BBS2 Bardet-Biedl syndrome 2

Canonical transcript: NM_031885

205 unique variant annotations were identified in 125 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-56518695-C-T c.2144G>A p.Arg715Gln Missense 17/17 - 1
16-56518700-TGATT-T c.2137_2140del p.Ile713Cysfs*10 Frameshift 17/17 - 1
16-56518718-G-GG c.2121dup p.Asn708Glnfs*44 Frameshift 17/17 - 1
16-56518719-GAT-G c.2119_2120del p.Ile707Glnfs*44 Frameshift 17/17 - 1
16-56518732-G-A c.2107C>T p.Arg703* Nonsense 17/17 - 1
16-56518737-G-T c.2102C>A p.Ala701Glu Missense 17/17 - 1
16-56519097-A-G c.2060-318T>C - IntronicSNV - 16/16 1
16-56519512-GACCTGCTCT-G c.2041_2049del p.Ala682_Arg684del InFrameDeletion 16/17 - 1
16-56519544-TT-T c.2019del p.Ala674Glnfs*2 Frameshift 16/17 - 1
16-56519565-GTGTG-G c.1995_1998del p.His665Glnfs*10 Frameshift 16/17 - 2
16-56519568-G-A c.1993C>T p.His665Tyr Missense 16/17 - 1
16-56519578-GCG-AAG c.1982_1983delinsTT p.Arg661Leu Missense 16/17 - 1
16-56519587-A-C c.1974T>G p.Tyr658* Nonsense 16/17 - 1
16-56519594-ATTTAGCAAGT-A c.1958_1967del p.Asp653Valfs*20 Frameshift 16/17 - 1
16-56519629-A-T c.1932T>A p.Tyr644* Nonsense 16/17 - 2
16-56519633-C-T c.1928G>A p.Arg643His Missense 16/17 - 1
16-56529340-T-C c.1910+1539A>G - IntronicSNV - 15/16 1
16-56530879-CATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGA-C c.1852_1910del p.Ser618Glufs*12 Unclassified 15/17 - 1
16-56530894-C-G c.1895G>C p.Arg632Pro Missense 15/17 - 6
16-56530896-GAGCAT-G c.1889_1893del p.Asp630Alafs*18 Frameshift 15/17 - 1
16-56530925-G-A c.1864C>T p.Arg622* Nonsense 15/17 - 1
16-56530928-T-A c.1861A>T p.Ile621Phe Missense 15/17 - 1
16-56530975-G-C c.1814C>G p.Ser605* Nonsense 15/17 - 1
16-56530985-C-G c.1804G>C p.Glu602Gln Missense 15/17 - 1
16-56531185-C-G c.1798-194G>C - IntronicSNV - 14/16 1
16-56531185-C-T c.1798-194G>A - IntronicSNV - 14/16 1
16-56531663-G-A c.1789C>T p.Leu597Leu Synonymous 14/17 - 2
16-56531672-G-A c.1780C>T p.Arg594* Nonsense 14/17 - 1
16-56531685-AA-A c.1770del p.Phe590Leufs*8 Frameshift 14/17 - 1
16-56531716-T-C c.1736A>G p.Asp579Gly Missense 14/17 - 1
16-56531747-G-A c.1705C>T p.Gln569* Nonsense 14/17 - 1
16-56531768-C-T c.1684G>A p.Asp562Asn Missense 14/17 - 1
16-56531775-CA-C c.1677del p.Asp559Glufs*24 Frameshift 14/17 - 1
16-56531776-T-TT c.1676dup p.Asp559Glufs*2 Frameshift 14/17 - 1
16-56531779-G-A c.1673C>T p.Thr558Ile Missense 14/17 - 2
16-56531779-GT-GA c.1672delinsT p.Thr558Ser Missense 14/17 - 1
16-56531780-T-C c.1672A>G p.Thr558Ala Missense 14/17 - 1
16-56532346-T-C c.1659+3A>G - IntronicSNV - 13/16 1
16-56532360-G-A c.1648C>T p.Leu550Phe Missense 13/17 - 1
16-56532407-CA-AC c.1600_1601delinsGT p.Cys534Val Missense 13/17 - 1
16-56532418-T-G c.1590A>C p.Pro530Pro Synonymous 13/17 - 1
16-56532452-A-C c.1556T>G p.Leu519Arg Missense 13/17 - 1
16-56532455-A-G c.1553T>C p.Phe518Ser Missense 13/17 - 1
16-56532462-G-T c.1546C>A p.Gln516Lys Missense 13/17 - 1
16-56532469-GCCATACAAC-G c.1531_1539del p.Val511_Trp513del InFrameDeletion 13/17 - 1
16-56532472-T-C c.1536A>G p.Val512Val Synonymous 13/17 - 1
16-56533702-GTT-G c.1514_1515del p.Glu505Alafs*46 Frameshift 12/17 - 1
16-56533706-G-A c.1511C>T p.Ala504Val Missense 12/17 - 2
16-56533722-C-A c.1495G>T p.Val499Phe Missense 12/17 - 1
16-56533762-C-CAC c.1455_1456insTG p.Leu486Cysfs*2 Frameshift 12/17 - 1
16-56533779-G-A c.1438C>T p.Arg480* Nonsense 12/17 - 3
16-56533792-TGT-GAC c.1423_1425delinsGTC p.Thr475Val Missense 12/17 - 1
16-56533794-T-C c.1423A>G p.Thr475Ala Missense 12/17 - 1
16-56533819-G-A c.1398C>T p.Ser466Ser Synonymous 12/17 - 1
16-56534792-TC-T c.1371del p.Lys458Argfs*29 Frameshift 11/17 - 1
16-56534794-AA-A c.1370del p.Leu457* Frameshift 11/17 - 1
16-56534825-GCACAA-G c.1334_1338del p.Ile445Thrfs*27 Frameshift 11/17 - 1
16-56534827-C-A c.1336G>T p.Val446Leu Missense 11/17 - 1
16-56534827-C-G c.1336G>C p.Val446Leu Missense 11/17 - 1
16-56534865-CT-GC c.1297_1298delinsGC p.Ser433Ala Missense 11/17 - 1
16-56534878-C-CC c.1285dup p.Val429Glyfs*45 Frameshift 11/17 - 1
16-56534926-G-A c.1237C>T p.Arg413* Nonsense 11/17 - 8
16-56535283-G-A c.1207C>T p.Arg403Cys Missense 10/17 - 1
16-56535306-GGTCTCATTC-G c.1176_1184del p.Asn393_Thr395del InFrameDeletion 10/17 - 1
16-56535310-C-T c.1180G>A p.Glu394Lys Missense 10/17 - 1
16-56535315-C-T c.1175G>A p.Gly392Glu Missense 10/17 - 1
16-56535321-C-A c.1169G>T p.Ser390Ile Missense 10/17 - 1
16-56535357-TGGGAT-T c.1130_1134del p.Ile377Serfs*16 Frameshift 10/17 - 1
16-56535379-C-T c.1111G>A p.Asp371Asn Missense 10/17 - 1
16-56535398-GG-AG c.1092delinsT p.Ala364Ala Missense 10/17 - 2
16-56535399-GG-G c.1092del p.Ser365Valfs*3 Frameshift 10/17 - 2
16-56535399-G-T c.1091C>A p.Ala364Asp Missense 10/17 - 1
16-56535401-CC-C c.1090del p.Ala364Profs*4 Frameshift 10/17 - 1
16-56536242-CTC-C c.1067_1068del p.Glu356Glyfs*6 Frameshift 9/17 - 1
16-56536247-G-C c.1062C>G p.Asn354Lys Missense 9/17 - 1
16-56536250-A-AA c.1059dup p.Asn354* Nonsense 9/17 - 1
16-56536260-A-C c.1049T>G p.Leu350Arg Missense 9/17 - 1
16-56536261-G-A c.1048C>T p.Leu350Leu Synonymous 9/17 - 1
16-56536263-A-C c.1046T>G p.Leu349Trp Missense 9/17 - 1
16-56536276-T-A c.1033A>T p.Lys345* Nonsense 9/17 - 1
16-56536294-G-A c.1015C>T p.Arg339* Nonsense 9/17 - 1
16-56536323-A-G c.986T>C p.Met329Thr Missense 9/17 - 2
16-56536343-A-AA c.966dup p.Glu323* Nonsense 9/17 - 1
16-56536353-G-A c.956C>T p.Pro319Leu Missense 9/17 - 1
16-56536365-C-T c.944G>A p.Arg315Gln Missense 9/17 - 1
16-56536489-A-T c.940+96T>A - IntronicSNV - 8/16 1
16-56536549-C-T c.940+36G>A - IntronicSNV - 8/16 1
16-56536587-TT-T c.940del p.Ile314Serfs*11 Frameshift 8/17 - 1
16-56536595-C-CCTT c.929_930insAAG p.Val310_Asp311insArg InFrameInsertion 8/17 - 1
16-56536605-C-T c.920G>A p.Cys307Tyr Missense 8/17 - 1
16-56536613-ACTGT-A c.909_912del p.Gln304* Frameshift 8/17 - 1
16-56536626-T-C c.899A>G p.Asp300Gly Missense 8/17 - 1
16-56536645-TCT-T c.881_882del p.Glu294Glyfs*29 Frameshift 8/17 - 1
16-56536655-GGC-TGG c.868_870delinsCCA p.Ala290Pro Missense 8/17 - 1
16-56536656-GC-TT c.868_869delinsAA p.Ala290Asn Missense 8/17 - 1
16-56536658-A-C c.867T>G p.Ile289Met Missense 8/17 - 1
16-56536660-T-C c.865A>G p.Ile289Val Missense 8/17 - 1
16-56536675-TT-T c.851del p.Asn284Ilefs*10 Frameshift 8/17 - 1
16-56536682-TAAAGATGACCTCCCCAG-T c.827_843del p.Thr276Lysfs*42 Frameshift 8/17 - 1
16-56536695-C-T c.830G>A p.Gly277Glu Missense 8/17 - 1
16-56536696-C-G c.829G>C p.Gly277Arg Missense 8/17 - 1
16-56536702-G-A c.823C>T p.Arg275* Nonsense 8/17 - 7
16-56536711-G-A c.814C>T p.Arg272* Nonsense 8/17 - 2
16-56539870-T-TA c.795_796insT p.Asn266* Nonsense 7/17 - 1
16-56539872-GA-AA c.794delinsT p.Ser265Phe Missense 7/17 - 1
16-56539898-TCC-TAT c.766_767delinsAT p.Gly256Ile Missense 7/17 - 1
16-56539899-CC-CT c.766delinsA p.Gly256Arg Missense 7/17 - 2
16-56539922-CATGAATGCTCA-C c.734_744del p.Met245Serfs*3 Frameshift 7/17 - 1
16-56539923-TG-GC c.742_743delinsGC p.His248Ala Missense 7/17 - 1
16-56539936-GCATG-G c.728_731del p.His243Profs*2 Frameshift 7/17 - 1
16-56540048-C-G c.701G>C p.Arg234Pro Missense 6/17 - 1
16-56540049-G-A c.700C>T p.Arg234* Nonsense 6/17 - 1
16-56540062-CA-C c.687del p.Tyr229* Frameshift 6/17 - 2
16-56540081-TT-GC c.667_668delinsGC p.Asn223Ala Missense 6/17 - 1
16-56540087-A-G c.662T>C p.Leu221Pro Missense 6/17 - 1
16-56540103-G-A c.646C>T p.Arg216* Nonsense 6/17 - 1
16-56540117-G-A c.632C>T p.Pro211Leu Missense 6/17 - 1
16-56540123-A-G c.626T>C p.Leu209Pro Missense 6/17 - 2
16-56540190-G-C c.613-54C>G - IntronicSNV - 5/16 4
16-56543558-A-G c.612+311T>C - IntronicSNV - 5/16 1
16-56543761-A-G c.612+108T>C - IntronicSNV - 5/16 1
16-56543877-TCTGTCA-T c.599_604del p.Met200_Glu202delinsLys MultiAAMissense 5/17 - 1
16-56543878-CTGT-C c.601_603del p.Thr201del InFrameDeletion 5/17 - 1
16-56543897-T-C c.584A>G p.Glu195Gly Missense 5/17 - 1
16-56543915-C-T c.566G>A p.Arg189Gln Missense 5/17 - 1
16-56543916-G-A c.565C>T p.Arg189* Nonsense 5/17 - 6
16-56543918-GA-G c.563del p.Ile188Thrfs*13 Frameshift 5/17 - 2
16-56543927-T-G c.554A>C p.Asp185Ala Missense 5/17 - 1
16-56543930-T-C c.551A>G p.Glu184Gly Missense 5/17 - 4
16-56544775-T-C c.530A>G p.Lys177Arg Missense 4/17 - 1
16-56544783-A-C c.522T>G p.Asp174Glu Missense 4/17 - 1
16-56544783-A-T c.522T>A p.Asp174Glu Missense 4/17 - 1
16-56544801-AC-A c.504del p.Leu168Phefs*33 Frameshift 4/17 - 2
16-56544817-A-G c.488T>C p.Val163Ala Missense 4/17 - 1
16-56544826-C-T c.479G>A p.Gly160Glu Missense 4/17 - 1
16-56544827-C-G c.478G>C p.Gly160Arg Missense 4/17 - 1
16-56544827-C-T c.478G>A p.Gly160Arg Missense 4/17 - 1
16-56544829-G-A c.476C>T p.Thr159Ile Missense 4/17 - 1
16-56544835-T-C c.472-2A>G - IntronicSNV - 3/16 2
16-56545071-C-T c.471G>A p.Thr157Thr Synonymous 3/17 - 2
16-56545080-G-C c.462C>G p.Leu154Leu Synonymous 3/17 - 1
16-56545100-T-G c.442A>C p.Asn148His Missense 3/17 - 1
16-56545103-A-T c.439T>A p.Phe147Ile Missense 3/17 - 1
16-56545123-C-T c.419G>A p.Gly140Asp Missense 3/17 - 1
16-56545141-G-C c.401C>G p.Pro134Arg Missense 3/17 - 2
16-56545148-A-T c.394T>A p.Ser132Thr Missense 3/17 - 2
16-56545149-A-C c.393T>G p.Ile131Met Missense 3/17 - 1
16-56545168-AG-AC c.373delinsG p.Leu125Val Missense 3/17 - 1
16-56545175-T-C c.367A>G p.Ile123Val Missense 3/17 - 6
16-56545187-C-T c.355G>A p.Gly119Arg Missense 3/17 - 1
16-56548368-T-TT c.342dup p.Glu115Argfs*36 Frameshift 2/17 - 1
16-56548371-G-C c.339C>G p.Tyr113* Nonsense 2/17 - 2
16-56548371-G-T c.339C>A p.Tyr113* Nonsense 2/17 - 2
16-56548376-A-G c.334T>C p.Phe112Leu Missense 2/17 - 1
16-56548399-T-G c.311A>C p.Asp104Ala Missense 2/17 - 4
16-56548410-AAG-GAG c.300delinsC p.Leu100Leu Missense 2/17 - 1
16-56548411-A-G c.299T>C p.Leu100Pro Missense 2/17 - 3
16-56548417-GT-GG c.292delinsC p.Thr98Pro Missense 2/17 - 2
16-56548435-A-AA c.278dup p.Leu93Phefs*7 Frameshift 2/17 - 1
16-56548438-G-GA c.271_272insT p.Ala91Valfs*9 Frameshift 2/17 - 1
16-56548438-GG-G c.274del p.Leu92Phefs*2 Frameshift 2/17 - 1
16-56548439-C-CC c.271dup p.Ala91Glyfs*9 Frameshift 2/17 - 4
16-56548444-T-C c.266A>G p.Tyr89Cys Missense 2/17 - 1
16-56548447-C-A c.263G>T p.Gly88Val Missense 2/17 - 1
16-56548448-CC-C c.263del p.Gly88Alafs*6 Frameshift 2/17 - 1
16-56548465-A-G c.245T>C p.Val82Ala Missense 2/17 - 1
16-56548466-C-T c.244G>A p.Val82Ile Missense 2/17 - 1
16-56548469-C-A c.241G>T p.Gly81Cys Missense 2/17 - 1
16-56548475-T-TT c.235dup p.Thr79Asnfs*8 Frameshift 2/17 - 3
16-56548486-A-C c.224T>G p.Val75Gly Missense 2/17 - 3
16-56548487-C-T c.223G>A p.Val75Ile Missense 2/17 - 1
16-56548488-T-A c.222A>T p.Ala74Ala Synonymous 2/17 - 2
16-56548488-T-C c.222A>G p.Ala74Ala Synonymous 2/17 - 2
16-56548488-T-G c.222A>C p.Ala74Ala Synonymous 2/17 - 2
16-56548491-CCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATG-C c.161_219del p.Ala54Glyfs*13 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/17 - 1
16-56548492-T-A c.218A>T p.Gln73Leu Missense 2/17 - 4
16-56548492-T-C c.218A>G p.Gln73Arg Missense 2/17 - 1
16-56548501-C-T c.209G>A p.Asn70Asn Missense 2/17 - 9
16-56548505-G-A c.205C>T p.Leu69Phe Missense 2/17 - 1
16-56548512-AAC-ATG c.196_197delinsCA p.Val66His Missense 2/17 - 1
16-56548535-G-A c.175C>T p.Gln59* Nonsense 2/17 - 6
16-56548537-A-C c.173T>G p.Phe58Cys Missense 2/17 - 2
16-56548543-CT-CA c.166delinsT p.Arg56Trp Missense 2/17 - 1
16-56548543-CT-CC c.166delinsG p.Arg56Gly Missense 2/17 - 1
16-56548544-T-C c.166A>G p.Arg56Gly Missense 2/17 - 1
16-56548550-GC-G c.160del p.Ala54Hisfs*25 Frameshift 2/17 - 1
16-56548569-TGT-GAC c.139_141delinsGTC p.Thr47Val Missense 2/17 - 2
16-56548573-T-C c.137A>G p.His46Arg Missense 2/17 - 1
16-56548575-A-C c.135T>G p.Pro45Pro Synonymous 2/17 - 1
16-56548575-A-G c.135T>C p.Pro45Pro Synonymous 2/17 - 1
16-56548575-A-T c.135T>A p.Pro45Pro Synonymous 2/17 - 1
16-56548578-A-C c.132T>G p.Asn44Lys Missense 2/17 - 1
16-56548593-CC-C c.118del - Frameshift - 1/16 1
16-56553657-C-A c.117+1G>T - IntronicSNV - 1/16 1
16-56553689-G-A c.86C>T p.Pro29Leu Missense 1/17 - 1
16-56553691-GG-G c.86del p.Pro29Argfs*50 Frameshift 1/17 - 1
16-56553703-G-A c.72C>T p.Tyr24Tyr Synonymous 1/17 - 1
16-56553703-G-C c.72C>G p.Tyr24* Nonsense 1/17 - 11
16-56553707-C-G c.68G>C p.Arg23Pro Missense 1/17 - 2
16-56553719-A-C c.56T>G p.Val19Gly Missense 1/17 - 1
16-56553724-TCG-TGT c.49_50delinsAC p.Arg17Thr Missense 1/17 - 1
16-56553728-GGGG-G c.47_49del p.Pro16del InFrameDeletion 1/17 - 1
16-56553768-G-A c.7C>T p.Leu3Leu Synonymous 1/17 - 1
16-56553773-A-T c.2T>A p.Met1? Missense 1/17 - 1
16-56553826-G-A c.-52C>T - 5-UTRSNV 1/17 - 1