Unique variants in the HBB gene

Information The variants shown are described using the NM_000518.4 transcript reference sequence.

1099 entries on 11 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/., ?/. 3 2 c.112T>M Hb C-Rothschild, Hb Rothschild r.(?) p.(Trp38Arg), p.Trp38Arg - VUS g.5248010A>K g.5226780A>K CD 37 TGG>AGG or CGG, [19G>A;112T>M] - HBB_000755 β-chain variant data from Globin Gene Server (HbVar-689),, IthaNet-811, IthaNet-928, 1 more item - rs33994623 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.123G>Y Hb Austin r.(?) p.(Arg41Ser), p.Arg41Ser - VUS g.5247999C>R g.5226769C>R CD 40 AGG>AGC or AGT - HBB_000763 β-chain variant data from Globin Gene Server (HbVar-311), OMIM:var0014, PubMed: Moo-Penn WF, IthaNet-941 - rs33918778 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.174C>R Hb G-Ferrara r.(?) p.(Asn58Lys), p.Asn58Lys - VUS g.5247948G>Y g.5226718G>Y CD 57 AAC>AAA or AAG - HBB_000796 β-chain variant data from Globin Gene Server (HbVar-344), OMIM:var0082, ExPASy_002948, PubMed: Giardina B, IthaNet-993 - rs35278874 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.180G>Y Hb J-Lome r.(?) p.(Lys60Asn), p.Lys60Asn - VUS g.5247942C>R g.5226712C>R CD 59 AAG>AAC or AAT - HBB_001307 β-chain variant IthaNet-998, 1 more item - rs34621955 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.186G>Y Hb Hikari r.(?) p.(Lys62Asn), p.Lys62Asn - VUS g.5247936C>R g.5226706C>R CD 61 AAG>AAC or AAT [Lys>Asn] - HBB_000805 β-chain variant data from Globin Gene Server (HbVar-354), OMIM:var0106, ExPASy_002954, PubMed: Nakatsuji T, 1 more item - rs34446260 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.198G>Y Hb J-Sicilia r.(?) p.(Lys66Asn), p.Lys66Asn - VUS g.5247924C>R g.5226694C>R CD 65 AAG>AAC or AAT - HBB_000814 β-chain variant data from Globin Gene Server (HbVar-363), OMIM:var0137, ExPASy_002959, PubMed: Ricco G, IthaNet-1017 - rs35747961 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.243C>R Hb G-Szuhu r.(?) p.(Asn81Lys), p.Asn81Lys - VUS g.5247879G>Y g.5226649G>Y CD 80 AAC>AAA or AAG (Hb Gifu) - HBB_000853 β-chain variant IthaNet-1068, 1 more item - rs35890380 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 3 2 c.249G>Y Hb Providence, Hb Providence;Hb S-Providence, Hb S-Providence r.(?) p.(=), p.(Lys83Asn), p.Lys83Asn - VUS g.5247873C>R g.5226643C>R CD 82 AAG>AAT or AAC, [20A>T;249G>Y] - HBB_000856 β-chain variant data from Globin Gene Server (HbVar-686), OMIM:var0246, PubMed: Gale RE, IthaNet-1076, IthaNet-818, 1 more item - rs33991993 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.273G>Y Hb Pierre-Bénite r.(?) p.(Glu91Asp), p.Glu91Asp - VUS g.5247849C>R g.5226619C>R CD 90 GAG>GAC or GAT - HBB_000877 β-chain variant data from Globin Gene Server (HbVar-426), OMIM:var0221, ExPASy_002997, PubMed: Baklouti F, 1 more item - rs35002698 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 2 c.279C>R Hb Saint Etienne r.(?) p.(His93Arg), p.His93Gln - pathogenic, VUS g.5247843G>Y g.5226613G>Y CD 92 CAC>CAA or CAG [His>Gln] (Hb Istanbul) - HBB_000883 β-chain variant, Haemolytic anaemia IthaNet-1109, 1 more item - rs34083951 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.288G>Y Hb Detroit r.(?) p.(Lys96Asn), p.Lys96Asn - VUS g.5247834C>R g.5226604C>R CD 95 AAG>AAC or AAT - HBB_000892 β-chain variant data from Globin Gene Server (HbVar-441), OMIM:var0067, ExPASy_003010, PubMed: Moo-Penn WF, 1 more item - rs36038739 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.294C>R Hb Malmö r.(?) p.(His98Gln), p.His98Gln - VUS g.5247828G>Y g.5226598G>Y CD 97 CAC>CAA, also CAC>CAG - HBB_000895 β-chain variant IthaNet-1130, 1 more item - rs34515413 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.300T>R Hb Coimbra r.(?) p.Asp100Glu, p.Asp100Glu) - VUS g.5247822A>Y g.5226592A>Y CD 99 GAT>GAA or GAG - HBB_000909 β-chain variant IthaNet-1141, 1 more item - rs34013622 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.306G>Y Hb Potomac r.(?) p.(Glu102Asp), p.Glu102Asp - VUS g.5247816C>R g.5226586C>R CD 101 GAG>GAC or GAT - HBB_000915 β-chain variant IthaNet-1149, 1 more item - rs35209591 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 2 c.309C>R Hb Richmond r.(?) p.(Asn103Lys), p.Asn103Lys - VUS g.5247813G>Y g.5226583G>Y CD 102 AAC>AAA or AAG - HBB_000916 β-chain variant IthaNet-1154, 1 more item - rs34227486 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 3 2 c.315G>Y Hb Camperdown, Hb Duino r.(?), r.spl? p.?, p.Arg105Ser - VUS g.5247807C>R g.5226577C>R CD 104 AGG>AGC or AGT, [278A>C;315G>Y] - HBB_000922 β-chain variant data from Globin Gene Server (HbVar-697), OMIM:var0427, PubMed: Wajcman H, IthaNet-1162, 1 more item - rs33914944 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
-/- 1 - c.316-272G>Y - r.spl? p.? - benign g.5247228C>R g.5225998C>R IVS II-579 G>T/G>C - HBB_004121 - IthaNet-3446 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+?/., ?/. 2 3 c.327C>R Hb Presbyterian r.(?) p.(Asn109Lys), p.Asn109Lys - VUS g.5246945G>Y g.5225715G>Y CD 108 AAC>AAA or AAG - HBB_000932 β-chain variant IthaNet-1174, 1 more item - rs34933751 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 3 c.328G>Y Hb Johnstown r.(?) p.(Val110Leu), p.Val110Leu - VUS g.5246944C>R g.5225714C>R CD 109 GTG>CTG or TTG - HBB_000935 β-chain variant IthaNet-1176, 1 more item - rs33969677 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 3 c.340G>Y Hb Champagne r.(?) p.(Val114Leu), p.Val114Leu - VUS g.5246932C>R g.5225702C>R CD 113 GTG>CTG or TTG [Val>Leu] - HBB_001288 β-chain variant data from Globin Gene Server (HbVar-1144), Wajcman H et al.; HbVar A-2391-2010, ;IthaNet-1186 - rs34400584 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 3 c.351T>R Hb Hafnia r.(?) p.(His117Gln), p.His117Gln - VUS g.5246921A>Y g.5225691A>Y CD 116 CAT>CAA or CAG - HBB_000947 β-chain variant data from Globin Gene Server (HbVar-496), OMIM:var0097, ExPASy_003039, PubMed: Blanke S, IthaNet-1200 - rs35209776 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/. 1 3 c.369C>R^367T>C Hb Bushey r.(?) p.Phe123Leu - VUS g.5246903G>Y^5246905A>G g.5225673G>Y^5225675A>G - - HBB_001118 - data from Globin Gene Server (HbVar-797), OMIM:var0492, PubMed: Wajcman H - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/., ?/. 2 3 c.399A>Y Hb Yamagata r.(?) p.(Lys133Asn), p.Lys133Asn - VUS g.5246873T>R g.5225643T>R CD 132 AAA>AAC, also AAA>AAT - HBB_000992 β-chain variant data from Globin Gene Server (HbVar-541), OMIM:var0302, ExPASy_003069, PubMed: Han, PubMed: Harano, 1 more item - rs33946775 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 3 c.420T>M Hb Hinsdale r.(?) p.?, p.Asn140Lys - VUS g.5246852A>K g.5225622A>K CD 139 AAT>AAC or AAA - HBB_001004 β-chain variant IthaNet-1281, 1 more item - rs34240441 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 3 c.432C>R Hb Little Rock r.(?) p.(His144Gln), p.His144Gln - VUS g.5246840G>Y g.5225610G>Y CD 143 CAC>CAA or CAG - HBB_001014 β-chain variant IthaNet-1301, 1 more item - rs36020563 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
?/. 1 - c.435G>Y Hb Andrew-Minneapolis r.(?) p.(Lys145Asn) - VUS g.5246837C>R g.5225607C>R CD 144 AAG>AAT or AAC - HBB_004146 β-chain variant IthaNet-1305 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+?/., ?/. 2 1 c.46T>M Hb Belfast r.(?) p.(Trp16Arg), p.Trp16Arg - VUS g.5248206A>K g.5226976A>K CD 15 TGG>AGG or CGG - HBB_000697 β-chain variant IthaNet-852, 1 more item - rs33946157 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 1 c.48G>Y Hb Garston r.(?) p.Trp16Cys, p.Trp16Cys) - VUS g.5248204C>R g.5226974C>R CD 15 TGG>TGC or TGT [Trp>Cys] - HBB_001807 β-chain variant ;IthaNet-2464, 1 more item - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 1 c.54G>Y Hb J-Amiens r.(?) p.(Lys18Asn), p.Lys18Asn - VUS g.5248198C>R g.5226968C>R CD 17 AAG>AAC or AAT - HBB_000702 β-chain variant data from Globin Gene Server (HbVar-250), OMIM:var0120, ExPASy_002883, PubMed: Harano T, IthaNet-858 - rs36006214 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 1 c.60C>R Hb D-Ouled Rabah r.(?) p.(Asn20His), p.Asn20Lys - VUS g.5248192G>Y g.5226962G>Y CD 19 AAC>AAA or AAG - HBB_000706 β-chain variant data from Globin Gene Server (HbVar-254), OMIM:var0064, ExPASy_002887, PubMed: Elion J, IthaNet-863 - rs63750840 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 1 c.81G>Y Hb Marijampol&#279, ;Hb Marijampolė r.(?) p.(Glu27Asp), p.Glu27Asp - VUS g.5248171C>R g.5226941C>R CD 26 GAG>GAC or GAT [Glu>Asp] - HBB_001740 β-chain variant data from Globin Gene Server (HbVar-2818), Fraser l; Green B; Mantio D; HbVar A-2391-2010, 1 more item - rs281864581 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 1 c.9T>R Hb Okayama r.(?) p.(=), p.His3Gln - VUS g.5248243A>Y g.5227013A>Y CD 2 CAT>CAA or CAG - HBB_000672 β-chain variant data from Globin Gene Server (HbVar-220), OMIM:var0206, ExPASy_002858, PubMed: Frers, PubMed: Harano, 1 more item - rs713040 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/., -/-, ?/. 68 1, 1-2, 1-3, 2, 3 c.? African I duplication, Algerian HPFH deletion, Anglo-Saxon (epsilon-gamma-delta-beta)0-Thal, Hb Kenya, 38 more items r.(?), r.0?, r.? p.0?, p.?, p.Ala130Asp^Glu, p.Glu27, p.His78Arg, p.Lys95_Leu96insLeuHisCysAspLys, p.Thr51Lys, 3 more items - benign, pathogenic, VUS g.48100_103158del, g.5031237_5254163del, g.5134113_5252589del, g.5153536_5356385del, g.68337_96161del, 36 more items g.5010007_5232933del, g.5112883_5231359del, g.5132306_5335155del, g.5132468_5246133del, 33 more items +1578 G>A, -50 G>A, 468 bp deletion, Asian Indian (10329 bp deletion), beta -176(C>T), 35 more items - DRD4_000002, HBB_000783, HBB_000820, HBB_000846, HBB_000980, HBB_001070, HBB_001269, HBB_001270, 41 more items -7719 bp del, 1,393 bp deletion beta0, 1,605 bp deletion, 12,620 bp deletion, 125 bp deletion, 6 more items Hbvar-?,, Hbvar-?, Jennifer Oliveira (F-7016-2010), data from Globin Gene Server (HbVar-1031),, 65 more items - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 _1_2 c.-7020_264del Hb Lepore r.? p.? - pathogenic g.5247858_5255271del g.5226628_5234041del - - HBB_003189 Hb Lepore Boston Washington PubMed: Pirastru 2017, Journal: Pirastru 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_3_ c.-6259_*5720del Sicilian delta/beta del r.0? p.0? - pathogenic g.5241108_5254510del g.5219878_5233280del 5197684_5211086del (hg18) - HBB_001478 Sicilian delta/beta-thalassemia deletion PubMed: Phylipsen 2012, Journal: Phylipsen 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.-2524_*8664del Dutch deletion r.0 p.0 - pathogenic g.5238170_5250781del g.5216940_5229551del Dutch (12620 bp deletion), NG_000007.3:g.68071_80682del12612 - HBB_004016 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-296 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
?/. 1 - c.-2254G>A - r.(=) p.(=) - association g.5250505C>T g.5229275C>T - - HBB_004014 1 more item IthaNet-3189 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-2038_*23951del Vietnamese, SE Asian deletion r.0 p.0 - pathogenic g.5222877_5250289del g.5201647_5229059del Vietnamese, SE Asian (HPFH-7, SEA-HPFH), NC_000011.10:g.5201647-5229059del27412bp - HBB_004012 HPFH, Hb F levels IthaNet-1505 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-1034_315+125del Croatian deletion r.0 p.0 - pathogenic g.5247682_5249285del g.5226452_5228055del Croatian (1605 bp deletion), NG_000007.3:g.69561_71164del1604 - HBB_004003 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-289 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-770_*1296del - r.0 p.0 - pathogenic g.5245532_5249021del g.5224302_5227791del 3.5 kb deletion, NC_000011.10:g.5224302-5227791del3490bp - HBB_004031 β-thalassaemia, Haemolytic anaemia IthaNet-3393 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-578_315+314del - r.0 p.0 - pathogenic g.5247493_5248829del g.5226263_5227599del 1357 bp deletion, NG_000007.3:g.69997_71353del1357 - HBB_004028 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2150 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-535_315+413del Black, British deletion r.0 p.0 - pathogenic g.5247394_5248786del g.5226164_5227556del Black, British (1393 bp deletion), NG_000007.3:g.70060_71452del1393 - HBB_004027 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-288 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 _1_2 c.-528_251del Afghan deletion beta0 r.(=), r.0? p.(=), p.0? - pathogenic, VUS g.5247871_5248779del g.5226641_5227549del Afghan (909 bp deletion) - HBB_001678 Afghan deletion beta0 (909 bp del), β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2738), Old J (E-5816-2010), PubMed: Gallienne AE, IthaNet-2125 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
-/- 1 - c.-519C>T - r.(=) p.(=) - benign g.5248770G>A g.5227540G>A -487 T>C - HBB_004026 - IthaNet-2036 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 _1_1i c.-504_28del - r.(=), r.0? p.(=), p.0? - pathogenic, VUS g.5248224_5248755del g.5226994_5227525del Black (532 bp deletion) - HBB_001268 532 bp deletion beta0, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-978), PubMed: Waye JS, IthaNet-285 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
?/. 1 - c.-464_74del - r.(=) p.(=) - VUS g.5248178_5248715del g.5226948_5227485del 538 bp deletion, NG_000007.3:g.70131_70668del - HBB_004024 β-thalassaemia IthaNet-3277 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
-/- 1 - c.-390C>T - r.(=) p.(=) - benign g.5248641G>A g.5227411G>A -300 C>T - HBB_004022 - IthaNet-2037 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
?/. 1 - c.-390_316-169delinsA - r.spl? p.? - VUS g.5247125_5248641delinsT g.5225895_5227411delinsT 1517 bp deletion - HBB_004021 β-thalassaemia IthaNet-3278 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
?/. 1 - c.-275C>T - r.(=) p.(=) - association g.5248526G>A g.5227296G>A - - HBB_004017 1 more item IthaNet-2869 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+?/., ?/. 2 _1 c.-273T>C - r.(=), r.(?) p.(=), p.(?) - VUS g.5248524A>G g.5227294A>G -223 T>C, beta nt -42 C>G - HBB_001957 β-thalassaemia Hbvar-?, PubMed: Nagar R, IthaNet-3081 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-240G>A - r.(=) p.(=) - pathogenic g.5248491C>T g.5227261C>T -190 (G>A) - HBB_004001 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-1 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-235_-110del - r.(=) p.(=) - pathogenic g.5248361_5248486del g.5227131_5227256del 125 bp deletion, NG_000007.3:g.70360_70485del125 - HBB_004015 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2122 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
?/. 1 1 c.-223T>C - r.(=) p.(=) - VUS g.5248474A>G g.5227244A>G -50-173T>C - HBB_003038 - - - - Germline - - - - - Kees Harteveld
-/. 2 1 c.-184G>C - r.(=) p.(=) - benign g.5248435C>G g.5227205C>G -50-134G>C - HBB_003098 - - - - Germline - - - - - Kees Harteveld
-?/. 1 1 c.-180G>C - r.(=) p.(=) - likely benign g.5248431C>G g.5227201C>G -50-130G>C - HBB_003068 - - - - Germline - - - - - Kees Harteveld
+/. 1 - c.-178_*440delinsCTTAT Kabylia deletion/insertion r.0 p.0 - pathogenic g.5246388_5248429delinsATAAG g.5225158_5227199delinsATAAG Kabylia deletion/insertion - HBB_004011 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2153 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+?/., -/- 2 _1 c.-176C>T - r.(=), r.(?) p.(=), p.(?) - benign, VUS g.5248427G>A g.5227197G>A -126 C>T, beta 107(+G) - HBB_001872 - ;IthaNet-2546, 1 more item - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 3 1, _1_1i c.-176_92+25del - r.0?, r.?, r.spl? p.0?, p.? - pathogenic, VUS g.5248135_5248427del g.5226905_5227197del -50-126_92+25del, 290 bp deletion - HBB_001267 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-977), PubMed: Aulehla-Scholz, PubMed: Diaz-Chico, IthaNet-283 - - Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-152C>A - r.(=) p.(=) - pathogenic g.5248403G>T g.5227173G>T -102 (C>A) - HBB_004010 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-151C>G - r.(=) p.(=) - pathogenic g.5248402G>C g.5227172G>C -101 (C>G) - HBB_004009 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-4 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 17 1, _1 c.-151C>T - r.(=), r.(?) p.(=), p.(?) - likely pathogenic, pathogenic, VUS g.5248402G>A g.5227172G>A -101 (C->T) beta+ (silent), -101 (C>T), -50-101C>T - HBB_001031 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-3, 1 more item - rs63751208 Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
?/. 1 - c.-148T>A - r.(=) p.(=) - VUS g.5248399A>T g.5227169A>T -98 T>A - HBB_004008 β-thalassaemia IthaNet-3059 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-143C>G - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248394G>C g.5227164G>C -93 C>G - HBB_001342 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2517), Giordano PC (A-9724-2010);Harteveld CL (E-4552-2010), 1 more item - rs63751043 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-142C>T - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248393G>A g.5227163G>A -92 (C->T) beta+ (mild), -92 (C>T) - HBB_001075 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-6, 1 more item - rs34883338 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-140C>G - r.(=) p.(=) - pathogenic g.5248391G>C g.5227161G>C -90 (C>G) - HBB_004007 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-3224 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 14 1, _1 c.-140C>T - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248391G>A g.5227161G>A -50-90C>T, -90 (C->T) beta+, -90 (C>T) - HBB_001076 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-754), OMIM:var0425, PubMed: Faustino P, IthaNet-7 - rs34999973 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/., ?/. 12 1, _1 c.-138C>A - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248389G>T g.5227159G>T -50-88C>A, -88 (C->A) beta+, -88 (C>A) - HBB_001077 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-755), OMIM:var0373, PubMed: Rund D, IthaNet-9 - rs33944208 Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-138C>G - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248389G>C g.5227159G>C -88 (C>G), -88 C>G - HBB_001659 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2700), Old J (E-5816-2010), IthaNet-2178 - rs33944208 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 82 1, _1 c.-138C>T - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248389G>A g.5227159G>A -50-88C>T, -88 (C->T) beta+, -88 (C>T) - HBB_001078 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-8, 1 more item - rs33944208 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 8 1, _1 c.-137C>A - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248388G>T g.5227158G>T -50-87C>A, -87 (C->A) beta+, -87 (C>A) - HBB_001079 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-757), PubMed: Coleman MB, IthaNet-12 - rs33941377 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 58 1, _1 c.-137C>G - r.(=), r.(?) p.(=), p.(?) - likely pathogenic, pathogenic, VUS g.5248388G>C g.5227158G>C -50-87C>G, -87 (C->G) beta+, -87 C>G, chr11:g.5204964 variant allele G - HBB_001080 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-10, 1 more item - rs33941377 Germline, SUMMARY record - - - - - Gerard C.P. Schaafsma, Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 5 1, _1 c.-137C>T - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248388G>A g.5227158G>A -50-87C>T, -87 (C->T) beta+, -87 (C>T) - HBB_001081 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-759), PubMed: Kulozik AE, IthaNet-11 - rs33941377 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-136C>A - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248387G>T g.5227157G>T -86 (C->A) beta+, -86 (C>A) - HBB_001082 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-760), PubMed: Meloni A, IthaNet-14 - rs33994806 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-136C>G - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248387G>C g.5227157G>C -86 (C->G) beta+, -86 C>G - HBB_001083 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-761), OMIM:var0375, PubMed: Thein, PubMed: Kazazian, IthaNet-13 - rs33994806 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
-/., ?/. 13 1 c.-133G>A - r.(=), r.(?) p.(=) - benign, VUS g.5248384C>T g.5227154C>T -50-83G>A, -83 G>A - HBB_003005 β-thalassaemia IthaNet-3077 - rs72561473 Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, IthaNet - Petros Kountouris
-?/. 1 1 c.-132G>T - r.(=) p.(=) - likely benign g.5248383C>A g.5227153C>A -50-82G>T - HBB_003067 - - - - Germline - - - - - Kees Harteveld
+?/., ?/. 2 _1 c.-127G>C - r.(=), r.(?) p.(=), p.(?) - VUS g.5248378C>G g.5227148C>G -77 G>C - HBB_001982 β-thalassaemia Hbvar-?, PubMed: Bilgen T, IthaNet-3069 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/., ?/. 2 _1 c.-126C>A - r.(=), r.(?) p.(=), p.(?) - VUS g.5248377G>T g.5227147G>T -76 C>A, beta nt -77 G>C - HBB_002035 β-thalassaemia Hbvar-?, IVALDI G; HbVar A-2391-2010, ;IthaNet-3386 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
-?/. 1 1 c.-123A>C - r.(=) p.(=) - likely benign g.5248374T>G g.5227144T>G -50-73A>C - HBB_003176 - - - - Germline - - - - - Kees Harteveld
+/. 1 - c.-123A>T - r.(=) p.(=) - pathogenic g.5248374T>A g.5227144T>A -73 (A>T) - HBB_004005 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-15 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-122T>A - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248373A>T g.5227143A>T -72 (T>A) beta+, -72 T>A - HBB_001926 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-3029), PIRASTRU, M. and coll.; HbVar A-2391-2010, ;IthaNet-2997 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/., ?/. 3 1, _1 c.-121C>T - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248372G>A g.5227142G>A -50-71C>T, -71 (C>T), -71 C>T - HBB_001660 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2701), Old J (E-5816-2010), IthaNet-2171, IthaNet-3043 - rs281864518 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/., -/., ?/. 9 1, _1 c.-106G>C - r.(=), r.(?) p.(=), p.(?) - benign, pathogenic, VUS g.5248357C>G g.5227127C>G -50-56G>C, -56 (G>C), -56 G>C - HBB_001373 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2601), Giordano P (A-9724-2010), IthaNet-16 - rs63750681 Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
-/- 1 - c.-104G>A - r.(=) p.(=) - benign g.5248355C>T g.5227125C>T -54 G>A - HBB_004004 - IthaNet-2039 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 6 1, _1 c.-100G>A - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248351C>T g.5227121C>T -50 G>A, -50-50G>A, -50G>A - HBB_001666 - data from Globin Gene Server (HbVar-2710), PubMed: Li DZ, PubMed: He 2017, Journal: He 2017 - rs281864524 Germline - 1/951 individuals, 2/951 individuals - - - Kees Harteveld, Baosheng Zhu, HbVar - Belinda Giardine and Ross Hardison
+?/., -/-, ?/. 6 _1 c.-92C>G - r.(=), r.(?) p.(=), p.(?) - benign, VUS g.5248343G>C g.5227113G>C -42 C>G, -50-42C>G, beta nt -76 C>A - HBB_001956 - Hbvar-?, PubMed: Nagar R, IthaNet-2040, IthaNet-3060 - - Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-91A>C - r.(=) p.(=) - pathogenic g.5248342T>G g.5227112T>G -41 A>T - HBB_004037 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2172 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-82C>A - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248333G>T g.5227103G>T -32 (C->A) beta+, -32 (C>A) - HBB_001084 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-762), OMIM:var0406, PubMed: Lin LI, IthaNet-18 - rs34500389 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-82C>T - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248333G>A g.5227103G>A -32 (C>T) - HBB_001352 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-19, 1 more item - rs34500389 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-81A>C - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248332T>G g.5227102T>G -31 (A->C) beta+, -31 (A>C) - HBB_001085 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-763), Cao A; HbVar A-2391-2010, ;IthaNet-21 - rs33981098 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 4 1, _1 c.-81A>G - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248332T>C g.5227102T>C -31 (A->G) beta+, -31 (A>G), -50-31A>G - HBB_001086 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-764), OMIM:var0376, PubMed: Takihara Y, IthaNet-20 - rs33981098 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
?/. 1 - c.-80del - r.(=) p.(=) - VUS g.5248331del g.5227101del -30 (-T), -80delT - HBB_004036 β-thalassaemia IthaNet-3062 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 11 1, _1 c.-80T>A - r.(=), r.(?) p.(=), p.(?) - likely pathogenic, pathogenic, VUS g.5248331A>T g.5227101A>T -30 (T->A) beta+, -30 (T>A), -50-30T>A - HBB_001087 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-765), OMIM:var0377, PubMed: Fattoum, PubMed: Fei, IthaNet-22 - rs33980857 Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 3 1, _1 c.-80T>C - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248331A>G g.5227101A>G -30 (T->C) beta (0 or + unclear), -30 (T>C), -50-30T>C - HBB_001088 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-766), OMIM:var0378, PubMed: Cai SP, IthaNet-23 - rs33980857 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-80T>G - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248331A>C g.5227101A>C -30 T>G - HBB_001661 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2702), Old J (E-5816-2010), IthaNet-2179 - rs33980857 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-79A>C - r.(=) p.(=) - pathogenic g.5248330T>G g.5227100T>G -29 (A>C) - HBB_004034 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-26 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 76 1, _1 c.-79A>G - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248330T>C g.5227100T>C -29 (A->G) beta+, -29 (A>G), -50-29A>G - HBB_001089 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-25, 1 more item - rs34598529 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-79G>A - r.(=) p.(=) - pathogenic g.5248330C>T g.5227100C>T -29 (G>A) - HBB_004035 1 more item IthaNet-27 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-79_78del - r.(=) p.(=) - pathogenic g.5248175_5248331del g.5226945_5227101del -29 to -26 (-AA), -79_78delAA - HBB_004033 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-24 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 3 1, _1 c.-78A>C - r.(=), r.(?) p.(=), p.(?) - likely pathogenic, pathogenic, VUS g.5248329T>G g.5227099T>G -28 (A->C) beta+, -28 (A>C) - HBB_001090 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-768), OMIM:var0380, PubMed: Poncz M, IthaNet-28 - rs33931746 Germline, SUMMARY record - - - - - Andreas Laner, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11     Next › Last »