ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance for Angelman syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP
NC_000015.9:g.(?_25582396)_(25650653_?)dup
NC_000015.9:g.(?_25584264)_(25620930_?)dup
NM_000462.5(UBE3A):c.*3_*7CAAAA[2] (p.Ter876=) rs587782926
NM_000462.5(UBE3A):c.*46del rs368425414
NM_000462.5(UBE3A):c.1278C>T (p.Asp426=) rs149506027
NM_000462.5(UBE3A):c.1687_1708delinsT (p.Gln563_Val570delinsPhe) rs1566912450
NM_000462.5(UBE3A):c.1695_1697TGA[1] (p.Asp566del) rs587782909
NM_000462.5(UBE3A):c.1776C>T (p.Tyr592=) rs139082033
NM_000462.5(UBE3A):c.2415_2423del (p.Leu806_Phe808del) rs1555380809
NM_000462.5(UBE3A):c.2508-34del rs564915971
NM_000462.5(UBE3A):c.2572_2577del (p.Leu858_Lys859del) rs863225070
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_000462.5(UBE3A):c.72-19_72-17del rs587782921
NM_130838.3(UBE3A):c.1000A>G (p.Asn334Asp)
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1073C>G (p.Ala358Gly) rs1219606975
NM_130838.3(UBE3A):c.1093G>A (p.Val365Met)
NM_130838.3(UBE3A):c.1116A>T (p.Glu372Asp) rs587784510
NM_130838.3(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.3(UBE3A):c.1132A>C (p.Ile378Leu) rs200380619
NM_130838.3(UBE3A):c.1136C>G (p.Pro379Arg) rs267604140
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1422T>C (p.Asn474=)
NM_130838.3(UBE3A):c.1434G>A (p.Met478Ile) rs587782916
NM_130838.3(UBE3A):c.1548+34T>C rs587782917
NM_130838.3(UBE3A):c.1682A>G (p.Asn561Ser) rs587784517
NM_130838.3(UBE3A):c.1693+12A>G rs368720379
NM_130838.3(UBE3A):c.1693+32G>A rs373746667
NM_130838.3(UBE3A):c.1762C>G (p.Gln588Glu) rs587782918
NM_130838.3(UBE3A):c.1763A>C (p.Gln588Pro) rs587782919
NM_130838.3(UBE3A):c.1805A>G (p.Asn602Ser) rs587784521
NM_130838.3(UBE3A):c.1821T>C (p.Asp607=) rs587784522
NM_130838.3(UBE3A):c.1873T>C (p.Phe625Leu) rs398124439
NM_130838.3(UBE3A):c.1885G>A (p.Gly629Arg) rs747626553
NM_130838.3(UBE3A):c.1943A>G (p.Asn648Ser)
NM_130838.3(UBE3A):c.1970T>C (p.Phe657Ser) rs1566894864
NM_130838.3(UBE3A):c.2+20G>A rs587782906
NM_130838.3(UBE3A):c.2018T>G (p.Leu673Arg) rs587782920
NM_130838.3(UBE3A):c.2031T>C (p.Gly677=) rs587782924
NM_130838.3(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.3(UBE3A):c.2064+19T>G rs587782925
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.2075A>G (p.Asn692Ser) rs916720140
NM_130838.3(UBE3A):c.2102A>T (p.Lys701Ile) rs1555389881
NM_130838.3(UBE3A):c.2221-42T>C rs543571933
NM_130838.3(UBE3A):c.2263G>A (p.Gly755Ser) rs1566887391
NM_130838.3(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.3(UBE3A):c.2294+20A>G rs587782911
NM_130838.3(UBE3A):c.2355T>C (p.Phe785=) rs587780991
NM_130838.3(UBE3A):c.2384G>A (p.Gly795Glu)
NM_130838.3(UBE3A):c.2439-31T>G rs587782912
NM_130838.3(UBE3A):c.2439-37dup rs587782913
NM_130838.3(UBE3A):c.2439-40C>T rs373042168
NM_130838.3(UBE3A):c.2544A>T (p.Gly848=)
NM_130838.3(UBE3A):c.2549G>A (p.Gly850Asp) rs587784528
NM_130838.3(UBE3A):c.282C>T (p.Gly94=)
NM_130838.3(UBE3A):c.301+29T>C rs587782914
NM_130838.3(UBE3A):c.301+30G>A rs367646993
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
NM_130838.3(UBE3A):c.365A>C (p.Asp122Ala)
NM_130838.3(UBE3A):c.382C>T (p.Arg128Cys) rs587783101
NM_130838.3(UBE3A):c.398T>G (p.Val133Gly) rs587782915
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.510G>T (p.Lys170Asn) rs780715298
NM_130838.3(UBE3A):c.529G>T (p.Ala177Ser)
NM_130838.3(UBE3A):c.558A>T (p.Ala186=) rs143484751
NM_130838.3(UBE3A):c.587A>C (p.Gln196Pro)
NM_130838.3(UBE3A):c.611T>C (p.Leu204Ser) rs587782922
NM_130838.3(UBE3A):c.673T>G (p.Ser225Ala)
NM_130838.3(UBE3A):c.755A>G (p.Asn252Ser) rs139928148
NM_130838.3(UBE3A):c.799G>A (p.Val267Ile) rs1064794579
NM_130838.3(UBE3A):c.809A>C (p.Asn270Thr) rs587782908
NM_130838.3(UBE3A):c.855A>G (p.Leu285=) rs587782923
NM_130838.3(UBE3A):c.926A>G (p.Asn309Ser)
NM_130838.3(UBE3A):c.949A>T (p.Met317Leu) rs368318081
NM_130838.3(UBE3A):c.992A>G (p.Asn331Ser) rs747932207

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.