Unique variants in the HBB gene

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

1102 entries on 12 pages. Showing entries 1 - 100.
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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     
+/. 4 - - - r.(=), r.? p.(=), p.? ACMG pathogenic (recessive) g.5248330T>C, g.5248389G>A, g.5248402G>A g.5227100T>C, g.5227159G>A, g.5227172G>A c.-138C>T, c.-151C>T, c.-79A>G - HBB_001031, HBB_001078, HBB_001089 ACMG PS3, PM2, PP5, combination alleles not determined PubMed: Marinakis 2021, PubMed: Reiner 2022 - rs63751208 Germline - 1/73755 controls - - - Johan den Dunnen, Jan Traeger-Synodinos
+/. 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
+/., +?/. 12 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(NM_000518.5):c.-80T>A - HBB_001087 VKGL data sharing initiative Nederland, 1 more item data from Globin Gene Server (HbVar-765), OMIM:var0377, PubMed: Fattoum, PubMed: Fei, IthaNet-22 - rs33980857 CLASSIFICATION record, Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, VKGL-NL_Utrecht, 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
+/., +?/. 11 1, _1 c.-78A>G - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248329T>C g.5227099T>C -28 (A->G) beta+, -28 (A>G), -28A>G, -50-28A>G - HBB_001091 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-769), OMIM:var0381, PubMed: Orkin SH, IthaNet-29, 1 more item - rs33931746 Germline, SUMMARY record - 1/951 individuals, 2/951 individuals - - - Kees Harteveld, Baosheng Zhu, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-77A>T - r.(=) p.(=) - pathogenic g.5248328T>A g.5227098T>A -27 (A>T) - HBB_004032 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-30 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-77_-76del - r.(=), r.? p.(=), p.? - pathogenic, VUS g.5248329_5248330del g.5227099_5227100del -27 (-AA), -27 (-AA), -77_-76delAA - HBB_001353 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-31, 1 more item - rs63750953 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-76A>C - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248327T>G g.5227097T>G -26 A>C - HBB_001667 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2711), Waye JS (E-4075-2010), IthaNet-2175 - rs281864525 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 _1 c.-75G>C - r.(=), r.(?) p.(=), p.(?) - pathogenic, VUS g.5248326C>G g.5227096C>G -25 (G>C) - HBB_001351 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-32, 1 more item - rs63750400 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
?/. 1 - c.-75G>T - r.(=) p.(=) - VUS g.5248326C>A g.5227096C>A -25 G>T - HBB_004030 β-thalassaemia IthaNet-2565 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 _1_1i c.-74_31del - r.(=), r.0? p.(=), p.0? - pathogenic, VUS g.5248222_5248326del g.5226992_5227096del 105 bp deletion - HBB_001266 105 bp deletion beta0, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-976),, IthaNet-282 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-73_-8del - r.(=) p.(=) - pathogenic g.5248259_5248324del g.5227029_5227094del -23 to +23 (+45 bp duplication), -73_-8del45 - HBB_004029 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-33 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
-/. 3 1 c.-68C>A - r.(=) p.(=) - benign g.5248319G>T g.5227089G>T -50-18C>A - HBB_003041 - - - - Germline - - - - - Kees Harteveld
?/. 2 1 c.-51T>C - r.spl? p.? - VUS g.5248302A>G g.5227072A>G -50-1T>C - HBB_003066 - - - - Germline - - - - - Kees Harteveld
+/., +?/. 14 1 c.-50A>C - r.(=), r.(?) p.(=) - likely pathogenic, pathogenic, VUS g.5248301T>G g.5227071T>G CAP +1 (A->C) beta+, CAP +1 (A>C) - HBB_001092 2 heterozygous, no homozygous; Clinindb (India), 1 more item data from Globin Gene Server (HbVar-770), OMIM:var0387, PubMed: Wong C, IthaNet-34, 1 more item - rs34305195 Germline, SUMMARY record - 2/2795 individuals - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris, Mohammed Faruq
?/. 1 - c.-48A>T - r.(?) p.(=) - VUS g.5248299T>A g.5227069T>A CAP +3 A>T - HBB_004025 β-thalassaemia IthaNet-3464 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/. 1 - c.-43C>T - r.(?) p.(=) - pathogenic g.5248294G>A g.5227064G>A CAP +8 (C>T) - HBB_004023 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-35 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 1 c.-41del - r.(?) p.(=), p.(?) - pathogenic, VUS g.5248293del g.5227063del c.-41delT, CAP +10 (-T), -41delT - HBB_001093 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-771), PubMed: Athanassiadou A, IthaNet-36 - rs35352549 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
-/- 1 - c.-35A>G - r.(?) p.(=) - benign g.5248286T>C g.5227056T>C CAP +16 A>G - HBB_004019 - IthaNet-2494 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+?/., -/-, -/., ?/. 30 1 c.-31C>T - r.(=), r.(?) p.(=), p.(?) - benign, VUS g.5248282G>A g.5227052G>A CAP +20 C>T - HBB_001339 - IthaNet-37, 1 more item - rs63750628 Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 1 c.-29G>A - r.(?) p.(=), p.(?) - pathogenic, VUS g.5248280C>T g.5227050C>T 5'UTR; +22 (G->A) beta+, CAP +22 (G>A) - HBB_001094 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-772), PubMed: Cai, PubMed: Oner, IthaNet-38 - rs34704828 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-29G>T - r.(?) p.(=) - pathogenic g.5248280C>A g.5227050C>A CAP +22 (G>T) - HBB_004018 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-3345 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
?/. 1 1 c.-25T>C - r.(?) p.(=) - VUS g.5248276A>G g.5227046A>G - - HBB_003006 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.-21T>A - r.(?) p.(=) - VUS g.5248272A>T g.5227042A>T CAP +30 T>A - HBB_004013 β-thalassaemia IthaNet-2536 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 2 1 c.-18C>G - r.(?) p.(=), p.(?) - pathogenic, VUS g.5248269G>C g.5227039G>C CAP +33 (C>G) - HBB_001095 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-773), PubMed: Ho PJ, IthaNet-39 - rs34135787 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/. 1 - c.-12C>T - r.(?) p.(=) - pathogenic g.5248263G>A g.5227033G>A CAP +39 C>T - HBB_004006 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-2176 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+?/., ?/. 2 1 c.-10_-7del - r.(?) p.(=) - VUS g.5248260_5248263del g.5227030_5227033del 5'UTR; +43 to +40 (-AAAC) beta+, CAP +40 to +43 (-AAAC), -11_-8delAAAC - HBB_001096, HBB_004002 β-thalassaemia data from Globin Gene Server (HbVar-774), PubMed: Huang, PubMed: Frances, IthaNet-40 - rs34196559 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 1 c.-6G>C Hb Odisha r.(?) p.(=), p.(?) - pathogenic, VUS g.5248257C>G g.5227027C>G CAP +45 (G>C) - HBB_001941 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-3041), PubMed: Sahoo SS, IthaNet-41 - - Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+?/. 1 _1_3_ c.-195_*135[0] (deltabeta)0-Thal Laotian, SEA, Vietnamese r.0 p.0 - pathogenic g.5241854_5254463del g.5220624_5233233del NC_000011.9:g.5241853_5254462del - HBD_001828 - 1 more item - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1_1 c.-195_-15[2] Hb anti-Lepore Hong Kong r.? p.? - VUS g.5248267_5255687dup g.5227037_5234457dup NG_000007.3:g.63160_70572dup - HBD_001973 - data from Globin Gene Server (HbVar-3119), PubMed: So CC - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+/., +?/., -/-, ?/. 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 - c.1A>C - r.(?) p.0? - pathogenic g.5248251T>G g.5227021T>G Init CD ATG>CTG - HBB_004074 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-43 - - SUMMARY record - - - - - IthaNet - Petros Kountouris
+/., +?/. 5 1 c.1A>G - r.(?) p.(Met1?), p.0? - likely pathogenic, pathogenic, VUS g.5248251T>C g.5227021T>C ATG->GTG beta, Met1Val, Init CD ATG>GTG, Met1? - HBB_001097 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-775), PubMed: Hattori, IthaNet-42 - rs34563000 Germline, SUMMARY record - - - - - Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 2 1 c.2T>A - r.(?) p.0? - pathogenic, VUS g.5248250A>T g.5227020A>T Init CD ATG>AAG, Initiation codon T>A, Met1Lys - HBB_001348 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-2530), PubMed: Lacan, IthaNet-46 - rs33941849 Germline, SUMMARY record - - - - - HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
+/., +?/. 7 1 c.2T>C - r.(?) p.(Met1?), p.0? - likely pathogenic, pathogenic, VUS g.5248250A>G g.5227020A>G ATG->ACG beta0, Met1Thr, Init CD ATG>ACG, Met1? - HBB_001098 14 heterozygous, no homozygous; Clinindb (India), 1 more item data from Globin Gene Server (HbVar-776), OMIM:var0345, PubMed: Jankovic L, IthaNet-44, 1 more item - rs33941849 Germline, SUMMARY record - 14/2795 individuals - - - Andreas Laner, Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris, Mohammed Faruq
+/., +?/. 3 1 c.2T>G - r.(?) p.(Met1?), p.0? - pathogenic, VUS g.5248250A>C g.5227020A>C ATG->AGG beta0, Met1Arg, Init CD ATG>AGG - HBB_001099 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis data from Globin Gene Server (HbVar-777), OMIM:var0344, PubMed: Koo, PubMed: Lam, IthaNet-45 - rs33941849 Germline, SUMMARY record - - - - - Kees Harteveld, HbVar - Belinda Giardine and Ross Hardison, IthaNet - Petros Kountouris
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