - | | |
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) | 23064 | SETX | Pathogenic/Likely pathogenic | 752122764 | RCV000992953|RCV002363518|RCV003233906; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153569 | 135153570 | | | 9:g.135153569_135153570del | - | | |
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys) | 23064 | SETX | Uncertain significance | 2131182464 | RCV001884469; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153587 | 135153587 | | | 135153587 | - | | |
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys) | 23064 | SETX | Likely pathogenic | 759299299 | RCV002052234; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153605 | 135153605 | | | 135153605 | - | | |
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu) | 23064 | SETX | Benign | 752107891 | RCV001343369; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153621 | 135153621 | | | 135153621 | - | | |
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn) | 23064 | SETX | Benign | -1 | RCV002586250; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153623 | 135153623 | | | NC_000009.11:g.135153623C>T | - | | |
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200382898 | RCV000281744|RCV000339149|RCV002365438; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135153624 | 135153624 | | | NC_000009.11:g.135153624G>A | ClinGen:CA5296643 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys) | 23064 | SETX | Conflicting interpretations of pathogenicity | 747913385 | RCV001214631|RCV003313191; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202 | 9 | 135153631 | 135153631 | | | 9:g.135153631T>C | - | | |
NM_015046.7(SETX):c.6655-24G>A | 23064 | SETX | Benign | 11243704 | RCV000250557|RCV001636798|RCV003233529|RCV003233528; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135153668 | 135153668 | | | NC_000009.11:g.135153668C>T | ClinGen:CA5296648 | CN169374 not specified; | |
NC_000009.11:g.(?_135156834)_(135156981_?)del | 23064 | SETX | Uncertain significance | -1 | RCV001979755; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135156834 | 135156981 | | | -1 | - | | |
NM_015046.7(SETX):c.6654+12A>G | 23064 | SETX | Likely benign | 1015821444 | RCV002135385; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135156842 | 135156842 | | | 135156842 | - | | |
NM_015046.7(SETX):c.6654+5G>A | 23064 | SETX | Uncertain significance | 1843497922 | RCV001361461; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135156849 | 135156849 | | | 135156849 | - | | |
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) | 23064 | SETX | Pathogenic | 28940290 | RCV000002376; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135156870 | 135156870 | | | 9:g.135156870G>A | ClinGen:CA252178,UniProtKB:Q7Z333#VAR_018791,OMIM:608465.0003 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala) | 23064 | SETX | Uncertain significance | 1843502057 | RCV001196414; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135156871 | 135156871 | | | 9:g.135156871G>C | - | | |
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) | 23064 | SETX | Pathogenic | 1564482221 | RCV000995871; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135156888 | 135156888 | | | 9:g.135156888T>A | - | | |
NM_015046.7(SETX):c.6610C>T (p.Leu2204=) | 23064 | SETX | Likely benign | 2131200445 | RCV002166513; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135156898 | 135156898 | | | 135156898 | - | | |
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu) | 23064 | SETX | Uncertain significance | 1843510567 | RCV001042451; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135156954 | 135156954 | | | 9:g.135156954T>A | - | | |
NM_015046.7(SETX):c.6547-15del | 23064 | SETX | Likely benign | -1 | RCV003093364; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135156976 | 135156976 | | | NC_000009.11:g.135156976del | - | | |
NM_015046.7(SETX):c.6546+32T>A | 23064 | SETX | Benign | 2296873 | RCV000247371|RCV001668540|RCV003233526|RCV003233527; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158619 | 135158619 | | | 9:g.135158619A>T | ClinGen:CA5296692 | CN169374 not specified; | |
NM_015046.7(SETX):c.6546+18C>G | 23064 | SETX | Likely benign | 915871195 | RCV002186677; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135158633 | 135158633 | | | 135158633 | - | | |
NM_015046.7(SETX):c.6546+10C>T | 23064 | SETX | Likely benign | 571194790 | RCV001407759; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158641 | 135158641 | | | 135158641 | - | | |
NM_015046.7(SETX):c.6525C>T (p.Phe2175=) | 23064 | SETX | Likely benign | -1 | RCV003070529; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158672 | 135158672 | | | | - | | |
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) | 23064 | SETX | Benign/Likely benign | 34073320 | RCV000242598|RCV000285100|RCV000400042|RCV000527335|RCV001589268|RCV001848035; | N | 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:C1865409,OMIM:602433 | 9 | 135158690 | 135158690 | | | NC_000009.11:g.135158690C>T | ClinGen:CA5296701 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys) | 23064 | SETX | Uncertain significance | 1843647719 | RCV001222572; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158695 | 135158695 | | | 9:g.135158695G>A | - | | |
NM_015046.7(SETX):c.6474T>C (p.Ser2158=) | 23064 | SETX | Likely benign | 1216377543 | RCV002066088; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135158723 | 135158723 | | | 9:g.135158723A>G | - | | |
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1473613373 | RCV000995872|RCV001858823|RCV003229872; | N | 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|MedGen:CN517202 | 9 | 135158733 | 135158733 | | | 9:g.135158733A>C | - | | |
NM_015046.7(SETX):c.6453C>T (p.Ile2151=) | 23064 | SETX | Likely benign | 150599672 | RCV001416593; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158744 | 135158744 | | | 135158744 | - | | |
NM_015046.7(SETX):c.6441G>A (p.Glu2147=) | 23064 | SETX | Likely benign | -1 | RCV002690580; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158756 | 135158756 | | | | - | | |
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) | 23064 | SETX | Uncertain significance | 1387036733 | RCV002020523; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135158758 | 135158758 | | | 135158758 | - | | |
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 374110190 | RCV001167195|RCV001167770|RCV001760116|RCV001847183|RCV002068024; | N | MONDO: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:606002 | 9 | 135158762 | 135158762 | | | 9:g.135158762G>A | - | | |
NM_015046.7(SETX):c.6422dup (p.Ser2142fs) | 23064 | SETX | Pathogenic | -1 | RCV003072839; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158774 | 135158775 | | | NC_000009.11:g.135158775dup | - | | |
NM_015046.7(SETX):c.6397-20T>C | 23064 | SETX | Likely benign | -1 | RCV002786373; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135158820 | 135158820 | | | NC_000009.11:g.135158820A>G | - | | |
NM_015046.7(SETX):c.6396+16G>A | 23064 | SETX | Likely benign | 369168525 | RCV002200603; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135161794 | 135161794 | | | 135161794 | - | | |
NM_015046.7(SETX):c.6396+8G>C | 23064 | SETX | Conflicting interpretations of pathogenicity | 752365500 | RCV001167772|RCV001167771|RCV002068029; | N | 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:602433, Orphanet:357043 | 9 | 135161802 | 135161802 | | | 9:g.135161802C>G | - | | |
NM_015046.7(SETX):c.6390T>C (p.Ile2130=) | 23064 | SETX | Likely benign | 2131234539 | RCV002084600; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135161816 | 135161816 | | | 135161816 | - | | |
NM_015046.7(SETX):c.6384T>A (p.Ser2128=) | 23064 | SETX | Likely benign | 2131234628 | RCV001447660; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135161822 | 135161822 | | | 135161822 | - | | |
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) | 23064 | SETX | Uncertain significance | 781741533 | RCV001167773|RCV001167774|RCV002558656; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135161850 | 135161850 | | | 9:g.135161850A>G | - | | |
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) | 23064 | SETX | Likely benign | 200269892 | RCV000874910|RCV001486608|RCV003233873|RCV003233874; | N | MedGen: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:602433 | 9 | 135161855 | 135161855 | | | 9:g.135161855G>A | - | | |
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly) | 23064 | SETX | Uncertain significance | 957607977 | RCV001243287; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135161865 | 135161865 | | | 9:g.135161865T>C | - | | |
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val) | 23064 | SETX | Uncertain significance | 1589647043 | RCV000810160; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135161868 | 135161868 | | | 9:g.135161868T>A | - | | |
NM_015046.7(SETX):c.6324+5C>G | 23064 | SETX | Uncertain significance | -1 | RCV002999498; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163618 | 135163618 | | | NC_000009.11:g.135163618G>C | - | | |
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro) | 23064 | SETX | Uncertain significance | -1 | RCV003038898; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135163624 | 135163624 | | | NC_000009.11:g.135163624T>G | - | | |
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) | 23064 | SETX | Pathogenic | 879253866 | RCV000235070; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163625 | 135163625 | | | 9:g.135163625G>A | ClinGen:CA10584084 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln) | 23064 | SETX | Uncertain significance | -1 | RCV002600829; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163633 | 135163633 | | | NC_000009.11:g.135163633C>T | - | | |
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) | 23064 | SETX | Conflicting interpretations of pathogenicity | 142843968 | RCV000342521|RCV000407208|RCV001358835|RCV001662351|RCV002365439; | N | 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:606002, Orphanet:64753 | 9 | 135163634 | 135163634 | | | NC_000009.11:g.135163634G>A | ClinGen:CA5296776 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.6282T>C (p.Leu2094=) | 23064 | SETX | Likely benign | -1 | RCV002791375; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135163665 | 135163665 | | | | - | | |
NM_015046.7(SETX):c.6276T>C (p.Asp2092=) | 23064 | SETX | Likely benign | 759395503 | RCV000876860; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163671 | 135163671 | | | 9:g.135163671A>G | - | | |
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) | 23064 | SETX | Pathogenic | 1844047388 | RCV001226904; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163679 | 135163679 | | | 9:g.135163679G>A | - | | |
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) | 23064 | SETX | Uncertain significance | 751252138 | RCV001095487|RCV001212562|RCV002480462|RCV003233948|RCV003233949; | N | Human 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,MedGe | 9 | 135163699 | 135163699 | | | 9:g.135163699C>A | - | | |
NM_015046.7(SETX):c.6227A>C (p.His2076Pro) | 23064 | SETX | Uncertain significance | -1 | RCV003055876; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135163720 | 135163720 | | | NC_000009.11:g.135163720T>G | - | | |
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs) | 23064 | SETX | Pathogenic | 1564492117 | RCV000680095; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163731 | 135163732 | | | 9:g.135163731_135163732del | - | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.6209-7_6209-6insG | 23064 | SETX | Likely benign | 2131246566 | RCV001499402; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163744 | 135163745 | | | 135163744 | - | | |
NM_015046.7(SETX):c.6209-18_6209-15del | 23064 | SETX | Likely benign | -1 | RCV002949279; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163753 | 135163756 | | | NC_000009.11:g.135163756_135163759del | - | | |
NM_015046.7(SETX):c.6209-19dup | 23064 | SETX | Benign | -1 | RCV002650605; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135163756 | 135163757 | | | NC_000009.11:g.135163762dup | - | | |
NM_015046.7(SETX):c.6208+17G>A | 23064 | SETX | Likely benign | 182144319 | RCV002162606; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135163920 | 135163920 | | | 135163920 | - | | |
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) | 23064 | SETX | Uncertain significance | 755531730 | RCV001320421|RCV002357149|RCV003234043|RCV003234042; | N | MONDO: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:C18537 | 9 | 135163952 | 135163952 | | | 135163952 | - | | |
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) | 23064 | SETX | Uncertain significance | 2131247894 | RCV001986338; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163964 | 135163964 | | | 135163964 | - | | |
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) | 23064 | SETX | Uncertain significance | 747309962 | RCV000713227|RCV002352234|RCV003233841|RCV003233842; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135163973 | 135163973 | | | NC_000009.11:g.135163973T>G | - | | |
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200778360 | RCV001038594|RCV001167775|RCV001169646|RCV003141950; | N | 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:602433, Orphanet:357043 | 9 | 135163984 | 135163984 | | | 9:g.135163984C>T | - | | |
NM_015046.7(SETX):c.6159T>C (p.Asn2053=) | 23064 | SETX | Likely benign | 2131248104 | RCV001488228; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163986 | 135163986 | | | 135163986 | - | | |
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) | 23064 | SETX | Uncertain significance | 1429339677 | RCV001262698; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135163987 | 135163987 | | | 9:g.135163987T>C | - | | |
NM_015046.7(SETX):c.6150G>A (p.Lys2050=) | 23064 | SETX | Likely benign | -1 | RCV003088080; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135163995 | 135163995 | | | | - | | |
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys) | 23064 | SETX | Uncertain significance | 762479596 | RCV002031830; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135164006 | 135164006 | | | 135164006 | - | | |
NM_015046.7(SETX):c.6136C>T (p.Leu2046=) | 23064 | SETX | Benign | -1 | RCV003010062; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135164009 | 135164009 | | | | - | | |
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 140676924 | RCV000792834|RCV001169647|RCV001169648|RCV001644824|RCV000992948|RCV002352314; | N | 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:606002, Orphanet:64753 | 9 | 135164023 | 135164023 | | | 9:g.135164023A>G | - | | |
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) | 23064 | SETX | Benign | 35815657 | RCV001082476|RCV000713226|RCV003233785|RCV003233786; | N | 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:C1865409,OMIM:602433 | 9 | 135164037 | 135164037 | | | 9:g.135164037T>C | ClinGen:CA5296826 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.6107-3C>T | 23064 | SETX | Uncertain significance | -1 | RCV002807086; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135164041 | 135164041 | | | NC_000009.11:g.135164041G>A | - | | |
NM_015046.7(SETX):c.6107-5A>G | 23064 | SETX | Uncertain significance | 1284217475 | RCV001967118; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135164043 | 135164043 | | | 135164043 | - | | |
NM_015046.7(SETX):c.6107-7T>A | 23064 | SETX | Uncertain significance | 766634428 | RCV001757241|RCV003147644; | N | MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135164045 | 135164045 | | | 135164045 | - | | |
NM_015046.7(SETX):c.6107-19C>T | 23064 | SETX | Likely benign | -1 | RCV002923193; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135164057 | 135164057 | | | NC_000009.11:g.135164057G>A | - | | |
NM_015046.7(SETX):c.6106+14G>A | 23064 | SETX | Benign/Likely benign | 73661157 | RCV000250830|RCV000309595|RCV000366684|RCV001561521|RCV002058252; | N | MedGen: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:C186 | 9 | 135171245 | 135171245 | | | NC_000009.11:g.135171245C>T | ClinGen:CA5296837 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.6106+13T>C | 23064 | SETX | Likely benign | 370909687 | RCV002141663; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135171246 | 135171246 | | | 135171246 | - | | |
NM_015046.7(SETX):c.6106+8A>G | 23064 | SETX | Uncertain significance | 1314479594 | RCV001169650|RCV001169649; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135171251 | 135171251 | | | 9:g.135171251T>C | - | | |
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) | 23064 | SETX | Likely pathogenic | 863224919 | RCV001542668; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135171259 | 135171259 | | | 135171259 | - | | |
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) | 23064 | SETX | Uncertain significance | 746525639 | RCV000585033|RCV003233757|RCV002358643|RCV003233756; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135171280 | 135171280 | | | 9:g.135171280T>C | ClinGen:CA5296844 | CN517202 not provided; | |
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val) | 23064 | SETX | Uncertain significance | 546932016 | RCV000793058|RCV003344049; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135171307 | 135171307 | | | 9:g.135171307T>C | - | | |
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) | 23064 | SETX | Likely pathogenic | 797045068 | RCV000191127; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135171327 | 135171327 | | | 9:g.135171327A>C | ClinGen:CA276163 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.6024T>C (p.Pro2008=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1045096306 | RCV001848125|RCV002074408; | N | 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:64753 | 9 | 135171341 | 135171341 | | | 135171341 | - | | |
NM_015046.7(SETX):c.6021A>G (p.Ala2007=) | 23064 | SETX | Likely benign | -1 | RCV002751234; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135171344 | 135171344 | | | | - | | |
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) | 23064 | SETX | Likely pathogenic | 200154603 | RCV003225136; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135171348 | 135171348 | | | 9:g.135171348C>T | - | | |
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) | 23064 | SETX | Conflicting interpretations of pathogenicity | 148568105 | RCV000762580|RCV001662806|RCV001855957|RCV002352274; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135171352 | 135171352 | | | NC_000009.11:g.135171352C>T | - | | |
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 142917412 | RCV000644817|RCV002358400|RCV002473039; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 9 | 135171367 | 135171367 | | | 9:g.135171367G>C | ClinGen:CA5296854 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser) | 23064 | SETX | Uncertain significance | 2131284986 | RCV001904601; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135171379 | 135171379 | | | 135171379 | - | | |
NM_015046.7(SETX):c.5970A>G (p.Ser1990=) | 23064 | SETX | Likely benign | 1844648216 | RCV001410428; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135171395 | 135171395 | | | 135171395 | - | | |
NM_015046.7(SETX):c.5964G>A (p.Gly1988=) | 23064 | SETX | Likely benign | 775658101 | RCV002098893; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135171401 | 135171401 | | | 135171401 | - | | |
NM_015046.7(SETX):c.5950-14G>A | 23064 | SETX | Likely benign | 375632375 | RCV000245256|RCV002518644|RCV003233524|RCV003233525; | N | MedGen: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:602433 | 9 | 135171429 | 135171429 | | | 9:g.135171429C>T | ClinGen:CA10587020 | CN169374 not specified; | |
NM_015046.7(SETX):c.5950-20G>A | 23064 | SETX | Likely benign | -1 | RCV002790673; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135171435 | 135171435 | | | NC_000009.11:g.135171435C>T | - | | |
NM_015046.7(SETX):c.5949+13G>T | 23064 | SETX | Likely benign | 2131289221 | RCV002207789; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172261 | 135172261 | | | 135172261 | - | | |
NM_015046.7(SETX):c.5949+4_5949+7del | 23064 | SETX | Uncertain significance | 1844702677 | RCV001299763; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172267 | 135172270 | | | 135172266 | - | | |
NM_015046.7(SETX):c.5949+5G>A | 23064 | SETX | Conflicting interpretations of pathogenicity | 374656811 | RCV000644836|RCV000713224|RCV001169651|RCV001165667|RCV001706679|RCV001848978|RCV002358638; | N | 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:C1865409,OMIM:602433 | 9 | 135172269 | 135172269 | | | NC_000009.11:g.135172269C>T | ClinGen:CA5296870 | | |
NM_015046.7(SETX):c.5949G>A (p.Glu1983=) | 23064 | SETX | Uncertain significance | 2131289331 | RCV002012897; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172274 | 135172274 | | | 135172274 | - | | |
NM_015046.7(SETX):c.5941C>T (p.Leu1981=) | 23064 | SETX | Likely benign | 373324070 | RCV002090986; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172282 | 135172282 | | | 135172282 | - | | |
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro) | 23064 | SETX | Uncertain significance | 761031238 | RCV001214392; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172287 | 135172287 | | | 9:g.135172287C>G | - | | |
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) | 23064 | SETX | Uncertain significance | 761031238 | RCV002004187|RCV002352738|RCV003234157|RCV003234158; | N | 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:0011223,MedGen:C186540 | 9 | 135172287 | 135172287 | | | 135172287 | - | | |
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) | 23064 | SETX | Likely pathogenic | 121434380 | RCV000002385|RCV001288413; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202 | 9 | 135172294 | 135172294 | | | 9:g.135172294G>A | ClinGen:CA252191,OMIM:608465.0012 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) | 23064 | SETX | Pathogenic | 121434379 | RCV000002382|RCV001781169; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202 | 9 | 135172296 | 135172296 | | | 9:g.135172296A>C | ClinGen:CA252189,UniProtKB:Q7Z333#VAR_072588,OMIM:608465.0009 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) | 23064 | SETX | Likely benign | 780717865 | RCV000535425|RCV001497118|RCV002358542|RCV003233729|RCV003233730; | N | MedGen: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:001122 | 9 | 135172322 | 135172322 | | | NC_000009.11:g.135172322T>C | ClinGen:CA200818925 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser) | 23064 | SETX | Uncertain significance | -1 | RCV002967107; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172330 | 135172330 | | | NC_000009.11:g.135172330G>A | - | | |
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser) | 23064 | SETX | Uncertain significance | 1403263153 | RCV002244191; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172333 | 135172333 | | | 135172333 | - | | |
NM_015046.7(SETX):c.5859A>G (p.Pro1953=) | 23064 | SETX | Likely benign | 1423165535 | RCV001062624; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172364 | 135172364 | | | 9:g.135172364T>C | - | | |
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002469835|RCV002569368; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172365 | 135172365 | | | NC_000009.11:g.135172365G>A | - | | |
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) | 23064 | SETX | Uncertain significance | 928020122 | RCV001923046|RCV002359412|RCV003234135|RCV003234136; | N | 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:0011223,MedGen:C186540 | 9 | 135172370 | 135172370 | | | 135172370 | - | | |
NM_015046.7(SETX):c.5852A>G (p.His1951Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 146593865 | RCV001288412|RCV002542992; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172371 | 135172371 | | | 135172371 | - | | |
NM_015046.7(SETX):c.5852A>T (p.His1951Leu) | 23064 | SETX | Uncertain significance | -1 | RCV003107133; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172371 | 135172371 | | | NC_000009.11:g.135172371T>A | - | | |
NM_015046.7(SETX):c.5842A>G (p.Met1948Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 762267386 | RCV001171884|RCV002559645|RCV002355133; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135172381 | 135172381 | | | 9:g.135172381T>C | - | | |
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) | 23064 | SETX | Uncertain significance | 141440621 | RCV001095430|RCV001211387|RCV003233947; | N | 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:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172384 | 135172384 | | | 9:g.135172384C>T | - | | |
NM_015046.7(SETX):c.5835A>G (p.Ala1945=) | 23064 | SETX | Likely benign | 1298267771 | RCV001034265; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172388 | 135172388 | | | 9:g.135172388T>C | - | | |
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) | 23064 | SETX | Uncertain significance | 1009296937 | RCV001764938|RCV002359231|RCV003234099|RCV003234100; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172389 | 135172389 | | | 135172389 | - | | |
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) | 23064 | SETX | Pathogenic/Likely pathogenic | 797045067 | RCV000191126|RCV001795311; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789 | 9 | 135172393 | 135172402 | | | NC_000009.11:g.135172398_135172407del | ClinGen:CA276162 | | |
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 773379832 | RCV000995873|RCV001093196|RCV001095488; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MedGen:CN169374 | 9 | 135172398 | 135172398 | | | 9:g.135172398A>G | - | | |
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val) | 23064 | SETX | Uncertain significance | -1 | RCV002659669; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172399 | 135172399 | | | NC_000009.11:g.135172399T>C | - | | |
NM_015046.7(SETX):c.5814A>G (p.Gln1938=) | 23064 | SETX | Likely benign | 143868969 | RCV001404682; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172409 | 135172409 | | | 9:g.135172409T>C | - | | |
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) | 23064 | SETX | Benign | 2296869 | RCV000081700|RCV000312972|RCV000407219|RCV000713223|RCV001512046; | N | MedGen: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:C18 | 9 | 135172412 | 135172412 | | | 9:g.135172412A>G | ClinGen:CA148727 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr) | 23064 | SETX | Uncertain significance | 1844713785 | RCV001330596; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172412 | 135172414 | | | 135172412 | - | | |
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) | 23064 | SETX | Uncertain significance | 1844714133 | RCV001165668|RCV001165669; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135172414 | 135172414 | | | 9:g.135172414C>A | - | | |
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser) | 23064 | SETX | Conflicting interpretations of pathogenicity | 762791927 | RCV000518592|RCV002525079; | N | MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172419 | 135172419 | | | NC_000009.11:g.135172419T>C | ClinGen:CA5296892 | CN169374 not specified; | |
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) | 23064 | SETX | Uncertain significance | 1443102808 | RCV001040203; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172420 | 135172420 | | | 9:g.135172420T>C | - | | |
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200571606 | RCV001165670|RCV001165671|RCV002355130; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135172437 | 135172437 | | | 9:g.135172437G>A | - | | |
NM_015046.7(SETX):c.5782-6A>G | 23064 | SETX | Likely benign | 781129157 | RCV002068684; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135172447 | 135172447 | | | 9:g.135172447T>C | - | | |
NM_015046.7(SETX):c.5781+12dup | 23064 | SETX | Benign | 3831154 | RCV000081699|RCV000278002|RCV001596953|RCV001844032|RCV002055211|RCV003233104; | N | MedGen: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:001 | 9 | 135173454 | 135173455 | | | 9:g.135173454_135173455insA | ClinGen:CA148726 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.5781+10G>A | 23064 | SETX | Benign | 537414669 | RCV000559235|RCV001288411|RCV003233727|RCV003233728; | N | 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:C1865409,OMIM:602433 | 9 | 135173457 | 135173457 | | | NC_000009.11:g.135173457C>T | ClinGen:CA5296903 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5781+9T>C | 23064 | SETX | Benign/Likely benign | 772671321 | RCV001663597|RCV002073096|RCV003234094|RCV003234093; | N | MedGen: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:60600 | 9 | 135173458 | 135173458 | | | 135173458 | - | | |
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala) | 23064 | SETX | Uncertain significance | 372993859 | RCV000644830; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173481 | 135173481 | | | 9:g.135173481T>C | ClinGen:CA5296907 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro) | 23064 | SETX | Uncertain significance | 1844774142 | RCV001209437; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135173487 | 135173487 | | | 9:g.135173487T>G | - | | |
NM_015046.7(SETX):c.5719C>T (p.Leu1907=) | 23064 | SETX | Likely benign | 767373911 | RCV001481348; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173529 | 135173529 | | | 135173529 | - | | |
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) | 23064 | SETX | Benign/Likely benign | 750372437 | RCV000992946|RCV002549819|RCV003233903|RCV003233902; | N | MedGen: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:60600 | 9 | 135173536 | 135173536 | | | 9:g.135173536T>C | - | | |
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) | 23064 | SETX | Uncertain significance | 765849036 | RCV001165672|RCV001167262; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173551 | 135173551 | | | 9:g.135173551C>T | - | | |
NM_015046.7(SETX):c.5661A>G (p.Gln1887=) | 23064 | SETX | Uncertain significance | 1589671916 | RCV001919822; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173587 | 135173587 | | | 135173587 | - | | |
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val) | 23064 | SETX | Uncertain significance | -1 | RCV002781191; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135173610 | 135173610 | | | NC_000009.11:g.135173610T>C | - | | |
NM_015046.7(SETX):c.5637A>T (p.Val1879=) | 23064 | SETX | Likely benign | 2131295454 | RCV001490653; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173611 | 135173611 | | | 135173611 | - | | |
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser) | 23064 | SETX | Likely benign | -1 | RCV002700136; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135173621 | 135173621 | | | NC_000009.11:g.135173621T>C | - | | |
NM_015046.7(SETX):c.5616C>T (p.Asn1872=) | 23064 | SETX | Likely benign | 201472554 | RCV001409052; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173632 | 135173632 | | | 9:g.135173632G>A | - | | |
NM_015046.7(SETX):c.5604G>A (p.Pro1868=) | 23064 | SETX | Likely benign | 373607369 | RCV002116901; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173644 | 135173644 | | | 135173644 | - | | |
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) | 23064 | SETX | Uncertain significance | 370368422 | RCV002261879|RCV002346561|RCV003234172|RCV003234173; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135173645 | 135173645 | | | 135173645 | - | | |
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) | 23064 | SETX | Pathogenic/Likely pathogenic | 776470487 | RCV000517704|RCV002350142|RCV003233691; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173656 | 135173657 | | | NC_000009.11:g.135173656_135173657del | ClinGen:CA5296938 | | |
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) | 23064 | SETX | Conflicting interpretations of pathogenicity | 375747001 | RCV000713222|RCV001644780|RCV002532951; | N | MedGen: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:64753 | 9 | 135173657 | 135173657 | | | NC_000009.11:g.135173657T>G | - | | |
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser) | 23064 | SETX | Uncertain significance | 747493129 | RCV001242384; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135173675 | 135173675 | | | 9:g.135173675T>G | - | | |
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) | 23064 | SETX | Benign | 2296871 | RCV000081698|RCV000316637|RCV000355097|RCV000713221|RCV001512047; | N | MedGen: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:C18 | 9 | 135173685 | 135173685 | | | 9:g.135173685T>C | ClinGen:CA148723,UniProtKB:Q7Z333#VAR_018789 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg) | 23064 | SETX | Benign | 377620145 | RCV001929169; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135173691 | 135173691 | | | 135173691 | - | | |
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) | 23064 | SETX | Uncertain significance | 137978070 | RCV001228638|RCV001509373|RCV003234005|RCV003234006; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135173696 | 135173696 | | | 9:g.135173696C>T | - | | |
NM_015046.7(SETX):c.5549-5G>A | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002474453|RCV002574698; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135173704 | 135173704 | | | NC_000009.11:g.135173704C>T | - | | |
NM_015046.7(SETX):c.5548+19A>G | 23064 | SETX | Benign | 201294921 | RCV002125089; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135175998 | 135175998 | | | 135175998 | - | | |
NM_015046.7(SETX):c.5548+17G>A | 23064 | SETX | Likely benign | 1313333580 | RCV002209954; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135176000 | 135176000 | | | 135176000 | - | | |
NM_015046.7(SETX):c.5538C>G (p.Arg1846=) | 23064 | SETX | Likely benign | -1 | RCV002574856; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135176027 | 135176027 | | | | - | | |
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) | 23064 | SETX | Uncertain significance | 373571937 | RCV000518525|RCV002350141|RCV003233689|RCV003233690; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135176028 | 135176028 | | | 9:g.135176028C>T | ClinGen:CA5296962 | CN169374 not specified; | |
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) | 23064 | SETX | Benign/Likely benign | 551406712 | RCV000876813|RCV001288409|RCV002346031|RCV003233881|RCV003233882; | N | 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|MONDO:MONDO:001122 | 9 | 135176029 | 135176029 | | | 9:g.135176029G>A | - | | |
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) | 23064 | SETX | Benign/Likely benign | 200433173 | RCV000992945|RCV002549818|RCV003233900|RCV003233901; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135176030 | 135176030 | | | 9:g.135176030G>A | - | | |
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) | 23064 | SETX | Uncertain significance | 749395151 | RCV001167263|RCV001167264; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135176056 | 135176056 | | | 9:g.135176056G>A | - | | |
NM_015046.7(SETX):c.5505A>G (p.Glu1835=) | 23064 | SETX | Likely benign | 2131305953 | RCV002172948; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135176060 | 135176060 | | | 135176060 | - | | |
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) | 23064 | SETX | Uncertain significance | 143133190 | RCV001060795|RCV002348441|RCV002473187|RCV003233942|RCV003233943; | N | MONDO: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:001122 | 9 | 135176062 | 135176062 | | | 9:g.135176062C>T | - | | |
NM_015046.7(SETX):c.5502C>T (p.His1834=) | 23064 | SETX | Likely benign | 117410554 | RCV002129029; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135176063 | 135176063 | | | 135176063 | - | | |
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) | 23064 | SETX | Uncertain significance | 770822383 | RCV000517645|RCV001246159|RCV002350140|RCV003233687|RCV003233688; | N | MedGen: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:001122 | 9 | 135176064 | 135176064 | | | 9:g.135176064T>C | ClinGen:CA5296972 | CN169374 not specified; | |
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu) | 23064 | SETX | Uncertain significance | 2131306081 | RCV001985678; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135176074 | 135176074 | | | 135176074 | - | | |
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 151046729 | RCV000821447|RCV000992944|RCV001167265|RCV001167266|RCV002345897; | N | 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:C1853761,OMIM:60600 | 9 | 135176092 | 135176092 | | | 9:g.135176092T>C | - | | |
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu) | 23064 | SETX | Benign | 1249423284 | RCV000644831; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135176101 | 135176101 | | | 9:g.135176101T>C | ClinGen:CA375348024 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002917557|RCV003167901; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135176122 | 135176122 | | | NC_000009.11:g.135176122G>C | - | | |
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile) | 23064 | SETX | Uncertain significance | 763771426 | RCV001906633; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135176131 | 135176131 | | | 135176131 | - | | |
NM_015046.7(SETX):c.5431G>A (p.Val1811Met) | 23064 | SETX | Uncertain significance | 947336270 | RCV000792447; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135176134 | 135176134 | | | 9:g.135176134C>T | - | | |
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) | 23064 | SETX | Uncertain significance | 762071010 | RCV001167850|RCV001167267|RCV001288408; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202 | 9 | 135176162 | 135176162 | | | 9:g.135176162T>G | - | | |
NM_015046.7(SETX):c.5400T>C (p.Ala1800=) | 23064 | SETX | Likely benign | -1 | RCV002928183|RCV003434525; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900 | 9 | 135176165 | 135176165 | | | | - | | |
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr) | 23064 | SETX | Benign | -1 | RCV002654839; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135176167 | 135176167 | | | NC_000009.11:g.135176167C>T | - | | |
NM_015046.7(SETX):c.5375-9G>C | 23064 | SETX | Likely benign | 1239409311 | RCV000983608; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135176199 | 135176199 | | | 9:g.135176199C>G | - | | |
NM_015046.7(SETX):c.5375-18CTT[2] | 23064 | SETX | Benign/Likely benign | 201317659 | RCV000546960|RCV001080348|RCV001727748|RCV001848954|RCV003233725|RCV003233726; | N | MedGen: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:C185 | 9 | 135176200 | 135176202 | | | 9:g.135176200_135176202del | ClinGen:CA5296983 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5374+20A>G | 23064 | SETX | Likely benign | -1 | RCV002785680; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135187124 | 135187124 | | | NC_000009.11:g.135187124T>C | - | | |
NM_015046.7(SETX):c.5374+16C>T | 23064 | SETX | Benign | 2296872 | RCV000081697|RCV001610377|RCV002055210|RCV003233103|RCV003233102; | N | MedGen: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:C18 | 9 | 135187128 | 135187128 | | | 9:g.135187128G>A | ClinGen:CA148722 | CN169374 not specified; | |
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg) | 23064 | SETX | Uncertain significance | -1 | RCV002923432; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135187156 | 135187156 | | | NC_000009.11:g.135187156A>G | - | | |
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=) | 23064 | SETX | Likely benign | 777886975 | RCV001413650; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187157 | 135187157 | | | 135187157 | - | | |
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) | 23064 | SETX | Benign/Likely benign | 115071007 | RCV000875992|RCV001847102|RCV003233875|RCV003233876; | N | 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:606002, Orphanet:64753| | 9 | 135187172 | 135187172 | | | 9:g.135187172G>A | - | | |
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr) | 23064 | SETX | Uncertain significance | -1 | RCV002303626; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187179 | 135187179 | | | 135187179 | - | | |
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) | 23064 | SETX | Pathogenic/Likely pathogenic | 1169623576 | RCV001797866; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187186 | 135187186 | | | 135187186 | - | | |
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) | 23064 | SETX | Conflicting interpretations of pathogenicity | 771691157 | RCV000512696|RCV002527420; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187196 | 135187196 | | | 9:g.135187196C>A | ClinGen:CA5297016 | CN517202 not provided; | |
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) | 23064 | SETX | Uncertain significance | 886063552 | RCV000262186|RCV000319663; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187203 | 135187203 | | | NC_000009.11:g.135187203A>G | ClinGen:CA10632914 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) | 23064 | SETX | Pathogenic/Likely pathogenic | 750959420 | RCV000516701|RCV000664235|RCV000850075|RCV001260555|RCV001814179|RCV002527525; | N | MedGen: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:00 | 9 | 135187207 | 135187210 | | | NC_000009.11:g.135187208CT[1] | ClinGen:CA5297018 | CN517202 not provided; | |
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly) | 23064 | SETX | Uncertain significance | -1 | RCV002303407; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187209 | 135187209 | | | 135187209 | - | | |
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 766799310 | RCV001940484|RCV003339824; | N | 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 | 9 | 135187216 | 135187216 | | | 135187216 | - | | |
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 139063885 | RCV000284631|RCV000376752|RCV001080441|RCV001643106|RCV001848725|RCV003422370; | N | 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:602433, Orphanet:357043 | 9 | 135187235 | 135187235 | | | NC_000009.11:g.135187235T>C | ClinGen:CA5297024 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) | 23064 | SETX | Uncertain significance | 758411198 | RCV001067682|RCV002348469|RCV003233946|RCV003233945; | N | MONDO: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:C18537 | 9 | 135187239 | 135187239 | | | 9:g.135187239G>A | - | | |
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) | 23064 | SETX | Uncertain significance | 764316153 | RCV000992941|RCV001858763|RCV003233898|RCV003233899; | N | MedGen: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:602433 | 9 | 135187240 | 135187240 | | | 9:g.135187240C>T | - | | |
NM_015046.7(SETX):c.5276del (p.Val1759fs) | 23064 | SETX | Likely pathogenic | -1 | RCV003337854; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187242 | 135187242 | | | | - | | |
NM_015046.7(SETX):c.5275-14del | 23064 | SETX | Benign | 761232500 | RCV002136829; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135187257 | 135187257 | | | 135187256 | - | | |
NM_015046.7(SETX):c.5275-43T>C | 23064 | SETX | Benign/Likely benign | 144258500 | RCV001262696|RCV001547405|RCV003234017; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135187286 | 135187286 | | | 9:g.135187286A>G | - | | |
NC_000009.11:g.(?_135201691)_(135210134_?)del | 23064 | SETX | Pathogenic | -1 | RCV001963176; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201691 | 135210134 | | | -1 | - | | |
NM_015046.7(SETX):c.5274+8T>C | 23064 | SETX | Likely benign | 369501754 | RCV001445251; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201703 | 135201703 | | | 9:g.135201703A>G | - | | |
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200499115 | RCV001167852|RCV001167851|RCV001664719|RCV001700982|RCV001847184|RCV001486121; | N | MONDO: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:C186 | 9 | 135201714 | 135201714 | | | 9:g.135201714T>C | - | | |
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) | 23064 | SETX | Uncertain significance | 762175796 | RCV001167853|RCV001169725|RCV003336308; | N | 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:602433, Orphanet:357043 | 9 | 135201718 | 135201718 | | | 9:g.135201718A>T | - | | |
NM_015046.7(SETX):c.5264del (p.Thr1755fs) | 23064 | SETX | Pathogenic | 776632212 | RCV000694115; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201721 | 135201721 | | | NC_000009.11:g.135201721del | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu) | 23064 | SETX | Uncertain significance | 1846757741 | RCV001049997; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201774 | 135201774 | | | 9:g.135201774A>C | - | | |
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) | 23064 | SETX | Uncertain significance | 752646721 | RCV000498384|RCV001851384|RCV002252142|RCV003233653|RCV003233654; | N | MedGen: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:60243 | 9 | 135201782 | 135201782 | | | NC_000009.11:g.135201782C>T | ClinGen:CA5297055 | | |
NM_015046.7(SETX):c.5199G>A (p.Val1733=) | 23064 | SETX | Likely benign | -1 | RCV002858700; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201786 | 135201786 | | | | - | | |
NM_015046.7(SETX):c.5196T>C (p.Pro1732=) | 23064 | SETX | Likely benign | -1 | RCV003087643; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135201789 | 135201789 | | | | - | | |
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn) | 23064 | SETX | Uncertain significance | 770527045 | RCV001938770|RCV003434361; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135201814 | 135201814 | | | 135201814 | - | | |
NM_015046.7(SETX):c.5160G>T (p.Gly1720=) | 23064 | SETX | Likely benign | 763408913 | RCV001495968; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201825 | 135201825 | | | 135201825 | - | | |
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala) | 23064 | SETX | Uncertain significance | -1 | RCV003054778; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135201826 | 135201826 | | | NC_000009.11:g.135201826C>G | - | | |
NM_015046.7(SETX):c.5148T>C (p.Phe1716=) | 23064 | SETX | Likely benign | -1 | RCV002659709; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135201837 | 135201837 | | | | - | | |
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=) | 23064 | SETX | Likely benign | 768582274 | RCV001495240; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201855 | 135201855 | | | 9:g.135201855A>G | - | | |
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile) | 23064 | SETX | Conflicting interpretations of pathogenicity | 61745659 | RCV000697571|RCV002334333; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135201881 | 135201881 | | | NC_000009.11:g.135201881C>T | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.5097C>T (p.Asp1699=) | 23064 | SETX | Likely benign | 1163054039 | RCV001485246; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201888 | 135201888 | | | 135201888 | - | | |
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) | 23064 | SETX | Pathogenic/Likely pathogenic | 1589734405 | RCV000992940|RCV002549816|RCV003233897; | N | MedGen: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 | 9 | 135201902 | 135201902 | | | 9:g.135201902G>A | - | | |
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile) | 23064 | SETX | Conflicting interpretations of pathogenicity | 756770572 | RCV001067074|RCV001288406|RCV003396712; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900| | 9 | 135201914 | 135201914 | | | 9:g.135201914G>T | - | | |
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) | 23064 | SETX | Conflicting interpretations of pathogenicity | 140116005 | RCV000757760|RCV001047649|RCV001849091|RCV002343608; | N | MedGen: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:C0950123 | 9 | 135201934 | 135201934 | | | NC_000009.11:g.135201934G>C | - | | |
NM_015046.7(SETX):c.5024del (p.Pro1675fs) | 23064 | SETX | Uncertain significance | 1554820021 | RCV000625915; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201961 | 135201961 | | | 9:g.135201961_135201961del | ClinGen:CA658797314 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp) | 23064 | SETX | Likely benign | 775112319 | RCV002085215; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135201973 | 135201973 | | | 135201973 | - | | |
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser) | 23064 | SETX | Benign | -1 | RCV002606192; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135201974 | 135201974 | | | NC_000009.11:g.135201974C>T | - | | |
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys) | 23064 | SETX | Uncertain significance | 762808367 | RCV002025372; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135201977 | 135201977 | | | 135201977 | - | | |
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser) | 23064 | SETX | Benign | -1 | RCV002952976; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135201982 | 135201982 | | | NC_000009.11:g.135201982T>C | - | | |
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 185338915 | RCV001169726|RCV001169727; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135201996 | 135201996 | | | 9:g.135201996A>T | - | | |
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 146873848 | RCV000558440|RCV000859806|RCV001644653|RCV001848953|RCV002341378; | N | MONDO: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:C0950123 | 9 | 135202003 | 135202003 | | | NC_000009.11:g.135202003G>C | ClinGen:CA5297098 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) | 23064 | SETX | Uncertain significance | 371894414 | RCV000644814|RCV001849022|RCV002334141|RCV002473088|RCV003233771|RCV003233772; | N | 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:C0950123|MedGen:CN517202|MONDO:MONDO:001899 | 9 | 135202006 | 135202006 | | | NC_000009.11:g.135202006T>C | ClinGen:CA5297100 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile) | 23064 | SETX | Uncertain significance | -1 | RCV003093700; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202013 | 135202013 | | | NC_000009.11:g.135202013C>T | - | | |
NM_015046.7(SETX):c.4971T>C (p.Asn1657=) | 23064 | SETX | Likely benign | 1159266524 | RCV002162908; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202014 | 135202014 | | | 135202014 | - | | |
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser) | 23064 | SETX | Conflicting interpretations of pathogenicity | 567825753 | RCV001899854|RCV002334755; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135202015 | 135202015 | | | 135202015 | - | | |
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro) | 23064 | SETX | Likely benign | 142509544 | RCV002035771; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202022 | 135202022 | | | 135202022 | - | | |
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del) | 23064 | SETX | Uncertain significance | -1 | RCV003007958|RCV003234216; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202 | 9 | 135202038 | 135202061 | | | NC_000009.11:g.135202046_135202069del | - | | |
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe) | 23064 | SETX | Uncertain significance | -1 | RCV003089765; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202040 | 135202040 | | | NC_000009.11:g.135202040C>A | - | | |
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly) | 23064 | SETX | Uncertain significance | -1 | RCV002342644|RCV003096534|RCV003234182|RCV003234183; | N | 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|MONDO:MONDO:0011223,MedGen:C186540 | 9 | 135202051 | 135202051 | | | 135202051 | - | | |
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs) | 23064 | SETX | Pathogenic | 2131428041 | RCV001807896; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202053 | 135202054 | | | 135202052 | - | | |
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 375942182 | RCV000323303|RCV000380301|RCV002524587; | N | 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:606002, Orphanet:64753 | 9 | 135202061 | 135202061 | | | NC_000009.11:g.135202061G>T | ClinGen:CA5297106 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg) | 23064 | SETX | Uncertain significance | 150918808 | RCV002017883; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202069 | 135202069 | | | 135202069 | - | | |
NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro) | 23064 | SETX | Conflicting interpretations of pathogenicity | 150918808 | RCV002106306|RCV002337330; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135202069 | 135202069 | | | 135202069 | - | | |
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 368931174 | RCV000795164|RCV002334477|RCV002272358|RCV002290435; | N | MONDO: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 | 9 | 135202079 | 135202079 | | | 9:g.135202079T>C | - | | |
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) | 23064 | SETX | Uncertain significance | 1466879487 | RCV000545900; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202082 | 135202082 | | | NC_000009.11:g.135202082A>T | ClinGen:CA375323447 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4899G>A (p.Ser1633=) | 23064 | SETX | Benign | -1 | RCV003053337; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202086 | 135202086 | | | | - | | |
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) | 23064 | SETX | Uncertain significance | 1022473091 | RCV000513047|RCV002524974|RCV003233658|RCV003233659; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202087 | 135202087 | | | 9:g.135202087G>A | ClinGen:CA200806533 | CN517202 not provided; | |
NM_015046.7(SETX):c.4890dup (p.Ile1631fs) | 23064 | SETX | Pathogenic | -1 | RCV003072642; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202094 | 135202095 | | | NC_000009.11:g.135202098dup | - | | |
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu) | 23064 | SETX | Uncertain significance | 1362908917 | RCV001998539; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202100 | 135202100 | | | 135202100 | - | | |
NM_015046.7(SETX):c.4872A>G (p.Leu1624=) | 23064 | SETX | Likely benign | 567475841 | RCV002540147; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202113 | 135202113 | | | 9:g.135202113T>C | - | | |
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) | 23064 | SETX | Likely benign | 779472573 | RCV000533618|RCV002341377|RCV003233723|RCV003233724|RCV003403307; | N | 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:0011223,MedGen:C186540 | 9 | 135202119 | 135202119 | | | NC_000009.11:g.135202119C>T | ClinGen:CA5297120 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) | 23064 | SETX | Uncertain significance | 140781535 | RCV000518382|RCV000764811|RCV001579382|RCV002341213|RCV003233685|RCV003233686; | N | MedGen: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|MO | 9 | 135202120 | 135202120 | | | 9:g.135202120G>A | ClinGen:CA5297121 | CN169374 not specified; | |
NM_015046.7(SETX):c.4860T>G (p.Leu1620=) | 23064 | SETX | Likely benign | 758938142 | RCV001446567; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202125 | 135202125 | | | 135202125 | - | | |
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter) | 23064 | SETX | Pathogenic | 553512431 | RCV001095774; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202132 | 135202132 | | | 9:g.135202132G>C | - | | |
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile) | 23064 | SETX | Uncertain significance | -1 | RCV002907905; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202138 | 135202138 | | | NC_000009.11:g.135202138G>A | - | | |
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) | 23064 | SETX | Conflicting interpretations of pathogenicity | 749891883 | RCV000696941|RCV002334326|RCV002473117; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 135202157 | 135202157 | | | 9:g.135202157G>A | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) | 23064 | SETX | Pathogenic | 759213174 | RCV000364271|RCV002518808|RCV003233534; | N | MedGen: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 | 9 | 135202169 | 135202169 | | | 9:g.135202169G>A | ClinGen:CA5297136 | CN517202 not provided; | |
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) | 23064 | SETX | Uncertain significance | 916634082 | RCV000552942; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202226 | 135202226 | | | NC_000009.11:g.135202226G>A | ClinGen:CA200806694 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu) | 23064 | SETX | Uncertain significance | 1165229035 | RCV000694003; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202228 | 135202228 | | | NC_000009.11:g.135202228G>A | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) | 23064 | SETX | Benign/Likely benign | 151237267 | RCV000253267|RCV000288368|RCV000345636|RCV000713217|RCV001084160|RCV001848034|RCV002338805; | N | MedGen: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:C186 | 9 | 135202230 | 135202230 | | | 9:g.135202230A>C | ClinGen:CA5297140 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser) | 23064 | SETX | Uncertain significance | 1846817047 | RCV001213556; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202232 | 135202232 | | | 9:g.135202232G>A | - | | |
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys) | 23064 | SETX | Uncertain significance | 752179261 | RCV001339479; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202247 | 135202247 | | | 135202247 | - | | |
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr) | 23064 | SETX | Uncertain significance | 781383567 | RCV002013538; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202262 | 135202262 | | | 135202262 | - | | |
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) | 23064 | SETX | Likely benign | 769964668 | RCV000555532|RCV002330912|RCV003233722|RCV003233721; | N | MONDO: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:C18537 | 9 | 135202278 | 135202278 | | | 9:g.135202278A>G | ClinGen:CA5297146 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) | 23064 | SETX | Uncertain significance | 771969117 | RCV001913304|RCV003434346; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135202300 | 135202300 | | | 135202300 | - | | |
NM_015046.7(SETX):c.4683G>C (p.Gln1561His) | 23064 | SETX | Likely benign | 772991134 | RCV000644811; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202302 | 135202302 | | | 9:g.135202302C>G | ClinGen:CA5297150 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4679dup (p.Asn1560fs) | 23064 | SETX | Pathogenic | 746973259 | RCV001219301; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202305 | 135202306 | | | 9:g.135202305_135202306insT | - | | |
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) | 23064 | SETX | Benign/Likely benign | 200123129 | RCV000644852|RCV000713216|RCV002334142|RCV003233789|RCV003233790; | N | 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|MONDO:MONDO:001122 | 9 | 135202308 | 135202308 | | | NC_000009.11:g.135202308T>C | ClinGen:CA5297153 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu) | 23064 | SETX | Benign | 776238150 | RCV001939927; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202310 | 135202310 | | | 135202310 | - | | |
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 764920626 | RCV000713215|RCV001165734|RCV001169728|RCV001861986|RCV001849076; | N | MedGen: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:60600 | 9 | 135202313 | 135202313 | | | NC_000009.11:g.135202313T>C | - | | |
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) | 23064 | SETX | Uncertain significance | 1554820196 | RCV000538383; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202315 | 135202315 | | | 9:g.135202315G>C | ClinGen:CA375325197 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val) | 23064 | SETX | Uncertain significance | 558075773 | RCV000693224; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202322 | 135202322 | | | 9:g.135202322G>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) | 23064 | SETX | Benign/Likely benign | 112089123 | RCV000249296|RCV000291226|RCV000402230|RCV000757758|RCV001082247|RCV001848033; | N | MedGen: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:C186 | 9 | 135202325 | 135202325 | | | NC_000009.11:g.135202325A>C | ClinGen:CA5297159,UniProtKB:Q7Z333#VAR_071685 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) | 23064 | SETX | Uncertain significance | 754357821 | RCV000731319|RCV002334410|RCV003233845|RCV003233846; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202354 | 135202354 | | | NC_000009.11:g.135202354A>G | - | | |
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys) | 23064 | SETX | Uncertain significance | 2131431252 | RCV001893168; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202361 | 135202361 | | | 135202361 | - | | |
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln) | 23064 | SETX | Benign/Likely benign | -1 | RCV002342477|RCV003094792|RCV003234180|RCV003234181; | N | 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|MONDO:MONDO:0011223,MedGen:C186540 | 9 | 135202372 | 135202372 | | | 135202372 | - | | |
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) | 23064 | SETX | Conflicting interpretations of pathogenicity | 147018359 | RCV000348389|RCV000400900|RCV000516243|RCV000644810|RCV002338959; | N | MONDO: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:60600 | 9 | 135202373 | 135202373 | | | NC_000009.11:g.135202373G>A | ClinGen:CA5297167 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) | 23064 | SETX | Uncertain significance | 1554820219 | RCV000554474; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202384 | 135202384 | | | NC_000009.11:g.135202384T>A | ClinGen:CA375325572 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile) | 23064 | SETX | Likely benign | -1 | RCV003061655; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202400 | 135202400 | | | NC_000009.11:g.135202400C>T | - | | |
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala) | 23064 | SETX | Benign | -1 | RCV002795247; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202403 | 135202403 | | | NC_000009.11:g.135202403T>C | - | | |
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) | 23064 | SETX | Likely benign | 374149839 | RCV000542139|RCV002341376|RCV003233720|RCV003233719; | N | MONDO: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:C18537 | 9 | 135202422 | 135202422 | | | NC_000009.11:g.135202422T>C | ClinGen:CA5297177 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser) | 23064 | SETX | Uncertain significance | -1 | RCV003083788; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202438 | 135202438 | | | NC_000009.11:g.135202438T>C | - | | |
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 138195434 | RCV001298212|RCV002341587; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135202465 | 135202465 | | | 135202465 | - | | |
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) | 23064 | SETX | Uncertain significance | 199974622 | RCV001663594|RCV001882760|RCV002334641|RCV003234091|RCV003234092; | N | MedGen: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:001122 | 9 | 135202468 | 135202468 | | | 135202468 | - | | |
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys) | 23064 | SETX | Uncertain significance | 199974622 | RCV001956993; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202468 | 135202468 | | | 135202468 | - | | |
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | 781275166 | RCV001165735|RCV001165736; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202474 | 135202474 | | | 9:g.135202474T>C | - | | |
NM_015046.7(SETX):c.4500A>G (p.Gln1500=) | 23064 | SETX | Likely benign | -1 | RCV002976636; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202485 | 135202485 | | | | - | | |
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr) | 23064 | SETX | Uncertain significance | 202047872 | RCV001351712; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202505 | 135202505 | | | 135202505 | - | | |
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr) | 23064 | SETX | Uncertain significance | 772466321 | RCV000822855; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202526 | 135202526 | | | 9:g.135202526A>T | - | | |
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly) | 23064 | SETX | Uncertain significance | -1 | RCV002948366; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202540 | 135202540 | | | NC_000009.11:g.135202540T>C | - | | |
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 761119964 | RCV000525003|RCV003243185; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135202549 | 135202549 | | | 9:g.135202549G>A | ClinGen:CA5297200 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 143661911 | RCV000518326|RCV000550269|RCV001165737|RCV001167321|RCV001644615|RCV001848902|RCV002329225|RCV003431059; | N | 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:C1853761,OMIM:60600 | 9 | 135202552 | 135202552 | | | 9:g.135202552G>T | ClinGen:CA5297202 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 759545112 | RCV001288405|RCV002327624|RCV002537972; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202553 | 135202553 | | | 135202553 | - | | |
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 376678876 | RCV001509375|RCV001847286|RCV002564285; | N | MedGen: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:64753 | 9 | 135202562 | 135202562 | | | 135202562 | - | | |
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) | 23064 | SETX | Uncertain significance | 781185115 | RCV000992939|RCV002327219|RCV003233896|RCV003233895; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202568 | 135202568 | | | 9:g.135202568G>A | - | | |
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) | 23064 | SETX | Conflicting interpretations of pathogenicity | 756080695 | RCV000999254|RCV002550734; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202595 | 135202595 | | | 9:g.135202595G>A | - | | |
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) | 23064 | SETX | Likely benign | 1554820336 | RCV000644842|RCV002331197|RCV003233782|RCV003233781; | N | MONDO: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:C18537 | 9 | 135202599 | 135202599 | | | NC_000009.11:g.135202599T>C | ClinGen:CA467806362 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala) | 23064 | SETX | Uncertain significance | -1 | RCV002670844; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202612 | 135202612 | | | NC_000009.11:g.135202612A>G | - | | |
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) | 23064 | SETX | Uncertain significance | 747804357 | RCV000703290|RCV003140115; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202 | 9 | 135202616 | 135202616 | | | NC_000009.11:g.135202616T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4353A>G (p.Val1451=) | 23064 | SETX | Likely benign | 771367273 | RCV000875490; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202632 | 135202632 | | | 9:g.135202632T>C | - | | |
NM_015046.7(SETX):c.4338G>A (p.Val1446=) | 23064 | SETX | Likely benign | 777058489 | RCV001428204; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202647 | 135202647 | | | 135202647 | - | | |
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) | 23064 | SETX | Uncertain significance | 1477696040 | RCV001754526|RCV002540237|RCV003234101|RCV003234102; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135202649 | 135202649 | | | 135202649 | - | | |
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala) | 23064 | SETX | Likely benign | 759653127 | RCV001899548; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202651 | 135202651 | | | 135202651 | - | | |
NM_015046.7(SETX):c.4323G>A (p.Gln1441=) | 23064 | SETX | Likely benign | 180992608 | RCV001438996; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202662 | 135202662 | | | 135202662 | - | | |
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) | 23064 | SETX | Uncertain significance | 1589737441 | RCV000992938|RCV001038162|RCV003233894|RCV003233893; | N | 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:C1853761,OMIM:60600 | 9 | 135202669 | 135202669 | | | 9:g.135202669A>G | - | | |
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) | 23064 | SETX | Uncertain significance | 1038733632 | RCV001945664|RCV002331460|RCV003234140|RCV003234139|RCV003434358; | N | MONDO: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:C18537 | 9 | 135202688 | 135202688 | | | 135202688 | - | | |
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) | 23064 | SETX | Uncertain significance | 371541705 | RCV001752398|RCV002329733|RCV002540427|RCV003234112|RCV003401690|RCV003234111; | N | MedGen: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:0018 | 9 | 135202694 | 135202694 | | | 135202694 | - | | |
NM_015046.7(SETX):c.4283A>G (p.His1428Arg) | 23064 | SETX | Likely benign | 778236359 | RCV001327470; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202702 | 135202702 | | | 135202702 | - | | |
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg) | 23064 | SETX | Uncertain significance | 778111855 | RCV000813470; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202723 | 135202723 | | | 9:g.135202723G>C | - | | |
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 373375060 | RCV000143816|RCV000790204|RCV000988270|RCV001002069|RCV001041860|RCV001167322|RCV002326848|RCV003415971; | N | MedGen: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:C186 | 9 | 135202760 | 135202760 | | | NC_000009.11:g.135202760T>A | ClinGen:CA233099 | CN517202 not provided; | |
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly) | 23064 | SETX | Benign | -1 | RCV002761651; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202763 | 135202763 | | | NC_000009.11:g.135202763T>C | - | | |
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) | 23064 | SETX | Benign/Likely benign | 150421712 | RCV000313278|RCV000370263|RCV001662352|RCV001509824; | N | MONDO: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:602433 | 9 | 135202781 | 135202781 | | | NC_000009.11:g.135202781T>A | ClinGen:CA5297247 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 148078248 | RCV000542207|RCV001085153|RCV001167323|RCV001167324|RCV002330911|RCV003403306; | N | 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:C1853761,OMIM:60600 | 9 | 135202788 | 135202788 | | | 9:g.135202788T>C | ClinGen:CA5297250 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys) | 23064 | SETX | Uncertain significance | -1 | RCV002786160; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202798 | 135202798 | | | NC_000009.11:g.135202798T>C | - | | |
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) | 23064 | SETX | Uncertain significance | 780078856 | RCV000992937|RCV001204397|RCV003233892|RCV003233891; | N | MedGen: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:60600 | 9 | 135202805 | 135202805 | | | 9:g.135202805A>G | - | | |
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) | 23064 | SETX | Benign | 543573 | RCV000081696|RCV000298134|RCV000391406|RCV000713212|RCV001522460; | N | MedGen: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:C18 | 9 | 135202829 | 135202829 | | | 9:g.135202829T>C | ClinGen:CA148719,UniProtKB:Q7Z333#VAR_018787 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg) | 23064 | SETX | Uncertain significance | -1 | RCV002996593; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202840 | 135202840 | | | NC_000009.11:g.135202840T>C | - | | |
NM_015046.7(SETX):c.4136A>G (p.His1379Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 181158146 | RCV001794763|RCV002541275; | N | MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202849 | 135202849 | | | 135202849 | - | | |
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 756823072 | RCV000516516|RCV002527524; | N | MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202865 | 135202865 | | | 9:g.135202865T>C | ClinGen:CA5297266 | CN169374 not specified; | |
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) | 23064 | SETX | Uncertain significance | 1564539457 | RCV000686213|RCV001766462|RCV002325358|RCV003233813|RCV003233814; | N | MONDO: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:001122 | 9 | 135202871 | 135202871 | | | NC_000009.11:g.135202871C>G | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) | 23064 | SETX | Likely benign | 750697305 | RCV000525365|RCV002323995|RCV003233718|RCV003233717; | N | MONDO: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:C18537 | 9 | 135202872 | 135202872 | | | NC_000009.11:g.135202872T>C | ClinGen:CA5297268 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1445388214 | RCV000689471|RCV002473107|RCV003403596; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900| | 9 | 135202882 | 135202882 | | | NC_000009.11:g.135202882C>A | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) | 23064 | SETX | Conflicting interpretations of pathogenicity | 140147684 | RCV000549234|RCV001167928|RCV001288399|RCV001167927|RCV002323994; | N | 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:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135202889 | 135202889 | | | 9:g.135202889A>G | ClinGen:CA5297271 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe) | 23064 | SETX | Uncertain significance | -1 | RCV002663959; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202892 | 135202892 | | | NC_000009.11:g.135202892G>A | - | | |
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) | 23064 | SETX | Pathogenic | 121434376 | RCV000002374|RCV000622386|RCV002247241; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 135202898 | 135202898 | | | 9:g.135202898G>A | ClinGen:CA252172,OMIM:608465.0001 | C0950123 Inborn genetic diseases; | |
NM_015046.7(SETX):c.4071A>G (p.Lys1357=) | 23064 | SETX | Likely benign | -1 | RCV003045584; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202914 | 135202914 | | | | - | | |
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 886063553 | RCV000263119|RCV000355651|RCV002323569; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135202932 | 135202932 | | | NC_000009.11:g.135202932T>C | ClinGen:CA10629234 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) | 23064 | SETX | Likely benign | 375241191 | RCV000536880; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202934 | 135202934 | | | NC_000009.11:g.135202934G>C | ClinGen:CA5297277 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) | 23064 | SETX | Uncertain significance | 146407699 | RCV000518088|RCV000644816|RCV003233683|RCV003233684; | N | MedGen: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:602433 | 9 | 135202940 | 135202940 | | | 9:g.135202940G>C | ClinGen:CA200807527 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser) | 23064 | SETX | Uncertain significance | -1 | RCV002795854; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202954 | 135202954 | | | NC_000009.11:g.135202954G>C | - | | |
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) | 23064 | SETX | Conflicting interpretations of pathogenicity | 769558791 | RCV000992936|RCV001858762|RCV002354901; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135202963 | 135202965 | | | 9:g.135202963_135202965del | - | | |
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 368323660 | RCV000320579|RCV000358967|RCV000807443|RCV002356498; | N | 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:606002, Orphanet:64753 | 9 | 135202965 | 135202965 | | | NC_000009.11:g.135202965C>A | ClinGen:CA5297284 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del) | 23064 | SETX | Uncertain significance | -1 | RCV002571845; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202991 | 135202993 | | | NC_000009.11:g.135202991GAG[1] | - | | |
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) | 23064 | SETX | Benign/Likely benign | 11243731 | RCV000266813|RCV000324299|RCV000874493|RCV002356499; | N | 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:602433, Orphanet:357043 | 9 | 135202993 | 135202993 | | | NC_000009.11:g.135202993G>A | ClinGen:CA5297290,UniProtKB:Q7Z333#VAR_018786 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser) | 23064 | SETX | Benign | -1 | RCV003084953; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135202994 | 135202994 | | | NC_000009.11:g.135202994G>A | - | | |
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe) | 23064 | SETX | Uncertain significance | -1 | RCV002604514; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135202996 | 135202996 | | | NC_000009.11:g.135202996G>A | - | | |
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) | 23064 | SETX | Uncertain significance | 369542231 | RCV000143815|RCV000517014|RCV002371981|RCV003233112|RCV003233113|RCV003415970; | N | MedGen: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| | 9 | 135203017 | 135203017 | | | 9:g.135203017C>T | ClinGen:CA233096 | CN517202 not provided; | |
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 144900653 | RCV000713211|RCV001210286|RCV001849075|RCV002369984; | N | MedGen: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:C0950123 | 9 | 135203020 | 135203020 | | | NC_000009.11:g.135203020G>T | - | | |
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile) | 23064 | SETX | Uncertain significance | 771168824 | RCV000809266; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203030 | 135203030 | | | 9:g.135203030C>T | - | | |
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) | 23064 | SETX | Uncertain significance | 1564539968 | RCV000700419|RCV002307600|RCV003233824|RCV003233825; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135203035 | 135203035 | | | NC_000009.11:g.135203035A>G | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3945A>G (p.Lys1315=) | 23064 | SETX | Likely benign | -1 | RCV002975197; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203040 | 135203040 | | | | - | | |
NM_015046.7(SETX):c.3942C>T (p.Gly1314=) | 23064 | SETX | Likely benign | -1 | RCV003090092; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203043 | 135203043 | | | | - | | |
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) | 23064 | SETX | Uncertain significance | 773999398 | RCV001967718|RCV003136348; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:C3661900 | 9 | 135203054 | 135203054 | | | 135203054 | - | | |
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 886063554 | RCV000289144|RCV000381150|RCV002356500|RCV002472997; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 135203085 | 135203085 | | | NC_000009.11:g.135203085G>A | ClinGen:CA10629236 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe) | 23064 | SETX | Likely benign | -1 | RCV003058944|RCV003076256|RCV003234220|RCV003234219; | N | MONDO: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:C18537 | 9 | 135203095 | 135203095 | | | NC_000009.11:g.135203095T>A | - | | |
NM_015046.7(SETX):c.3881G>A (p.Arg1294His) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV003118242|RCV003140245; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135203104 | 135203104 | | | NC_000009.11:g.135203104C>T | - | | |
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 148604312 | RCV000515884|RCV000560688|RCV000859602|RCV001169791|RCV001169792|RCV002356794; | N | 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:64753|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002 | 9 | 135203159 | 135203159 | | | 9:g.135203159G>C | ClinGen:CA5297318 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys) | 23064 | SETX | Likely benign | 760272692 | RCV000699331; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203162 | 135203162 | | | NC_000009.11:g.135203162G>A | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 202204341 | RCV001889286|RCV002361171; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135203170 | 135203170 | | | 135203170 | - | | |
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) | 23064 | SETX | Likely benign | 759945253 | RCV001455496|RCV002358541|RCV003233715|RCV003233716; | N | 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:0011223,MedGen:C186540 | 9 | 135203172 | 135203172 | | | 9:g.135203172T>C | ClinGen:CA5297324 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3810G>A (p.Pro1270=) | 23064 | SETX | Likely benign | 753022992 | RCV001493109|RCV003399255; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374 | 9 | 135203175 | 135203175 | | | 135203175 | - | | |
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 144334281 | RCV000329054|RCV000385882|RCV000644851|RCV001084313|RCV002356315; | N | 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:C1865409,OMIM:602433 | 9 | 135203176 | 135203176 | | | 9:g.135203176G>A | ClinVar:157525,ClinGen:CA048312 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val) | 23064 | SETX | Uncertain significance | 764516725 | RCV000685943; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203183 | 135203183 | | | NC_000009.11:g.135203183T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del) | 23064 | SETX | Uncertain significance | 2131439346 | RCV002023776; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203187 | 135203189 | | | 135203186 | - | | |
NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala) | 23064 | SETX | Likely benign | 956812554 | RCV001938713; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203192 | 135203192 | | | 135203192 | - | | |
NM_015046.7(SETX):c.3780A>G (p.Leu1260=) | 23064 | SETX | Likely benign | 375854407 | RCV002095739; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203205 | 135203205 | | | 135203205 | - | | |
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu) | 23064 | SETX | Uncertain significance | 773081186 | RCV002024777; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203215 | 135203215 | | | 135203215 | - | | |
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) | 23064 | SETX | Benign | 1183768 | RCV000081695|RCV000351274|RCV000713210|RCV000988271|RCV001522461; | N | MedGen: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:C18 | 9 | 135203231 | 135203231 | | | 9:g.135203231C>T | ClinGen:CA148716,UniProtKB:Q7Z333#VAR_018785 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3737A>C (p.His1246Pro) | 23064 | SETX | Uncertain significance | 2131440106 | RCV001879572; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203248 | 135203248 | | | 135203248 | - | | |
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) | 23064 | SETX | Uncertain significance | 1467137301 | RCV000534859; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203257 | 135203257 | | | NC_000009.11:g.135203257T>C | ClinGen:CA375328503 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3723C>A (p.Thr1241=) | 23064 | SETX | Likely benign | 367828971 | RCV002111457; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203262 | 135203262 | | | 135203262 | - | | |
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002625524|RCV003167474|RCV003443064; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 9 | 135203279 | 135203279 | | | NC_000009.11:g.135203279C>T | - | | |
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly) | 23064 | SETX | Uncertain significance | -1 | RCV002776491; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203285 | 135203285 | | | NC_000009.11:g.135203285T>C | - | | |
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter) | 23064 | SETX | Pathogenic | 2131440608 | RCV002014627; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203304 | 135203304 | | | 135203304 | - | | |
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe) | 23064 | SETX | Benign | 750526955 | RCV001374095; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203305 | 135203305 | | | 135203305 | - | | |
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe) | 23064 | SETX | Uncertain significance | 2131440671 | RCV001367973; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203309 | 135203309 | | | 135203309 | - | | |
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met) | 23064 | SETX | Uncertain significance | -1 | RCV002834312; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203311 | 135203311 | | | NC_000009.11:g.135203311T>A | - | | |
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) | 23064 | SETX | Benign/Likely benign | 12344006 | RCV000558654|RCV001087347|RCV001165815|RCV001165814|RCV001700149; | N | 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:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135203322 | 135203322 | | | 9:g.135203322C>G | ClinGen:CA5297350 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) | 23064 | SETX | Benign/Likely benign | 111419285 | RCV000644838|RCV001085691|RCV002458084|RCV003233775|RCV003233776; | N | MedGen: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:001122 | 9 | 135203334 | 135203334 | | | 9:g.135203334C>A | ClinGen:CA5297354 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) | 23064 | SETX | Likely benign | 111419285 | RCV000713209|RCV003233839|RCV002458335|RCV003233840; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203334 | 135203334 | | | NC_000009.11:g.135203334C>G | - | | |
NM_015046.7(SETX):c.3651G>A (p.Thr1217=) | 23064 | SETX | Likely benign | 111419285 | RCV000874776; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203334 | 135203334 | | | 9:g.135203334C>T | - | | |
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met) | 23064 | SETX | Conflicting interpretations of pathogenicity | 140892948 | RCV000794210|RCV002458415; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135203335 | 135203335 | | | 9:g.135203335G>A | - | | |
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala) | 23064 | SETX | Uncertain significance | 1846942479 | RCV001320742; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203336 | 135203336 | | | 135203336 | - | | |
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | 371687197 | RCV002012690|RCV002625345; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135203345 | 135203345 | | | 135203345 | - | | |
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser) | 23064 | SETX | Uncertain significance | -1 | RCV003055243; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203365 | 135203365 | | | NC_000009.11:g.135203365G>C | - | | |
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002571528|RCV002474457; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202 | 9 | 135203378 | 135203378 | | | NC_000009.11:g.135203378T>C | - | | |
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) | 23064 | SETX | Uncertain significance | 138167195 | RCV002036086|RCV002454319|RCV003234165|RCV003234164; | N | MONDO: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:C18537 | 9 | 135203380 | 135203380 | | | 135203380 | - | | |
NM_015046.7(SETX):c.3603T>C (p.Ile1201=) | 23064 | SETX | Likely benign | 565774066 | RCV001417071; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203382 | 135203382 | | | 9:g.135203382A>G | - | | |
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn) | 23064 | SETX | Uncertain significance | 149558692 | RCV001305121; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203396 | 135203396 | | | 135203396 | - | | |
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) | 23064 | SETX | Conflicting interpretations of pathogenicity | 376381668 | RCV000992933|RCV001060744; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203398 | 135203398 | | | 9:g.135203398T>C | - | | |
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) | 23064 | SETX | Benign | 1185193 | RCV000081694|RCV000278408|RCV000389540|RCV000713208|RCV001522462; | N | MedGen: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:C18 | 9 | 135203409 | 135203409 | | | 9:g.135203409A>C | ClinGen:CA148713,UniProtKB:Q7Z333#VAR_018784 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) | 23064 | SETX | Benign | 35473230 | RCV001084588|RCV000713207|RCV001726287|RCV003233777|RCV003233778; | N | MONDO: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:C186 | 9 | 135203417 | 135203417 | | | NC_000009.11:g.135203417T>C | ClinGen:CA5297373 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3567T>C (p.Asn1189=) | 23064 | SETX | Likely benign | -1 | RCV002780148; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203418 | 135203418 | | | | - | | |
NM_015046.7(SETX):c.3555G>A (p.Gln1185=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 762171056 | RCV001848120|RCV002077332; | N | 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:64753 | 9 | 135203430 | 135203430 | | | 135203430 | - | | |
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr) | 23064 | SETX | Uncertain significance | 1846954116 | RCV001068747; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203441 | 135203441 | | | 9:g.135203441T>A | - | | |
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del) | 23064 | SETX | Uncertain significance | -1 | RCV002852782; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203448 | 135203450 | | | NC_000009.11:g.135203448AGA[1] | - | | |
NM_015046.7(SETX):c.3525G>A (p.Arg1175=) | 23064 | SETX | Likely benign | 1353053473 | RCV002540178; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203460 | 135203460 | | | 9:g.135203460C>T | - | | |
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala) | 23064 | SETX | Uncertain significance | 141996565 | RCV001346498; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203468 | 135203468 | | | 135203468 | - | | |
NM_015046.7(SETX):c.3505A>G (p.Met1169Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 573849874 | RCV001371621|RCV002070244; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135203480 | 135203480 | | | 135203480 | - | | |
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) | 23064 | SETX | Uncertain significance | 1554820858 | RCV000623279|RCV001093199|RCV003233763|RCV003233764; | N | MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203488 | 135203488 | | | NC_000009.11:g.135203488T>C | ClinGen:CA375330251 | C0950123 Inborn genetic diseases; | |
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) | 23064 | SETX | Uncertain significance | 748505684 | RCV000706730; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203516 | 135203516 | | | NC_000009.11:g.135203516C>A | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) | 23064 | SETX | Uncertain significance | 1297541939 | RCV000644826; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203523 | 135203523 | | | 9:g.135203523T>G | ClinGen:CA375330395 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) | 23064 | SETX | Benign | 3739922 | RCV000081693|RCV000335767|RCV000398565|RCV000576443|RCV001705760; | N | MedGen: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:60600 | 9 | 135203530 | 135203530 | | | 9:g.135203530A>C | ClinGen:CA148710,UniProtKB:Q7Z333#VAR_018783 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3450A>G (p.Glu1150=) | 23064 | SETX | Likely benign | 771495291 | RCV001497646; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203535 | 135203535 | | | 9:g.135203535T>C | - | | |
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp) | 23064 | SETX | Benign | 375796832 | RCV000817426; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203552 | 135203552 | | | 9:g.135203552G>A | - | | |
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser) | 23064 | SETX | Benign | -1 | RCV002662820; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203556 | 135203556 | | | NC_000009.11:g.135203556T>A | - | | |
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala) | 23064 | SETX | Benign | -1 | RCV003069646; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203561 | 135203561 | | | NC_000009.11:g.135203561T>C | - | | |
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) | 23064 | SETX | Uncertain significance | 1554820904 | RCV000644834; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203563 | 135203563 | | | NC_000009.11:g.135203563T>A | ClinGen:CA375330567 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp) | 23064 | SETX | Likely benign | -1 | RCV002904432; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203568 | 135203568 | | | NC_000009.11:g.135203568T>G | - | | |
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) | 23064 | SETX | Uncertain significance | 62576475 | RCV001579904|RCV001847306|RCV002458544|RCV003234084|RCV003234085; | N | MedGen: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:357043 | 9 | 135203575 | 135203575 | | | 135203575 | - | | |
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) | 23064 | SETX | Uncertain significance | 778505279 | RCV001220091|RCV002451502|RCV003233999|RCV003234000; | N | 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:0011223,MedGen:C186540 | 9 | 135203600 | 135203600 | | | 9:g.135203600C>T | - | | |
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) | 23064 | SETX | Uncertain significance | 907569728 | RCV002043030|RCV002458989|RCV003234161|RCV003234162; | N | 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:0011223,MedGen:C186540 | 9 | 135203609 | 135203609 | | | 135203609 | - | | |
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala) | 23064 | SETX | Uncertain significance | 866546546 | RCV001899166; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203615 | 135203615 | | | 135203615 | - | | |
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp) | 23064 | SETX | Uncertain significance | 1278965355 | RCV001901656; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203626 | 135203626 | | | 135203626 | - | | |
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp) | 23064 | SETX | Benign | 200072123 | RCV001322116; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203630 | 135203630 | | | 135203630 | - | | |
NM_015046.7(SETX):c.3351T>C (p.Thr1117=) | 23064 | SETX | Likely benign | 1846972454 | RCV001423470; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203634 | 135203634 | | | 135203634 | - | | |
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) | 23064 | SETX | Uncertain significance | 1564541749 | RCV000713206|RCV001212840|RCV003233837|RCV003233838; | N | MedGen: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:602433 | 9 | 135203635 | 135203635 | | | NC_000009.11:g.135203635G>A | - | | |
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 142020270 | RCV000252372|RCV001085624|RCV001311796|RCV001848032|RCV002321932; | N | MedGen: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:C0950123 | 9 | 135203640 | 135203640 | | | NC_000009.11:g.135203640G>C | ClinGen:CA5297423 | CN169374 not specified; | |
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 760535401 | RCV000688257|RCV002325367; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135203644 | 135203644 | | | NC_000009.11:g.135203644A>G | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) | 23064 | SETX | Benign/Likely benign | 150687078 | RCV000517155|RCV000873785|RCV001579572|RCV001848901|RCV002323882|RCV003233681|RCV003233682; | N | MedGen: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|MO | 9 | 135203649 | 135203649 | | | NC_000009.11:g.135203649A>G | ClinGen:CA5297427 | CN169374 not specified; | |
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) | 23064 | SETX | Uncertain significance | 1564541841 | RCV000703662|RCV001333801|RCV003233828; | N | 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:606002, Orphanet:64753 | 9 | 135203653 | 135203653 | | | 9:g.135203653A>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 113831637 | RCV000300578|RCV000339216|RCV000518711|RCV001084428|RCV002450943; | N | 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:C1865409,OMIM:602433 | 9 | 135203675 | 135203675 | | | NC_000009.11:g.135203675G>C | ClinGen:CA5297433 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser) | 23064 | SETX | Benign | 545072717 | RCV001068336; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203686 | 135203686 | | | 9:g.135203686T>C | - | | |
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 545072717 | RCV001058491|RCV003425902; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135203686 | 135203686 | | | 9:g.135203686T>G | - | | |
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) | 23064 | SETX | Uncertain significance | 1230355404 | RCV001772529|RCV003234107|RCV002544021|RCV003234108; | N | 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:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135203687 | 135203687 | | | 135203687 | - | | |
NM_015046.7(SETX):c.3297T>C (p.Asp1099=) | 23064 | SETX | Likely benign | 777404209 | RCV002200938; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203688 | 135203688 | | | 135203688 | - | | |
NM_015046.7(SETX):c.3294C>T (p.Asp1098=) | 23064 | SETX | Likely benign | 61732723 | RCV002092339; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203691 | 135203691 | | | 135203691 | - | | |
NM_015046.7(SETX):c.3288_3291del (p.His1096fs) | 23064 | SETX | Pathogenic | -1 | RCV002889805; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203694 | 135203697 | | | NC_000009.11:g.135203696_135203699del | - | | |
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys) | 23064 | SETX | Uncertain significance | -1 | RCV002631344; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203706 | 135203706 | | | NC_000009.11:g.135203706C>A | - | | |
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe) | 23064 | SETX | Uncertain significance | 139559547 | RCV002026738; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203725 | 135203725 | | | 135203725 | - | | |
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu) | 23064 | SETX | Pathogenic | 2131444517 | RCV001353342; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203738 | 135203738 | | | 135203738 | - | | |
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser) | 23064 | SETX | Uncertain significance | 1564542121 | RCV001647240; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203743 | 135203743 | | | 135203743 | - | | |
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 145097270 | RCV000515959|RCV000517650|RCV001082564|RCV001167391|RCV001168005|RCV001283502|RCV002446949|RCV003105922; | N | MONDO: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:606002 | 9 | 135203756 | 135203756 | | | 9:g.135203756C>T | ClinGen:CA5297445 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) | 23064 | SETX | Uncertain significance | 752140967 | RCV000516544|RCV002448561|RCV003233680|RCV003233679; | N | MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203764 | 135203764 | | | 9:g.135203764T>C | ClinGen:CA5297447 | CN169374 not specified; | |
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg) | 23064 | SETX | Uncertain significance | -1 | RCV003018253; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203770 | 135203770 | | | NC_000009.11:g.135203770T>C | - | | |
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) | 23064 | SETX | Likely benign | 145014082 | RCV000876380|RCV002064851|RCV003233877|RCV003233878; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135203775 | 135203775 | | | 9:g.135203775A>G | - | | |
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val) | 23064 | SETX | Uncertain significance | 931570379 | RCV002049648|RCV003418355; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753| | 9 | 135203777 | 135203777 | | | 135203777 | - | | |
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) | 23064 | SETX | Likely benign | 200585636 | RCV001562318|RCV002070389|RCV003234080|RCV003234079; | N | 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:C1853761,OMIM:60600 | 9 | 135203778 | 135203778 | | | 135203778 | - | | |
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) | 23064 | SETX | Conflicting interpretations of pathogenicity | 374091487 | RCV000304137|RCV000393561|RCV001810866|RCV002323570|RCV002523743; | N | 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; MONDO:MONDO:001122 | 9 | 135203785 | 135203785 | | | NC_000009.11:g.135203785G>A | ClinGen:CA5297452 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002322805|RCV003099274; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203798 | 135203798 | | | 135203798 | - | | |
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) | 23064 | SETX | Benign | 12352982 | RCV000713203|RCV001086411|RCV001168006|RCV001168007|RCV001700207|RCV001848952; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135203803 | 135203803 | | | NC_000009.11:g.135203803G>A | ClinGen:CA5297454 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser) | 23064 | SETX | Uncertain significance | -1 | RCV002580385; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203804 | 135203804 | | | NC_000009.11:g.135203804G>A | - | | |
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) | 23064 | SETX | Likely benign | 576141809 | RCV000545338|RCV002323993|RCV003233713|RCV003233714; | N | 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:0011223,MedGen:C186540 | 9 | 135203818 | 135203823 | | | NC_000009.11:g.135203821_135203826del | ClinGen:CA5297458 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002320942|RCV003099247; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203824 | 135203824 | | | 135203824 | - | | |
NM_015046.7(SETX):c.3147C>T (p.His1049=) | 23064 | SETX | Benign | 3739921 | RCV000173867|RCV000268689|RCV000361004|RCV000713202|RCV001516019; | N | MedGen: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:C186 | 9 | 135203838 | 135203838 | | | 9:g.135203838G>A | ClinGen:CA200746 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) | 23064 | SETX | Conflicting interpretations of pathogenicity | 886063555 | RCV000307504|RCV000364537|RCV000518443|RCV001243853; | N | MONDO: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:60600 | 9 | 135203868 | 135203868 | | | NC_000009.11:g.135203868T>C | ClinGen:CA10629238 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) | 23064 | SETX | Uncertain significance | 372529790 | RCV001754372|RCV002543933|RCV003234096|RCV003234097; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203870 | 135203870 | | | 135203870 | - | | |
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) | 23064 | SETX | Benign/Likely benign | 117229601 | RCV000273166|RCV000330552|RCV001509825|RCV001662353; | N | 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:602433, Orphanet:357043 | 9 | 135203882 | 135203882 | | | NC_000009.11:g.135203882T>C | ClinGen:CA5297473 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.3099C>T (p.Leu1033=) | 23064 | SETX | Likely benign | 755461440 | RCV002119409; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203886 | 135203886 | | | 135203886 | - | | |
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn) | 23064 | SETX | Uncertain significance | 1846998334 | RCV002024757; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203889 | 135203889 | | | 135203889 | - | | |
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) | 23064 | SETX | Likely benign | 368677513 | RCV000242019|RCV000878719|RCV002321931|RCV003233519|RCV003233518; | N | MedGen:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203895 | 135203895 | | | NC_000009.11:g.135203895A>G | ClinGen:CA5297477 | CN169374 not specified; | |
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) | 23064 | SETX | Benign/Likely benign | 572772837 | RCV000488124|RCV001080988|RCV001262694|RCV001662567|RCV002319535|RCV001848951|RCV003233712; | N | 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|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MO | 9 | 135203910 | 135203911 | | | NC_000009.11:g.135203911TCA[7] | ClinGen:CA5297479 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) | 23064 | SETX | Conflicting interpretations of pathogenicity | 572772837 | RCV000517712|RCV000762581|RCV000791112|RCV001503652|RCV002319518; | N | MedGen: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:C0950123 | 9 | 135203911 | 135203913 | | | NC_000009.11:g.135203911TCA[5] | ClinGen:CA5297480 | | |
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) | 23064 | SETX | Uncertain significance | 572772837 | RCV000644820|RCV002286770|RCV002449037|RCV003233774|RCV003233773|RCV003330860; | N | MONDO: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:00189 | 9 | 135203911 | 135203916 | | | 9:g.135203911_135203916del | ClinGen:CA5297481 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 749204574 | RCV000321789|RCV001222571|RCV002519195; | N | MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135203929 | 135203929 | | | 9:g.135203929G>T | ClinGen:CA5297486 | CN169374 not specified; | |
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly) | 23064 | SETX | Uncertain significance | 768510428 | RCV000698718; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203932 | 135203932 | | | NC_000009.11:g.135203932T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) | 23064 | SETX | Uncertain significance | 765663814 | RCV001768773|RCV002449412|RCV003234103|RCV003234104; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203937 | 135203939 | | | 135203936 | - | | |
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) | 23064 | SETX | Uncertain significance | 200856903 | RCV001260221|RCV002447240|RCV003234016|RCV003234015; | N | Human 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:64753 | 9 | 135203938 | 135203938 | | | 9:g.135203938A>G | - | | |
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) | 23064 | SETX | Uncertain significance | 761243379 | RCV000795770|RCV002442634|RCV002473139|RCV003233851|RCV003233852; | N | 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:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:001122 | 9 | 135203945 | 135203945 | | | 9:g.135203945T>C | - | | |
NM_015046.7(SETX):c.3037_3039del (p.Val1013del) | 23064 | SETX | Uncertain significance | -1 | RCV002756195; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203946 | 135203948 | | | NC_000009.11:g.135203946_135203948del | - | | |
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile) | 23064 | SETX | Benign | 773068299 | RCV001863960; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203948 | 135203948 | | | 135203948 | - | | |
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) | 23064 | SETX | Conflicting interpretations of pathogenicity | 370781594 | RCV000521273|RCV001306845|RCV001662531|RCV002438262; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN169374|MeSH:D030342,MedGen:C0950123 | 9 | 135203956 | 135203956 | | | NC_000009.11:g.135203956C>T | ClinGen:CA5297494 | | |
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) | 23064 | SETX | Uncertain significance | 766799023 | RCV000516603|RCV001851461|RCV003233678|RCV003233677|RCV003409739; | N | MedGen: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:60600 | 9 | 135203957 | 135203957 | | | NC_000009.11:g.135203957G>A | ClinGen:CA5297495 | CN169374 not specified; | |
NM_015046.7(SETX):c.3027C>T (p.Ser1009=) | 23064 | SETX | Likely benign | -1 | RCV002833551; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203958 | 135203958 | | | | - | | |
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe) | 23064 | SETX | Benign | -1 | RCV002885491; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203959 | 135203959 | | | NC_000009.11:g.135203959G>A | - | | |
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) | 23064 | SETX | Uncertain significance | 372021275 | RCV001644614|RCV002438248|RCV003233675|RCV003233676; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203962 | 135203962 | | | 9:g.135203962G>C | ClinGen:CA5297497 | CN169374 not specified; | |
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) | 23064 | SETX | Uncertain significance | 1847007637 | RCV001168776|RCV001168777; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203964 | 135203964 | | | 9:g.135203964A>T | - | | |
NM_015046.7(SETX):c.3018A>C (p.Gly1006=) | 23064 | SETX | Likely benign | 997364371 | RCV001480025; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203967 | 135203967 | | | 9:g.135203967T>G | - | | |
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 141266068 | RCV000517441|RCV000644833|RCV001311797|RCV002438247; | N | MedGen:CN169374|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 135203969 | 135203969 | | | 9:g.135203969C>T | ClinGen:CA5297499 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) | 23064 | SETX | Conflicting interpretations of pathogenicity | 77984885 | RCV000507293|RCV000552319|RCV001089104|RCV002438234; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135203975 | 135203975 | | | 9:g.135203975T>C | ClinGen:CA5297500 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2994C>T (p.Phe998=) | 23064 | SETX | Likely benign | 534579992 | RCV001445280; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135203991 | 135203991 | | | 135203991 | - | | |
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr) | 23064 | SETX | Likely benign | -1 | RCV002834779; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203995 | 135203995 | | | NC_000009.11:g.135203995C>T | - | | |
NM_015046.7(SETX):c.2988A>G (p.Arg996=) | 23064 | SETX | Uncertain significance | 1358681495 | RCV001974687; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135203997 | 135203997 | | | 135203997 | - | | |
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1285317289 | RCV001811831|RCV001869470; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204000 | 135204000 | | | 135204000 | - | | |
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) | 23064 | SETX | Benign/Likely benign | 149546633 | RCV000874168|RCV001089117|RCV002434138|RCV003233871|RCV003233872; | N | MedGen: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:001122 | 9 | 135204004 | 135204004 | | | 9:g.135204004T>C | - | | |
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 61742937 | RCV000250229|RCV000387370|RCV000541126|RCV001168778|RCV001391479|RCV001706351|RCV001848031; | N | MedGen: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:60600 | 9 | 135204010 | 135204010 | | | 9:g.135204010T>C | ClinGen:CA5297507,UniProtKB:Q7Z333#VAR_071684 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) | 23064 | SETX | Pathogenic | 587776536 | RCV000002377; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204014 | 135204018 | | | 9:g.135204014_135204018del | ClinGen:CA252180,OMIM:608465.0004 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.2964A>G (p.Gln988=) | 23064 | SETX | Likely benign | -1 | RCV003009356; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204021 | 135204021 | | | | - | | |
NM_015046.7(SETX):c.2958G>A (p.Gln986=) | 23064 | SETX | Likely benign | 969060686 | RCV000644843|RCV002440310|RCV003233783|RCV003233784; | N | 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:0011223,MedGen:C186540 | 9 | 135204027 | 135204027 | | | NC_000009.11:g.135204027C>T | ClinGen:CA200812013 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2955G>A (p.Ser985=) | 23064 | SETX | Likely benign | 201251074 | RCV000946067|RCV001466657|RCV003233887|RCV003233886; | N | 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:C1853761,OMIM:60600 | 9 | 135204030 | 135204030 | | | 9:g.135204030C>T | - | | |
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu) | 23064 | SETX | Likely benign | 557074957 | RCV000877104; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204031 | 135204031 | | | 9:g.135204031G>A | - | | |
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) | 23064 | SETX | Uncertain significance | 138287942 | RCV001870813|RCV002282623|RCV002440950|RCV003234125|RCV003234126; | N | 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|MONDO:MONDO:001122 | 9 | 135204050 | 135204050 | | | 135204050 | - | | |
NM_015046.7(SETX):c.2934C>T (p.Ser978=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 144154512 | RCV001458668|RCV001165885|RCV001168779; | N | 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:602433, Orphanet:357043 | 9 | 135204051 | 135204051 | | | 9:g.135204051G>A | - | | |
NM_015046.7(SETX):c.2924C>T (p.Thr975Met) | 23064 | SETX | Benign | 200722368 | RCV001058490; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204061 | 135204061 | | | 9:g.135204061G>A | - | | |
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 765768857 | RCV001367523|RCV003388005|RCV003246955; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123 | 9 | 135204064 | 135204064 | | | 135204064 | - | | |
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly) | 23064 | SETX | Uncertain significance | 1354775471 | RCV001945943; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204071 | 135204071 | | | 135204071 | - | | |
NM_015046.7(SETX):c.2907T>A (p.Ala969=) | 23064 | SETX | Benign | -1 | RCV003077500; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204078 | 135204078 | | | | - | | |
NM_015046.7(SETX):c.2895A>G (p.Leu965=) | 23064 | SETX | Likely benign | -1 | RCV003089790; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204090 | 135204090 | | | | - | | |
NM_015046.7(SETX):c.2887C>T (p.His963Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002474448|RCV002569402; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204098 | 135204098 | | | NC_000009.11:g.135204098G>A | - | | |
NM_015046.7(SETX):c.2865T>C (p.Asp955=) | 23064 | SETX | Likely benign | 368932478 | RCV002199173; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204120 | 135204120 | | | 135204120 | - | | |
NM_015046.7(SETX):c.2862G>A (p.Thr954=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 149610510 | RCV000518240|RCV001857928|RCV002438246|RCV003431058; | N | MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 9 | 135204123 | 135204123 | | | 9:g.135204123C>T | ClinGen:CA5297523 | CN169374 not specified; | |
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala) | 23064 | SETX | Uncertain significance | 1375463032 | RCV000533100; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204131 | 135204131 | | | NC_000009.11:g.135204131T>C | ClinGen:CA375333512 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) | 23064 | SETX | Uncertain significance | 1847020598 | RCV001236607|RCV002436925|RCV003234010|RCV003234011; | N | 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:0011223,MedGen:C186540 | 9 | 135204136 | 135204136 | | | 9:g.135204136G>T | - | | |
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) | 23064 | SETX | Uncertain significance | 778882347 | RCV000517506|RCV001755772|RCV003233673|RCV003233674; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204143 | 135204143 | | | 9:g.135204143G>T | ClinGen:CA375333570 | CN169374 not specified; | |
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser) | 23064 | SETX | Likely benign | 778882347 | RCV002004266; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204143 | 135204143 | | | 135204143 | - | | |
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) | 23064 | SETX | Uncertain significance | 770694223 | RCV001207270|RCV001706721|RCV003233992; | N | 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:606002, Orphanet:64753 | 9 | 135204197 | 135204197 | | | 9:g.135204197T>C | - | | |
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn) | 23064 | SETX | Uncertain significance | 1258279869 | RCV001315191; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204202 | 135204202 | | | 135204202 | - | | |
NM_015046.7(SETX):c.2779A>G (p.Met927Val) | 23064 | SETX | Uncertain significance | 886063556 | RCV000276603|RCV000334257|RCV003441851; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135204206 | 135204206 | | | NC_000009.11:g.135204206T>C | ClinGen:CA10632617 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del) | 23064 | SETX | Uncertain significance | -1 | RCV002775512; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204207 | 135204209 | | | NC_000009.11:g.135204207CTC[1] | - | | |
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 561190371 | RCV000644837|RCV000992932|RCV001262697|RCV001270092|RCV002440309|RCV003317317; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135204230 | 135204230 | | | 9:g.135204230C>G | ClinGen:CA5297536 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 376022544 | RCV000713201|RCV001042487|RCV002265868|RCV002440565|RCV003403647; | N | MedGen: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| | 9 | 135204235 | 135204235 | | | NC_000009.11:g.135204235A>G | - | | |
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) | 23064 | SETX | Uncertain significance | 761943404 | RCV000644835; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204236 | 135204236 | | | 9:g.135204236T>G | ClinGen:CA5297539 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2730A>C (p.Ser910=) | 23064 | SETX | Likely benign | 764898504 | RCV000644847|RCV002458085|RCV003233787|RCV003233788; | N | 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:0011223,MedGen:C186540 | 9 | 135204255 | 135204255 | | | 9:g.135204255T>G | ClinGen:CA5297543 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu) | 23064 | SETX | Likely benign | -1 | RCV003109057; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204256 | 135204256 | | | NC_000009.11:g.135204256G>A | - | | |
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 148375192 | RCV000552679|RCV001165886|RCV001165887|RCV002431641; | N | 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:606002, Orphanet:64753 | 9 | 135204268 | 135204268 | | | NC_000009.11:g.135204268G>A | ClinGen:CA5297546 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) | 23064 | SETX | Uncertain significance | 1320466105 | RCV001165889|RCV001165888; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204287 | 135204287 | | | 9:g.135204287T>C | - | | |
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe) | 23064 | SETX | Conflicting interpretations of pathogenicity | 370551247 | RCV002146250|RCV002252771|RCV002454541; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753||MeSH:D030342,MedGen:C0950123 | 9 | 135204297 | 135204297 | | | 135204297 | - | | |
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 148181729 | RCV000280363|RCV000372562|RCV000644850|RCV000789558|RCV001079301|RCV001848726; | N | MONDO: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:6 | 9 | 135204313 | 135204313 | | | NC_000009.11:g.135204313A>G | ClinGen:CA5297553 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2646C>T (p.Asn882=) | 23064 | SETX | Likely benign | -1 | RCV002726679; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204339 | 135204339 | | | | - | | |
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys) | 23064 | SETX | Uncertain significance | -1 | RCV002982355; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204344 | 135204344 | | | NC_000009.11:g.135204344C>T | - | | |
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu) | 23064 | SETX | Uncertain significance | 2131450530 | RCV001883194; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204350 | 135204350 | | | 135204350 | - | | |
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser) | 23064 | SETX | Uncertain significance | -1 | RCV002891038; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204373 | 135204373 | | | NC_000009.11:g.135204373T>C | - | | |
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) | 23064 | SETX | Pathogenic | 121434377 | RCV000002375; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204383 | 135204383 | | | 9:g.135204383G>A | ClinGen:CA252175,OMIM:608465.0002 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002632119|RCV003156390; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202 | 9 | 135204394 | 135204394 | | | NC_000009.11:g.135204394G>A | - | | |
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser) | 23064 | SETX | Benign | -1 | RCV003073352; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204403 | 135204403 | | | NC_000009.11:g.135204403T>C | - | | |
NM_015046.7(SETX):c.2552A>T (p.Asp851Val) | 23064 | SETX | Likely benign | 375242350 | RCV001045087; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204433 | 135204433 | | | 9:g.135204433T>A | - | | |
NM_015046.7(SETX):c.2543T>G (p.Val848Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | 567711722 | RCV001758833|RCV001847330|RCV002540424|RCV003416435|RCV003446904; | N | MedGen: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:60243 | 9 | 135204442 | 135204442 | | | 135204442 | - | | |
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg) | 23064 | SETX | Uncertain significance | 774820992 | RCV001898238; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204449 | 135204449 | | | 135204449 | - | | |
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) | 23064 | SETX | Uncertain significance | 1847046317 | RCV001065429|RCV001167457|RCV001167458; | N | 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:602433, Orphanet:357043 | 9 | 135204452 | 135204452 | | | 9:g.135204452G>A | - | | |
NM_015046.7(SETX):c.2517C>T (p.His839=) | 23064 | SETX | Uncertain significance | 1464623855 | RCV001167459|RCV001167460; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204468 | 135204468 | | | 9:g.135204468G>A | - | | |
NM_015046.7(SETX):c.2516A>T (p.His839Leu) | 23064 | SETX | Uncertain significance | 1847047743 | RCV001321620; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204469 | 135204469 | | | 135204469 | - | | |
NM_015046.7(SETX):c.2502A>G (p.Gly834=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 762818441 | RCV000659130|RCV001287952|RCV001473215|RCV001849033|RCV002424561; | N | MedGen: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:C0950123 | 9 | 135204483 | 135204483 | | | 9:g.135204483T>C | - | CN517202 not provided; | |
NM_015046.7(SETX):c.2490A>C (p.Gly830=) | 23064 | SETX | Likely benign | 751429987 | RCV000992931|RCV001496703|RCV001847125|RCV003233889|RCV003233890; | N | MedGen: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:606002 | 9 | 135204495 | 135204495 | | | 9:g.135204495T>G | - | | |
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 150532677 | RCV000540061|RCV000762582|RCV001000648|RCV001167462|RCV001167461|RCV001848950|RCV002252164|RCV002456164; | N | MONDO: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:C18 | 9 | 135204506 | 135204506 | | | 9:g.135204506T>C | ClinGen:CA5297587 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys) | 23064 | SETX | Benign | 544815791 | RCV001307120; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204514 | 135204514 | | | 135204514 | - | | |
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 141163823 | RCV000337733|RCV000375508|RCV001662354|RCV001509826; | N | MONDO: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:602433 | 9 | 135204516 | 135204516 | | | NC_000009.11:g.135204516G>C | ClinGen:CA5297588 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 369470593 | RCV000527749|RCV002456163; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135204539 | 135204539 | | | NC_000009.11:g.135204539T>C | ClinGen:CA5297590 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) | 23064 | SETX | Uncertain significance | 190841601 | RCV001168072|RCV001168071; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204546 | 135204546 | | | 9:g.135204546T>G | - | | |
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002948223|RCV003409981; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753| | 9 | 135204569 | 135204569 | | | NC_000009.11:g.135204569C>T | - | | |
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) | 23064 | SETX | Conflicting interpretations of pathogenicity | 201096140 | RCV000644819|RCV002458083; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135204574 | 135204574 | | | NC_000009.11:g.135204574A>G | ClinGen:CA5297599 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly) | 23064 | SETX | Likely benign | 1400027699 | RCV000644823; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204581 | 135204581 | | | 9:g.135204581T>C | ClinGen:CA375336078 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) | 23064 | SETX | Benign/Likely benign | 149718424 | RCV000489114|RCV001086400|RCV001662474|RCV002455945|RCV003233649|RCV003233650; | N | MedGen: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|MO | 9 | 135204584 | 135204584 | | | NC_000009.11:g.135204584T>C | ClinGen:CA5297601 | | |
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) | 23064 | SETX | Conflicting interpretations of pathogenicity | 761725498 | RCV000820064|RCV001311798|RCV002290467|RCV002442748; | N | MONDO: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:C0950123 | 9 | 135204586 | 135204586 | | | 9:g.135204586C>A | - | | |
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200459144 | RCV000517993|RCV000551603|RCV002448560; | N | MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135204590 | 135204590 | | | 9:g.135204590G>A | ClinGen:CA5297604 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) | 23064 | SETX | Uncertain significance | 1273786747 | RCV001644613|RCV001857927|RCV003233672|RCV003233671; | N | 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:C1853761,OMIM:60600 | 9 | 135204595 | 135204595 | | | 9:g.135204595T>C | ClinGen:CA375336137 | CN169374 not specified; | |
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) | 23064 | SETX | Pathogenic | 745775419 | RCV001232395|RCV001815521|RCV003234008; | N | 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 | 9 | 135204595 | 135204598 | | | 9:g.135204595_135204598del | - | | |
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) | 23064 | SETX | Uncertain significance | 1554821445 | RCV000644815; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204646 | 135204646 | | | NC_000009.11:g.135204646G>A | ClinGen:CA375336278 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala) | 23064 | SETX | Uncertain significance | 1481664998 | RCV001883477; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204647 | 135204647 | | | 135204647 | - | | |
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) | 23064 | SETX | Pathogenic/Likely pathogenic | 747501465 | RCV001268461|RCV001542669; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204653 | 135204653 | | | 9:g.135204653G>A | - | | |
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu) | 23064 | SETX | Uncertain significance | 2131453786 | RCV002001795; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204665 | 135204665 | | | 135204665 | - | | |
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) | 23064 | SETX | Uncertain significance | 1554821462 | RCV000539262; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204682 | 135204682 | | | 9:g.135204682T>A | ClinGen:CA375336357 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) | 23064 | SETX | Uncertain significance | 771954896 | RCV000283365|RCV000340751; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204690 | 135204690 | | | NC_000009.11:g.135204690G>T | ClinGen:CA5297624 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200153024 | RCV000526691|RCV002448727; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135204703 | 135204703 | | | 9:g.135204703G>A | ClinGen:CA5297629 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 373647065 | RCV001168074|RCV001168073|RCV001859091|RCV001531746|RCV002445405; | N | 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:606002, Orphanet:64753 | 9 | 135204707 | 135204707 | | | 9:g.135204707T>C | - | | |
NM_015046.7(SETX):c.2267A>T (p.Glu756Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 202036078 | RCV001904685|RCV002449490; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135204718 | 135204718 | | | 135204718 | - | | |
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | 764538703 | RCV001211390|RCV003398941; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753| | 9 | 135204724 | 135204724 | | | 9:g.135204724G>C | - | | |
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) | 23064 | SETX | Uncertain significance | 745938575 | RCV000644812|RCV002473087|RCV003233769|RCV003233770; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135204731 | 135204731 | | | 9:g.135204731T>C | ClinGen:CA5297637 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) | 23064 | SETX | Uncertain significance | 922821119 | RCV002009216|RCV002423244|RCV003234159|RCV003234160; | N | 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:0011223,MedGen:C186540 | 9 | 135204740 | 135204740 | | | 135204740 | - | | |
NM_015046.7(SETX):c.2234G>A (p.Arg745His) | 23064 | SETX | Benign | 373933140 | RCV002030903; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204751 | 135204751 | | | 135204751 | - | | |
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) | 23064 | SETX | Conflicting interpretations of pathogenicity | 780121182 | RCV001531747|RCV002568198; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204752 | 135204752 | | | 135204752 | - | | |
NM_015046.7(SETX):c.2232A>C (p.Thr744=) | 23064 | SETX | Likely benign | 749481788 | RCV000904586; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204753 | 135204753 | | | 9:g.135204753T>G | - | | |
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) | 23064 | SETX | Benign/Likely benign | 36024203 | RCV000306091|RCV000401603|RCV000515126|RCV001087113|RCV001706607|RCV001848727|RCV002418221; | N | 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:C1865409,OMIM:602433 | 9 | 135204769 | 135204769 | | | NC_000009.11:g.135204769C>T | ClinGen:CA5297642 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly) | 23064 | SETX | Uncertain significance | 2131454695 | RCV001921749; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204785 | 135204785 | | | 135204785 | - | | |
NM_015046.7(SETX):c.2190T>C (p.Asn730=) | 23064 | SETX | Likely benign | -1 | RCV003036331; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204795 | 135204795 | | | | - | | |
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) | 23064 | SETX | Uncertain significance | 377734748 | RCV000713200|RCV001232643|RCV002424738|RCV003233835|RCV003233836; | N | MedGen: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:001122 | 9 | 135204809 | 135204809 | | | NC_000009.11:g.135204809A>G | - | | |
NM_015046.7(SETX):c.2154C>A (p.Ile718=) | 23064 | SETX | Likely benign | -1 | RCV002811386; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204831 | 135204831 | | | | - | | |
NM_015046.7(SETX):c.2133G>A (p.Lys711=) | 23064 | SETX | Likely benign | 746772505 | RCV001489946; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204852 | 135204852 | | | 135204852 | - | | |
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) | 23064 | SETX | Uncertain significance | 750530263 | RCV001883125|RCV002473312|RCV003234128|RCV003234129; | N | 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:C1865409,OMIM:602433 | 9 | 135204860 | 135204860 | | | 135204860 | - | | |
NM_015046.7(SETX):c.2124T>C (p.Ser708=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 139236924 | RCV000644840|RCV001849023|RCV002422334|RCV003432685; | N | 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:C0950123|MedGen:C3661900 | 9 | 135204861 | 135204861 | | | NC_000009.11:g.135204861A>G | ClinGen:CA5297662 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) | 23064 | SETX | Uncertain significance | 1554821571 | RCV000644824; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204862 | 135204862 | | | NC_000009.11:g.135204862C>A | ClinGen:CA375336918 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2119A>G (p.Ile707Val) | 23064 | SETX | Benign | 1419145387 | RCV001232669; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204866 | 135204866 | | | 9:g.135204866T>C | - | | |
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs) | 23064 | SETX | Uncertain significance | -1 | RCV002291168; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204867 | 135204871 | | | 135204866 | - | | |
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu) | 23064 | SETX | Likely benign | 776432277 | RCV001213178; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204869 | 135204869 | | | 9:g.135204869T>C | - | | |
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) | 23064 | SETX | Benign/Likely benign | 34781846 | RCV000518054|RCV000549702|RCV001848900|RCV002420300|RCV003233669|RCV003233670; | N | MedGen: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:001899 | 9 | 135204872 | 135204872 | | | 9:g.135204872T>G | ClinGen:CA5297664 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 769620847 | RCV001287951|RCV001871701; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204884 | 135204884 | | | 135204884 | - | | |
NM_015046.7(SETX):c.2057G>T (p.Gly686Val) | 23064 | SETX | Uncertain significance | -1 | RCV002631639; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204928 | 135204928 | | | NC_000009.11:g.135204928C>A | - | | |
NM_015046.7(SETX):c.2037A>G (p.Leu679=) | 23064 | SETX | Likely benign | 1432462823 | RCV001492294; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204948 | 135204948 | | | 135204948 | - | | |
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 143727702 | RCV000537094|RCV000992930|RCV002420466; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 135204980 | 135204980 | | | 9:g.135204980T>A | ClinGen:CA5297680 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) | 23064 | SETX | Uncertain significance | 780898043 | RCV000344541|RCV000390382|RCV000803584; | N | 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:606002, Orphanet:64753 | 9 | 135204982 | 135204982 | | | NC_000009.11:g.135204982T>C | ClinGen:CA5297681 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn) | 23064 | SETX | Uncertain significance | -1 | RCV003081893; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204986 | 135204986 | | | NC_000009.11:g.135204986C>T | - | | |
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg) | 23064 | SETX | Benign | -1 | RCV002591718; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204989 | 135204989 | | | NC_000009.11:g.135204989C>G | - | | |
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) | 23064 | SETX | Uncertain significance | 773195802 | RCV001373070|RCV003234057|RCV003234058; | N | 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:602433, Orphanet:357043 | 9 | 135204991 | 135204996 | | | 135204990 | - | | |
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) | 23064 | SETX | Uncertain significance | 1339144218 | RCV001168841|RCV001168842; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204992 | 135204992 | | | 9:g.135204992C>G | - | | |
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys) | 23064 | SETX | Uncertain significance | 1339144218 | RCV001223185; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135204992 | 135204992 | | | 9:g.135204992C>T | - | | |
NM_015046.7(SETX):c.1986C>T (p.Asn662=) | 23064 | SETX | Likely benign | 1307680734 | RCV001462748; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135204999 | 135204999 | | | 135204999 | - | | |
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) | 23064 | SETX | Benign | 882709 | RCV000081692|RCV000309491|RCV000366991|RCV000576827|RCV001512048; | N | MedGen: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:C18 | 9 | 135205006 | 135205006 | | | 9:g.135205006G>C | ClinGen:CA148707,UniProtKB:Q7Z333#VAR_018781 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1968A>G (p.Val656=) | 23064 | SETX | Benign/Likely benign | 113997459 | RCV000644841|RCV001683622|RCV001849024|RCV003233779|RCV003233780|RCV002422335; | N | 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|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002 | 9 | 135205017 | 135205017 | | | NC_000009.11:g.135205017T>C | ClinGen:CA5297687 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr) | 23064 | SETX | Uncertain significance | -1 | RCV002731388; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205021 | 135205021 | | | NC_000009.11:g.135205021C>G | - | | |
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) | 23064 | SETX | Benign/Likely benign | 116333061 | RCV000644849|RCV001541751|RCV001848883|RCV003233661|RCV003233660; | N | 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|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135205028 | 135205028 | | | 9:g.135205028G>T | ClinGen:CA027112,UniProtKB:Q7Z333#VAR_036648,OMIM:608465.0010,ClinVar:441280 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu) | 23064 | SETX | Uncertain significance | 1015257691 | RCV001985794; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205034 | 135205034 | | | 135205034 | - | | |
NM_015046.7(SETX):c.1948A>G (p.Met650Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV003090688|RCV003404061; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374 | 9 | 135205037 | 135205037 | | | NC_000009.11:g.135205037T>C | - | | |
NM_015046.7(SETX):c.1942_1944del (p.Glu648del) | 23064 | SETX | Uncertain significance | -1 | RCV002588533; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205041 | 135205043 | | | NC_000009.11:g.135205043_135205045del | - | | |
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) | 23064 | SETX | Uncertain significance | 886063557 | RCV000274650|RCV000313496; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205063 | 135205063 | | | NC_000009.11:g.135205063G>C | ClinGen:CA10626636 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) | 23064 | SETX | Uncertain significance | 998278975 | RCV001891262; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205066 | 135205066 | | | 135205066 | - | | |
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr) | 23064 | SETX | Uncertain significance | -1 | RCV002654187; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205075 | 135205075 | | | NC_000009.11:g.135205075C>T | - | | |
NM_015046.7(SETX):c.1889C>T (p.Thr630Met) | 23064 | SETX | Conflicting interpretations of pathogenicity | 749132753 | RCV001232366|RCV002411856; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135205096 | 135205096 | | | 9:g.135205096G>A | - | | |
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr) | 23064 | SETX | Uncertain significance | 768673354 | RCV001910346; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205099 | 135205099 | | | 135205099 | - | | |
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 199707503 | RCV000272686|RCV001087861|RCV001165958|RCV001165957; | N | 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:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135205105 | 135205105 | | | 9:g.135205105A>G | ClinGen:CA5297703 | CN169374 not specified; | |
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) | 23064 | SETX | Conflicting interpretations of pathogenicity | 139200312 | RCV000143814|RCV000794428|RCV002408640; | N | MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135205116 | 135205116 | | | NC_000009.11:g.135205116T>G | ClinGen:CA233093 | CN517202 not provided; | |
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys) | 23064 | SETX | Benign | 773035724 | RCV001909014; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205121 | 135205121 | | | 135205121 | - | | |
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) | 23064 | SETX | Uncertain significance | 777081940 | RCV001663591|RCV002414293|RCV003234089|RCV003234090; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205127 | 135205127 | | | 135205127 | - | | |
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) | 23064 | SETX | Uncertain significance | 143340285 | RCV002044210; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205141 | 135205141 | | | 135205141 | - | | |
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr) | 23064 | SETX | Uncertain significance | -1 | RCV002644371; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205144 | 135205144 | | | NC_000009.11:g.135205144A>G | - | | |
NM_015046.7(SETX):c.1833A>G (p.Ala611=) | 23064 | SETX | Likely benign | 751829537 | RCV001414247; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205152 | 135205152 | | | 135205152 | - | | |
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala) | 23064 | SETX | Uncertain significance | 957434595 | RCV001922760; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205175 | 135205175 | | | 135205175 | - | | |
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) | 23064 | SETX | Benign/Likely benign | 116205032 | RCV000644848|RCV001085644|RCV001848884|RCV003233663|RCV003233662; | N | MedGen: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:602433 | 9 | 135205178 | 135205178 | | | 9:g.135205178T>C | ClinGen:CA026956,UniProtKB:Q7Z333#VAR_036647,OMIM:608465.0010,ClinVar:441280 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1338284039 | RCV002028744|RCV002407278; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135205194 | 135205194 | | | 135205194 | - | | |
NM_015046.7(SETX):c.1771A>G (p.Ile591Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002474452|RCV002571527; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205214 | 135205214 | | | NC_000009.11:g.135205214T>C | - | | |
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 188247474 | RCV000713199|RCV002532950|RCV002397497; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135205231 | 135205231 | | | NC_000009.11:g.135205231T>C | - | | |
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 764995848 | RCV000705240|RCV001759414|RCV002397476; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 135205235 | 135205235 | | | NC_000009.11:g.135205235G>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly) | 23064 | SETX | Uncertain significance | 770280073 | RCV001889313; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205253 | 135205253 | | | 135205253 | - | | |
NM_015046.7(SETX):c.1714C>G (p.Leu572Val) | 23064 | SETX | Uncertain significance | 1482836809 | RCV000821435; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205271 | 135205271 | | | 9:g.135205271G>C | - | | |
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) | 23064 | SETX | Benign/Likely benign | 143982186 | RCV000259196|RCV000370468|RCV001087211|RCV000873626; | N | 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:602433, Orphanet:357043 | 9 | 135205292 | 135205292 | | | NC_000009.11:g.135205292A>G | ClinGen:CA5297731 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 761877146 | RCV000518116|RCV000695046|RCV002413399; | N | MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135205295 | 135205295 | | | 9:g.135205295A>C | ClinGen:CA5297732 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1668G>A (p.Lys556=) | 23064 | SETX | Likely benign | 1328865930 | RCV000900024; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205317 | 135205317 | | | 9:g.135205317C>T | - | | |
NM_015046.7(SETX):c.1626C>T (p.Leu542=) | 23064 | SETX | Likely benign | 746541015 | RCV000548655|RCV001531748|RCV001662566|RCV002404484|RCV003233711|RCV003233710; | N | MONDO: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|M | 9 | 135205359 | 135205359 | | | NC_000009.11:g.135205359G>A | ClinGen:CA5297740 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1617T>A (p.Ile539=) | 23064 | SETX | Likely benign | -1 | RCV003038180; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205368 | 135205368 | | | | - | | |
NM_015046.7(SETX):c.1590T>C (p.Ser530=) | 23064 | SETX | Likely benign | -1 | RCV003019721; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205395 | 135205395 | | | | - | | |
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp) | 23064 | SETX | Uncertain significance | 1847120441 | RCV001322119; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205400 | 135205400 | | | 135205400 | - | | |
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe) | 23064 | SETX | Uncertain significance | -1 | RCV002398270|RCV003096972|RCV003234198|RCV003234199; | N | 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|MONDO:MONDO:0011223,MedGen:C186540 | 9 | 135205402 | 135205402 | | | 135205402 | - | | |
NM_015046.7(SETX):c.1576A>G (p.Met526Val) | 23064 | SETX | Uncertain significance | 762013471 | RCV000698602; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205409 | 135205409 | | | 9:g.135205409T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) | 23064 | SETX | Uncertain significance | 2131460183 | RCV001870562; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205412 | 135205412 | | | 135205412 | - | | |
NM_015046.7(SETX):c.1561C>T (p.Leu521=) | 23064 | SETX | Likely benign | 148638979 | RCV000536297|RCV002404483|RCV003233708|RCV003233709; | N | 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:0011223,MedGen:C186540 | 9 | 135205424 | 135205424 | | | 9:g.135205424G>A | ClinGen:CA5297753 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile) | 23064 | SETX | Uncertain significance | -1 | RCV002908652; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205441 | 135205441 | | | NC_000009.11:g.135205441G>A | - | | |
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala) | 23064 | SETX | Likely benign | -1 | RCV002899529; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205444 | 135205444 | | | NC_000009.11:g.135205444C>G | - | | |
NM_015046.7(SETX):c.1536C>T (p.Ser512=) | 23064 | SETX | Likely benign | 2131460559 | RCV002137862; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205449 | 135205449 | | | 135205449 | - | | |
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) | 23064 | SETX | Uncertain significance | 750044197 | RCV001000858|RCV002549143|RCV003233919|RCV003233920; | N | MedGen: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:602433 | 9 | 135205480 | 135205480 | | | 9:g.135205480C>T | - | | |
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) | 23064 | SETX | Conflicting interpretations of pathogenicity | 534723946 | RCV000143813|RCV000626102|RCV000790203|RCV000791025|RCV001523409; | N | MedGen: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:602433 | 9 | 135205481 | 135205481 | | | NC_000009.11:g.135205481G>A | ClinGen:CA233090 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1497G>A (p.Ala499=) | 23064 | SETX | Likely benign | 142936332 | RCV001410337; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205488 | 135205488 | | | 135205488 | - | | |
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 779544809 | RCV001165959|RCV001165960|RCV002558616; | N | 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:602433, Orphanet:357043 | 9 | 135205493 | 135205493 | | | 9:g.135205493T>C | - | | |
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro) | 23064 | SETX | Pathogenic | 2131461009 | RCV001872206; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205501 | 135205501 | | | 135205501 | - | | |
NM_015046.7(SETX):c.1479C>T (p.Ala493=) | 23064 | SETX | Likely benign | 771289068 | RCV001455504; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205506 | 135205506 | | | 135205506 | - | | |
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) | 23064 | SETX | Uncertain significance | 763545230 | RCV000700292|RCV000713198|RCV001644767|RCV002388306|RCV003233822|RCV003233823; | N | MONDO: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:D03 | 9 | 135205517 | 135205517 | | | 9:g.135205517C>T | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1467C>T (p.Val489=) | 23064 | SETX | Likely benign | 142093830 | RCV000713197|RCV002388357|RCV003233833|RCV003233834; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205518 | 135205518 | | | NC_000009.11:g.135205518G>A | - | | |
NM_015046.7(SETX):c.1464C>T (p.Ala488=) | 23064 | SETX | Likely benign | 139275155 | RCV002133321; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205521 | 135205521 | | | 135205521 | - | | |
NM_015046.7(SETX):c.1443T>C (p.Ser481=) | 23064 | SETX | Likely benign | -1 | RCV002592165; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205542 | 135205542 | | | | - | | |
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) | 23064 | SETX | Uncertain significance | 377301250 | RCV001322969; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205547 | 135205547 | | | 135205547 | - | | |
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) | 23064 | SETX | Uncertain significance | 777314512 | RCV000518598|RCV001229711|RCV001560100|RCV002395237|RCV003233665|RCV003233666; | N | MedGen: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|MO | 9 | 135205553 | 135205558 | | | NC_000009.11:g.135205558_135205563del | ClinGen:CA5297778 | | |
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr) | 23064 | SETX | Uncertain significance | 754200234 | RCV000812528; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205564 | 135205564 | | | 9:g.135205564C>T | - | | |
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) | 23064 | SETX | Uncertain significance | 886063558 | RCV000316819|RCV000373806; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205569 | 135205569 | | | NC_000009.11:g.135205569T>A | ClinGen:CA10626638 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser) | 23064 | SETX | Uncertain significance | 2131461800 | RCV002036690; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205588 | 135205588 | | | 135205588 | - | | |
NM_015046.7(SETX):c.1392A>G (p.Ser464=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 144164119 | RCV000517536|RCV001463467|RCV001848899|RCV002395236; | N | MedGen: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 | 9 | 135205593 | 135205593 | | | NC_000009.11:g.135205593T>C | ClinGen:CA5297784 | CN169374 not specified; | |
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 200614765 | RCV000262880|RCV000320659|RCV000687686|RCV002472998|RCV002392927; | N | 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:602433, Orphanet:357043 | 9 | 135205594 | 135205594 | | | NC_000009.11:g.135205594G>A | ClinGen:CA5297785 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 201441886 | RCV000702549|RCV001167523|RCV001167524|RCV001662774|RCV002386256; | N | 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:606002, Orphanet:64753 | 9 | 135205611 | 135205611 | | | 9:g.135205611A>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) | 23064 | SETX | Uncertain significance | 886063559 | RCV000285406|RCV000377591; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205627 | 135205627 | | | NC_000009.11:g.135205627T>C | ClinGen:CA10626639 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | 370363342 | RCV000992929|RCV000695198|RCV002386213; | N | MedGen:CN517202|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135205642 | 135205642 | | | 9:g.135205642T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1338A>G (p.Gln446=) | 23064 | SETX | Likely benign | -1 | RCV002944060; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205647 | 135205647 | | | | - | | |
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 778488721 | RCV001093200|RCV002554866; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205697 | 135205697 | | | 9:g.135205697C>T | - | | |
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) | 23064 | SETX | Uncertain significance | 747053403 | RCV000992928|RCV001198874|RCV003233888; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205700 | 135205700 | | | 9:g.135205700T>C | - | | |
NM_015046.7(SETX):c.1260T>C (p.Asp420=) | 23064 | SETX | Likely benign | 2131462924 | RCV002214754; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205725 | 135205725 | | | 135205725 | - | | |
NM_015046.7(SETX):c.1227A>G (p.Leu409=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 769913556 | RCV001847553|RCV002227284|RCV002543367; | N | MONDO: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 | 9 | 135205758 | 135205758 | | | 135205758 | - | | |
NM_015046.7(SETX):c.1221A>G (p.Thr407=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 377618570 | RCV001000987|RCV001168148|RCV001167525|RCV001499712; | N | 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:C1865409,OMIM:602433 | 9 | 135205764 | 135205764 | | | 9:g.135205764T>C | - | | |
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) | 23064 | SETX | Uncertain significance | 772044862 | RCV000690836|RCV002544893|RCV003233817|RCV003233818; | N | 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:0011223,MedGen:C186540 | 9 | 135205781 | 135205781 | | | NC_000009.11:g.135205781G>A | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) | 23064 | SETX | Pathogenic | 29001584 | RCV000002379|RCV000644828|RCV000724322|RCV000789615|RCV003233065; | N | 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|MedGen:CN517202|MONDO:MONDO:0018894,MedGen:C0393541, Orphanet:5 | 9 | 135205819 | 135205819 | | | NC_000009.11:g.135205819A>G | ClinGen:CA252183,UniProtKB:Q7Z333#VAR_018779,OMIM:608465.0006 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) | 23064 | SETX | Uncertain significance | 1554821963 | RCV000644825; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205832 | 135205832 | | | 9:g.135205832C>T | ClinGen:CA375345398 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.1146G>A (p.Met382Ile) | 23064 | SETX | Uncertain significance | -1 | RCV002639973; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205839 | 135205839 | | | NC_000009.11:g.135205839C>T | - | | |
NM_015046.7(SETX):c.1140T>G (p.Pro380=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 140553290 | RCV001813050|RCV001847229|RCV002542980; | N | MedGen: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 | 9 | 135205845 | 135205845 | | | 135205845 | - | | |
NM_015046.7(SETX):c.1099-7A>G | 23064 | SETX | Likely benign | 764675117 | RCV002109916; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205893 | 135205893 | | | 135205893 | - | | |
NM_015046.7(SETX):c.1099-12C>A | 23064 | SETX | Likely benign | 752063617 | RCV002109419; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135205898 | 135205898 | | | 135205898 | - | | |
NM_015046.7(SETX):c.1099-13del | 23064 | SETX | Likely benign | -1 | RCV002947809; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205899 | 135205899 | | | NC_000009.11:g.135205901del | - | | |
NM_015046.7(SETX):c.1099-17C>T | 23064 | SETX | Likely benign | -1 | RCV002633597; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135205903 | 135205903 | | | NC_000009.11:g.135205903G>A | - | | |
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) | 23064 | SETX | Uncertain significance | 768198537 | RCV001990970|RCV002425372|RCV003234149|RCV003234150; | N | 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:0011223,MedGen:C186540 | 9 | 135206451 | 135206451 | | | 135206451 | - | | |
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) | 23064 | SETX | Benign | 9411449 | RCV000081691|RCV000324127|RCV000381219|RCV000713195|RCV001511960; | N | MedGen: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:C18 | 9 | 135206460 | 135206460 | | | 9:g.135206460A>G | ClinGen:CA148704 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) | 23064 | SETX | Uncertain significance | 143270460 | RCV001048687|RCV001508272|RCV002409420|RCV003233938|RCV003233939; | N | MONDO: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:001122 | 9 | 135206471 | 135206471 | | | 9:g.135206471C>T | - | | |
NM_015046.7(SETX):c.1065C>T (p.Ile355=) | 23064 | SETX | Likely benign | 376107422 | RCV002100314; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206472 | 135206472 | | | 135206472 | - | | |
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) | 23064 | SETX | Pathogenic | 121434381 | RCV000002386; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206510 | 135206510 | | | 9:g.135206510C>A | ClinGen:CA252194,OMIM:608465.0013 | C1853761 606002 Spinocerebellar ataxia autosomal recessive 1; | |
NM_015046.7(SETX):c.1026G>A (p.Pro342=) | 23064 | SETX | Likely benign | -1 | RCV002637642; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206511 | 135206511 | | | | - | | |
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) | 23064 | SETX | Conflicting interpretations of pathogenicity | 768437607 | RCV001168149|RCV001168150|RCV001664720|RCV001238833|RCV002339420; | N | 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:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135206522 | 135206522 | | | 9:g.135206522T>G | - | | |
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala) | 23064 | SETX | Uncertain significance | 999767103 | RCV001208643; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206525 | 135206525 | | | 9:g.135206525T>C | - | | |
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser) | 23064 | SETX | Uncertain significance | -1 | RCV002606907; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206526 | 135206526 | | | NC_000009.11:g.135206526C>G | - | | |
NM_015046.7(SETX):c.1010+14A>C | 23064 | SETX | Likely benign | -1 | RCV002625044; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206650 | 135206650 | | | NC_000009.11:g.135206650T>G | - | | |
NM_015046.7(SETX):c.1010+4_1010+7dup | 23064 | SETX | Likely benign | 1222378139 | RCV002145957; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206656 | 135206657 | | | 135206656 | - | | |
NM_015046.7(SETX):c.1006G>A (p.Val336Ile) | 23064 | SETX | Uncertain significance | -1 | RCV003070465; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206668 | 135206668 | | | NC_000009.11:g.135206668C>T | - | | |
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) | 23064 | SETX | Uncertain significance | 538829833 | RCV001977566|RCV002074446|RCV003234148|RCV003234147; | N | 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:C1853761,OMIM:60600 | 9 | 135206676 | 135206676 | | | 135206676 | - | | |
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) | 23064 | SETX | Pathogenic/Likely pathogenic | 29001665 | RCV000002378|RCV000269785; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202 | 9 | 135206680 | 135206680 | | | 9:g.135206680G>A | OMIM:608465.0005,ClinGen:CA252181,UniProtKB:Q7Z333#VAR_018778 | CN517202 not provided; | |
NM_015046.7(SETX):c.991A>G (p.Ile331Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 572884359 | RCV001883640|RCV002464496|RCV002386648; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 135206683 | 135206683 | | | 135206683 | - | | |
NM_015046.7(SETX):c.988C>T (p.His330Tyr) | 23064 | SETX | Uncertain significance | 1847220041 | RCV001168151|RCV001168903; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206686 | 135206686 | | | 9:g.135206686G>A | - | | |
NM_015046.7(SETX):c.986G>A (p.Arg329Gln) | 23064 | SETX | Benign | 376077293 | RCV001243995; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206688 | 135206688 | | | 9:g.135206688C>T | - | | |
NM_015046.7(SETX):c.980A>T (p.Glu327Val) | 23064 | SETX | Uncertain significance | 1315992594 | RCV001955253; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206694 | 135206694 | | | 135206694 | - | | |
NM_015046.7(SETX):c.973A>G (p.Asn325Asp) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002474444|RCV002569401; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206701 | 135206701 | | | NC_000009.11:g.135206701T>C | - | | |
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 372193033 | RCV000644822|RCV001644729|RCV002369707|RCV003424222; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 9 | 135206706 | 135206706 | | | NC_000009.11:g.135206706C>T | ClinGen:CA5297886 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.964G>A (p.Ala322Thr) | 23064 | SETX | Uncertain significance | 540348550 | RCV001933649; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206710 | 135206710 | | | 135206710 | - | | |
NM_015046.7(SETX):c.963C>T (p.Asn321=) | 23064 | SETX | Likely benign | 750254836 | RCV002190061; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206711 | 135206711 | | | 135206711 | - | | |
NM_015046.7(SETX):c.951C>T (p.Thr317=) | 23064 | SETX | Likely benign | 1025452911 | RCV002198466; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206723 | 135206723 | | | 135206723 | - | | |
NM_015046.7(SETX):c.928G>A (p.Asp310Asn) | 23064 | SETX | Uncertain significance | -1 | RCV003112246; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206746 | 135206746 | | | NC_000009.11:g.135206746C>T | - | | |
NM_015046.7(SETX):c.912C>T (p.Val304=) | 23064 | SETX | Likely benign | 1473756878 | RCV001449541; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206762 | 135206762 | | | 135206762 | - | | |
NM_015046.7(SETX):c.900T>C (p.Leu300=) | 23064 | SETX | Likely benign | 147938250 | RCV000906848; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206774 | 135206774 | | | 9:g.135206774A>G | - | | |
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) | 23064 | SETX | Conflicting interpretations of pathogenicity | 777182592 | RCV000664255|RCV001263157|RCV002530626; | N | MONDO: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:64753 | 9 | 135206779 | 135206779 | | | NC_000009.11:g.135206779G>A | - | C0393541 Distal spinal muscular atrophy; | |
NM_015046.7(SETX):c.879T>C (p.Phe293=) | 23064 | SETX | Likely benign | -1 | RCV002635479; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206795 | 135206795 | | | | - | | |
NM_015046.7(SETX):c.867G>A (p.Ala289=) | 23064 | SETX | Likely benign | 769799706 | RCV002194765; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206807 | 135206807 | | | 135206807 | - | | |
NM_015046.7(SETX):c.866C>T (p.Ala289Val) | 23064 | SETX | Uncertain significance | 1237541645 | RCV001224042|RCV002447126|RCV002473228|RCV003234002|RCV003234001; | N | MONDO: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:00189 | 9 | 135206808 | 135206808 | | | 9:g.135206808G>A | - | | |
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) | 23064 | SETX | Uncertain significance | 775579797 | RCV002033127; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206809 | 135206809 | | | 135206809 | - | | |
NM_015046.7(SETX):c.855T>C (p.Pro285=) | 23064 | SETX | Likely benign | 141736312 | RCV001450719; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206819 | 135206819 | | | 135206819 | - | | |
NM_015046.7(SETX):c.839-6T>C | 23064 | SETX | Conflicting interpretations of pathogenicity | 760584527 | RCV000992961|RCV002549820; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135206841 | 135206841 | | | 9:g.135206841A>G | - | | |
NM_015046.7(SETX):c.839-14C>T | 23064 | SETX | Likely benign | -1 | RCV002609009; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135206849 | 135206849 | | | NC_000009.11:g.135206849G>A | - | | |
NC_000009.11:g.(?_135209975)_(135210134_?)dup | 23064 | SETX | Uncertain significance | -1 | RCV003119480; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135209975 | 135210134 | | | | - | | |
NM_015046.7(SETX):c.838+10T>G | 23064 | SETX | Likely benign | 2131491563 | RCV002106110; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135209985 | 135209985 | | | 135209985 | - | | |
NM_015046.7(SETX):c.823G>A (p.Glu275Lys) | 23064 | SETX | Uncertain significance | 901741485 | RCV001935560; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210010 | 135210010 | | | 135210010 | - | | |
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) | 23064 | SETX | Uncertain significance | 901741485 | RCV001888615|RCV003303272; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135210010 | 135210010 | | | 135210010 | - | | |
NM_015046.7(SETX):c.820A>G (p.Met274Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 753713810 | RCV001037092|RCV002473168|RCV003413819; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900| | 9 | 135210013 | 135210013 | | | 9:g.135210013T>C | - | | |
NM_015046.7(SETX):c.808A>G (p.Ile270Val) | 23064 | SETX | Uncertain significance | 1387745582 | RCV000699312; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210025 | 135210025 | | | 9:g.135210025T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.807G>A (p.Ser269=) | 23064 | SETX | Likely benign | 147677608 | RCV002096903|RCV003426292; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135210026 | 135210026 | | | 135210026 | - | | |
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) | 23064 | SETX | Uncertain significance | 757988188 | RCV000517524|RCV001039811|RCV001168904|RCV001168905|RCV002223857|RCV002420301; | N | MedGen: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:60600 | 9 | 135210027 | 135210027 | | | NC_000009.11:g.135210027G>A | ClinGen:CA5297936 | CN169374 not specified; | |
NM_015046.7(SETX):c.792T>C (p.Asn264=) | 23064 | SETX | Likely benign | -1 | RCV002932897; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135210041 | 135210041 | | | | - | | |
NM_015046.7(SETX):c.784A>G (p.Lys262Glu) | 23064 | SETX | Uncertain significance | 2131492208 | RCV001368834; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135210049 | 135210049 | | | 135210049 | - | | |
NM_015046.7(SETX):c.768G>T (p.Leu256=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 759468738 | RCV000536421|RCV001168906|RCV001168907|RCV002404485; | N | 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:602433, Orphanet:357043 | 9 | 135210065 | 135210065 | | | 9:g.135210065C>A | ClinGen:CA5297945 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.765C>A (p.Ser255=) | 23064 | SETX | Likely benign | 774297687 | RCV002143642; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210068 | 135210068 | | | 135210068 | - | | |
NM_015046.7(SETX):c.742C>T (p.Leu248Phe) | 23064 | SETX | Uncertain significance | 748358261 | RCV001864900; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210091 | 135210091 | | | 135210091 | - | | |
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) | 23064 | SETX | Uncertain significance | 1847481832 | RCV001168908|RCV001168909; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210096 | 135210096 | | | 9:g.135210096G>C | - | | |
NM_015046.7(SETX):c.727A>G (p.Met243Val) | 23064 | SETX | Uncertain significance | -1 | RCV002765365; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135210106 | 135210106 | | | NC_000009.11:g.135210106T>C | - | | |
NM_015046.7(SETX):c.719G>A (p.Gly240Asp) | 23064 | SETX | Pathogenic | 1589757407 | RCV001003375; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210114 | 135210114 | | | 9:g.135210114C>T | - | | |
NM_015046.7(SETX):c.719-4A>G | 23064 | SETX | Conflicting interpretations of pathogenicity | 775443601 | RCV001411304|RCV001847266|RCV002377642; | N | 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 | 9 | 135210118 | 135210118 | | | 135210118 | - | | |
NM_015046.7(SETX):c.719-17dup | 23064 | SETX | Likely benign | -1 | RCV002625740; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210130 | 135210131 | | | NC_000009.11:g.135210131dup | - | | |
NM_015046.7(SETX):c.719-17T>G | 23064 | SETX | Likely benign | 140720865 | RCV002155170; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135210131 | 135210131 | | | 135210131 | - | | |
NM_015046.7(SETX):c.718+18A>C | 23064 | SETX | Likely benign | 773630853 | RCV002194713; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211665 | 135211665 | | | 135211665 | - | | |
NM_015046.7(SETX):c.718+16A>C | 23064 | SETX | Likely benign | 769647958 | RCV002185410; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211667 | 135211667 | | | 135211667 | - | | |
NM_015046.7(SETX):c.718+14C>A | 23064 | SETX | Benign | 762900574 | RCV002146629; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211669 | 135211669 | | | 135211669 | - | | |
NM_015046.7(SETX):c.718+13C>T | 23064 | SETX | Likely benign | -1 | RCV002952605; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211670 | 135211670 | | | NC_000009.11:g.135211670G>A | - | | |
NM_015046.7(SETX):c.718+3G>C | 23064 | SETX | Uncertain significance | 2131504173 | RCV001944846|RCV003235608; | N | 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 | 9 | 135211680 | 135211680 | | | 135211680 | - | | |
NM_015046.7(SETX):c.717A>G (p.Leu239=) | 23064 | SETX | Benign/Likely benign | 147125311 | RCV000542634|RCV001079845|RCV003233731|RCV003233732; | N | 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:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135211684 | 135211684 | | | NC_000009.11:g.135211684T>C | ClinGen:CA5297976 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) | 23064 | SETX | Conflicting interpretations of pathogenicity | 138538492 | RCV000289058|RCV000346458|RCV001861345; | N | 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:606002, Orphanet:64753 | 9 | 135211691 | 135211691 | | | NC_000009.11:g.135211691T>C | ClinGen:CA5297977 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.668T>A (p.Leu223His) | 23064 | SETX | Uncertain significance | 1211053963 | RCV000992952|RCV003233905|RCV003411936|RCV003233904; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043||MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211733 | 135211733 | | | 9:g.135211733A>T | - | | |
NM_015046.7(SETX):c.667C>G (p.Leu223Val) | 23064 | SETX | Uncertain significance | 774068411 | RCV000644821; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211734 | 135211734 | | | 9:g.135211734G>C | ClinGen:CA5297985 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) | 23064 | SETX | Uncertain significance | 774068411 | RCV001848128|RCV002361084|RCV003234119|RCV003234120|RCV003416491; | N | 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:357043| | 9 | 135211734 | 135211734 | | | 135211734 | - | | |
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) | 23064 | SETX | Uncertain significance | 761180215 | RCV001333803|RCV001865790|RCV002377429|RCV003222308|RCV003234049; | N | 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:64753|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:00189 | 9 | 135211743 | 135211743 | | | 135211743 | - | | |
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) | 23064 | SETX | Conflicting interpretations of pathogenicity | 117861188 | RCV000516905|RCV000535102|RCV001166018|RCV001166019|RCV001311799|RCV001848903|RCV002367720; | N | MedGen: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:60600 | 9 | 135211747 | 135211747 | | | 9:g.135211747C>G | ClinGen:CA5297991 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.638C>T (p.Ser213Phe) | 23064 | SETX | Likely benign | 1254442456 | RCV001848607|RCV002543423; | N | Human 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:357043 | 9 | 135211763 | 135211763 | | | 135211763 | - | | |
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) | 23064 | SETX | Uncertain significance | 759880306 | RCV000292736|RCV000399899; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211784 | 135211784 | | | NC_000009.11:g.135211784T>C | ClinGen:CA5297999 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.617A>C (p.Glu206Ala) | 23064 | SETX | Uncertain significance | 759880306 | RCV001891010; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211784 | 135211784 | | | 135211784 | - | | |
NM_015046.7(SETX):c.598A>G (p.Ile200Val) | 23064 | SETX | Uncertain significance | 1368588434 | RCV001224150; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211803 | 135211803 | | | 9:g.135211803T>C | - | | |
NM_015046.7(SETX):c.592A>G (p.Lys198Glu) | 23064 | SETX | Uncertain significance | -1 | RCV002301236; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211809 | 135211809 | | | 135211809 | - | | |
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) | 23064 | SETX | Uncertain significance | 1847622037 | RCV001320998; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211811 | 135211811 | | | 135211811 | - | | |
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) | 23064 | SETX | Uncertain significance | 1847622210 | RCV002012235; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211812 | 135211812 | | | 135211812 | - | | |
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) | 23064 | SETX | Uncertain significance | 929798338 | RCV001985315|RCV002344097|RCV003234143|RCV003234144; | N | 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:0011223,MedGen:C186540 | 9 | 135211830 | 135211830 | | | 135211830 | - | | |
NM_015046.7(SETX):c.567A>G (p.Leu189=) | 23064 | SETX | Likely benign | -1 | RCV003023368; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211834 | 135211834 | | | | - | | |
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 199748733 | RCV000992943|RCV002346197|RCV002549817; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211855 | 135211855 | | | 9:g.135211855G>T | - | | |
NM_015046.7(SETX):c.540A>G (p.Lys180=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 757470639 | RCV001200194|RCV001166020|RCV001253917|RCV002558618; | N | 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:C1853761,OMIM:60600 | 9 | 135211861 | 135211861 | | | 9:g.135211861T>C | - | | |
NM_015046.7(SETX):c.528A>G (p.Arg176=) | 23064 | SETX | Likely benign | -1 | RCV002971524; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211873 | 135211873 | | | | - | | |
NM_015046.7(SETX):c.503G>A (p.Arg168Gln) | 23064 | SETX | Uncertain significance | 772017103 | RCV001943737|RCV003120753; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN169374 | 9 | 135211898 | 135211898 | | | 135211898 | - | | |
NM_015046.7(SETX):c.499-13_499-8dup | 23064 | SETX | Likely benign | -1 | RCV002667520; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135211909 | 135211910 | | | NC_000009.11:g.135211910_135211915dup | - | | |
NM_015046.7(SETX):c.499-8G>T | 23064 | SETX | Likely benign | -1 | RCV002618080; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211910 | 135211910 | | | NC_000009.11:g.135211910C>A | - | | |
NM_015046.7(SETX):c.499-10C>T | 23064 | SETX | Likely benign | 1444405452 | RCV001437020; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135211912 | 135211912 | | | 135211912 | - | | |
NM_015046.7(SETX):c.498+30T>C | 23064 | SETX | Benign | 11790312 | RCV000248193|RCV001651204|RCV003233522|RCV003233523; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218047 | 135218047 | | | NC_000009.11:g.135218047A>G | ClinGen:CA5298028 | CN169374 not specified; | |
NM_015046.7(SETX):c.498+20G>A | 23064 | SETX | Benign/Likely benign | 73659013 | RCV000243442|RCV001582868|RCV002058251|RCV003233521|RCV003233520; | N | MedGen: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:C18 | 9 | 135218057 | 135218057 | | | NC_000009.11:g.135218057C>T | ClinGen:CA5298030 | CN169374 not specified; | |
NM_015046.7(SETX):c.498+14T>C | 23064 | SETX | Benign | 753336459 | RCV002099681; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135218063 | 135218063 | | | 135218063 | - | | |
NM_015046.7(SETX):c.498+10A>G | 23064 | SETX | Likely benign | -1 | RCV002662732; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218067 | 135218067 | | | NC_000009.11:g.135218067T>C | - | | |
NM_015046.7(SETX):c.498+8dup | 23064 | SETX | Likely benign | -1 | RCV002926897; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218068 | 135218069 | | | NC_000009.11:g.135218069dup | - | | |
NM_015046.7(SETX):c.484C>T (p.His162Tyr) | 23064 | SETX | Uncertain significance | 1186709340 | RCV001972193; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218091 | 135218091 | | | 135218091 | - | | |
NM_015046.7(SETX):c.477T>A (p.Phe159Leu) | 23064 | SETX | Uncertain significance | 1473646250 | RCV001915019; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218098 | 135218098 | | | 135218098 | - | | |
NM_015046.7(SETX):c.472T>G (p.Leu158Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 145438764 | RCV000350037|RCV000399144|RCV000513524|RCV001080659|RCV001848728|RCV002338960|RCV003317200; | N | 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:C1865409,OMIM:602433 | 9 | 135218103 | 135218103 | | | 9:g.135218103A>C | ClinGen:CA5298036 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys) | 23064 | SETX | Uncertain significance | -1 | RCV002785463; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218105 | 135218105 | | | NC_000009.11:g.135218105T>C | - | | |
NM_015046.7(SETX):c.459T>C (p.His153=) | 23064 | SETX | Likely benign | 774939461 | RCV001394153; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135218116 | 135218116 | | | 135218116 | - | | |
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) | 23064 | SETX | Conflicting interpretations of pathogenicity | 767453182 | RCV000644846|RCV001288404|RCV001167588|RCV001167587; | N | MONDO: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:60600 | 9 | 135218144 | 135218144 | | | 9:g.135218144T>C | ClinGen:CA5298042 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.407C>T (p.Ala136Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002323102|RCV003094510; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218168 | 135218168 | | | 135218168 | - | | |
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) | 23064 | SETX | Uncertain significance | 766625711 | RCV001167589|RCV001167590; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135218178 | 135218178 | | | 9:g.135218178A>C | - | | |
NM_015046.7(SETX):c.396A>G (p.Leu132=) | 23064 | SETX | Likely benign | 375232867 | RCV002097657; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218179 | 135218179 | | | 135218179 | - | | |
NM_015046.7(SETX):c.390C>T (p.Asn130=) | 23064 | SETX | Likely benign | 138363625 | RCV001001561|RCV003117681; | N | MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218185 | 135218185 | | | 9:g.135218185G>A | - | | |
NM_015046.7(SETX):c.389-8_389-6del | 23064 | SETX | Likely benign | -1 | RCV002781190; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218192 | 135218194 | | | NC_000009.11:g.135218194_135218196del | - | | |
NM_015046.7(SETX):c.389-7T>C | 23064 | SETX | Likely benign | -1 | RCV002651847; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218193 | 135218193 | | | NC_000009.11:g.135218193A>G | - | | |
NM_015046.7(SETX):c.389-9del | 23064 | SETX | Conflicting interpretations of pathogenicity | 534931548 | RCV000297311|RCV001844142|RCV002523744; | N | MedGen: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:357043 | 9 | 135218195 | 135218195 | | | 9:g.135218195_135218195del | ClinGen:CA5298052 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.389-16A>G | 23064 | SETX | Likely benign | 200380642 | RCV002161702; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135218202 | 135218202 | | | 135218202 | - | | |
NM_015046.7(SETX):c.389-20A>C | 23064 | SETX | Likely benign | 1848060275 | RCV002200696; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135218206 | 135218206 | | | 135218206 | - | | |
NM_015046.7(SETX):c.388+19C>T | 23064 | SETX | Likely benign | -1 | RCV003076093; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135221629 | 135221629 | | | NC_000009.11:g.135221629G>A | - | | |
NM_015046.7(SETX):c.388+19C>G | 23064 | SETX | Likely benign | -1 | RCV002904260; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135221629 | 135221629 | | | NC_000009.11:g.135221629G>C | - | | |
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) | 23064 | SETX | Uncertain significance | 552476047 | RCV001311800|RCV001871780|RCV003234038|RCV003246866|RCV003234039; | N | 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:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:001122 | 9 | 135221654 | 135221654 | | | 135221654 | - | | |
NM_015046.7(SETX):c.377A>G (p.His126Arg) | 23064 | SETX | Conflicting interpretations of pathogenicity | 368932301 | RCV001093201|RCV001242996|RCV003413906; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753| | 9 | 135221659 | 135221659 | | | 9:g.135221659T>C | - | | |
NM_015046.7(SETX):c.372T>G (p.Leu124=) | 23064 | SETX | Likely benign | 1263479038 | RCV001459161; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135221664 | 135221664 | | | 135221664 | - | | |
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del) | 23064 | SETX | Likely pathogenic | 587776537 | RCV000002387|RCV000624514; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135221691 | 135221693 | | | 9:g.135221691_135221693del | ClinGen:CA252197,OMIM:608465.0014 | C0950123 Inborn genetic diseases; | |
NM_015046.7(SETX):c.343C>G (p.Leu115Val) | 23064 | SETX | Uncertain significance | 538372427 | RCV001267159|RCV001880135|RCV003234018|RCV003234019; | N | MeSH: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:C186540 | 9 | 135221693 | 135221693 | | | 9:g.135221693G>C | - | | |
NM_015046.7(SETX):c.331C>T (p.Arg111Ter) | 23064 | SETX | Pathogenic | -1 | RCV002949307; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135221705 | 135221705 | | | NC_000009.11:g.135221705G>A | - | | |
NM_015046.7(SETX):c.304A>G (p.Thr102Ala) | 23064 | SETX | Conflicting interpretations of pathogenicity | 770962447 | RCV001848119|RCV002034740|RCV002449445; | N | 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:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135221732 | 135221732 | | | 135221732 | - | | |
NM_015046.7(SETX):c.301A>G (p.Ile101Val) | 23064 | SETX | Uncertain significance | 376848704 | RCV001315431; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135221735 | 135221735 | | | 135221735 | - | | |
NM_015046.7(SETX):c.273C>T (p.Asp91=) | 23064 | SETX | Likely benign | -1 | RCV002751061; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135221763 | 135221763 | | | | - | | |
NM_015046.7(SETX):c.267A>G (p.Ile89Met) | 23064 | SETX | Uncertain significance | 767232097 | RCV001219943|RCV003233997|RCV003233998|RCV002562491; | N | 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:602433, Orphanet:357043 | 9 | 135221769 | 135221769 | | | 9:g.135221769T>C | - | | |
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys) | 23064 | SETX | Likely benign | 149276791 | RCV000698387; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135221773 | 135221773 | | | 9:g.135221773T>C | - | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.245G>A (p.Gly82Glu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 201864041 | RCV001367166|RCV002456568|RCV003399175; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123| | 9 | 135221791 | 135221791 | | | 135221791 | - | | |
NM_015046.7(SETX):c.234G>A (p.Lys78=) | 23064 | SETX | Likely benign | 146206138 | RCV000876415|RCV002512130|RCV003233880|RCV003233879; | N | 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:C1853761,OMIM:60600 | 9 | 135221802 | 135221802 | | | 9:g.135221802C>T | - | | |
NM_015046.7(SETX):c.208A>G (p.Ile70Val) | 23064 | SETX | Conflicting interpretations of pathogenicity | 747469176 | RCV000644809|RCV002422333|RCV003403488; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123| | 9 | 135221828 | 135221828 | | | NC_000009.11:g.135221828T>C | ClinGen:CA5298101 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.207C>G (p.Leu69=) | 23064 | SETX | Likely benign | -1 | RCV002645907; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135221829 | 135221829 | | | | - | | |
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) | 23064 | SETX | Likely pathogenic | 771481623 | RCV001799572; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135221834 | 135221834 | | | 135221834 | - | | |
NM_015046.7(SETX):c.199T>C (p.Leu67=) | 23064 | SETX | Likely benign | 2131558600 | RCV001497099; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135221837 | 135221837 | | | 135221837 | - | | |
NM_015046.7(SETX):c.193G>A (p.Glu65Lys) | 23064 | SETX | Uncertain significance | 1554825315 | RCV000790206|RCV002298772; | N | MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135221843 | 135221843 | | | 9:g.135221843C>T | - | | |
NM_015046.7(SETX):c.192A>G (p.Leu64=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 117326462 | RCV000556642|RCV001167591|RCV001167592|RCV001287950|RCV001558290|RCV001848949|RCV002413561; | N | 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:606002, Orphanet:64753 | 9 | 135221844 | 135221844 | | | 9:g.135221844T>C | ClinGen:CA5298104 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.177+18G>A | 23064 | SETX | Likely benign | 201574662 | RCV002102771; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224621 | 135224621 | | | 135224621 | - | | |
NM_015046.7(SETX):c.177+6A>G | 23064 | SETX | Uncertain significance | 2131575018 | RCV001879036; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224633 | 135224633 | | | 135224633 | - | | |
NM_015046.7(SETX):c.174T>C (p.His58=) | 23064 | SETX | Likely benign | 1470975448 | RCV002078973; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224642 | 135224642 | | | 135224642 | - | | |
NM_015046.7(SETX):c.172C>T (p.His58Tyr) | 23064 | SETX | Conflicting interpretations of pathogenicity | 757760067 | RCV000516965|RCV001049138|RCV002404330; | N | MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MeSH:D030342,MedGen:C0950123 | 9 | 135224644 | 135224644 | | | 9:g.135224644G>A | ClinGen:CA200838114 | CN169374 not specified; | |
NM_015046.7(SETX):c.167T>C (p.Phe56Ser) | 23064 | SETX | Uncertain significance | 1032816797 | RCV001056142; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224649 | 135224649 | | | 9:g.135224649A>G | - | | |
NM_015046.7(SETX):c.162G>A (p.Leu54=) | 23064 | SETX | Likely benign | 1175429740 | RCV001461924; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135224654 | 135224654 | | | 135224654 | - | | |
NM_015046.7(SETX):c.159A>G (p.Glu53=) | 23064 | SETX | Likely benign | 2131575185 | RCV001435079; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224657 | 135224657 | | | 135224657 | - | | |
NM_015046.7(SETX):c.156T>C (p.Asp52=) | 23064 | SETX | Uncertain significance | 1848476611 | RCV001167593|RCV001168219; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224660 | 135224660 | | | 9:g.135224660A>G | - | | |
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) | 23064 | SETX | Uncertain significance | 777256092 | RCV001770649|RCV002543999|RCV003234105|RCV003234106; | N | 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:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433 | 9 | 135224664 | 135224664 | | | 135224664 | - | | |
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) | 23064 | SETX | Uncertain significance | 142551293 | RCV001287948|RCV003166620|RCV003234025|RCV003234026; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135224670 | 135224670 | | | 135224670 | - | | |
NM_015046.7(SETX):c.99C>T (p.Ala33=) | 23064 | SETX | Likely benign | 762914576 | RCV000533713|RCV002384169|RCV003233741|RCV003233742; | N | 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:0011223,MedGen:C186540 | 9 | 135224717 | 135224717 | | | NC_000009.11:g.135224717G>A | ClinGen:CA5298132 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.93A>G (p.Gln31=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 201795631 | RCV000557520|RCV002377107|RCV003403308; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123| | 9 | 135224723 | 135224723 | | | NC_000009.11:g.135224723T>C | ClinGen:CA5298133 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.81C>T (p.Ser27=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 149229231 | RCV000873708|RCV001288751|RCV001847094|RCV003117630; | N | 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|MedGen:C3661900 | 9 | 135224735 | 135224735 | | | 9:g.135224735G>A | - | | |
NM_015046.7(SETX):c.80C>T (p.Ser27Phe) | 23064 | SETX | Likely benign | -1 | RCV002998767; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224736 | 135224736 | | | NC_000009.11:g.135224736G>A | - | | |
NM_015046.7(SETX):c.78G>A (p.Pro26=) | 23064 | SETX | Likely benign | 139972421 | RCV002167490|RCV003434386; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:C3661900 | 9 | 135224738 | 135224738 | | | 135224738 | - | | |
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) | 23064 | SETX | Uncertain significance | 377617692 | RCV000312389|RCV000408198; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224739 | 135224739 | | | 9:g.135224739G>C | ClinGen:CA10629250 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.77C>T (p.Pro26Leu) | 23064 | SETX | Conflicting interpretations of pathogenicity | 377617692 | RCV001848131|RCV003120722; | N | 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:64753 | 9 | 135224739 | 135224739 | | | 135224739 | - | | |
NM_015046.7(SETX):c.75T>G (p.Thr25=) | 23064 | SETX | Likely benign | 1589791526 | RCV001403383; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224741 | 135224741 | | | 9:g.135224741A>C | - | | |
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) | 23064 | SETX | Uncertain significance | 981346599 | RCV000531183|RCV003233736|RCV003233735; | N | 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:606002, Orphanet:64753 | 9 | 135224745 | 135224745 | | | NC_000009.11:g.135224745T>C | ClinGen:CA200838232 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) | 23064 | SETX | Uncertain significance | 1323126988 | RCV000547708; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224748 | 135224748 | | | NC_000009.11:g.135224748G>A | ClinGen:CA375352025 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) | 23064 | SETX | Uncertain significance | 756600708 | RCV000644832; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224752 | 135224752 | | | NC_000009.11:g.135224752C>A | ClinGen:CA375352034 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.64G>A (p.Ala22Thr) | 23064 | SETX | Uncertain significance | 756600708 | RCV001350040; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224752 | 135224752 | | | 135224752 | - | | |
NM_015046.7(SETX):c.60C>T (p.Arg20=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 553346505 | RCV000272372|RCV000367105|RCV001848729|RCV002356501; | N | 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:C0950123 | 9 | 135224756 | 135224756 | | | 9:g.135224756G>A | ClinGen:CA5298141 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.59G>A (p.Arg20His) | 23064 | SETX | Benign/Likely benign | 79740039 | RCV000363505|RCV000327408|RCV000507126|RCV000551163|RCV001540050|RCV001848019; | N | 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:C1865409,OMIM:602433 | 9 | 135224757 | 135224757 | | | NC_000009.11:g.135224757C>T | ClinVar:157525,ClinGen:CA048242 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.58C>T (p.Arg20Cys) | 23064 | SETX | Uncertain significance | -1 | RCV002355689|RCV002473370|RCV003234186|RCV003234187; | N | MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135224758 | 135224758 | | | 135224758 | - | | |
NM_015046.7(SETX):c.43A>G (p.Ile15Val) | 23064 | SETX | Uncertain significance | 151040199 | RCV001848122|RCV002034741|RCV003234117|RCV003234118; | N | 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:64753|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753| | 9 | 135224773 | 135224773 | | | 135224773 | - | | |
NM_015046.7(SETX):c.43A>T (p.Ile15Phe) | 23064 | SETX | Conflicting interpretations of pathogenicity | -1 | RCV002333717|RCV003102579; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135224773 | 135224773 | | | 135224773 | - | | |
NM_015046.7(SETX):c.36T>C (p.Ala12=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1198947358 | RCV001168220|RCV001168967|RCV002559610; | N | 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:606002, Orphanet:64753 | 9 | 135224780 | 135224780 | | | 9:g.135224780A>G | - | | |
NM_015046.7(SETX):c.33T>C (p.Gly11=) | 23064 | SETX | Likely benign | 1243832257 | RCV000546405; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224783 | 135224783 | | | NC_000009.11:g.135224783A>G | ClinGen:CA467523304 | C1865409 602433 Amyotrophic lateral sclerosis type 4; | |
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) | 23064 | SETX | Uncertain significance | 886063560 | RCV000268908|RCV000323745|RCV001591036; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MedGen:CN517202 | 9 | 135224784 | 135224784 | | | 9:g.135224784C>T | ClinGen:CA10626642 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.27A>G (p.Pro9=) | 23064 | SETX | Likely benign | 761487448 | RCV001400747; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224789 | 135224789 | | | 135224789 | - | | |
NM_015046.7(SETX):c.25C>T (p.Pro9Ser) | 23064 | SETX | Uncertain significance | -1 | RCV003085811; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135224791 | 135224791 | | | NC_000009.11:g.135224791G>A | - | | |
NM_015046.7(SETX):c.24G>A (p.Thr8=) | 23064 | SETX | Likely benign | -1 | RCV002780289; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135224792 | 135224792 | | | | - | | |
NM_015046.7(SETX):c.23C>T (p.Thr8Met) | 23064 | SETX | Conflicting interpretations of pathogenicity | 1057520367 | RCV000440159|RCV001861495; | N | MedGen:CN517202|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753; MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135224793 | 135224793 | | | 9:g.135224793G>A | ClinGen:CA16605391 | CN517202 not provided; | |
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) | 23064 | SETX | Uncertain significance | 774123592 | RCV000517034|RCV001255858|RCV001851460|RCV003233667|RCV003233668; | N | MedGen: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, | 9 | 135224799 | 135224801 | | | NC_000009.11:g.135224801ACA[1] | ClinGen:CA5298154 | | |
NM_015046.7(SETX):c.14G>C (p.Cys5Ser) | 23064 | SETX | Uncertain significance | 1589791895 | RCV000813622; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135224802 | 135224802 | | | 9:g.135224802C>G | - | | |
NM_015046.7(SETX):c.9A>G (p.Thr3=) | 23064 | SETX | Conflicting interpretations of pathogenicity | 139681694 | RCV000284093|RCV000378423|RCV002379258; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MeSH:D030342,MedGen:C0950123 | 9 | 135224807 | 135224807 | | | 9:g.135224807T>C | ClinGen:CA5298155 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) | 23064 | SETX | Conflicting interpretations of pathogenicity | 149808180 | RCV000585415|RCV002341496|RCV001860113|RCV003420022; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753| | 9 | 135224812 | 135224812 | | | 9:g.135224812T>C | ClinGen:CA5298157 | CN517202 not provided; | |
NM_015046.7(SETX):c.-70T>C | 23064 | SETX | Conflicting interpretations of pathogenicity | 72765839 | RCV001168968|RCV001168969; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135229098 | 135229098 | | | 9:g.135229098A>G | - | | |
NM_015046.7(SETX):c.-107C>T | 23064 | SETX | Uncertain significance | 190832998 | RCV000320413|RCV000374707; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135229135 | 135229135 | | | 9:g.135229135G>A | ClinGen:CA10626645 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.7(SETX):c.-123C>A | 23064 | SETX | Conflicting interpretations of pathogenicity | 184570956 | RCV001166068|RCV001254001; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135230312 | 135230312 | | | 9:g.135230312G>T | - | | |
NM_015046.7(SETX):c.-124C>T | 23064 | SETX | Benign/Likely benign | 114850064 | RCV001840788|RCV001166069|RCV001166070; | N | MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135230313 | 135230313 | | | 9:g.135230313G>A | - | | |
NM_015046.7(SETX):c.-154G>C | 23064 | SETX | Uncertain significance | 886063561 | RCV000280230|RCV000335171; | N | MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043 | 9 | 135230343 | 135230343 | | | NC_000009.11:g.135230343C>G | ClinGen:CA10632621 | CN239175 Amyotrophic Lateral Sclerosis, Dominant; | |
NM_015046.5(SETX):c.-190G>A | 23064 | SETX | Uncertain significance | 1055615359 | RCV001166547|RCV001254002; | N | MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753 | 9 | 135230379 | 135230379 | | | 9:g.135230379C>T | - | | |