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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh38:
Chr16:46385317-61223349
NKD1, LOC100507577, CASC16, CHD9, LOC112469007, GOT2, LOC112449715, LINC02134, NUP93-DT, LOC112449714, CNEP1R1, SNORA50A, GNAO1-DT, VPS35, C16orf78, SNORA46, LINC02911, COQ9, LOC102723373, ADGRG5, LINC01571, TRL-CAG2-2, FTO-IT1, LONP2, LOC110120585, MT1X, LOC110120823, SHCBP1, ABCC12, TENT4B, SIAH1, ABCC11, LINC02168, ADGRG1, LINC02137, MIR6772, LOC110121339, GPT2, ADGRG3, LOC110120578, RBL2, C16orf87, HEATR3, DOK4, PLLP, LOC112469009, CNOT1, LOC112469014, CFAP20, LOC110120574, CSNK2A2, LOC110120839, SNORD148, LOC110120587, LOC112469012, CCL17, AKTIP, CRNDE, LOC113939952, LOC112469011, AMFR, MIR6771, LOC388282, ITFG1, USB1, CAPNS2, MMP2-AS1, LOC110120837, CPNE2, LOC112449713, MT2A, LOC110120584, LOC112469013, FTO, MIR138-2, ZNF319, IRX3, LINC02133, LOC112469003, PSME3IP1, CYLD-AS1, LOC110121356, DNAJA2, MIR3935, CX3CL1, MMP2, LINC02192, PRSS54, DRC7, MT3, MT1E, LOC112449716, ARL2BP, LINC02128, MT1A, CYLD, NOD2, CCDC102A, LOC112449709, LOC110120840, LOC110120939, LOC110120826, LOC113939953, LINC02141, BBS2, LOC113939954, LOC110120841, SLC38A7, SLC12A3, RPGRIP1L, ZNF423, NUP93, LINC02179, CCDC113, MT4, CES1, SETD6, LOC110120583, LOC110120575, LOC110120580, CBLN1, HNRNPA1L3, LOC110120588, LOC110120838, MIR3181, MT1M, TRL-CAG2-1, GINS3, LOC101927480, MT1H, MT1G, NLRC5, N4BP1, POLR2C, IRX6, MIR6863, LOC110120582, CNGB1, NDRG4, LINC00919, LINC02127, LINC02180, KATNB1, LOC112469010, CIAPIN1, NETO2, IRX5, LOC112469008, CASC22, LOC110120576, NUDT21, MYLK3, LOC112469004, LOC110120581, CETP, MT1B, LINC02178, LOC101927272, LOC105371267, LOC110120577, SALL1, LOC110120586, TEPP, LINC02169, MMP15, SLC6A2, OGFOD1, MT1F, LOC112469005, BRD7, LOC110120912, GNAO1, SNX20, CES5A, ITFG1-AS1, TOX3, LOC112449712, RSPRY1, GNAO1-AS1, LOC110120835, ORC6, LOC112469006, LPCAT2, HERPUD1, LOC110120836, ADCY7, KIFC3, PHKB, LINC02140, CCL22, LOC112449717, LOC110120579
not providedPathogenic
(Jul 17, 2020)
criteria provided, single submitterVCV001184380
2.
GRCh37:
Chr16:49719432-68435615
GRCh38:
Chr16:49685521-68401712
ACD, ADCY7, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ARL2BP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BBS2, BEAN1, BEAN1-AS1, BRD7, C16orf86, CA7, CAPNS2, CARMIL2, CASC16, CASC22, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH11, CDH16, CDH5, CDH8, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CHD9, CIAO2B, CIAPIN1, CKLF, CKLF-CMTM1, CMTM1, CMTM2, CMTM3, CMTM4, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRL, CX3CL1, CYLD, CYLD-AS1, DDX28, DOK4, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, FBXL8, FHOD1, FRA16B, FTO, FTO-IT1, GFOD2, GINS3, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, HEATR3, HERPUD1, HNRNPA1L3, HSD11B2, HSF4, IRX3, IRX5, IRX6, KATNB1, KCTD19, KIAA0895L, KIFC3, LCAT, LINC00919, LINC00920, LINC00922, LINC01571, LINC02126, LINC02127, LINC02128, LINC02137, LINC02140, LINC02141, LINC02168, LINC02169, LINC02178, LINC02180, LINC02911, LOC100505942, LOC101927272, LOC101927480, LOC102723373, LOC105371267, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC110121356, LOC110121443, LOC112449715, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC113939954, LOC388282, LPCAT2, LRRC29, LRRC36, MIR138-2, MIR3181, MIR328, MIR3935, MIR6771, MIR6772, MIR6773, MIR6863, MMP15, MMP2, MMP2-AS1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NAE1, NDRG4, NFATC3, NKD1, NLRC5, NOD2, NOL3, NRN1L, NUDT21, NUP93, NUP93-DT, NUTF2, OGFOD1, PARD6A, PDP2, PHAF1, PLA2G15, PLEKHG4, PLLP, POLR2C, PRMT7, PRSS54, PSKH1, PSMB10, PSME3IP1, RANBP10, RBL2, RIPOR1, RPGRIP1L, RRAD, RSPRY1, SALL1, SETD6, SLC12A3, SLC12A4, SLC38A7, SLC6A2, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNX20, TENT4B, TEPP, TERB1, THAP11, TK2, TMEM208, TOX3, TPPP3, TRADD, TRL-CAG2-1, TRL-CAG2-2, TSNAXIP1, USB1, ZDHHC1, ZNF319, ZNF423
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000155685
3.
GRCh37:
Chr16:52933095-90155062
GRCh38:
Chr16:52899183-90088654
AARS1, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ANKRD11, AP1G1, APRT, ARL2BP, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BANP, BBS2, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CAPNS2, CARMIL2, CBFA2T3, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CFDP1, CHD9, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIAPIN1, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ9, COTL1, COX4I1, CPHXL, CPNE2, CPNE7, CRISPLD2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DOK4, DPEP1, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, FRA16B, FTO, FTO-IT1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GINS3, GLG1, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, GSE1, HAS3, HCCAT5, HERPUD1, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IRX3, IRX5, IRX6, IST1, JPH3, KARS1, KATNB1, KCNG4, KCTD19, KIAA0513, KIAA0895L, KIFC3, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01568, LINC01572, LINC02125, LINC02126, LINC02131, LINC02135, LINC02136, LINC02137, LINC02138, LINC02139, LINC02140, LINC02141, LINC02166, LINC02169, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100289580, LOC100505942, LOC100506281, LOC101927480, LOC101927793, LOC101927817, LOC101927978, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102723373, LOC102724163, LOC102724467, LOC105371267, LOC105371328, LOC105371335, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120824, LOC110120835, LOC110120837, LOC110120838, LOC110120839, LOC110121356, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112268164, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC339059, LOC388282, LOC400541, LOC400553, LOC654780, LPCAT2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MBTPS1, MC1R, MEAK7, MIR11401, MIR12128, MIR138-2, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR3935, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6772, MIR6773, MIR6774, MIR6775, MIR6863, MIR7854, MIR8058, MLKL, MLYCD, MMP15, MMP2, MMP2-AS1, MON1B, MPHOSPH6, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTSS2, MVD, NAE1, NDRG4, NECAB2, NFAT5, NFATC3, NIP7, NLRC5, NOB1, NOL3, NPIPB15, NQO1, NRN1L, NUDT21, NUDT7, NUP93, NUP93-DT, NUTF2, OGFOD1, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PLLP, PMFBP1, POLR2C, PRDM7, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, PSMD7-DT, PSME3IP1, RANBP10, RBL2, RFWD3, RIPOR1, RNF166, RPGRIP1L, RPL13, RRAD, RSPRY1, SDR42E1, SETD6, SF3B3, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA46, SNORA50A, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TEPP, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRL-CAG2-1, TRL-CAG2-2, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USB1, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF319, ZNF469, ZNF778, ZNF821, ZNRF1
See casesPathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000155358
4.
GRCh37:
Chr16:55491389-63875526
GRCh38:
Chr16:55457477-63841622
See casesPathogenic
(Jun 25, 2013)
no assertion criteria providedVCV000144256
5.
GRCh37:
Chr16:56518357
GRCh38:
Chr16:56484445
BBS2Bardet-Biedl syndrome 2Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000319846
6.
GRCh37:
Chr16:56518582
GRCh38:
Chr16:56484670
BBS2Bardet-Biedl syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000319847
7.
GRCh37:
Chr16:56518639
GRCh38:
Chr16:56484727
BBS2Bardet-Biedl syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887177
8.
GRCh37:
Chr16:56518660
GRCh38:
Chr16:56484748
BBS2not specified, Bardet-Biedl syndrome 2, not provided
Benign/Likely benign
(May 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000261976
9.
GRCh37:
Chr16:56518673
GRCh38:
Chr16:56484761
BBS2Bardet-Biedl syndrome 2Uncertain significance
(Sep 5, 2017)
criteria provided, single submitterVCV000553716
10.
GRCh37:
Chr16:56518679
GRCh38:
Chr16:56484767
BBS2Bardet-Biedl syndromeLikely benign
(Sep 20, 2020)
criteria provided, single submitterVCV001106542
11.
GRCh37:
Chr16:56518682
GRCh38:
Chr16:56484770
BBS2Bardet-Biedl syndromeLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV001124414
12.
GRCh37:
Chr16:56518695
GRCh38:
Chr16:56484783
BBS2R715QRetinitis pigmentosa 74, Bardet-Biedl syndrome 2Uncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195901
13.
GRCh37:
Chr16:56518696
GRCh38:
Chr16:56484784
BBS2R715*Bardet-Biedl syndrome 2Uncertain significance
(Sep 26, 2017)
criteria provided, single submitterVCV000554117
14.
GRCh37:
Chr16:56518710
GRCh38:
Chr16:56484798
BBS2L710PBardet-Biedl syndromeUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV000998613
15.
GRCh37:
Chr16:56518711
GRCh38:
Chr16:56484799
BBS2Bardet-Biedl syndromeLikely benign
(Jun 22, 2020)
criteria provided, single submitterVCV001159793
16.
GRCh37:
Chr16:56518732
GRCh38:
Chr16:56484820
BBS2R703*Inborn genetic diseases, Retinitis pigmentosa 74, Bardet-Biedl syndrome,
Bardet-Biedl syndrome 2
Pathogenic/Likely pathogenic
(Apr 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000496478
17.
GRCh37:
Chr16:56518733
GRCh38:
Chr16:56484821
BBS2Bardet-Biedl syndromeLikely benign
(May 3, 2019)
criteria provided, single submitterVCV001093149
18.
GRCh37:
Chr16:56518751
GRCh38:
Chr16:56484839
BBS2Bardet-Biedl syndrome 2, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Sep 7, 2020)
criteria provided, conflicting interpretationsVCV000319848
19.
GRCh37:
Chr16:56518755
GRCh38:
Chr16:56484843
BBS2I695TBardet-Biedl syndromeUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV000963151
20.
GRCh37:
Chr16:56518760
GRCh38:
Chr16:56484848
BBS2Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000319849
21.
GRCh37:
Chr16:56518780
GRCh38:
Chr16:56484868
BBS2Bardet-Biedl syndrome 2, Retinal dystrophyLikely pathogenic
(Jan 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000555474
22.
GRCh37:
Chr16:56518783
GRCh38:
Chr16:56484871
BBS2Bardet-Biedl syndromeLikely benign
(Dec 11, 2019)
criteria provided, single submitterVCV001097152
23.
GRCh37:
Chr16:56518784
GRCh38:
Chr16:56484872
BBS2Bardet-Biedl syndromeLikely benign
(Nov 27, 2020)
criteria provided, single submitterVCV001126541
24.
GRCh37:
Chr16:56518784-56518787
GRCh38:
Chr16:56484872-56484875
BBS2Bardet-Biedl syndromeLikely benign
(Feb 19, 2020)
criteria provided, single submitterVCV001103827
25.
GRCh37:
Chr16:56518786-56518788
GRCh38:
Chr16:56484874-56484876
BBS2Bardet-Biedl syndromeLikely benign
(Mar 30, 2019)
criteria provided, single submitterVCV001096578
26.
GRCh37:
Chr16:56518787
GRCh38:
Chr16:56484875
BBS2Bardet-Biedl syndromeLikely benign
(Jan 6, 2020)
criteria provided, single submitterVCV001100052
27.
GRCh37:
Chr16:56518788
GRCh38:
Chr16:56484876
BBS2Bardet-Biedl syndromeLikely benign
(Nov 23, 2019)
criteria provided, single submitterVCV001090547
28.
GRCh37:
Chr16:56518789
GRCh38:
Chr16:56484877
BBS2Bardet-Biedl syndromeLikely benign
(Mar 1, 2020)
criteria provided, single submitterVCV001135234
29.
GRCh37:
Chr16:56519097
GRCh38:
Chr16:56485185
BBS2not providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001263476
30.
GRCh37:
Chr16:56519423
GRCh38:
Chr16:56485511
BBS2not providedBenign
(May 10, 2021)
criteria provided, single submitterVCV001279873
31.
GRCh37:
Chr16:56519489-56519490
GRCh38:
Chr16:56485577-56485578
BBS2Bardet-Biedl syndromeLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001128119
32.
GRCh37:
Chr16:56519495
GRCh38:
Chr16:56485583
BBS2Bardet-Biedl syndromeLikely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001100696
33.
GRCh37:
Chr16:56519501
GRCh38:
Chr16:56485589
BBS2Bardet-Biedl syndromePathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001073654
34.
GRCh37:
Chr16:56519502-56519503
GRCh38:
Chr16:56485590-56485591
BBS2V687fsBardet-Biedl syndrome 2Uncertain significance
(May 12, 2017)
criteria provided, single submitterVCV000551970
35.
GRCh37:
Chr16:56519505
GRCh38:
Chr16:56485593
BBS2R686WBardet-Biedl syndromeUncertain significance
(Sep 7, 2019)
criteria provided, single submitterVCV000956721
36.
GRCh37:
Chr16:56519515
GRCh38:
Chr16:56485603
BBS2Bardet-Biedl syndromeLikely benign
(Jun 13, 2019)
criteria provided, single submitterVCV001121467
37.
GRCh37:
Chr16:56519523
GRCh38:
Chr16:56485611
BBS2Q680*Bardet-Biedl syndrome 2Likely pathogenic
(May 30, 2018)
criteria provided, single submitterVCV000558537
38.
GRCh37:
Chr16:56519533
GRCh38:
Chr16:56485621
BBS2Bardet-Biedl syndromeLikely benign
(May 20, 2020)
criteria provided, single submitterVCV001157798
39.
GRCh37:
Chr16:56519545
GRCh38:
Chr16:56485633
BBS2Bardet-Biedl syndromeLikely benign
(Sep 11, 2020)
criteria provided, single submitterVCV001104121
40.
GRCh37:
Chr16:56519548
GRCh38:
Chr16:56485636
BBS2N671KBardet-Biedl syndromeUncertain significance
(Feb 22, 2020)
criteria provided, single submitterVCV001047197
41.
GRCh37:
Chr16:56519562
GRCh38:
Chr16:56485650
BBS2E667QBardet-Biedl syndromeUncertain significance
(Nov 6, 2019)
criteria provided, single submitterVCV000951358
42.
GRCh37:
Chr16:56519572
GRCh38:
Chr16:56485660
BBS2Bardet-Biedl syndromeLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV001145016
43.
GRCh37:
Chr16:56519574-56519575
GRCh38:
Chr16:56485662-56485663
BBS2N663*Bardet-Biedl syndromePathogenic
(Jul 15, 2019)
criteria provided, single submitterVCV000943913
44.
GRCh37:
Chr16:56519579
GRCh38:
Chr16:56485667
BBS2R661HBardet-Biedl syndrome 2, Bardet-Biedl syndromeUncertain significance
(Oct 24, 2019)
criteria provided, single submitterVCV000839337
45.
GRCh37:
Chr16:56519588
GRCh38:
Chr16:56485676
BBS2Y658CBardet-Biedl syndrome 2, Retinitis pigmentosa 74Uncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195902
46.
GRCh37:
Chr16:56519592
GRCh38:
Chr16:56485680
BBS2G657*Bardet-Biedl syndrome 2Likely pathogenic
(Oct 24, 2017)
criteria provided, single submitterVCV000554529
47.
GRCh37:
Chr16:56519608
GRCh38:
Chr16:56485696
BBS2Bardet-Biedl syndrome, not providedUncertain significance
(Nov 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000285607
48.
GRCh37:
Chr16:56519609-56519615
GRCh38:
Chr16:56485697-56485703
BBS2D649fsBardet-Biedl syndrome 2Likely pathogenic
(Oct 25, 2017)
criteria provided, single submitterVCV000554565
49.
GRCh37:
Chr16:56519611
GRCh38:
Chr16:56485699
BBS2Bardet-Biedl syndromeLikely benign
(Oct 8, 2020)
criteria provided, single submitterVCV001110982
50.
GRCh37:
Chr16:56519617
GRCh38:
Chr16:56485705
BBS2Bardet-Biedl syndromeLikely benign
(Dec 30, 2019)
criteria provided, single submitterVCV001081173
51.
GRCh37:
Chr16:56519627
GRCh38:
Chr16:56485715
BBS2M645TBardet-Biedl syndrome, Bardet-Biedl syndrome 2Uncertain significance
(Feb 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000888429
52.
GRCh37:
Chr16:56519629
GRCh38:
Chr16:56485717
BBS2Bardet-Biedl syndromeLikely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001085429
53.
GRCh37:
Chr16:56519629-56519630
GRCh38:
Chr16:56485717-56485718
BBS2Y644*not provided, Bardet-Biedl syndromePathogenic
(Sep 30, 2019)
criteria provided, single submitterVCV000969600
54.
GRCh37:
Chr16:56519633
GRCh38:
Chr16:56485721
BBS2R643HBardet-Biedl syndrome 2Uncertain significance
(May 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000553014
55.
GRCh37:
Chr16:56519634
GRCh38:
Chr16:56485722
BBS2R643CBardet-Biedl syndromeUncertain significance
(Sep 18, 2020)
criteria provided, single submitterVCV000858439
56.
GRCh37:
Chr16:56519651
GRCh38:
Chr16:56485739
BBS2Bardet-Biedl syndrome 2Likely pathogenic
(Mar 19, 2018)
criteria provided, single submitterVCV000557254
57.
GRCh37:
Chr16:56519651-56539861
GRCh38:
Chr16:56485739-56505949
BBS2Bardet-Biedl syndromePathogenicno assertion criteria providedVCV000266085
58.
GRCh37:
Chr16:56519660
GRCh38:
Chr16:56485748
BBS2Bardet-Biedl syndromeLikely benign
(Jul 29, 2020)
criteria provided, single submitterVCV001155437
59.
GRCh37:
Chr16:56529926-56538197
GRCh38:
Chr16:56496014-56504285
BBS2Bardet-Biedl syndromeLikely pathogenic
(Jul 20, 2016)
no assertion criteria providedVCV000431738
60.
GRCh37:
Chr16:56530750
GRCh38:
Chr16:56496838
BBS2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001236537
61.
GRCh37:
Chr16:56530870
GRCh38:
Chr16:56496958
BBS2Bardet-Biedl syndrome 2Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000319850
62.
GRCh37:
Chr16:56530879-56530880
GRCh38:
Chr16:56496967-56496968
BBS2M637fsRetinal dystrophy, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
Pathogenic/Likely pathogenic
(Jan 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000552850
63.
GRCh37:
Chr16:56530880
GRCh38:
Chr16:56496968
BBS2M637LBardet-Biedl syndromeUncertain significance
(Mar 25, 2020)
criteria provided, single submitterVCV001019357
64.
GRCh37:
Chr16:56530887
GRCh38:
Chr16:56496975
BBS2M634IBardet-Biedl syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000319851
65.
GRCh37:
Chr16:56530894
GRCh38:
Chr16:56496982
BBS2R632HBardet-Biedl syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888430
66.
GRCh37:
Chr16:56530894
GRCh38:
Chr16:56496982
BBS2R632PRetinitis pigmentosa, Bardet-Biedl syndrome, not provided,
BBS2-Related Disorders, Retinal dystrophy, Retinitis pigmentosa 74,
Bardet-Biedl syndrome 2
Pathogenic
(Apr 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000004578
67.
GRCh37:
Chr16:56530895
GRCh38:
Chr16:56496983
BBS2R632CBardet-Biedl syndrome, Bardet-Biedl syndrome 2Uncertain significance
(Dec 23, 2019)
criteria provided, multiple submitters, no conflictsVCV000319852
68.
GRCh37:
Chr16:56530898
GRCh38:
Chr16:56496986
BBS2A631TBardet-Biedl syndrome 2Uncertain significance
(Mar 15, 2017)
criteria provided, single submitterVCV000550939
69.
GRCh37:
Chr16:56530899
GRCh38:
Chr16:56496987
BBS2not provided, Bardet-Biedl syndrome 2Likely benign
(Dec 5, 2018)
criteria provided, single submitterVCV000798516
70.
GRCh37:
Chr16:56530904
GRCh38:
Chr16:56496992
BBS2E629KBardet-Biedl syndrome, Bardet-Biedl syndrome 2Uncertain significance
(Dec 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000550587
71.
GRCh37:
Chr16:56530910
GRCh38:
Chr16:56496998
BBS2G627RBardet-Biedl syndromeUncertain significance
(Oct 2, 2020)
criteria provided, single submitterVCV001015292
72.
GRCh37:
Chr16:56530911
GRCh38:
Chr16:56496999
BBS2Bardet-Biedl syndromeLikely benign
(Nov 1, 2020)
criteria provided, single submitterVCV001131757
73.
GRCh37:
Chr16:56530916
GRCh38:
Chr16:56497004
BBS2Bardet-Biedl syndromeLikely benign
(Sep 12, 2019)
criteria provided, single submitterVCV001103470
74.
GRCh37:
Chr16:56530925
GRCh38:
Chr16:56497013
BBS2R622*Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, not provided
Pathogenic/Likely pathogenic
(Jul 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000284737
75.
GRCh37:
Chr16:56530937
GRCh38:
Chr16:56497025
BBS2S618ABardet-Biedl syndromeUncertain significance
(Aug 19, 2020)
criteria provided, single submitterVCV000938378
76.
GRCh37:
Chr16:56530938
GRCh38:
Chr16:56497026
BBS2Bardet-Biedl syndromeLikely benign
(Sep 24, 2020)
criteria provided, single submitterVCV001144603
77.
GRCh37:
Chr16:56530945-56530946
GRCh38:
Chr16:56497033-56497034
BBS2A615fsBardet-Biedl syndromePathogenic
(Aug 7, 2020)
criteria provided, single submitterVCV000838085
78.
GRCh37:
Chr16:56530971
GRCh38:
Chr16:56497059
BBS2Bardet-Biedl syndromeLikely benign
(Aug 24, 2020)
criteria provided, single submitterVCV001112408
79.
GRCh37:
Chr16:56530973
GRCh38:
Chr16:56497061
BBS2V606LBardet-Biedl syndromeUncertain significance
(Mar 20, 2020)
criteria provided, single submitterVCV001058420
80.
GRCh37:
Chr16:56530975
GRCh38:
Chr16:56497063
BBS2S605*Bardet-Biedl syndrome 2, Bardet-Biedl syndromePathogenic/Likely pathogenic
(Oct 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000553335
81.
GRCh37:
Chr16:56530980-56530981
GRCh38:
Chr16:56497068-56497069
BBS2Y603fsBardet-Biedl syndromePathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV000945900
82.
GRCh37:
Chr16:56530981
GRCh38:
Chr16:56497069
BBS2Y603CBardet-Biedl syndromeUncertain significance
(Sep 4, 2019)
criteria provided, single submitterVCV000965647
83.
GRCh37:
Chr16:56530983
GRCh38:
Chr16:56497071
BBS2Bardet-Biedl syndrome, not providedLikely benign
(Dec 22, 2018)
criteria provided, single submitterVCV000700784
84.
GRCh37:
Chr16:56530999
GRCh38:
Chr16:56497087
BBS2not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794121
85.
GRCh37:
Chr16:56531001
GRCh38:
Chr16:56497089
BBS2Bardet-Biedl syndromeLikely benign
(Jul 28, 2020)
criteria provided, single submitterVCV001125517
86.
GRCh37:
Chr16:56531185
GRCh38:
Chr16:56497273
BBS2not providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001240990
87.
GRCh37:
Chr16:56531643
GRCh38:
Chr16:56497731
BBS2Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Conflicting interpretations of pathogenicity
(Aug 20, 2020)
criteria provided, conflicting interpretationsVCV000319853
88.
GRCh37:
Chr16:56531648
GRCh38:
Chr16:56497736
BBS2Bardet-Biedl syndromeLikely benign
(Nov 12, 2020)
criteria provided, single submitterVCV001105411
89.
GRCh37:
Chr16:56531654
GRCh38:
Chr16:56497742
BBS2Bardet-Biedl syndrome 2Likely pathogenic
(Feb 28, 2017)
criteria provided, single submitterVCV000550906
90.
GRCh37:
Chr16:56531655
GRCh38:
Chr16:56497743
BBS2Bardet-Biedl syndromeLikely pathogenic
(Sep 9, 2020)
criteria provided, single submitterVCV000971675
91.
GRCh37:
Chr16:56531672
GRCh38:
Chr16:56497760
BBS2R594*Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Pathogenic/Likely pathogenic
(Oct 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000550489
92.
GRCh37:
Chr16:56531674
GRCh38:
Chr16:56497762
BBS2L593*Bardet-Biedl syndrome 2Likely pathogenic
(Mar 26, 2019)
no assertion criteria providedVCV000984001
93.
GRCh37:
Chr16:56531675
GRCh38:
Chr16:56497763
BBS2not provided, Bardet-Biedl syndromeLikely benign
(Dec 4, 2018)
criteria provided, single submitterVCV000751393
94.
GRCh37:
Chr16:56531682
GRCh38:
Chr16:56497770
BBS2F590fsBardet-Biedl syndrome 2, Bardet-Biedl syndromePathogenic/Likely pathogenic
(Nov 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000035755
95.
GRCh37:
Chr16:56531693
GRCh38:
Chr16:56497781
BBS2P587SBardet-Biedl syndromeUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000837285
96.
GRCh37:
Chr16:56531724
GRCh38:
Chr16:56497812
BBS2Bardet-Biedl syndromeLikely benign
(May 7, 2020)
criteria provided, single submitterVCV001115464
97.
GRCh37:
Chr16:56531727
GRCh38:
Chr16:56497815
BBS2F575fsBardet-Biedl syndrome 2Likely pathogenic
(Jul 22, 2021)
criteria provided, single submitterVCV001210364
98.
GRCh37:
Chr16:56531747
GRCh38:
Chr16:56497835
BBS2Q569*Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Pathogenic
(Apr 24, 2019)
criteria provided, multiple submitters, no conflictsVCV000551008
99.
GRCh37:
Chr16:56531755
GRCh38:
Chr16:56497843
BBS2D566GBardet-Biedl syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888431
100.
GRCh37:
Chr16:56531762
GRCh38:
Chr16:56497850
BBS2A564TBardet-Biedl syndromeUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000963375
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