SMN1 survival of motor neuron 1, telomeric

Annotation transcript: NM_000344.4

272 unique variant annotations were identified in 342 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
5-70220935-C-G c.5C>G p.A2G Missense 1/9 - 6
5-70220935-C-T c.5C>T p.A2V Missense 1/9 - 2
5-70220936-G-A c.6G>A p.A2= Synonymous 1/9 - 6
5-70220936-G-C c.6G>C p.A2= Synonymous 1/9 - 6
5-70220936-G-T c.6G>T p.A2= Synonymous 1/9 - 6
5-70220948-CG-C c.20del p.G7Afs*33 Frameshift 1/9 - 1
5-70220951-C-CA c.22dup p.S8Kfs*23 Frameshift 1/9 - 3
5-70220965-T-C c.35T>C p.V12A Missense 1/9 - 1
5-70220967-CC-AA c.37_38delinsAA p.P13K Missense 1/9 - 11
5-70220967-CC-GA c.37_38delinsGA p.P13E Missense 1/9 - 1
5-70220967-C-G c.37C>G p.P13A Missense 1/9 - 1
5-70220968-C-G c.38C>G p.P13R Missense 1/9 - 2
5-70220969-G-A c.39G>A p.P13= Synonymous 1/9 - 1
5-70220969-G-C c.39G>C p.P13= Synonymous 1/9 - 1
5-70220969-G-T c.39G>T p.P13= Synonymous 1/9 - 1
5-70220970-G-A c.40G>A p.E14K Missense 1/9 - 1
5-70220970-GA-AC c.40_41delinsAC p.E14T Missense 1/9 - 1
5-70220974-AG-A c.46del p.E16Rfs*24 Frameshift 1/9 - 1
5-70220979-GA-CC c.49_50delinsCC p.D17P Missense 1/9 - 1
5-70220982-T-C c.52T>C p.S18P Missense 1/9 - 1
5-70220982-TC-CT c.52_53delinsCT p.S18L Missense 1/9 - 1
5-70220982-TC-GA c.52_53inv p.S18D Missense 1/9 - 1
5-70220982-TC-GT c.52_53delinsGT p.S18V Missense 1/9 - 1
5-70220982-T-G c.52T>G p.S18A Missense 1/9 - 4
5-70220983-C-G c.53C>G p.S18C Missense 1/9 - 2
5-70220986-GT-G c.56del p.V19Gfs*21 Frameshift 1/9 - 3
5-70220997-C-T c.67C>T p.R23C Missense 1/9 - 1
5-70220999-C-A c.69C>A p.R23= Synonymous 1/9 - 1
5-70220999-C-G c.69C>G p.R23= Synonymous 1/9 - 1
5-70220999-C-T c.69C>T p.R23= Synonymous 1/9 - 1
5-70221003-A-G c.73A>G p.T25A Missense 1/9 - 1
5-70221007-G-C c.77G>C p.G26A Missense 1/9 - 1
5-70221010-A-AG c.81+1dup - SpliceDonorInsertion - 1/8 1
5-70234666-AGC-GAG c.82_84delinsGAG p.S28E Missense 2/9 - 1
5-70234666-AG-GC c.82_83delinsGC p.S28A Missense 2/9 - 2
5-70234666-A-T c.82A>T p.S28C Missense 2/9 - 1
5-70234668-C-T c.84C>T p.S28= Synonymous 2/9 - 3
5-70234670-A-C c.86A>C p.D29A Missense 2/9 - 1
5-70234671-T-A c.87T>A p.D29E Missense 2/9 - 1
5-70234671-T-C c.87T>C p.D29= Synonymous 2/9 - 1
5-70234671-T-G c.87T>G p.D29E Missense 2/9 - 1
5-70234672-G-A c.88G>A p.D30N Missense 2/9 - 4
5-70234672-GA-TG c.88_89delinsTG p.D30C Missense 2/9 - 1
5-70234672-GA-TT c.88_89delinsTT p.D30F Missense 2/9 - 1
5-70234673-A-G c.89A>G p.D30G Missense 2/9 - 1
5-70234673-A-AT c.91dup p.S31Ffs*2 Frameshift 2/9 - 1
5-70234678-GA-TG c.94_95delinsTG p.D32C Missense 2/9 - 1
5-70234681-ATT-TAA c.97_99delinsTAA p.I33* Nonsense 2/9 - 1
5-70234681-AT-A c.100del p.W34Gfs*6 Frameshift 2/9 - 1
5-70234684-TG-GC c.100_101delinsGC p.W34A Missense 2/9 - 1
5-70234688-A-C c.104A>C p.D35A Missense 2/9 - 1
5-70234690-GAT-ATG c.106_108delinsATG p.D36M Missense 2/9 - 1
5-70234691-A-C c.107A>C p.D36A Missense 2/9 - 2
5-70234692-T-A c.108T>A p.D36E Missense 2/9 - 1
5-70234692-T-G c.108T>G p.D36E Missense 2/9 - 1
5-70234692-T-TA c.109dup p.T37Nfs*8 Frameshift 2/9 - 1
5-70234694-C-T c.110C>T p.T37I Missense 2/9 - 1
5-70234697-C-A c.113C>A p.A38E Missense 2/9 - 1
5-70234697-C-G c.113C>G p.A38G Missense 2/9 - 2
5-70234699-CT-GC c.115_116delinsGC p.L39A Missense 2/9 - 1
5-70234702-ATA-TTT c.118_120delinsTTT p.I40F Missense 2/9 - 1
5-70234705-AA-GC c.121_122delinsGC p.K41A Missense 2/9 - 3
5-70234706-A-G c.122A>G p.K41R Missense 2/9 - 1
5-70234708-G-GT c.124_125insT p.A42Vfs*3 Frameshift 2/9 - 1
5-70234709-C-A c.125C>A p.A42E Missense 2/9 - 1
5-70234709-C-T c.125C>T p.A42V Missense 2/9 - 1
5-70234710-A-C c.126A>C p.A42= Synonymous 2/9 - 1
5-70234710-A-G c.126A>G p.A42= Synonymous 2/9 - 1
5-70234710-A-T c.126A>T p.A42= Synonymous 2/9 - 1
5-70234711-TA-GC c.127_128delinsGC p.Y43A Missense 2/9 - 2
5-70234715-A-C c.131A>C p.D44A Missense 2/9 - 2
5-70234715-A-T c.131A>T p.D44V Missense 2/9 - 12
5-70234720-GC-AA c.136_137delinsAA p.A46N Missense 2/9 - 1
5-70234720-GC-TG c.136_137delinsTG p.A46C Missense 2/9 - 1
5-70234721-C-T c.137C>T p.A46V Missense 2/9 - 1
5-70234733-T-C c.149T>C p.F50S Missense 2/9 - 1
5-70237219-G-A c.157G>A p.A53T Missense 3/9 - 13
5-70237219-GC-TG c.157_158delinsTG p.A53C Missense 3/9 - 1
5-70237219-GC-TT c.157_158delinsTT p.A53F Missense 3/9 - 1
5-70237242-T-A c.180T>A p.C60* Nonsense 3/9 - 2
5-70237255-AA-GC c.193_194delinsGC p.K65A Missense 3/9 - 1
5-70237260-CAAAAACCACACCTAAAA-C c.198_214del p.T69Cfs*2 Frameshift 3/9 - 1
5-70237270-C-G c.208C>G p.P70A Missense 3/9 - 1
5-70237272-T-A c.210T>A p.P70= Synonymous 3/9 - 1
5-70237272-T-C c.210T>C p.P70= Synonymous 3/9 - 1
5-70237272-T-G c.210T>G p.P70= Synonymous 3/9 - 1
5-70237273-AA-GC c.211_212delinsGC p.K71A Missense 3/9 - 1
5-70237277-G-C c.215G>C p.R72T Missense 3/9 - 1
5-70237282-C-G c.220C>G p.P74A Missense 3/9 - 1
5-70237283-C-T c.221C>T p.P74L Missense 3/9 - 1
5-70237285-G-A c.223G>A p.A75T Missense 3/9 - 1
5-70237288-AA-GC c.226_227delinsGC p.K76A Missense 3/9 - 1
5-70237298-A-G c.236A>G p.K79R Missense 3/9 - 1
5-70237306-AA-GC c.244_245delinsGC p.K82A Missense 3/9 - 1
5-70237306-AAG-GAC c.244_246delinsGAC p.K82D Missense 3/9 - 1
5-70237315-A-T c.253A>T p.T85S Missense 3/9 - 2
5-70237316-C-G c.254C>G p.T85S Missense 3/9 - 2
5-70237318-GCA-TGT c.256_258delinsTGT p.A86C Missense 3/9 - 1
5-70237318-GCA-TTT c.256_258delinsTTT p.A86F Missense 3/9 - 1
5-70237318-G-T c.256G>T p.A86S Missense 3/9 - 1
5-70237319-C-A c.257C>A p.A86E Missense 3/9 - 1
5-70237319-CA-AC c.257_258delinsAC p.A86D Missense 3/9 - 1
5-70237320-A-C c.258A>C p.A86= Synonymous 3/9 - 1
5-70237320-A-G c.258A>G p.A86= Synonymous 3/9 - 1
5-70237320-A-T c.258A>T p.A86= Synonymous 3/9 - 1
5-70237321-GCT-CAA c.259_261delinsCAA p.A87Q Missense 3/9 - 1
5-70237321-GC-TG c.259_260delinsTG p.A87C Missense 3/9 - 1
5-70237322-CT-AG c.260_261inv p.A87E Missense 3/9 - 1
5-70237325-CC-AA c.263_264delinsAA p.S88* Nonsense 3/9 - 3
5-70237333-C-T c.271C>T p.Q91* Nonsense 3/9 - 1
5-70238186-G-C c.275G>C p.W92S Missense 4/9 - 9
5-70238192-T-C c.281T>C p.V94A Missense 4/9 - 1
5-70238192-T-G c.281T>G p.V94G Missense 4/9 - 3
5-70238194-G-A c.283G>A p.G95R Missense 4/9 - 6
5-70238194-G-C c.283G>C p.G95R Missense 4/9 - 7
5-70238193-TG-T c.286del p.D96Tfs*53 Frameshift 4/9 - 1
5-70238197-G-A c.286G>A p.D96N Missense 4/9 - 2
5-70238198-A-C c.287A>C p.D96A Missense 4/9 - 1
5-70238202-ATGTTCTGCCATT-A c.294_305del p.C98_I101del InFrameDeletion 4/9 - 1
5-70238209-GCC-AAG c.298_300delinsAAG p.A100K Missense 4/9 - 1
5-70238210-C-G c.299C>G p.A100G Missense 4/9 - 1
5-70238216-G-A c.305G>A p.W102* Nonsense 4/9 - 3
5-70238217-G-A c.306G>A p.W102* Nonsense 4/9 - 3
5-70238221-G-GA c.312dup p.D105Rfs*13 Frameshift 4/9 - 1
5-70238227-G-C c.316G>C p.G106R Missense 4/9 - 1
5-70238237-A-T c.326A>T p.Y109F Missense 4/9 - 1
5-70238239-CC-TA c.328_329delinsTA p.P110* Nonsense 4/9 - 1
5-70238239-C-G c.328C>G p.P110A Missense 4/9 - 2
5-70238243-C-G c.332C>G p.A111G Missense 4/9 - 17
5-70238252-C-T c.341C>T p.A114V Missense 4/9 - 1
5-70238257-A-T c.346A>T p.I116F Missense 4/9 - 9
5-70238261-A-C c.350A>C p.D117A Missense 4/9 - 1
5-70238267-A-G c.356A>G p.K119R Missense 4/9 - 1
5-70238269-A-G c.358A>G p.R120G Missense 4/9 - 3
5-70238269-AG-GC c.358_359delinsGC p.R120A Missense 4/9 - 1
5-70238291-A-T c.380A>T p.Y127F Missense 4/9 - 1
5-70238299-T-C c.388T>C p.Y130H Missense 4/9 - 1
5-70238300-A-G c.389A>G p.Y130C Missense 4/9 - 4
5-70238300-A-T c.389A>T p.Y130F Missense 4/9 - 1
5-70238308-AGA-TGT c.397_399delinsTGT p.R133C Missense 4/9 - 2
5-70238308-AG-CA c.397_398delinsCA p.R133Q Missense 4/9 - 1
5-70238307-TAGAG-T c.399_402del p.E134Sfs*14 Frameshift 4/9 - 5
5-70238311-G-A c.400G>A p.E134K Missense 4/9 - 19
5-70238307-TAG-T c.401_402del p.E134Gfs*13 Frameshift 4/9 - 1
5-70238317-C-G c.406C>G p.Q136E Missense 4/9 - 7
5-70238317-C-CA c.410dup p.N137Kfs*11 Frameshift 4/9 - 2
5-70238322-AT-A c.411del p.L138Cfs*11 Frameshift 4/9 - 1
5-70238327-C-A c.416C>A p.S139Y Missense 4/9 - 1
5-70238329-G-A c.418G>A p.D140N Missense 4/9 - 2
5-70238329-GA-AC c.418_419delinsAC p.D140T Missense 4/9 - 1
5-70238329-GA-TG c.418_419delinsTG p.D140C Missense 4/9 - 1
5-70238330-A-T c.419A>T p.D140V Missense 4/9 - 1
5-70238330-ATCTACTT-A c.422_428del p.L141Pfs*6 Frameshift 4/9 - 1
5-70238335-C-T c.424C>T p.L142F Missense 4/9 - 1
5-70238338-T-C c.427T>C p.S143P Missense 4/9 - 1
5-70238337-TTCCCCAA-T c.429_435del p.P144Vfs*3 Frameshift 4/9 - 1
5-70238338-TC-T c.431del p.P144Qfs*5 Frameshift 4/9 - 1
5-70238347-T-C c.436T>C p.C146R Missense 4/9 - 1
5-70238347-TGTGAA-T c.439_443del p.E147Sfs*2 Frameshift 4/9 - 1
5-70238350-GA-AG c.439_440delinsAG p.E147R Missense 4/9 - 1
5-70238354-T-G c.443T>G p.V148G Missense 4/9 - 1
5-70238357-C-A c.446C>A p.A149D Missense 4/9 - 1
5-70238363-A-G c.452A>G p.N151S Missense 4/9 - 1
5-70238369-A-C c.458A>C p.E153A Missense 4/9 - 1
5-70238369-A-G c.458A>G p.E153G Missense 4/9 - 1
5-70238373-A-G c.462A>G p.Q154= Synonymous 4/9 - 2
5-70238380-C-T c.469C>T p.Q157* Nonsense 4/9 - 1
5-70238383-AG-A c.472del p.E158Rfs*55 Frameshift 4/9 - 1
5-70238383-G-T c.472G>T p.E158* Nonsense 4/9 - 1
5-70238563-GT-TG c.493_494delinsTG p.V165C Missense 5/9 - 1
5-70238578-AGT-A c.510_511del p.S170Rfs*9 Frameshift 5/9 - 1
5-70238593-T-G c.523T>G p.S175A Missense 5/9 - 1
5-70238594-TC-T c.524del p.S175Ffs*38 Frameshift 5/9 - 1
5-70238606-AA-TG c.536_537delinsTG p.K179M Missense 5/9 - 1
5-70238612-A-G c.542A>G p.D181G Missense 5/9 - 2
5-70238619-TC-T c.549del p.K184Sfs*29 Frameshift 5/9 - 2
5-70238619-C-CA c.551dup p.P185Afs*71 Frameshift 5/9 - 1
5-70238623-C-T c.553C>T p.P185S Missense 5/9 - 1
5-70238632-G-T c.562G>T p.A188S Missense 5/9 - 2
5-70238648-T-C c.578T>C p.F193S Missense 5/9 - 1
5-70238651-T-C c.581T>C p.L194P Missense 5/9 - 1
5-70238654-C-CT c.585dup p.P196Sfs*60 Frameshift 5/9 - 1
5-70238661-CA-C c.591del p.M200Cfs*13 Frameshift 5/9 - 1
5-70238668-A-C c.598A>C p.M200L Missense 5/9 - 1
5-70238668-A-T c.598A>T p.M200L Missense 5/9 - 1
5-70238674-GGG-AGC c.604_606delinsAGC p.G202S Missense 5/9 - 2
5-70238686-GGA-AGC c.616_618delinsAGC p.G206S Missense 5/9 - 3
5-70240489-G-C c.632G>C p.G211A Missense 6/9 - 1
5-70240494-AAAATTCAATGGCCCACCACCGC-A c.637_658del p.K213Hfs*23 Frameshift 6/9 - 1
5-70240494-AAA-CAT c.637_639delinsCAT p.K213H Missense 6/9 - 1
5-70240495-A-G c.638A>G p.K213R Missense 6/9 - 1
5-70240500-A-T c.643A>T p.N215Y Missense 6/9 - 1
5-70240503-G-C c.646G>C p.G216R Missense 6/9 - 1
5-70240504-G-GC c.650dup p.P218Tfs*38 Frameshift 6/9 - 1
5-70240519-C-T c.662C>T p.P221L Missense 6/9 - 1
5-70240524-CC-GG c.667_668inv p.P223G Missense 6/9 - 1
5-70240524-C-T c.667C>T p.P223S Missense 6/9 - 2
5-70240540-T-A c.683T>A p.L228* Nonsense 6/9 - 3
5-70240540-T-G c.683T>G p.L228* Nonsense 6/9 - 2
5-70240546-C-T c.689C>T p.S230L Missense 6/9 - 3
5-70240577-AC-A c.722del p.P241Qfs*2 Frameshift 6/9 - 1
5-70241891-AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGG-A c.725_783del p.I242Kfs*44 InFrameDeletion 7/9 - 1
5-70241900-C-T c.731C>T p.P244L Missense 7/9 - 4
5-70241898-T-TC c.734dup p.P246Tfs*10 Frameshift 7/9 - 2
5-70241903-C-T c.734C>T p.P245L Missense 7/9 - 2
5-70241903-C-CA c.735dup p.P246Tfs*10 Frameshift 7/9 - 1
5-70241907-A-AC c.740dup p.P248Sfs*8 Frameshift 7/9 - 1
5-70241910-TC-T c.744del p.I249Yfs*16 Frameshift 7/9 - 1
5-70241917-TG-AC c.748_749delinsAC p.C250T Missense 7/9 - 4
5-70241924-A-C c.755A>C p.D252A Missense 7/9 - 2
5-70241933-A-C c.764A>C p.D255A Missense 7/9 - 1
5-70241936-A-C c.767A>C p.D256A Missense 7/9 - 1
5-70241936-A-T c.767A>T p.D256V Missense 7/9 - 1
5-70241942-A-AC c.773_774insC p.A259Cfs*47 Frameshift 7/9 - 1
5-70241946-T-C c.777T>C p.A259= Synonymous 7/9 - 1
5-70241948-T-C c.779T>C p.L260S Missense 7/9 - 4
5-70241953-A-G c.784A>G p.S262G Missense 7/9 - 3
5-70241953-AG-GA c.784_785delinsGA p.S262D Missense 7/9 - 1
5-70241953-AG-GC c.784_785delinsGC p.S262A Missense 7/9 - 1
5-70241954-G-T c.785G>T p.S262I Missense 7/9 - 5
5-70241955-T-C c.786T>C p.S262= Synonymous 7/9 - 1
5-70241955-T-G c.786T>G p.S262R Missense 7/9 - 1
5-70241957-T-C c.788T>C p.M263T Missense 7/9 - 4
5-70241957-T-G c.788T>G p.M263R Missense 7/9 - 5
5-70241965-T-C c.796T>C p.S266P Missense 7/9 - 2
5-70241977-AG-GC c.808_809delinsGC p.S270A Missense 7/9 - 1
5-70241984-A-G c.815A>G p.Y272C Missense 7/9 - 33
5-70241984-A-T c.815A>T p.Y272F Missense 7/9 - 1
5-70241987-A-G c.818A>G p.H273R Missense 7/9 - 6
5-70241987-A-AT c.819dup p.T274Yfs*32 Frameshift 7/9 - 3
5-70241989-AC-TA c.820_821delinsTA p.T274Y Missense 7/9 - 1
5-70241990-C-T c.821C>T p.T274I Missense 7/9 - 15
5-70241992-G-A c.823G>A p.G275S Missense 7/9 - 7
5-70241993-G-C c.824G>C p.G275A Missense 7/9 - 1
5-70241993-GC-AG c.824_825delinsAG p.G275E Missense 7/9 - 1
5-70241993-G-T c.824G>T p.G275V Missense 7/9 - 1
5-70241995-T-C c.826T>C p.Y276H Missense 7/9 - 1
5-70241998-T-C c.829T>C p.Y277H Missense 7/9 - 1
5-70241999-A-G c.830A>G p.Y277C Missense 7/9 - 5
5-70242001-TATG-T c.832_834del p.M278del InFrameDeletion 7/9 - 1
5-70242005-T-G c.834+2T>G - IntronicSNV - 7/8 1
5-70247724-G-A c.835-44G>A - IntronicSNV - 7/8 3
5-70247765-C-A c.835-3C>A - IntronicSNV - 7/8 1
5-70247765-C-T c.835-3C>T - IntronicSNV - 7/8 1
5-70247766-A-C c.835-2A>C - IntronicSNV - 7/8 1
5-70247766-A-G c.835-2A>G - IntronicSNV - 7/8 1
5-70247766-A-T c.835-2A>T - IntronicSNV - 7/8 1
5-70247768-G-A c.835G>A p.G279S Missense 8/9 - 2
5-70247768-G-C c.835G>C p.G279R Missense 8/9 - 1
5-70247768-G-T c.835G>T p.G279C Missense 8/9 - 7
5-70247769-G-C c.836G>C p.G279A Missense 8/9 - 1
5-70247769-G-T c.836G>T p.G279V Missense 8/9 - 16
5-70247773-C-A c.840C>A p.F280L Missense 8/9 - 1
5-70247773-C-T c.840C>T p.F280= Synonymous 8/9 - 42
5-70247777-CA-GC c.844_845delinsGC p.Q282A Missense 8/9 - 6
5-70247777-C-T c.844C>T p.Q282* Nonsense 8/9 - 1
5-70247777-CAA-C c.847_848del p.N283Sfs*22 Frameshift 8/9 - 1
5-70247783-C-T c.850C>T p.Q284* Nonsense 8/9 - 1
5-70247783-CAAAA-C c.852_855del p.R288Afs*5 Frameshift 8/9 - 1
5-70247790-A-C c.857A>C p.E286A Missense 8/9 - 1
5-70247792-G-C c.859G>C p.G287R Missense 8/9 - 12
5-70247795-AG-TA c.862_863delinsTA p.R288* Nonsense 8/9 - 1
5-70247796-G-T c.863G>T p.R288M Missense 8/9 - 4
5-70247798-T-A c.865T>A p.C289S Missense 8/9 - 1
5-70247798-T-G c.865T>G p.C289G Missense 8/9 - 1
5-70247800-C-T c.867C>T p.C289= Synonymous 8/9 - 1
5-70247901-T-G c.*3+80T>G - IntronicSNV - 8/8 4
5-70247921-A-C c.*3+100A>C - IntronicSNV - 8/8 1
5-70247921-A-G c.*3+100A>G - IntronicSNV - 8/8 1
5-70247937-A-C c.*3+116A>C - IntronicSNV - 8/8 1
5-70248036-A-G c.*3+215A>G - IntronicSNV - 8/8 1
5-70248532-G-A c.*270G>A - 3_prime_UTR_variant 9/9 - 1