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Items: 1 to 100 of 181

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:215947-231157
HBA1, HBA2, HBM, HBQ1alpha ThalassemiaPathogenic
(Mar 7, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr16:226717
GRCh38:
Chr16:176718
HBA1, LOC106804613M1Kalpha ThalassemiaLikely pathogenic
(Jun 27, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr16:222984
GRCh38:
Chr16:172985
HBA2, LOC106804612Y25Dalpha ThalassemiaPathogenic
(Feb 2, 2023)
no assertion criteria provided
4.
GRCh37:
Chr16:223171
GRCh38:
Chr16:173172
HBA2, LOC106804612D48fsalpha ThalassemiaPathogenic
(Jul 23, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr16:222957
GRCh38:
Chr16:172958
HBA2, LOC106804612G16Calpha ThalassemiaLikely pathogenicno assertion criteria provided
6.
GRCh37:
Chr11:5246696
GRCh38:
Chr11:5225466
HBB, LOC107133510, LOC110006319Hb SS disease, Dominant beta-thalassemia, Erythrocytosis, familial, 6,
Hereditary persistence of fetal hemoglobin, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Beta-thalassemia HBB/LCRB, Heinz body anemia, Malaria, susceptibility to,
not specified
Uncertain significance
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr16:227307
GRCh38:
Chr16:177308
HBA1, LOC106804613L110fsalpha Thalassemia, Heinz body anemia, Hemoglobin H disease,
Methemoglobinemia, alpha type, Erythrocytosis, familial, 7, not provided,
alpha Thalassemia
Pathogenic/Likely pathogenic
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:5246959
GRCh38:
Chr11:5225729
HBB, LOC107133510, LOC110006319not provided, Heinz body anemia, Hb SS disease,
Dominant beta-thalassemia, Erythrocytosis, familial, 6, Malaria, susceptibility to,
alpha Thalassemia, Methemoglobinemia, beta-globin type, Hereditary persistence of fetal hemoglobin,
Beta-thalassemia HBB/LCRB
Uncertain significance
(Jun 26, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr16:222869
GRCh38:
Chr16:172870
HBA2, LOC106804612not providedBenign
(Jul 9, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr16:176680-177522
NPRL3alpha Thalassemianot providedno assertion provided
11.
GRCh37:
Chr16:226717
GRCh38:
Chr16:176718
HBA1, LOC106804613M1fsalpha ThalassemiaLikely pathogenic
(Dec 30, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr16:226808-226812
GRCh38:
Chr16:176809-176813
HBA1, LOC106804613alpha ThalassemiaLikely pathogenic
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:222965
GRCh38:
Chr16:172966
LOC106804612, HBA2G19fsalpha ThalassemiaPathogenic
(Dec 1, 2020)
no assertion criteria provided
14.
GRCh37:
Chr16:223011-223034
GRCh38:
Chr16:173012-173035
HBA2, LOC106804612not providedLikely benign
(Apr 21, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr16:223273
GRCh38:
Chr16:173274
LOC106804612, HBA2S82Falpha ThalassemiaBenign
(Dec 1, 2020)
no assertion criteria provided
16.
GRCh37:
Chr16:222981
GRCh38:
Chr16:172982
HBA2, LOC106804612E24Knot providedUncertain significance
(Aug 20, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr16:226982
GRCh38:
Chr16:176983
HBA1, LOC106804613S50Rnot providedUncertain significance
(Sep 27, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr16:222994
GRCh38:
Chr16:172995
HBA2, LOC106804612E28Gnot providedUncertain significance
(Mar 9, 2020)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:227010
GRCh38:
Chr16:177011
HBA1, LOC106804613G60Rnot provided, alpha ThalassemiaPathogenic
(Aug 29, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:227273
GRCh38:
Chr16:177274
HBA1, LOC106804613alpha ThalassemiaUncertain significance
(May 13, 2020)
no assertion criteria provided
21.
GRCh37:
Chr16:227089
GRCh38:
Chr16:177090
HBA1, LOC106804613D86Valpha ThalassemiaUncertain significance
(Aug 15, 2020)
no assertion criteria provided
22.
GRCh37:
Chr16:222985
GRCh38:
Chr16:172986
LOC106804612, HBA2Y25Calpha ThalassemiaUncertain significance
(Aug 14, 2020)
no assertion criteria provided
23.
GRCh37:
Chr16:226717
GRCh38:
Chr16:176718
HBA1, LOC106804613M1Ralpha ThalassemiaPathogenic
(May 3, 2020)
criteria provided, single submitter
24.
GRCh38:
Chr16:151479-182582
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613, LOC130058090, LOC130058091alpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
25.
HBA1, HBA2, HBZalpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
26.
HBA1, HBA2, HBZalpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
27.
HBA1, HBA2, HBZalpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
28.
GRCh38:
Chr16:169756-181595
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091alpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
29.
GRCh38:
Chr16:168531-183028
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091alpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
30.
GRCh37:
Chr16:227376-227377
GRCh38:
Chr16:177377-177378
HBA1, LOC106804613V133fsalpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
31.
GRCh37:
Chr16:223547
GRCh38:
Chr16:173548
HBA2, LOC106804612L126Qalpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
32.
GRCh37:
Chr16:226171-226295
GRCh38:
Chr16:176172-176296
HBA1, LOC106804613alpha ThalassemiaBenign
(Nov 25, 2019)
no assertion criteria provided
33.
GRCh37:
Chr16:222831
GRCh38:
Chr16:172832
HBA2, LOC106804612alpha ThalassemiaBenign
(Nov 25, 2019)
no assertion criteria provided
34.
GRCh37:
Chr16:221999-231399
GRCh38:
Chr16:172000-181400
HBA1, HBA2, LOC106804613, LOC130058090, LOC130058091, HBQ1, LOC106804612alpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
35.
GRCh37:
Chr16:221844-231553
GRCh38:
Chr16:171845-181554
LOC130058090, LOC130058091, HBA1, HBA2, HBQ1, LOC106804612, LOC106804613alpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
36.
HBA1, HBA2alpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
37.
HBA1, HBA2alpha ThalassemiaPathogenic
(Nov 25, 2019)
no assertion criteria provided
38.
GRCh37:
Chr16:223646
GRCh38:
Chr16:173647
HBA2, LOC106804612alpha ThalassemiaUncertain significance
(May 20, 2019)
no assertion criteria provided
39.
GRCh37:
Chr16:222853
GRCh38:
Chr16:172854
HBA2, LOC106804612alpha Thalassemia, Heinz body anemia, Hemoglobin H disease,
Erythrocytosis, familial, 7, not provided
Uncertain significance
(Jan 14, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:227339
GRCh38:
Chr16:177340
HBA1, LOC106804613P120SMethemoglobinemia, alpha type, Erythrocytosis, familial, 7, Heinz body anemia,
alpha Thalassemia, Hemoglobin H disease, not specified,
not provided, alpha Thalassemia
Pathogenic
(Nov 11, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr16:223545
GRCh38:
Chr16:173546
HBA2, LOC106804612not specifiedLikely benign
(Aug 8, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr16:222935
GRCh38:
Chr16:172936
HBA2, LOC106804612K8Nnot specifiedUncertain significance
(Feb 20, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr16:223447
GRCh38:
Chr16:173448
HBA2, LOC106804612not specified, not providedConflicting interpretations of pathogenicity
(Jan 4, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr16:227030
GRCh38:
Chr16:177031
LOC106804613, HBA1not specifiedLikely benign
(May 3, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr16:223483
GRCh38:
Chr16:173484
LOC106804612, HBA2C105Ralpha ThalassemiaPathogenic
(Nov 26, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr16:226927
GRCh38:
Chr16:176928
HBA1, LOC106804613alpha Thalassemia, Methemoglobinemia, alpha type, Erythrocytosis, familial, 7,
Heinz body anemia, alpha Thalassemia, Hemoglobin H disease,
not provided
Pathogenic/Likely pathogenic
(Jul 23, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:226806-226807
GRCh38:
Chr16:176807-176808
HBA1, LOC106804613R32fsalpha Thalassemia, Methemoglobinemia, alpha type, Erythrocytosis, familial, 7,
Heinz body anemia, Hemoglobin H disease, not provided
Pathogenic
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:5246870
GRCh38:
Chr11:5225640
HBB, LOC107133510, LOC110006319Heinz body anemia, alpha Thalassemia, Erythrocytosis, familial, 6,
Methemoglobinemia, beta-globin type, Malaria, susceptibility to, Hb SS disease,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB,
Inborn genetic diseases, not provided ...see more
Likely benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:223584
GRCh38:
Chr16:173585
HBA2, LOC106804612not provided, not specifiedLikely benign
(May 25, 2023)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:5248524
GRCh38:
Chr11:5227294
HBB, LOC106099062, LOC107133510not provided, Erythrocytosis, familial, 6, Dominant beta-thalassemia,
Heinz body anemia, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Hb SS disease, Malaria, susceptibility to, Hereditary persistence of fetal hemoglobin,
Beta-thalassemia HBB/LCRB
Benign/Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:223295-223307
GRCh38:
Chr16:173296-173308
LOC106804612, HBA2H90fsalpha ThalassemiaLikely pathogenic
(Sep 26, 2018)
no assertion criteria provided
52.
GRCh37:
Chr16:216075-231021
HBA1, HBA2, HBM, HBQ1alpha ThalassemiaPathogenic
(Nov 1, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr16:221962-228406
HBA1, HBA2alpha ThalassemiaPathogenic
(Nov 1, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr11:5247953
GRCh38:
Chr11:5226723
HBB, LOC106099062, LOC107133510G57Snot provided, Heinz body anemia, Hb SS disease,
alpha Thalassemia, Methemoglobinemia, beta-globin type, Erythrocytosis, familial, 6,
Hereditary persistence of fetal hemoglobin, Malaria, susceptibility to, Dominant beta-thalassemia,
Beta-thalassemia HBB/LCRB, not specified ...see more
Uncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr16:227069
GRCh38:
Chr16:177070
HBA1, LOC106804613N79fsHBA1-related condition, Hemoglobin H disease, Heinz body anemia,
alpha Thalassemia, Methemoglobinemia, alpha type, Erythrocytosis, familial, 7,
not provided
Pathogenic/Likely pathogenic
(Jul 8, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:222986
GRCh38:
Chr16:172987
HBA2, LOC106804612Y25*not providedPathogenic
(Apr 28, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:223126
GRCh38:
Chr16:173127
HBA2, LOC106804612M33Rnot specified, not provided, alpha Thalassemia
Conflicting interpretations of pathogenicity
(Jul 20, 2023)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr16:227018
GRCh38:
Chr16:177019
HBA1, LOC106804613V63fsnot providedPathogenic
(Dec 6, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr11:5248351
GRCh38:
Chr11:5227121
HBB, LOC106099062, LOC107133510not specified, not provided, Dominant beta-thalassemia,
Malaria, susceptibility to, Methemoglobinemia, beta-globin type, Erythrocytosis, familial, 6,
alpha Thalassemia, Hb SS disease, Heinz body anemia,
Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB ...see more
Uncertain significance
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:5246766
GRCh38:
Chr11:5225536
HBB, LOC107133510, LOC110006319Heinz body anemia, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Erythrocytosis, familial, 6, Hb SS disease, Malaria, susceptibility to,
Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB, Dominant beta-thalassemia,
not provided, not specified ...see more
Uncertain significance
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:219779-232141
GRCh38:
Chr16:169780-182142
HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091, HBA1alpha ThalassemiaPathogenic
(Jan 14, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr16:201208-232141
GRCh38:
Chr16:151209-182142
LOC130058091, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613, LOC130058090alpha ThalassemiaPathogenic
(May 8, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr11:5248232
Chr11:5247917
GRCh38:
Chr11:5227002
Chr11:5226687
HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510E7V, L69FHEMOGLOBIN JAMAICA PLAINother
(Dec 12, 2017)
no assertion criteria provided
64.
GRCh37:
Chr11:5247851
Chr11:5248232
GRCh38:
Chr11:5226621
Chr11:5227002
HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510E91K, E7VHEMOGLOBIN S (CAMEROON)Pathogenic
(May 1, 2004)
no assertion criteria provided
65.
GRCh37:
Chr11:5248218
Chr11:5246908
GRCh38:
Chr11:5226988
Chr11:5225678
HBB, LOC106099062, LOC107133510, LOC107133510, LOC110006319, HBBV12I, E122KHEMOGLOBIN O (TIBESTI)other
(Dec 12, 2017)
no assertion criteria provided
66.
GRCh37:
Chr11:5246908
Chr11:5248173
GRCh38:
Chr11:5225678
Chr11:5226943
LOC107133510, LOC110006319, HBB, HBB, LOC106099062, LOC107133510E122Q, E27KHEMOGLOBIN T (CAMBODIA)other
(Jul 20, 2016)
no assertion criteria provided
67.
GRCh37:
Chr11:5248232
Chr11:5246844
GRCh38:
Chr11:5227002
Chr11:5225614
HBB, LOC106099062, LOC107133510, HBB, LOC107133510, LOC110006319E7V, A143VHEMOGLOBIN S (TRAVIS)Pathogenic
(Jan 1, 1992)
no assertion criteria provided
68.
GRCh37:
Chr11:5247873
Chr11:5248232
GRCh38:
Chr11:5226643
Chr11:5227002
HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510K83N, E7VHEMOGLOBIN S (PROVIDENCE)Pathogenic
(Oct 1, 1988)
no assertion criteria provided
69.
GRCh37:
Chr11:5246908
Chr11:5248232
GRCh38:
Chr11:5225678
Chr11:5227002
LOC107133510, LOC110006319, HBB, HBB, LOC106099062, LOC107133510E122K, E7VSickle cell-Hemoglobin O Arab diseasePathogenic
(Apr 1, 1999)
no assertion criteria provided
70.
GRCh37:
Chr11:5248232
Chr11:5248182
GRCh38:
Chr11:5227002
Chr11:5226952
HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510E7V, V24IHEMOGLOBIN S (ANTILLES)Pathogenic
(Jun 1, 1997)
no assertion criteria provided
71.
GRCh37:
Chr11:5248232
Chr11:5247946
GRCh38:
Chr11:5227002
Chr11:5226716
HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510E7V, P59RHEMOGLOBIN ZIGUINCHORother
(Dec 12, 2017)
no assertion criteria provided
72.
GRCh37:
Chr11:5247902
Chr11:5248232
GRCh38:
Chr11:5226672
Chr11:5227002
LOC106099062, LOC107133510, HBB, HBB, LOC106099062, LOC107133510D74N, E7VHEMOGLOBIN ZIGUINCHORother
(Dec 12, 2017)
no assertion criteria provided
73.
GRCh37:
Chr11:5248233
Chr11:5247836
GRCh38:
Chr11:5227003
Chr11:5226606
LOC106099062, LOC107133510, HBB, HBB, LOC106099062, LOC107133510E7K, K96EHEMOGLOBIN ARLINGTON PARKother
(Dec 12, 2017)
no assertion criteria provided
74.
GRCh37:
Chr16:223691-223692
GRCh38:
Chr16:173692-173693
HBA2, LOC106804612not provided, alpha ThalassemiaPathogenic/Likely pathogenic
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr16:223539
GRCh38:
Chr16:173540
HBA1, HBA2, LOC106804612H123QHeinz body anemia, Erythrocytosis, familial, 7, alpha Thalassemia,
Hemoglobin H disease, not provided, Heinz body anemia,
Hemoglobin H disease, alpha Thalassemia, Erythrocytosis, familial, 7
Uncertain significance
(Nov 29, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:223383
GRCh38:
Chr16:173384
HBA2, LOC106804612not providedBenign/Likely benign
(Mar 31, 2020)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:227187
GRCh38:
Chr16:177188
LOC106804613, HBA1not providedBenign
(Apr 17, 2020)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:5247999
GRCh38:
Chr11:5226769
HBB, LOC106099062, LOC107133510R41SErythrocytosis, familial, 6, Heinz body anemia, alpha Thalassemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB,
Hb SS disease, Malaria, susceptibility to, Methemoglobinemia, beta-globin type,
not provided
Uncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:223007
GRCh38:
Chr16:173008
HBA2, LOC106804612not provided, not specifiedPathogenic
(Dec 20, 2018)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:222980
GRCh38:
Chr16:172981
HBA2, LOC106804612E24fsnot providedPathogenic
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:222956
GRCh38:
Chr16:172957
HBA2, LOC106804612W15Cnot provided, not specifiedConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr16:222888
GRCh38:
Chr16:172889
HBA2, LOC106804612not provided, not specifiedBenign
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:223207
GRCh38:
Chr16:173208
HBA2, LOC106804612G60DNon-immune hydrops fetalis, not provided, alpha Thalassemia
Pathogenic
(Jul 21, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr16:223706
GRCh38:
Chr16:173707
HBA2, LOC106804612not provided, Erythrocytosis, familial, 7, not specified,
alpha Thalassemia
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr16:226849
GRCh38:
Chr16:176850
HBA1, LOC106804613not specified, not providedBenign
(Mar 16, 2020)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:226758
GRCh38:
Chr16:176759
HBA1, LOC106804613W15Rnot providedPathogenic/Likely pathogenic
(May 8, 2023)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:226674
GRCh38:
Chr16:176675
LOC106804613, HBA1not providedBenign/Likely benign
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:227377
GRCh38:
Chr16:177378
HBA1, LOC106804613not specified, not providedLikely benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:226692
GRCh38:
Chr16:176693
LOC106804613, HBA1not specified, not providedBenign
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:227456
GRCh38:
Chr16:177457
HBA1, LOC106804613not providedBenign/Likely benign
(Nov 5, 2020)
criteria provided, multiple submitters, no conflicts
91.
GRCh38:
Chr16:172007-177537
HBA1, HBA2, LOC106804612, LOC106804613alpha ThalassemiaPathogenic
(Jan 14, 2015)
criteria provided, single submitter
92.
GRCh37:
Chr16:223735
GRCh38:
Chr16:173736
HBA2not provided, not specifiedBenign
(Jul 9, 2018)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr11:5248389
GRCh38:
Chr11:5227159
HBB, LOC106099062, LOC107133510not provided, Dominant beta-thalassemia, Fetal hemoglobin quantitative trait locus 1,
Erythrocytosis, familial, 6, Malaria, susceptibility to, Heinz body anemia,
Hb SS disease, beta Thalassemia, alpha Thalassemia,
Methemoglobinemia, beta-globin type, Hemoglobinopathy ...see more
Pathogenic/Likely pathogenic
(Sep 18, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr16:222003-227198
GRCh38:
Chr16:172004-177199
HBA1, HBA2, LOC106804612, LOC106804613alpha ThalassemiaPathogenic
(Dec 29, 2016)
no assertion criteria provided
95.
HBA2alpha ThalassemiaPathogenic
(Dec 29, 2016)
no assertion criteria provided
96.
GRCh37:
Chr16:222870-226673
GRCh38:
Chr16:172871-176674
HBA2, LOC106804612, LOC106804613, HBA1, HBA2alpha ThalassemiaPathogenic
(Dec 29, 2016)
no assertion criteria provided
97.
GRCh37:
Chr16:223693
GRCh38:
Chr16:173694
HBA2, LOC106804612alpha Thalassemia, Erythrocytosis, familial, 7, Hemoglobin H disease,
Heinz body anemia, not provided
Pathogenic
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:227039
GRCh38:
Chr16:177040
HBA1, LOC106804613N69Kalpha Thalassemianot providedno assertion provided
99.
GRCh37:
Chr16:223235
GRCh38:
Chr16:173236
HBA2, LOC106804612N69Knot providedLikely benign
(Apr 5, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr16:223004-223008
GRCh38:
Chr16:173005-173009
HBA2, LOC106804612alpha Thalassemia, Erythrocytosis, familial, 7, Hemoglobin H disease,
Heinz body anemia, alpha Thalassemia, not provided
Pathogenic
(Nov 23, 2022)
criteria provided, multiple submitters, no conflicts
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