A total 274 pathogenic variants reported in gene Bardet-Biedl syndrome 1 (BBS1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) SNV
Germline
Chr11:66526181 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
See cases
BBS1-related disorder
Inborn genetic diseases
Severe early-childhood-onset retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA223760 rs_113624356

54 SubmittersRCV000012926RCV000082202RCV000174408RCV000210319RCV000504693RCV000787785RCV002251900RCV003390672RCV002513000RCV005621849

NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) SNV
Germline
Chr11:66531692 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256226 rs_121917777

11 SubmittersRCV000012927RCV000169202RCV001008645RCV001723562RCV002513001RCV003934827

NM_024649.5(BBS1):c.432+1G>A SNV
Germline
Chr11:66514679 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256228 rs_587777829

8 SubmittersRCV000012928RCV000169013RCV002225262RCV004742225

NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) SNV
Germline
Chr11:66530973 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA256230 rs_121917778

9 SubmittersRCV000012930RCV001055313RCV001075155RCV001753415

NM_024649.5(BBS1):c.1340-2A>G SNV
Germline
Chr11:66529817 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA342396 rs_113994180

3 SubmittersRCV000020904RCV003989297

NM_024649.5(BBS1):c.831-3C>G SNV
Germline
Chr11:66523453 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA342397 rs_113994179

4 SubmittersRCV000020905RCV000995705

NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) SNV
Germline
Chr11:66519695 Conflicting classifications of pathogenicity Retinal dystrophy
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA260179 rs_193922709

9 SubmittersRCV001074387RCV001228905RCV001725934RCV001835636

NM_024649.5(BBS1):c.1474-8C>T SNV
Germline
Chr11:66530886 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA223761 rs_398124402

4 SubmittersRCV000082203RCV001085650RCV002467564RCV005406812

NM_024649.5(BBS1):c.831-5C>T SNV
Germline
Chr11:66523451 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA149269 rs_56177555

10 SubmittersRCV000082205RCV000861255RCV001104146RCV001573960RCV002513848

NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) SNV
Germline
Chr11:66515543 Pathogenic Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
Retinal dystrophy
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA273912 rs_786204444

10 SubmittersRCV000169066RCV000627244RCV001272374RCV004815258RCV003398862

NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) SNV
Germline
Chr11:66526753 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA274213 rs_768443448

14 SubmittersRCV000169362RCV001092071RCV000984149RCV004742303

NM_024649.5(BBS1):c.24T>C (p.Asp8=) SNV
Germline
Chr11:66510683 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200595 rs_55848325

13 SubmittersRCV000173529RCV000709651RCV000226235RCV003891704RCV003407641

NM_024649.5(BBS1):c.48-3C>G SNV
Germline
Chr11:66511010 Pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided
CA351676 rs_869025204

1 SubmittersRCV000207828

NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) SNV
Germline
Chr11:66523784 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA351665 rs_869025205

2 SubmittersRCV000207577RCV001225677

NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) SNV
Germline
Chr11:66514662 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA10582948 rs_878855095

4 SubmittersRCV000230074RCV000778336RCV004742345

NM_024649.5(BBS1):c.1626A>G (p.Pro542=) SNV
Germline
Chr11:66531673 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123842 rs_780444865

3 SubmittersRCV000252168RCV001455481

NM_024649.5(BBS1):c.1338C>T (p.Thr446=) SNV
Germline
Chr11:66526806 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123698 rs_368302072

5 SubmittersRCV000392499RCV001104457RCV001084455RCV003947896

NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) SNV
Germline
Chr11:66531015 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Inborn genetic diseases
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123822 rs_142648652

8 SubmittersRCV000387351RCV001107215RCV002521944RCV004021188RCV003409412

NM_024649.5(BBS1):c.48-9C>A SNV
Germline
Chr11:66511004 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123218 rs_765571574

3 SubmittersRCV000360947RCV001491811RCV003957524

NM_024649.5(BBS1):c.432+13C>T SNV
Germline
Chr11:66514691 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123326 rs_759287238

3 SubmittersRCV000709656RCV002056217

NM_024649.5(BBS1):c.447C>T (p.Pro149=) SNV
Germline
Chr11:66515554 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123348 rs_763738657

4 SubmittersRCV000372823RCV001435806RCV003888719RCV004742378

NM_024649.5(BBS1):c.6C>T (p.Ala2=) SNV
Germline
Chr11:66510665 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123176 rs_143592479

4 SubmittersRCV000360531RCV001093962RCV003950027

NM_024649.5(BBS1):c.981C>T (p.Pro327=) SNV
Germline
Chr11:66523753 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA6123583 rs_142243482

4 SubmittersRCV000287545RCV001820904RCV001093955

NM_024649.5(BBS1):c.1110+15C>T SNV
Germline
Chr11:66523897 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123614 rs_371084544

3 SubmittersRCV000780954RCV000403380RCV002056218

NM_024649.5(BBS1):c.1194C>A (p.Ile398=) SNV
Germline
Chr11:66526662 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6123670 rs_200577824

4 SubmittersRCV000299774RCV001093965RCV003888720

NM_024649.5(BBS1):c.636C>T (p.Asp212=) SNV
Germline
Chr11:66519661 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123435 rs_775900681

2 SubmittersRCV000275971RCV001456320

NM_024649.5(BBS1):c.830+12C>T SNV
Germline
Chr11:66521388 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123510 rs_781283997

2 SubmittersRCV000345901RCV001497924

NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) SNV
Germline
Chr11:66531999 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123882 rs_111358560

5 SubmittersRCV000387176RCV001094040RCV003409471

NM_024649.5(BBS1):c.48-2A>C SNV
Germline
Chr11:66511011 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA6123222 rs_764245266

5 SubmittersRCV000409451RCV001377426

NM_024649.5(BBS1):c.124+1G>C SNV
Germline
Chr11:66511090 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16041518 rs_1057516449

3 SubmittersRCV000411354RCV003522961

NM_024649.5(BBS1):c.159+2T>A SNV
Unknown
Chr11:66511241 Likely pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided
CA16041519 rs_1057516507

1 SubmittersRCV000410043

NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) SNV
Germline
Chr11:66515586 Pathogenic Retinitis pigmentosa
Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6123351 rs_376894444

17 SubmittersRCV000504813RCV000411434RCV001092069RCV001387773RCV001074216RCV003922662

NM_024649.5(BBS1):c.480-1G>C SNV
Unknown
Chr11:66515692 Pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA16041522 rs_1057516933

2 SubmittersRCV000409654

NM_024649.5(BBS1):c.519-2A>G SNV
Unknown
Chr11:66515859 Likely pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided
CA16041523 rs_1057516502

1 SubmittersRCV000411894

NM_024649.5(BBS1):c.831-2A>G SNV
Germline
Chr11:66523454 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16041525 rs_1057517332

5 SubmittersRCV000410589RCV000709658RCV001532648

NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) SNV
Germline
Chr11:66523480 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA16041526 rs_1057516427

2 SubmittersRCV000411176RCV002523851

NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) SNV
Germline
Chr11:66523496 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA16041527 rs_1057517143

5 SubmittersRCV000410229RCV001239133RCV003409566

NM_024649.5(BBS1):c.951+1G>A SNV
Germline
Chr11:66523577 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6123554 rs_746875134

10 SubmittersRCV000410778RCV000735921RCV002248642RCV004816633

NM_024649.5(BBS1):c.952-1G>A SNV
Germline
Chr11:66523723 Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16041528 rs_1057516661

5 SubmittersRCV000410767RCV001850947

NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) SNV
Germline
Chr11:66526159 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123638 rs_143495423

6 SubmittersRCV000442981RCV001274037RCV001309601RCV003392248

NM_024649.5(BBS1):c.616T>G (p.Leu206Val) SNV
Germline
Chr11:66519641 Conflicting classifications of pathogenicity not specified
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123433 rs_146052054

6 SubmittersRCV000455067RCV000726642RCV001081824RCV001107785RCV003902629

NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) SNV
Germline
Chr11:66526708 Pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Single Submitter
CA16613438 rs_1060503690

2 SubmittersRCV000466299RCV000984148

NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) SNV
Germline
Chr11:66521340 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16613498 rs_372939761

3 SubmittersRCV000464697RCV001809414RCV004787739

NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) SNV
Germline
Chr11:66515544 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Retinal dystrophy
Inborn genetic diseases
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123344 rs_759253107

5 SubmittersRCV000472989RCV001828486RCV003889901RCV002525625RCV004742430

NM_024649.5(BBS1):c.744C>T (p.Pro248=) SNV
Germline
Chr11:66521290 Conflicting classifications of pathogenicity not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA6123479 rs_528073027

3 SubmittersRCV000502549RCV000862610RCV001274035

NM_024649.5(BBS1):c.952-1G>C SNV
Germline
Chr11:66523723 Pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381461962 rs_1057516661

1 SubmittersRCV000503709

NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) SNV
Germline
Chr11:66526649 Conflicting classifications of pathogenicity not specified
Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123669 rs_141528309

7 SubmittersRCV000500220RCV000726690RCV001274039RCV001086879RCV003979884

NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) SNV
Germline
Chr11:66523724 Pathogenic/Likely pathogenic Condition: not provided
Bardet-Biedl syndrome 1
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA381461967 rs_1555048487

3 SubmittersRCV000513191RCV000674877RCV001199648

NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) SNV
Germline
Chr11:66526745 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases
Retinal dystrophy
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123687 rs_755782127

7 SubmittersRCV000551663RCV001834775RCV002528349RCV003889922RCV004742490

NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) SNV
Germline
Chr11:66531005 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA381425552 rs_1316472200

4 SubmittersRCV000547894RCV001834776RCV005520302

NM_024649.5(BBS1):c.41C>G (p.Ala14Gly) SNV
Germline
Chr11:66510700 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA381453346 rs_774110999

2 SubmittersRCV000585181RCV001199647

NM_024649.5(BBS1):c.1059A>G (p.Gly353=) SNV
Germline
Chr11:66523831 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123599 rs_199692416

2 SubmittersRCV000592292RCV001085017

NM_024649.5(BBS1):c.1743C>T (p.His581=) SNV
Germline
Chr11:66531998 Conflicting classifications of pathogenicity Condition: not provided
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123881 rs_61890368

3 SubmittersRCV000598276RCV001479055RCV003900344

NM_024649.5(BBS1):c.858C>T (p.Ile286=) SNV
Germline
Chr11:66523483 Conflicting classifications of pathogenicity Condition: not provided
BBS1-related disorder
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123536 rs_746775716

3 SubmittersRCV000593860RCV003935622RCV001455889

NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) SNV
Germline
Chr11:66526807 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Condition: not provided
Inborn genetic diseases
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA6123700 rs_200116631

7 SubmittersRCV000638357RCV003313119RCV001267196RCV002483815

NM_024649.5(BBS1):c.48-1G>T SNV
Germline
Chr11:66511012 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA381453466 rs_751753112

2 SubmittersRCV000666501RCV001861753

NM_024649.5(BBS1):c.124+1G>A SNV
Germline
Chr11:66511090 Pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381453909 rs_1057516449

2 SubmittersRCV000673570

NM_024649.5(BBS1):c.433-2A>G SNV
Unknown
Chr11:66515538 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381457281 rs_1555046748

2 SubmittersRCV000675034

NM_024649.5(BBS1):c.518+1G>A SNV
Unknown
Chr11:66515732 Likely pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided
CA6123388 rs_771517209

1 SubmittersRCV000667863

NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) SNV
Germline
Chr11:66519689 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA6123439 rs_761760689

3 SubmittersRCV000670649RCV001861797RCV001724126

NM_024649.5(BBS1):c.724-1G>C SNV
Germline
Chr11:66521269 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA6123471 rs_748523268

3 SubmittersRCV000667597RCV001377611

NM_024649.5(BBS1):c.1609-2A>T SNV
Unknown
Chr11:66531654 Likely pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided
CA381425789 rs_1555050394

1 SubmittersRCV000674900

NM_024649.5(BBS1):c.1695G>A (p.Lys565=) SNV
Unknown
Chr11:66531742 Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA475342328 rs_1555050427

2 SubmittersRCV000673043RCV003222093

NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) SNV
Germline
Chr11:66526786 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA224047703 rs_1014835928

5 SubmittersRCV000667051RCV001060606

NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) SNV
Germline
Chr11:66531972 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381426516 rs_1450045618

2 SubmittersRCV000674193

NM_024649.5(BBS1):c.47+2T>C SNV
Unknown
Chr11:66510708 Likely pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided
CA381453393 rs_1182864166

1 SubmittersRCV000668745

NM_024649.5(BBS1):c.1340-1G>T SNV
Germline
Chr11:66529818 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381423850 rs_1555049893

3 SubmittersRCV000669016RCV003523008

NM_024649.5(BBS1):c.1A>C (p.Met1Leu) SNV
Unknown
Chr11:66510660 Likely pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided
CA381453160 rs_1306821707

1 SubmittersRCV000671318

NM_024649.5(BBS1):c.1A>T (p.Met1Leu) SNV
Germline
Chr11:66510660 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA381453162 rs_1306821707

2 SubmittersRCV000669884RCV001855530

NM_024649.5(BBS1):c.479+2T>G SNV
Germline
Chr11:66515588 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381457393 rs_1353098253

5 SubmittersRCV000666424RCV001868212

NM_024649.5(BBS1):c.1110G>A (p.Pro370=) SNV
Germline
Chr11:66523882 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
BBS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6123610 rs_183771956

6 SubmittersRCV000668784RCV001377153RCV001756134RCV004723052

NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) SNV
Germline
Chr11:66529884 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA381423981 rs_1565289799

2 SubmittersRCV000678523RCV003633533

NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) SNV
Germline
Chr11:66526137 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381422148 rs_1565287512

2 SubmittersRCV000735916

NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) SNV
Germline
Chr11:66526189 Pathogenic Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381422342 rs_1160669210

3 SubmittersRCV000735917RCV001724144RCV003106027

NM_024649.5(BBS1):c.1473+4A>G SNV
Germline
Chr11:66529956 Pathogenic Bardet-Biedl syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA599866559 rs_1486200900

3 SubmittersRCV000735918RCV000787533

NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) SNV
Germline
Chr11:66531741 Pathogenic Bardet-Biedl syndrome No Assertion Criteria Provided
CA381426274 rs_1565291081

1 SubmittersRCV000735919

NM_024649.5(BBS1):c.1110+2T>G SNV
Germline
Chr11:66523884 Likely pathogenic Condition: not provided
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA381463104 rs_1565286223

2 SubmittersRCV000722672RCV001862123

NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) SNV
Germline
Chr11:66523872 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381462776 rs_1565286202

1 SubmittersRCV000761258

NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) SNV
Germline
Chr11:66510705 Likely pathogenic Bardet-Biedl syndrome
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6123193 rs_772917364

2 SubmittersRCV000782273RCV004817985

NM_024649.5(BBS1):c.1110+3G>C SNV
Germline
Chr11:66523885 Pathogenic Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 1
Criteria Provided
Single Submitter
CA224077259 rs_762276925

3 SubmittersRCV000787532RCV000787786RCV005606710

NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) SNV
Germline
Chr11:66515549 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123346 rs_200688985

14 SubmittersRCV000799690RCV001272375RCV002275136RCV003938167

NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) SNV
Germline
Chr11:66529926 Pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6123770 rs_745656125

8 SubmittersRCV000804705RCV001273360RCV003128709RCV002534792RCV004818039

NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) SNV
Germline
Chr11:66523465 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123532 rs_780169168

5 SubmittersRCV000860723RCV001356892RCV001835987RCV004742655

NM_024649.5(BBS1):c.243G>A (p.Pro81=) SNV
Germline
Chr11:66514489 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA6123295 rs_141429900

2 SubmittersRCV000864554RCV001107114

NM_024649.5(BBS1):c.1383A>G (p.Leu461=) SNV
Germline
Chr11:66529862 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123751 rs_557739576

2 SubmittersRCV001107213RCV001473644

NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) SNV
Germline
Chr11:66531681 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
BBS1-related ciliopathy
BBS1-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA6123843 rs_148948642

8 SubmittersRCV000866224RCV001107216RCV001772161RCV005367601RCV003938274RCV003889995

NM_024649.5(BBS1):c.1608+1G>A SNV
Germline
Chr11:66531029 Pathogenic/Likely pathogenic Retinitis pigmentosa
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381425686 rs_1856758582

3 SubmittersRCV001199431RCV002481807

NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) SNV
Germline
Chr11:66511033 Pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA6123228 rs_778850233

3 SubmittersRCV001045107RCV003461466

NM_024649.5(BBS1):c.235G>T (p.Glu79Ter) SNV
Germline
Chr11:66514481 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381456081 rs_138744839

1 SubmittersRCV001056484

NM_024649.5(BBS1):c.901G>A (p.Val301Ile) SNV
Germline
Chr11:66523526 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA224077094 rs_1037134217

4 SubmittersRCV001044568RCV001836081RCV005298678

NM_024649.5(BBS1):c.1111-2A>G SNV
Germline
Chr11:66526121 Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381422083 rs_761969357

4 SubmittersRCV001035665RCV001832373

NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter) SNV
Germline
Chr11:66531685 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA381425978 rs_1856787758

1 SubmittersRCV001073740

NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) SNV
Germline
Chr11:66531729 Likely pathogenic Retinal dystrophy
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381426214 rs_1856790811

2 SubmittersRCV001073857RCV003462629

NM_024649.5(BBS1):c.1473+2T>C SNV
Germline
Chr11:66529954 Pathogenic/Likely pathogenic Retinal dystrophy
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381424183 rs_1856699646

2 SubmittersRCV001074148RCV003523058

NM_024649.5(BBS1):c.441C>T (p.Ile147=) SNV
Germline
Chr11:66515548 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123345 rs_544997496

4 SubmittersRCV001107116RCV001396142RCV003973074

NM_024649.5(BBS1):c.867C>T (p.Ser289=) SNV
Germline
Chr11:66523492 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123538 rs_776322401

3 SubmittersRCV001104147RCV001494875RCV004743292

NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) SNV
Germline
Chr11:66529850 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123748 rs_781014949

4 SubmittersRCV001104458RCV001505737RCV003918681

NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) SNV
Germline
Chr11:66514609 Pathogenic Bardet-Biedl syndrome 1
Condition: not provided
No Assertion Criteria Provided
CA381456889 rs_1856010874

3 SubmittersRCV001175185RCV001699516

NM_024649.5(BBS1):c.830+2T>C SNV
Germline
Chr11:66521378 Likely pathogenic Bardet-Biedl syndrome 1
BBS1-related disorder
No Assertion Criteria Provided
CA381459668 rs_1856209722

2 SubmittersRCV001175184RCV004726919

NM_024649.5(BBS1):c.951+58C>T SNV
Germline
Chr11:66523634 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA1139662036 rs_1856346961

5 SubmittersRCV001175186RCV002555443RCV003322856

NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) SNV
Germline
Chr11:66514463 Pathogenic Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381455944 rs_1012901050

3 SubmittersRCV001213374RCV002561812RCV003462716

NM_024649.5(BBS1):c.417G>A (p.Trp139Ter) SNV
Germline
Chr11:66514663 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381457173 rs_1856011993

1 SubmittersRCV001209548

NM_024649.5(BBS1):c.480-2A>C SNV
Germline
Chr11:66515691 Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381457395 rs_1856035426

2 SubmittersRCV001246287RCV005050312

NM_024649.5(BBS1):c.723+1G>C SNV
Germline
Chr11:66519749 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381459058 rs_1295318869

3 SubmittersRCV001242050RCV003462818

NM_024649.5(BBS1):c.71T>A (p.Leu24Ter) SNV
Unknown
Chr11:66511036 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381453606 rs_1855932058

1 SubmittersRCV001263833

NM_024649.5(BBS1):c.214A>T (p.Lys72Ter) SNV
Unknown
Chr11:66514460 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381455931 rs_1856007963

1 SubmittersRCV001263834

NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) SNV
Germline
Chr11:66514652 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381457126 rs_1856011738

3 SubmittersRCV001263835RCV005057180

NM_024649.5(BBS1):c.700G>T (p.Glu234Ter) SNV
Unknown
Chr11:66519725 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381458968 rs_35520756

1 SubmittersRCV001263836

NM_024649.5(BBS1):c.965G>A (p.Trp322Ter) SNV
Unknown
Chr11:66523737 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381462034 rs_1856354695

1 SubmittersRCV001264002

NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter) SNV
Unknown
Chr11:66523781 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381462265 rs_1856358703

1 SubmittersRCV001264003

NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter) SNV
Unknown
Chr11:66526155 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381422211 rs_1021331909

1 SubmittersRCV001264004

NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter) SNV
Unknown
Chr11:66526666 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381422454 rs_1421044140

1 SubmittersRCV001264005

NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) SNV
Germline
Chr11:66526673 Conflicting classifications of pathogenicity Retinal dystrophy
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123674 rs_767150997

3 SubmittersRCV001270354RCV001880202

NM_024649.5(BBS1):c.951+1G>T SNV
Unknown
Chr11:66523577 Pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA381461899 rs_746875134

2 SubmittersRCV001329988

NM_024649.5(BBS1):c.1181-9C>G SNV
Germline
Chr11:66526640 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA1979711666 rs_769820955

2 SubmittersRCV001340368RCV004570814

NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) SNV
Germline
Chr11:66514628 Pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381456987 rs_2134771570

3 SubmittersRCV001387771RCV003463020RCV004699361

NM_024649.5(BBS1):c.421C>T (p.Gln141Ter) SNV
Germline
Chr11:66514667 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381457203 rs_2134771631

1 SubmittersRCV001383137

NM_024649.5(BBS1):c.830G>A (p.Arg277Lys) SNV
Germline
Chr11:66521376 Pathogenic/Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381459651 rs_1856209517

2 SubmittersRCV001388588

NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter) SNV
Germline
Chr11:66526729 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381422701 rs_1856520165

2 SubmittersRCV001388071RCV005050371

NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter) SNV
Germline
Chr11:66531704 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381426103 rs_1856788934

1 SubmittersRCV001390868

NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) SNV
Germline
Chr11:66515931 Pathogenic Condition: not provided
Bardet-Biedl syndrome
Criteria Provided
Single Submitter
CA381457647 rs_777143614

3 SubmittersRCV001700570RCV003222339

NM_024649.5(BBS1):c.1473+2T>G SNV
Germline
Chr11:66529954 Likely pathogenic Retinitis pigmentosa Criteria Provided
Single Submitter
CA381424184 rs_1856699646

1 SubmittersRCV001724834

NM_024649.5(BBS1):c.48-1G>A SNV
Germline
Chr11:66511012 Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA6123223 rs_751753112

4 SubmittersRCV001730053RCV001882796RCV004815608

NM_024649.5(BBS1):c.47+1G>T SNV
Germline
Chr11:66510707 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381453388 rs_1475257145

3 SubmittersRCV001780997RCV003523108

NM_024649.5(BBS1):c.890G>A (p.Arg297Gln) SNV
Germline
Chr11:66523515 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA6123543 rs_372092113

3 SubmittersRCV001888311RCV003155436RCV005050436

NM_024649.5(BBS1):c.1695+1G>A SNV
Germline
Chr11:66531743 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381426282 rs_2134841394

1 SubmittersRCV001980127

NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) SNV
Germline
Chr11:66531963 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381426480 rs_1434577015

3 SubmittersRCV002029113RCV003138033

NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter) SNV
Germline
Chr11:66530936 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381425209 rs_2134836882

1 SubmittersRCV002035351

NM_024649.5(BBS1):c.1474-1G>A SNV
Germline
Chr11:66530893 Likely pathogenic Bardet-Biedl syndrome
BBS1-related disorder
Criteria Provided
Single Submitter
CA381424929 rs_2134836650

2 SubmittersRCV001985950RCV004729009

NM_024649.5(BBS1):c.1110+1G>C SNV
Germline
Chr11:66523883 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381463095 rs_2134797993

1 SubmittersRCV002036324

NM_024649.5(BBS1):c.1A>G (p.Met1Val) SNV
Germline
Chr11:66510660 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381453161 rs_1306821707

2 SubmittersRCV001953605RCV005050484

NM_024649.5(BBS1):c.1110+329C>T SNV
Germline
Chr11:66524211 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA224077368 rs_571170303

4 SubmittersRCV002271752RCV003464425

NM_024649.5(BBS1):c.966G>A (p.Trp322Ter) SNV
Unknown
Chr11:66523738 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381462042 rs_2495779138

1 SubmittersRCV002306786

NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter) SNV
Unknown
Chr11:66530918 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381425083 rs_1445972147

1 SubmittersRCV002308058

NM_024649.5(BBS1):c.1097T>A (p.Val366Asp) SNV
Germline
Chr11:66523869 Pathogenic/Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381462747 rs_2495780320

2 SubmittersRCV003062412

NM_024649.5(BBS1):c.526C>T (p.Gln176Ter) SNV
Germline
Chr11:66515868 Pathogenic Bardet-Biedl syndrome
BBS1-related disorder
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA381457507 rs_777765120

3 SubmittersRCV003080656RCV004744587RCV005419565

NM_024649.5(BBS1):c.1076G>A (p.Arg359His) SNV
Germline
Chr11:66523848 Conflicting classifications of pathogenicity Inborn genetic diseases
Bardet-Biedl syndrome
BBS1-related disorder
Bardet-Biedl syndrome 1
Criteria Provided
Conflicting Classifications
CA6123605 rs_147766972

4 SubmittersRCV003082997RCV003090542RCV003420345RCV005050735

NM_024649.5(BBS1):c.1339+1G>A SNV
Germline
Chr11:66526808 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381422966 rs_2495802280

1 SubmittersRCV002774857

NM_024649.5(BBS1):c.2T>C (p.Met1Thr) SNV
Germline
Chr11:66510661 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381453164 rs_1222159281

1 SubmittersRCV002770915

NM_024649.5(BBS1):c.160-1G>A SNV
Germline
Chr11:66514405 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381455480 rs_2495736089

1 SubmittersRCV002814454

NM_024649.5(BBS1):c.1110+2T>C SNV
Germline
Chr11:66523884 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381463102 rs_1565286223

1 SubmittersRCV002838247

NM_024649.5(BBS1):c.159+1G>A SNV
Germline
Chr11:66511240 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381454191 rs_2495728996

1 SubmittersRCV002853300

NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter) SNV
Germline
Chr11:66529880 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381423973 rs_2495830435

2 SubmittersRCV002881244RCV004584235

NM_024649.5(BBS1):c.951+2T>A SNV
Germline
Chr11:66523578 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381461901 rs_1590766771

1 SubmittersRCV002900622

NM_024649.5(BBS1):c.3G>A (p.Met1Ile) SNV
Germline
Chr11:66510662 Pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381453166 rs_1855918305

2 SubmittersRCV002923444RCV005050662

NM_024649.5(BBS1):c.1577C>T (p.Ala526Val) SNV
Germline
Chr11:66530997 Conflicting classifications of pathogenicity Bardet-Biedl syndrome
Inborn genetic diseases
BBS1-related disorder
Criteria Provided
Conflicting Classifications
CA6123816 rs_759763673

3 SubmittersRCV002975456RCV004068272RCV004744510

NM_024649.5(BBS1):c.1180+1G>T SNV
Germline
Chr11:66526193 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA6123648 rs_370132070

1 SubmittersRCV003026148

NM_024649.5(BBS1):c.723+2T>G SNV
Germline
Chr11:66519750 Pathogenic/Likely pathogenic Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381459064 rs_2495752994

2 SubmittersRCV003019265RCV003459699

NM_024649.5(BBS1):c.913G>A (p.Gly305Ser) SNV
Germline
Chr11:66523538 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA224077108 rs_942862410

2 SubmittersRCV003388220

NM_024649.5(BBS1):c.951+1G>C SNV
Germline
Chr11:66523577 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA6123553 rs_746875134

2 SubmittersRCV003338232RCV003633707

NM_024649.5(BBS1):c.830+1G>T SNV
Unknown
Chr11:66521377 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA6123507 rs_200335137

1 SubmittersRCV003465010

NM_024649.5(BBS1):c.723+1G>A SNV
Germline
Chr11:66519749 Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381459059 rs_1295318869

2 SubmittersRCV003465016RCV003523195

NM_024649.5(BBS1):c.591+1G>A SNV
Unknown
Chr11:66515934 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381457653 rs_2495741578

1 SubmittersRCV003465017

NM_024649.5(BBS1):c.723+2T>C SNV
Unknown
Chr11:66519750 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381459062 rs_2495752994

1 SubmittersRCV003465020

NM_024649.5(BBS1):c.951+2T>G SNV
Unknown
Chr11:66523578 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381461905 rs_1590766771

1 SubmittersRCV003465022

NM_024649.5(BBS1):c.47+2T>G SNV
Unknown
Chr11:66510708 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
CA381453395 rs_1182864166

1 SubmittersRCV003465024

NM_024649.5(BBS1):c.449T>A (p.Leu150Ter) SNV
Germline
Chr11:66515556 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381457317 rs_2495739867

1 SubmittersRCV003523992

NM_024649.5(BBS1):c.830+2T>A SNV
Germline
Chr11:66521378 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381459666 rs_1856209722

1 SubmittersRCV003523980

NM_024649.5(BBS1):c.863T>G (p.Leu288Arg) SNV
Germline
Chr11:66523488 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381461421 rs_2495776917

1 SubmittersRCV003525327

NM_024649.5(BBS1):c.48-2A>G SNV
Germline
Chr11:66511011 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381453457 rs_764245266

1 SubmittersRCV003523633

NM_024649.5(BBS1):c.1181-1G>C SNV
Germline
Chr11:66526648 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381422392 rs_2495800494

1 SubmittersRCV003524471

NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg) SNV
Germline
Chr11:66526137 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381422147 rs_1565287512

1 SubmittersRCV003524763

NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter) SNV
Germline
Chr11:66531026 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381425669 rs_766218865

1 SubmittersRCV003524709

NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter) SNV
Germline
Chr11:66529929 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
CA381424082 rs_1416464603

1 SubmittersRCV003633127

NM_024649.5(BBS1):c.472A>G (p.Ser158Gly) SNV
Germline
Chr11:66515579 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA381457371 rs_2495739948

1 SubmittersRCV003889602

NM_024649.5(BBS1):c.69G>A (p.Trp23Ter) SNV
Unknown
Chr11:66511034 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter
rs_2495728074

1 SubmittersRCV004573992

NM_024649.5(BBS1):c.592-1G>C SNV
Germline
Chr11:66519616 Likely pathogenic BBS1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004742850

NM_024649.5(BBS1):c.2T>G (p.Met1Arg) SNV
Germline
Chr11:66510661 Pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005051045

NM_024649.5(BBS1):c.724-1G>A SNV
Germline
Chr11:66521269 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005051060

NM_024649.5(BBS1):c.1339+2T>A SNV
Germline
Chr11:66526809 Likely pathogenic Bardet-Biedl syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005051072

NM_024649.5(BBS1):c.159+1G>T SNV
Germline
Chr11:66511240 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005115082

NM_024649.5(BBS1):c.859G>T (p.Glu287Ter) SNV
Germline
Chr11:66523484 Pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005408302

NM_024649.5(BBS1):c.1608+1G>T SNV
Germline
Chr11:66531029 Likely pathogenic Bardet-Biedl syndrome 1 No Assertion Criteria Provided

1 SubmittersRCV005614974