Total 45 pathogenic variants reported for Hb SS disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV
Germline		 Chr11:5227003 Pathogenic Malaria, resistance to
HEMOGLOBIN C
Hb SS disease
Condition: not provided
beta Thalassemia
9 conditions
Heinz body anemia
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
HBB-related disorder
Inherited hemoglobinopathy
Hereditary persistence of fetal hemoglobin
Sickle cell-hemoglobin C disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124780 rs_33930165

28 SubmittersRCV000016285RCV000016284RCV000202507RCV000224028RCV000576347RCV001535943RCV001813746RCV002415418RCV002288494RCV003335041RCV004017254RCV003137529RCV003150807
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV
Germline		 Chr11:5226684 Conflicting classifications of pathogenicity HEMOGLOBIN CITY OF HOPE
beta Thalassemia
Condition: not provided
not specified
Hb SS disease
Hemoglobin E
beta Thalassemia
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Dominant beta-thalassemia
Fetal hemoglobin quantitative trait locus 1
9 conditions		 Criteria Provided
Conflicting Classifications
 CA124797 rs_33947415

15 SubmittersRCV000016301RCV000396079RCV000587680RCV000855646RCV001004567RCV001107022RCV000709890RCV001107023RCV001535933
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV
Germline		 Chr11:5225678 Pathogenic/Likely pathogenic Hb D-Los Angeles
beta Thalassemia
Hb SS disease
HBB-related disorder
Condition: not provided
Hemoglobin D disease
Heinz body anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124824 rs_33946267

17 SubmittersRCV000016317RCV000029994RCV000202465RCV000778329RCV000723826RCV001175348RCV002247348
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV
Germline		 Chr11:5226943 Pathogenic Hemoglobin E
Beta-plus-thalassemia
Hemoglobin E/beta thalassemia disease
Malaria, resistance to
Hb SS disease
not specified
Condition: not provided
beta Thalassemia
Hemoglobin E disease
Anemia
9 conditions
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
HBB-related disorder
Malaria, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124838 rs_33950507

25 SubmittersRCV000016329RCV000016330RCV000016331RCV000016332RCV000202534RCV000506024RCV000521111RCV000496072RCV000778330RCV000853358RCV001536065RCV002415419RCV002288495RCV004532365RCV003989105
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) SNV
Germline		 Chr11:5225632 Conflicting classifications of pathogenicity not specified
beta Thalassemia
Hb SS disease
Condition: not provided
Inborn genetic diseases
Beta-thalassemia HBB/LCRB		 Criteria Provided
Conflicting Classifications
 CA124914 rs_33949486

7 SubmittersRCV000016385RCV000029996RCV001004558RCV001284489RCV002321485RCV002290955
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) SNV
Germline		 Chr11:5226930 Pathogenic beta Thalassemia
Condition: not provided
Hb SS disease
Beta-thalassemia major
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213890 rs_33960103

14 SubmittersRCV000016432RCV000506942RCV001004351RCV001794452RCV003338382
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) SNV
Germline		 Chr11:5226940 Pathogenic/Likely pathogenic HEMOGLOBIN KNOSSOS
Beta-plus-thalassemia
Beta-Knossos-thalassemia
beta Thalassemia
Condition: not provided
Hemoglobinopathy
Hb SS disease
Malaria, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124983 rs_35424040

13 SubmittersRCV000016439RCV000016440RCV000016441RCV000169609RCV000757368RCV000780311RCV001004353RCV003992156
NM_000518.5(HBB):c.389C>T (p.Ala130Val) SNV
Germline		 Chr11:5225653 Conflicting classifications of pathogenicity HEMOGLOBIN LA DESIRADE
Hb SS disease
Condition: not provided
Hemoglobinopathy		 Criteria Provided
Conflicting Classifications
 CA124993 rs_111645889

6 SubmittersRCV000016450RCV001004559RCV001284158RCV001804165
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV
Germline		 Chr11:5225678 Pathogenic/Likely pathogenic HEMOGLOBIN EGYPT
HEMOGLOBIN O (ARAB)
beta Thalassemia
Hb SS disease
Condition: not provided
Sickle cell-Hemoglobin O Arab disease
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125070 rs_33946267

11 SubmittersRCV000016525RCV000016524RCV000029993RCV000202511RCV000508438RCV000587075RCV002476974
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) SNV
Germline		 Chr11:5225710 Pathogenic HEMOGLOBIN SHOWA-YAKUSHIJI
Beta-plus-thalassemia
Beta-Showa-Yakushiji thalassemia
beta Thalassemia
Hb SS disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125166 rs_35256489

6 SubmittersRCV000016598RCV000016599RCV000016600RCV000589517RCV001004561RCV002476975
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV
Germline		 Chr11:5226970 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
9 conditions
Hb SS disease
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125257 rs_33986703

15 SubmittersRCV000016655RCV000020337RCV000507505RCV000763255RCV001004355RCV002288498
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV
Germline		 Chr11:5226774 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
Hb SS disease
alpha Thalassemia
Heinz body anemia
Beta-thalassemia HBB/LCRB
Inborn genetic diseases
9 conditions
HBB-related disorder
Malaria, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125259 rs_11549407

36 SubmittersRCV000016656RCV000254827RCV000379715RCV001004570RCV001197268RCV002221479RCV002288499RCV002336086RCV002476976RCV004532366RCV003987324
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) SNV
Germline		 Chr11:5226975 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125261 rs_63750783

14 SubmittersRCV000016657RCV000576738RCV000508601RCV001004356RCV003985073
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) SNV
Germline		 Chr11:5225678 Pathogenic Dominant beta-thalassemia
Condition: not provided
Hb SS disease
beta Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125263 rs_33946267

8 SubmittersRCV000016658RCV000507274RCV001004560RCV000984185
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) SNV
Germline		 Chr11:5226762 Pathogenic Beta zero thalassemia
beta Thalassemia
Hb SS disease
Condition: not provided
Hemoglobinopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125267 rs_33922842

10 SubmittersRCV000016660RCV000665678RCV001004568RCV000506797RCV000780310
NM_000518.5(HBB):c.2T>G (p.Met1Arg) SNV
Germline		 Chr11:5227020 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
Hb SS disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125299 rs_33941849

9 SubmittersRCV000016691RCV000505904RCV000664667RCV001004361
NM_000518.5(HBB):c.92+1G>A SNV
Germline		 Chr11:5226929 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Beta-thalassemia HBB/LCRB
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125303 rs_33971440

28 SubmittersRCV000016694RCV000020340RCV000390929RCV001004350RCV001329338RCV002288501RCV002476978
NM_000518.5(HBB):c.92+1G>T SNV
Germline		 Chr11:5226929 Pathogenic/Likely pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions
Inborn genetic diseases
HBB-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125304 rs_33971440

15 SubmittersRCV000016695RCV000169505RCV000507580RCV001004349RCV002482875RCV002444432RCV004532369
NM_000518.5(HBB):c.315+1G>A SNV
Germline		 Chr11:5226576 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
not specified
Dominant beta-thalassemia
9 conditions
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125305 rs_33945777

24 SubmittersRCV000016696RCV000020332RCV000255349RCV001004566RCV001731303RCV001723572RCV002476979RCV002288502RCV003987325
NM_000518.5(HBB):c.92+5G>C SNV
Germline		 Chr11:5226925 Pathogenic Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
9 conditions
Hb SS disease
Beta-thalassemia major
Beta-thalassemia HBB/LCRB
Inborn genetic diseases
Hereditary persistence of fetal hemoglobin
Malaria, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125310 rs_33915217

28 SubmittersRCV000016705RCV000020341RCV000255746RCV000763253RCV001004348RCV001794453RCV002288503RCV002444433RCV003445071RCV003987326
NM_000518.5(HBB):c.92+6T>C SNV
Germline		 Chr11:5226924 Conflicting classifications of pathogenicity Beta-plus-thalassemia
Condition: not provided
beta Thalassemia
9 conditions
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Hemoglobin E
Inborn genetic diseases
Heinz body anemia
Malaria, susceptibility to
Beta-thalassemia HBB/LCRB
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA125313 rs_35724775

22 SubmittersRCV000016708RCV000417932RCV000415353RCV000763252RCV001004347RCV001107024RCV001107025RCV002371774RCV002247349RCV003988822RCV004566748RCV004532370
NM_000518.5(HBB):c.93-21G>A SNV
Germline		 Chr11:5226820 Pathogenic/Likely pathogenic Beta-plus-thalassemia
beta Thalassemia
Beta-thalassemia major
9 conditions
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125315 rs_35004220

30 SubmittersRCV000016712RCV000020343RCV000030008RCV000763251RCV000799079RCV001004346RCV001262998RCV002371775RCV002288504RCV003989289
NM_000518.5(HBB):c.316-106C>G SNV
Germline		 Chr11:5225832 Pathogenic Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
Dominant beta-thalassemia
Beta-thalassemia HBB/LCRB
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125316 rs_34690599

19 SubmittersRCV000016715RCV000029978RCV000506445RCV001004564RCV002272021RCV002288505RCV002476980
NM_000518.5(HBB):c.316-197C>T SNV
Germline		 Chr11:5225923 Pathogenic Beta zero thalassemia
beta Thalassemia
Beta-thalassemia major
Hb SS disease
Condition: not provided
HBB-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125317 rs_34451549

11 SubmittersRCV000016716RCV000020334RCV000029984RCV001004565RCV000794203RCV004532371
NM_000518.5(HBB):c.75T>A (p.Gly25=) SNV
Germline		 Chr11:5226947 Pathogenic/Likely pathogenic Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125318 rs_33951465

10 SubmittersRCV000016717RCV000030002RCV000508672RCV001004354RCV002496383
NM_000518.5(HBB):c.-78A>C SNV
Germline		 Chr11:5227099 Pathogenic Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125328 rs_33931746

10 SubmittersRCV000016728RCV000589656RCV000508592RCV001004363RCV002482876
NM_000518.5(HBB):c.-78A>G SNV
Germline		 Chr11:5227099 Pathogenic/Likely pathogenic Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125329 rs_33931746

10 SubmittersRCV000016729RCV000029960RCV000506257RCV001004362
NM_000518.5(HBB):c.316-2A>G SNV
Germline		 Chr11:5225728 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341711 rs_33914668

13 SubmittersRCV000016701RCV000020336RCV000508360RCV001004562RCV002504815RCV003389313
NM_000518.4(HBB):c.-137C>T SNV
Germline		 Chr11:5227158 Pathogenic beta Thalassemia
Hb SS disease
Condition: not provided
Beta thalassemia intermedia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213884 rs_33941377

5 SubmittersRCV000445650RCV001004365RCV001379381RCV003317048
NM_000518.5(HBB):c.-31C>T SNV
Germline		 Chr11:5227052 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
Hb SS disease
Hemoglobin E
not specified
Dominant beta-thalassemia		 Criteria Provided
Conflicting Classifications
 CA342844 rs_63750628

6 SubmittersRCV000029956RCV000755548RCV001104362RCV001104361RCV001104363RCV001420720RCV002272029
NM_000518.5(HBB):c.324C>T (p.Gly108=) SNV
Germline		 Chr11:5225718 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hemoglobin E		 Criteria Provided
Conflicting Classifications
 CA342866 rs_193922562

6 SubmittersRCV000507146RCV000759069RCV001103969RCV001103966RCV001103967RCV001103968
NM_000518.5(HBB):c.402G>C (p.Val134=) SNV
Germline		 Chr11:5225640 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided
Hemoglobin E
Fetal hemoglobin quantitative trait locus 1
Hb SS disease
Inborn genetic diseases
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA342870 rs_113082294

9 SubmittersRCV000029995RCV000860902RCV001107581RCV001107580RCV001107582RCV002354172RCV004532419
NM_000518.5(HBB):c.*110T>C SNV
Germline		 Chr11:5225488 Pathogenic Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213889 rs_33978907

11 SubmittersRCV000016730RCV000445649RCV000506540RCV001004557RCV004566754
NM_000518.5(HBB):c.274C>T (p.Leu92=) SNV
Germline		 Chr11:5226618 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hemoglobin E
beta Thalassemia
Hb SS disease
Fetal hemoglobin quantitative trait locus 1		 Criteria Provided
Conflicting Classifications
 CA5839740 rs_769583496

5 SubmittersRCV000507587RCV000756242RCV001104256RCV001104257RCV001104258RCV001104255
NM_000518.5(HBB):c.294C>T (p.His98=) SNV
Germline		 Chr11:5226598 Conflicting classifications of pathogenicity not specified
Condition: not provided
beta Thalassemia
Hemoglobin E
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5839738 rs_34515413

7 SubmittersRCV000506063RCV000585933RCV001103970RCV001103972RCV001104254RCV001103971RCV003159645
NM_000518.5(HBB):c.246C>A (p.Leu82=) SNV
Germline		 Chr11:5226646 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hemoglobin E		 Criteria Provided
Conflicting Classifications
 CA5839741 rs_145669504

6 SubmittersRCV000505921RCV000759796RCV001104261RCV001107021RCV001104259RCV001104260
NM_000518.5(HBB):c.316-7C>A SNV
Germline		 Chr11:5225733 Conflicting classifications of pathogenicity Hb SS disease
not specified
beta Thalassemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_34483965

7 SubmittersRCV001004563RCV001000150RCV000667076RCV001283996
NM_000518.5(HBB):c.85C>T (p.Leu29=) SNV
Germline		 Chr11:5226937 Conflicting classifications of pathogenicity beta Thalassemia
Fetal hemoglobin quantitative trait locus 1
Hemoglobin E
Hb SS disease
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_33958088

3 SubmittersRCV001107681RCV001107680RCV001107682RCV001107683RCV001174809RCV002069760