OSTM1

OSTM1 osteoclastogenesis associated transmembrane protein 1

Annotation transcript: NM_014028.4

283 unique variant annotations were identified in 166 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
6-108362833-T-G c.*3156A>C - 3-UTRSNV 6/6 - 1
6-108363102-C-A c.*2887G>T - 3-UTRSNV 6/6 - 1
6-108363102-C-T c.*2887G>A - 3-UTRSNV 6/6 - 1
6-108363234-T-C c.*2755A>G - 3-UTRSNV 6/6 - 1
6-108363627-T-C c.*2362A>G - 3-UTRSNV 6/6 - 1
6-108363645-G-A c.*2344C>T - 3-UTRSNV 6/6 - 1
6-108363645-G-C c.*2344C>G - 3-UTRSNV 6/6 - 1
6-108363660-C-A c.*2329G>T - 3-UTRSNV 6/6 - 1
6-108363688-T-C c.*2301A>G - 3-UTRSNV 6/6 - 2
6-108363706-A-C c.*2283T>G - 3-UTRSNV 6/6 - 1
6-108363706-A-G c.*2283T>C - 3-UTRSNV 6/6 - 1
6-108363895-T-C c.*2094A>G - 3-UTRSNV 6/6 - 1
6-108363936-G-A c.*2053C>T - 3-UTRSNV 6/6 - 1
6-108364106-A-G c.*1883T>C - 3-UTRSNV 6/6 - 3
6-108364582-T-C c.*1407A>G - 3-UTRSNV 6/6 - 4
6-108364637-T-C c.*1352A>G - 3-UTRSNV 6/6 - 2
6-108364655-A-G c.*1334T>C - 3-UTRSNV 6/6 - 2
6-108364951-T-C c.*1038A>G - 3-UTRSNV 6/6 - 2
6-108365658-T-C c.*331A>G - 3-UTRSNV 6/6 - 3
6-108365842-C-A c.*147G>T - 3-UTRSNV 6/6 - 1
6-108365842-C-T c.*147G>A - 3-UTRSNV 6/6 - 1
6-108366000-T-C c.994A>G p.N332D Missense 6/6 - 2
6-108366005-T-C c.989A>G p.Q330R Missense 6/6 - 1
6-108366008-A-G c.986T>C p.I329T Missense 6/6 - 1
6-108366011-T-A c.983A>T p.N328I Missense 6/6 - 1
6-108366015-C-A c.979G>T p.A327S Missense 6/6 - 3
6-108366015-C-T c.979G>A p.A327T Missense 6/6 - 1
6-108366023-G-A c.971C>T p.T324I Missense 6/6 - 1
6-108366025-A-C c.969T>G p.S323R Missense 6/6 - 1
6-108366025-A-T c.969T>A p.S323R Missense 6/6 - 1
6-108366027-T-G c.967A>C p.S323R Missense 6/6 - 1
6-108366028-G-A c.966C>T p.S322= Synonymous 6/6 - 1
6-108366028-G-C c.966C>G p.S322= Synonymous 6/6 - 1
6-108366028-G-T c.966C>A p.S322= Synonymous 6/6 - 1
6-108366038-C-T c.956G>A p.R319H Missense 6/6 - 2
6-108366039-G-A c.955C>T p.R319C Missense 6/6 - 1
6-108366044-G-A c.950C>T p.P317L Missense 6/6 - 1
6-108368673-G-A c.949+1784C>T - IntronicSNV - 5/5 1
6-108369352-C-CT c.949+1104dup - IntronicInsertion - 5/5 1
6-108370369-T-A c.949+88A>T - IntronicSNV - 5/5 1
6-108370452-C-T c.949+5G>A - IntronicSNV - 5/5 1
6-108370456-C-T c.949+1G>A - IntronicSNV - 5/5 2
6-108370457-G-A c.949C>T p.P317S Missense 5/6 - 2
6-108370465-A-T c.941T>A p.L314H Missense 5/6 - 1
6-108370471-C-T c.935G>A p.R312H Missense 5/6 - 3
6-108370472-G-A c.934C>T p.R312C Missense 5/6 - 1
6-108370486-G-C c.920C>G p.S307* Nonsense 5/6 - 2
6-108370486-G-T c.920C>A p.S307* Nonsense 5/6 - 1
6-108370490-G-A c.916C>T p.H306Y Missense 5/6 - 2
6-108370505-G-A c.901C>T p.L301F Missense 5/6 - 4
6-108370517-C-T c.889G>A p.V297I Missense 5/6 - 2
6-108370519-G-A c.887C>T p.P296L Missense 5/6 - 2
6-108370526-A-C c.880T>G p.F294V Missense 5/6 - 1
6-108370531-A-C c.875T>G p.I292S Missense 5/6 - 2
6-108370531-A-G c.875T>C p.I292T Missense 5/6 - 1
6-108370533-G-C c.873C>G p.F291L Missense 5/6 - 1
6-108370535-A-C c.871T>G p.F291V Missense 5/6 - 1
6-108370540-G-A c.866C>T p.S289F Missense 5/6 - 2
6-108370556-G-A c.850C>T p.P284S Missense 5/6 - 3
6-108370559-C-A c.847G>T p.V283L Missense 5/6 - 1
6-108370559-C-G c.847G>C p.V283L Missense 5/6 - 1
6-108370562-T-C c.844A>G p.T282A Missense 5/6 - 1
6-108370565-C-G c.841G>C p.D281H Missense 5/6 - 1
6-108370573-G-A c.833C>T p.P278L Missense 5/6 - 1
6-108370574-G-A c.832C>T p.P278S Missense 5/6 - 1
6-108370583-A-C c.823T>G p.C275G Missense 5/6 - 1
6-108370585-T-C c.821A>G p.N274S Missense 5/6 - 2
6-108370591-G-A c.815C>T p.T272I Missense 5/6 - 1
6-108370591-G-C c.815C>G p.T272S Missense 5/6 - 1
6-108370594-C-T c.812G>A p.R271Q Missense 5/6 - 2
6-108370595-G-A c.811C>T p.R271* Nonsense 5/6 - 1
6-108370596-A-G c.810T>C p.S270= Synonymous 5/6 - 1
6-108370597-C-T c.809G>A p.S270N Missense 5/6 - 1
6-108370609-C-T c.797G>A p.R266Q Missense 5/6 - 4
6-108370617-G-A c.789C>T p.N263= Synonymous 5/6 - 1
6-108370618-T-C c.788A>G p.N263S Missense 5/6 - 2
6-108370622-T-C c.784A>G p.M262V Missense 5/6 - 1
6-108370656-A-G c.784-34T>C - IntronicSNV - 4/5 1
6-108370656-A-T c.784-34T>A - IntronicSNV - 4/5 1
6-108372156-C-A c.783+79G>T - IntronicSNV - 4/5 2
6-108372208-G-C c.783+27C>G - IntronicSNV - 4/5 2
6-108372230-C-A c.783+5G>T - IntronicSNV - 4/5 1
6-108372234-C-T c.783+1G>A - IntronicSNV - 4/5 1
6-108372234-CTGCA-C c.780_783del p.D260Efs*2 SpliceDonorDeletion 4/6 - 1
6-108372237-C-T c.781G>A p.A261T Missense 4/6 - 1
6-108372250-A-G c.768T>C p.I256= Synonymous 4/6 - 1
6-108372265-TCC-GCT c.751_753delinsAGC p.G251S Missense 4/6 - 1
6-108372269-G-A c.749C>T p.P250L Missense 4/6 - 1
6-108372270-G-T c.748C>A p.P250T Missense 4/6 - 1
6-108372271-T-A c.747A>T p.E249D Missense 4/6 - 2
6-108372271-T-G c.747A>C p.E249D Missense 4/6 - 2
6-108372273-C-A c.745G>T p.E249* Nonsense 4/6 - 1
6-108372273-C-G c.745G>C p.E249Q Missense 4/6 - 1
6-108372284-T-G c.734A>C p.E245A Missense 4/6 - 2
6-108372287-A-G c.731T>C p.L244P Missense 4/6 - 2
6-108372296-AT-TA c.721_722delinsTA p.M241* Nonsense 4/6 - 2
6-108372297-T-TTA c.720_721insTA p.M241* Nonsense 4/6 - 1
6-108372296-A-AT c.721dup p.M241Nfs*3 Frameshift 4/6 - 6
6-108372296-AT-A c.721del p.M241* Frameshift 4/6 - 1
6-108372303-G-A c.715C>T p.Q239* Nonsense 4/6 - 1
6-108372304-C-T c.714G>A p.M238I Missense 4/6 - 1
6-108372306-T-C c.712A>G p.M238V Missense 4/6 - 1
6-108372309-C-A c.709G>T p.E237* Nonsense 4/6 - 1
6-108372312-T-C c.706A>G p.S236G Missense 4/6 - 1
6-108372314-T-C c.704A>G p.Y235C Missense 4/6 - 1
6-108372323-C-T c.695G>A p.S232N Missense 4/6 - 1
6-108372324-T-C c.694A>G p.S232G Missense 4/6 - 1
6-108372327-G-A c.691C>T p.L231= Synonymous 4/6 - 1
6-108372335-T-A c.683A>T p.Y228F Missense 4/6 - 2
6-108372336-A-T c.682T>A p.Y228N Missense 4/6 - 1
6-108372337-T-A c.681A>T p.A227= Synonymous 4/6 - 1
6-108372338-G-A c.680C>T p.A227V Missense 4/6 - 1
6-108372339-C-T c.679G>A p.A227T Missense 4/6 - 1
6-108372344-C-A c.674G>T p.R225L Missense 4/6 - 3
6-108372358-T-A c.660A>T p.V220= Synonymous 4/6 - 1
6-108372358-T-C c.660A>G p.V220= Synonymous 4/6 - 1
6-108372358-T-G c.660A>C p.V220= Synonymous 4/6 - 1
6-108372360-C-T c.658G>A p.V220I Missense 4/6 - 1
6-108372369-A-AT c.648_649insA p.Y217Ifs*10 Frameshift 4/6 - 1
6-108372370-A-C c.648T>G p.N216K Missense 4/6 - 2
6-108372370-A-T c.648T>A p.N216K Missense 4/6 - 2
6-108372372-T-C c.646A>G p.N216D Missense 4/6 - 1
6-108372370-A-AT c.647dup p.N216Kfs*11 Frameshift 4/6 - 2
6-108372377-G-T c.641C>A p.T214K Missense 4/6 - 1
6-108372381-G-C c.637C>G p.Q213E Missense 4/6 - 1
6-108372396-C-T c.622G>A p.A208T Missense 4/6 - 1
6-108373413-C-A c.616-1011G>T - IntronicSNV - 3/5 1
6-108373413-C-T c.616-1011G>A - IntronicSNV - 3/5 1
6-108375468-T-G c.615+226A>C - IntronicSNV - 3/5 1
6-108375581-T-C c.615+113A>G - IntronicSNV - 3/5 3
6-108375585-A-T c.615+109T>A - IntronicSNV - 3/5 1
6-108375696-G-T c.613C>A p.Q205K Missense 3/6 - 1
6-108375707-T-A c.602A>T p.E201V Missense 3/6 - 1
6-108375715-GG-CA c.593_594delinsTG p.T198M Missense 3/6 - 1
6-108375720-G-T c.589C>A p.L197M Missense 3/6 - 1
6-108375721-G-A c.588C>T p.T196= Synonymous 3/6 - 2
6-108375721-G-C c.588C>G p.T196= Synonymous 3/6 - 1
6-108375721-G-T c.588C>A p.T196= Synonymous 3/6 - 1
6-108375727-A-T c.582T>A p.N194K Missense 3/6 - 1
6-108375731-A-C c.578T>G p.F193C Missense 3/6 - 1
6-108375734-A-G c.575T>C p.L192P Missense 3/6 - 1
6-108375736-A-G c.573T>C p.N191= Synonymous 3/6 - 1
6-108375742-G-A c.567C>T p.F189= Synonymous 3/6 - 1
6-108375752-G-A c.557C>T p.T186I Missense 3/6 - 1
6-108375753-T-A c.556A>T p.T186S Missense 3/6 - 4
6-108375758-T-C c.551A>G p.N184S Missense 3/6 - 2
6-108375761-G-A c.548C>T p.S183L Missense 3/6 - 2
6-108375763-T-A c.546A>T p.L182F Missense 3/6 - 1
6-108375777-T-TA c.531_532insT p.N178* Nonsense 3/6 - 1
6-108383046-CA-C c.517+2342del - IntronicDeletion - 2/5 1
6-108385320-A-C c.517+69T>G - IntronicSNV - 2/5 1
6-108385320-A-G c.517+69T>C - IntronicSNV - 2/5 1
6-108385397-T-G c.509A>C p.N170T Missense 2/6 - 1
6-108385408-C-G c.498G>C p.W166C Missense 2/6 - 1
6-108385408-C-T c.498G>A p.W166* Nonsense 2/6 - 1
6-108385409-C-T c.497G>A p.W166* Nonsense 2/6 - 1
6-108385411-T-A c.495A>T p.T165= Synonymous 2/6 - 1
6-108385411-T-C c.495A>G p.T165= Synonymous 2/6 - 1
6-108385411-T-G c.495A>C p.T165= Synonymous 2/6 - 1
6-108385415-G-A c.491C>T p.T164I Missense 2/6 - 1
6-108385419-T-TA c.486dup p.N163* Nonsense 2/6 - 1
6-108385423-A-C c.483T>G p.F161L Missense 2/6 - 1
6-108385423-A-T c.483T>A p.F161L Missense 2/6 - 1
6-108385425-A-G c.481T>C p.F161L Missense 2/6 - 1
6-108385427-T-C c.479A>G p.E160G Missense 2/6 - 1
6-108385430-G-A c.476C>T p.S159L Missense 2/6 - 1
6-108385434-G-T c.472C>A p.L158I Missense 2/6 - 1
6-108385452-T-C c.454A>G p.M152V Missense 2/6 - 1
6-108385460-G-C c.446C>G p.A149G Missense 2/6 - 1
6-108385461-C-G c.445G>C p.A149P Missense 2/6 - 1
6-108385463-AT-A c.442del p.M148Wfs*7 Frameshift 2/6 - 1
6-108385478-G-A c.428C>T p.A143V Missense 2/6 - 2
6-108385484-C-G c.422G>C p.S141T Missense 2/6 - 1
6-108385486-C-G c.420G>C p.Q140H Missense 2/6 - 1
6-108385488-G-A c.418C>T p.Q140* Nonsense 2/6 - 1
6-108385488-G-C c.418C>G p.Q140E Missense 2/6 - 1
6-108385495-T-TG c.410dup p.E138Rfs*14 Frameshift 2/6 - 1
6-108385497-A-G c.409T>C p.S137P Missense 2/6 - 1
6-108385502-T-A c.404A>T p.N135I Missense 2/6 - 1
6-108385690-C-T c.403-187G>A - IntronicSNV - 1/5 1
6-108392518-GT-G c.402+2935del - IntronicDeletion - 1/5 1
6-108394388-C-A c.402+1066G>T - IntronicSNV - 1/5 1
6-108395285-A-C c.402+169T>G - IntronicSNV - 1/5 1
6-108395447-T-C c.402+7A>G - IntronicSNV - 1/5 1
6-108395449-C-T c.402+5G>A - IntronicSNV - 1/5 1
6-108395456-C-A c.400G>T p.G134W Missense 1/6 - 1
6-108395456-C-T c.400G>A p.G134R Missense 1/6 - 1
6-108395464-C-A c.392G>T p.R131L Missense 1/6 - 4
6-108395479-A-G c.377T>C p.M126T Missense 1/6 - 1
6-108395486-T-C c.370A>G p.S124G Missense 1/6 - 1
6-108395487-G-T c.369C>A p.V123= Synonymous 1/6 - 1
6-108395490-G-C c.366C>G p.V122= Synonymous 1/6 - 1
6-108395499-G-A c.357C>T p.F119= Synonymous 1/6 - 2
6-108395504-G-C c.352C>G p.L118V Missense 1/6 - 1
6-108395505-G-A c.351C>T p.P117= Synonymous 1/6 - 1
6-108395505-G-C c.351C>G p.P117= Synonymous 1/6 - 1
6-108395505-G-T c.351C>A p.P117= Synonymous 1/6 - 1
6-108395506-G-A c.350C>T p.P117L Missense 1/6 - 1
6-108395508-G-A c.348C>T p.Y116= Synonymous 1/6 - 1
6-108395512-C-T c.344G>A p.C115Y Missense 1/6 - 1
6-108395515-G-A c.341C>T p.T114I Missense 1/6 - 1
6-108395521-C-T c.335G>A p.C112Y Missense 1/6 - 1
6-108395526-G-A c.330C>T p.R110= Synonymous 1/6 - 1
6-108395531-C-T c.325G>A p.V109M Missense 1/6 - 1
6-108395531-CG-C c.324del p.V109Cfs*39 Frameshift 1/6 - 1
6-108395539-G-A c.317C>T p.A106V Missense 1/6 - 1
6-108395540-C-T c.316G>A p.A106T Missense 1/6 - 1
6-108395543-T-C c.313A>G p.S105G Missense 1/6 - 1
6-108395548-A-T c.308T>A p.V103E Missense 1/6 - 1
6-108395557-C-T c.299G>A p.G100E Missense 1/6 - 1
6-108395568-T-A c.288A>T p.A96= Synonymous 1/6 - 1
6-108395568-T-C c.288A>G p.A96= Synonymous 1/6 - 1
6-108395568-T-G c.288A>C p.A96= Synonymous 1/6 - 1
6-108395570-C-T c.286G>A p.A96T Missense 1/6 - 1
6-108395571-G-A c.285C>T p.S95= Synonymous 1/6 - 2
6-108395572-C-A c.284G>T p.S95I Missense 1/6 - 1
6-108395574-G-T c.282C>A p.S94R Missense 1/6 - 1
6-108395578-T-C c.278A>G p.N93S Missense 1/6 - 2
6-108395581-G-A c.275C>T p.A92V Missense 1/6 - 1
6-108395582-C-A c.274G>T p.A92S Missense 1/6 - 1
6-108395582-C-T c.274G>A p.A92T Missense 1/6 - 1
6-108395590-A-C c.266T>G p.L89R Missense 1/6 - 1
6-108395597-G-A c.259C>T p.L87F Missense 1/6 - 1
6-108395601-C-A c.255G>T p.R85= Synonymous 1/6 - 1
6-108395601-C-G c.255G>C p.R85= Synonymous 1/6 - 1
6-108395601-C-T c.255G>A p.R85= Synonymous 1/6 - 1
6-108395603-G-T c.253C>A p.R85= Synonymous 1/6 - 1
6-108395606-A-T c.250T>A p.C84S Missense 1/6 - 1
6-108395611-G-A c.245C>T p.P82L Missense 1/6 - 1
6-108395611-G-T c.245C>A p.P82H Missense 1/6 - 1
6-108395614-T-A c.242A>T p.D81V Missense 1/6 - 1
6-108395614-T-C c.242A>G p.D81G Missense 1/6 - 1
6-108395618-G-T c.238C>A p.L80M Missense 1/6 - 1
6-108395625-C-T c.231G>A p.L77= Synonymous 1/6 - 1
6-108395626-AGGTCCGG-A c.223_229del p.P75Cfs*22 Frameshift 1/6 - 1
6-108395636-G-A c.220C>T p.P74S Missense 1/6 - 1
6-108395649-C-A c.207G>T p.G69= Synonymous 1/6 - 1
6-108395650-C-T c.206G>A p.G69E Missense 1/6 - 1
6-108395654-G-C c.202C>G p.L68V Missense 1/6 - 1
6-108395658-T-C c.198A>G p.G66= Synonymous 1/6 - 1
6-108395666-G-A c.190C>T p.Q64* Nonsense 1/6 - 1
6-108395672-G-C c.184C>G p.L62V Missense 1/6 - 1
6-108395675-A-T c.181T>A p.S61T Missense 1/6 - 2
6-108395680-G-A c.176C>T p.S59F Missense 1/6 - 1
6-108395681-A-C c.175T>G p.S59A Missense 1/6 - 2
6-108395683-A-G c.173T>C p.L58S Missense 1/6 - 2
6-108395684-A-C c.172T>G p.L58V Missense 1/6 - 1
6-108395700-C-A c.156G>T p.L52F Missense 1/6 - 1
6-108395700-C-G c.156G>C p.L52F Missense 1/6 - 4
6-108395710-T-C c.146A>G p.E49G Missense 1/6 - 1
6-108395714-A-C c.142T>G p.S48A Missense 1/6 - 1
6-108395719-A-G c.137T>C p.L46P Missense 1/6 - 1
6-108395730-G-T c.126C>A p.V42= Synonymous 1/6 - 1
6-108395733-C-T c.123G>A p.R41= Synonymous 1/6 - 1
6-108395735-T-G c.121A>C p.R41= Synonymous 1/6 - 1
6-108395731-AC-A c.124del p.V42Sfs*57 Frameshift 1/6 - 1
6-108395759-G-A c.97C>T p.L33F Missense 1/6 - 1
6-108395761-G-A c.95C>T p.A32V Missense 1/6 - 1
6-108395765-C-T c.91G>A p.G31S Missense 1/6 - 1
6-108395770-GC-AG c.85_86delinsCT p.A29L Missense 1/6 - 1
6-108395770-GC-AT c.85_86delinsAT p.A29I Missense 1/6 - 1
6-108395770-G-T c.86C>A p.A29D Missense 1/6 - 2
6-108395773-AG-TC c.82_83delinsGA p.L28E Missense 1/6 - 1
6-108395777-C-A c.79G>T p.G27W Missense 1/6 - 1
6-108395779-G-A c.77C>T p.S26L Missense 1/6 - 1
6-108395779-G-C c.77C>G p.S26W Missense 1/6 - 1
6-108395781-C-A c.75G>T p.W25C Missense 1/6 - 2
6-108395781-C-G c.75G>C p.W25C Missense 1/6 - 2
6-108395781-C-T c.75G>A p.W25* Nonsense 1/6 - 1
6-108395782-C-T c.74G>A p.W25* Nonsense 1/6 - 1
6-108395788-AG-GC c.67_68delinsGC p.L23A Missense 1/6 - 1
6-108395790-C-A c.66G>T p.L22= Synonymous 1/6 - 2
6-108395790-C-G c.66G>C p.L22= Synonymous 1/6 - 2
6-108395790-C-T c.66G>A p.L22= Synonymous 1/6 - 2
6-108395792-G-A c.64C>T p.L22= Synonymous 1/6 - 3
6-108395793-C-A c.63G>T p.G21= Synonymous 1/6 - 1
6-108395807-A-C c.49T>G p.W17G Missense 1/6 - 1
6-108395811-C-T c.45G>A p.P15= Synonymous 1/6 - 1
6-108395812-G-A c.44C>T p.P15L Missense 1/6 - 1
6-108395812-G-T c.44C>A p.P15Q Missense 1/6 - 3
6-108395820-A-C c.36T>G p.C12W Missense 1/6 - 1
6-108395831-G-A c.25C>T p.Q9* Nonsense 1/6 - 1
6-108395848-G-A c.8C>T p.P3L Missense 1/6 - 2