Full data view for gene HBA2

Information The variants shown are described using the NM_000517.4 transcript reference sequence.

519 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.153C>R Hb Frankfurt r.(?) p.(His51Gln) Unknown - VUS g.223181C>R g.173182C>R - - HBA2_000330 - data from Globin Gene Server (HbVar-73), Wajcman H (D-2111-2010), PubMed: Prehu C - rs281860627 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.171G>Y Hb Belliard r.(?) p.Lys57Asn Unknown - VUS g.223199G>Y g.173200G>Y - - HBA2_000338 - data from Globin Gene Server (HbVar-81), OMIM:var0161, PubMed: Wajcman H - rs281860629 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.183G>Y Hb Zambia r.(?) p.Lys61Asn Unknown - VUS g.223211G>Y g.173212G>Y - - HBA2_000345 - data from Globin Gene Server (HbVar-88), OMIM:var0160, ExPASy_002780, PubMed: Barclay GP - rs111033598 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.186G>Y Hb J-Buda r.(?) p.Lys62Asn Unknown - VUS g.223214G>Y g.173215G>Y - - HBA2_000347 - data from Globin Gene Server (HbVar-90), OMIM:var0008, ExPASy_002782, PubMed: Hollan SR - rs281864775 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.207C>R Hb G-Philadelphia r.(?) p.Asn69Lys Unknown - VUS g.223235C>R g.173236C>R - - HBA2_000356 - data from Globin Gene Server (HbVar-100), OMIM:var0268, ExPASy_002787, PubMed: Molchanova TP, PubMed: Milner PF - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.237C>R Hb Stanleyville-II r.(?) p.Asn79Lys Unknown - VUS g.223265C>R g.173266C>R - - HBA2_000372 - data from Globin Gene Server (HbVar-119), OMIM:var0139, ExPASy_002800, PubMed: Silva, PubMed: Rhoda, PubMed: North - rs281860607 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.258C>R Hb AYLESBURY r.(?) p.Asp86Glu Unknown - VUS g.223286C>R g.173287C>R - - HBA2_001736 - data from Globin Gene Server (HbVar-2813), Henthorn J; HbVar A-2391-2010; - rs281864579 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.36G>Y Hb Albany-Suma r.(?) p.Lys12Asn Unknown - VUS g.222947G>Y g.172948G>Y - - HBA2_000273 - data from Globin Gene Server (HbVar-14), OMIM:var0002, PubMed: Webber BB - rs281860614 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.384G>Y Hb Jackson r.(?) p.Lys128Asn Unknown - VUS g.223554G>Y g.173555G>Y - - HBA2_000440 - data from Globin Gene Server (HbVar-194), OMIM:var0079, ExPASy_002839, PubMed: Lam H, PubMed: Moo-Penn WF - rs33972894 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.43T>M Hb Evanston r.(?) p.Trp15Arg Unknown - VUS g.222954T>M g.172955T>M - - HBA2_000275 - data from Globin Gene Server (HbVar-16), OMIM:var0031, ExPASy_002731, Giordano PC (A-9724-2010), PubMed: Harteveld CL - rs281864810 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.51G>Y Hb Beijing r.(?) p.Lys17Asn Unknown - VUS g.222962G>Y g.172963G>Y - - HBA2_000278 - data from Globin Gene Server (HbVar-20), OMIM:var0010, ExPASy_002734, PubMed: Liang CC - rs281860619 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.96G>Y Hb Prato r.spl? p.Arg32Ser Unknown - VUS g.223124G>Y g.173125G>Y - - HBA2_000305 - data from Globin Gene Server (HbVar-48), OMIM:var0055, ExPASy_002752, PubMed: Shih MC, PubMed: De Marco EV - rs111033606 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Hb Anantharaj r.(?) p.Lys12Glu Unknown - VUS g.? - Lys12Glu - HBA2_000271 - data from Globin Gene Server (HbVar-12), OMIM:var0003, ExPASy_002729, PubMed: Svasti J, PubMed: Pootrakul S - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.? Hb J-Kurosh r.(?) p.Ala20Asp Unknown - VUS g.? - Ala20Asp - HBA2_000282 - data from Globin Gene Server (HbVar-24), OMIM:var0066, ExPASy_002737, PubMed: Rahbar S - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb J-Broussais r.(?) p.Lys91Asn Unknown - VUS g.? - HBA2:c.273G>T or HBA1:c.273G>C - HBA2_000394 - data from Globin Gene Server (HbVar-142), OMIM:var0014, PubMed: Fleming, PubMed: Braconnier, PubMed: Cassius de Linval - rs281860615 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Val de Marne r.(?) p.Ser134Arg Unknown - VUS g.? - Ser134Arg - HBA2_000446 - data from Globin Gene Server (HbVar-201), OMIM:var0062, ExPASy_002844, PubMed: Ma, PubMed: Owen, PubMed: Wajcman - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Zaïre r.(?) p.Glu117_Phe118insHisLeuProAlaGlu Unknown - VUS g.? - Glu117_Phe118insHisLeuProAlaGlu - HBA2_000473 - data from Globin Gene Server (HbVar-733), OMIM:var0171, PubMed: Wajcman H - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 3 c.? Hb Grady r.(?) p.Thr119_Pro120insGluPheThr Unknown - VUS g.? - Thr119_Pro120insGluPheThr - HBA2_000474 - data from Globin Gene Server (HbVar-735), OMIM:var0045, PubMed: Cleek, PubMed: Scott, PubMed: Garel, PubMed: Huisman, PubMed: Huisman - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Neuilly-sur-Marne r.(?) p.Leu87_His88insSerAspLeu Unknown - VUS g.? - Leu87_His88insSerAspLeu - HBA2_000478 - data from Globin Gene Server (HbVar-902), - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - r.? p.? Unknown - VUS g.217820_223066del g.167821_173067del - - HBA2_001494 5.3 kb deletion; alpha-Thal-2 data from Globin Gene Server (HbVar-1080), PubMed: Lacerra G - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? - r.? p.? Unknown - VUS g.103625_193676del g.53625_143676del hg19 chr16:g.(?_103625)_(163701_193676)del - HBA2_001638 - data from Globin Gene Server (HbVar-2731), Wiemann C (B-1746-2010); - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Princes Risborough r.(?) p.Gln55His Unknown - VUS g.? - HBA2:p.[Gln55His or Gln55His ] - HBA2_001735 - data from Globin Gene Server (HbVar-2812), Henthorn J; HbVar A-2391-2010; - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. - c.? Qinzhou type deletion; Alpha-thal 2 r.? p.? Unknown - VUS g.[203508_203509del(;)203509_225435del] - - - HBA2_001838 - data from Globin Gene Server (HbVar-2921), Ju Long (M-2654-2013), PubMed: Long J - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 2 c.? Hb Nile r.(?) p.Pro78Ser Unknown - VUS g.? - NM_000558.3:c.232C>T (or HBA2) - HBA2_001999 - Hbvar-?, PubMed: van Zwieten R - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
./. _1_3_ c.-21292_*8695del - r.? p.? Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. _1_3_ c.-21292_*8695del - r.? p.? Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. _1_3_ c.-21292_*8695del - r.? p.? Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 4/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 4 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 2/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 2 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 8/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 8 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 75/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 75 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 3/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 3 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
./. - c.-7512_*11101del - r.0? p.0? Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
+?/. _1 c.-91G>A - r.(?) p.(=) Unknown - VUS g.222821G>A g.172822G>A - - HBA2_001906 - data from Globin Gene Server (HbVar-3017), PubMed: Qadah T - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. _1 c.-81C>A - r.(?) p.(=) Unknown - VUS g.222831C>A g.172832C>A - - HBA2_001900 - data from Globin Gene Server (HbVar-2990), PubMed: Qadah T - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.-59C>T - r.(?) p.(=) Unknown - VUS g.222853C>T g.172854C>T - - HBA2_001898 - data from Globin Gene Server (HbVar-2986), PubMed: Qadah T - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
?/. - c.-24C>G - r.(?) p.(=) Unknown - VUS g.222888C>G g.172889C>G HBA2(NM_000517.6):c.-24C>G - HBA2_001842 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-24C>G - r.(?) p.(=) Unknown - VUS g.222888C>G g.172889C>G - - HBA2_001842 - data from Globin Gene Server (HbVar-2927), COUQUE N.; JOLY P. (E-4142-2010);PISSARD S.; HbVar A-2391-2010; - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
-?/. - c.-21C>T - r.(?) p.(=) Unknown - likely benign g.222891C>T g.172892C>T HBA2(NM_000517.6):c.-21C>T - HBA2_004003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G - r.(?) p.0? Unknown - VUS g.222912A>G g.172913A>G Initiation codon (A->G) alpha2alpha1 hybrid gene -alpha(-3.7 kb) alpha-Thal-1, Met1Val - HBA2_000492 - data from Globin Gene Server (HbVar-1059), OMIM:var0022, PubMed: Olivieri NF - rs121909803 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. 1 c.1del - r.(?) p.(Met1?) Parent #2 - pathogenic g.222912del g.172913del HBA2: c.1del - HBA2_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
+/. 1 c.1del - r.(?) p.(Met1?) Parent #2 - pathogenic g.222912del g.172913del HBA2: c.1delA - HBA2_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
+?/. 1 c.2del - r.(?) p.0? Unknown - VUS g.222913del g.172914del Initiation codon (-T); ATG->A-G of the alpha2 gene alpha-Thal-2, 2delT - HBA2_000494 - data from Globin Gene Server (HbVar-1062), OMIM:var0069 - rs63750678 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.2T>C - r.(?) p.0? Unknown - VUS g.222913T>C g.172914T>C ATG->ACG alpha2 gene alpha-Thal-2, Met1Thr - HBA2_000493 - data from Globin Gene Server (HbVar-1061), OMIM:var0020, Giordano P (A-9724-2010), PubMed: Pirastu M - rs111033603 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.2T>G alpha2 ATG>AGG r.(?) p.0? Unknown - VUS g.222913T>G g.172914T>G p.Met1Arg - HBA2_001786 - data from Globin Gene Server (HbVar-2866), Dr. Nooshin BAYAT (D-7936-2012), PubMed: Zandian K - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.3G>T Hb Valdecilla r.(?) p.0? Unknown - VUS g.222914G>T g.172915G>T p.Met1Ile - HBA2_002017 - Hbvar-?, PubMed: de la Fuente-Gonzalo F - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.4G>A Hb A2-Fontanabuona r.(?) p.(Val2Met) Unknown - VUS g.222915G>A g.172916G>A - - HBA2_000550 - data from Globin Gene Server (HbVar-2577), - rs63751178 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.4G>C Hb St.Jozef r.(?) p.(Val2Leu) Unknown - VUS g.222915G>C g.172916G>C - - HBA2_000559 - data from Globin Gene Server (HbVar-2605), PubMed: Harteveld CL - rs63751178 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.5T>A Hb Thionville r.(?) p.(Val2Glu) Unknown - VUS g.222916T>A g.172917T>A - - HBA2_000468 - data from Globin Gene Server (HbVar-711), OMIM:var0168, ExPASy_002719 - rs33981821 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.5T>C Hb Lyon-Bron r.(?) p.(Val2Ala) Unknown - VUS g.222916T>C g.172917T>C - - HBA2_000504 - data from Globin Gene Server (HbVar-1111), Francina A (E-3974-2010), PubMed: Lacan P - rs33981821 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.5T>G Hb Antananarivo r.(?) p.(Val2Gly) Unknown - VUS g.222916T>G g.172917T>G - - HBA2_000260 - data from Globin Gene Server (HbVar-1), OMIM:var0038, PubMed: Kister J - rs33981821 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
-?/. - c.7C>T - r.(?) p.(Leu3=) Unknown - likely benign g.222918C>T g.172919C>T HBA2(NM_000517.6):c.7C>T (p.L3=) - HBA2_004004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.8T>C Hb Kaiser West End r.(?) p.(Leu3Pro) Unknown - VUS g.222919T>C g.172920T>C - - HBA2_001648 - data from Globin Gene Server (HbVar-2756), Gallivan (A-9986-2010) - rs63750585 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.8T>G Hb Chongqing r.(?) p.(Leu3Arg) Unknown - VUS g.222919T>G g.172920T>G - - HBA2_000261 - data from Globin Gene Server (HbVar-2), OMIM:var0021, ExPASy_002720, PubMed: Zeng YT - rs63750585 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.10T>C Hb Central Middlesex r.(?) p.(Ser4Pro) Unknown - VUS g.222921T>C g.172922T>C - - HBA2_001577 - data from Globin Gene Server (HbVar-2635), Green B; Henthorn J; Mantio D; HbVar A-2391-2010; - rs281864478 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.11C>A Hb Tallahassee r.(?) p.(Ser4Tyr) Unknown - VUS g.222922C>A g.172923C>A - - HBA2_001998 - Hbvar-?, PubMed: Kutlar F - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.11C>G Hb Teterboro r.(?) p.(Ser4Cys) Unknown - VUS g.222922C>G g.172923C>G - - HBA2_001704 - data from Globin Gene Server (HbVar-2768), Hoyer JD (F-7016-2010); - rs281864556 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.14C>A Hb Bellevue r.(?) p.(Pro5His) Unknown - VUS g.222925C>A g.172926C>A - - HBA2_000543 - data from Globin Gene Server (HbVar-2541), Hoyer JD (F-7016-2010); - rs63750946 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.14C>G Hb Goree r.(?) p.(Pro5Arg) Unknown - VUS g.222925C>G g.172926C>G - - HBA2_001583 - data from Globin Gene Server (HbVar-2643), Francina A (E-3974-2010);Joly P (E-4142-2010); - rs63750946 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.16G>C Hb Karachi r.(?) p.(Ala6Pro) Unknown - VUS g.222927G>C g.172928G>C - - HBA2_000263 - data from Globin Gene Server (HbVar-4), OMIM:var0080, ExPASy_002722, PubMed: Ahmad A - rs281864804 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.17C>A Hb J-Toronto r.(?) p.(Ala6Asp) Unknown - VUS g.222928C>A g.172929C>A - - HBA2_000262 - data from Globin Gene Server (HbVar-3), OMIM:var0078, ExPASy_002721, VAN LAER C.; HbVar A-2391-2010, PubMed: Vella F, PubMed: Crookston JH - rs281864803 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.19G>A Hb Dunn r.(?) p.(Asp7Asn) Unknown - VUS g.222930G>A g.172931G>A - - HBA2_000265 - data from Globin Gene Server (HbVar-6), OMIM:var0029, ExPASy_002725, PubMed: Baklouti, PubMed: Nakatsuji, PubMed: Charache - rs281864806 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.19G>C Hb Galliera II r.(?) p.(Asp7His) Unknown - VUS g.222930G>C g.172931G>C - - HBA2_000551 - data from Globin Gene Server (HbVar-2579), Dagna-Bricarelli F; Forni G; Ivaldi G; Leone D; Parastatidou S; Viaggi C; HbVar A-2391-2010; - rs281864806 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.19G>T Hb Woodville r.(?) p.(Asp7Tyr) Unknown - VUS g.222930G>T g.172931G>T - - HBA2_000267 - data from Globin Gene Server (HbVar-8), OMIM:var0158, ExPASy_002727, PubMed: Como PF - rs281864806 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.19_21del Hb Boyle Heights r.(?) p.(Asp7del) Unknown - VUS g.222930_222932del g.172931_172933del 19_21delGAC - HBA2_000469 - data from Globin Gene Server (HbVar-715), OMIM:var0018, PubMed: Zhao W, PubMed: Johnson CS - rs34623271 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.20A>C Hb Sawara r.(?) p.(Asp7Ala) Unknown - VUS g.222931A>C g.172932A>C - - HBA2_000264 - data from Globin Gene Server (HbVar-5), OMIM:var0128, ExPASy_002723, PubMed: Sasaki, PubMed: Sumida, PubMed: Sumida - rs281864805 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.20A>G Hb Swan River r.(?) p.(Asp7Gly) Unknown - VUS g.222931A>G g.172932A>G - - HBA2_000268 - data from Globin Gene Server (HbVar-9), OMIM:var0145, ExPASy_002724, PubMed: Harano, PubMed: Moo-Penn, PubMed: Como - rs281864805 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.20A>T Hb Ferndown r.(?) p.(Asp7Val) Unknown - VUS g.222931A>T g.172932A>T - - HBA2_000266 - data from Globin Gene Server (HbVar-7), OMIM:var0032, ExPASy_002726, PubMed: Lee-Potter JP - rs281864805 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.22A>C Hb J-Brainerd r.(?) p.(Lys8Gln) Unknown - VUS g.222933A>C g.172934A>C - - HBA2_001710 - data from Globin Gene Server (HbVar-2792), Hoyer JD (F-7016-2010); - rs34817956 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.22A>G Hb Kurosaki r.(?) p.(Lys8Glu) Unknown - VUS g.222933A>G g.172934A>G - - HBA2_000270 - data from Globin Gene Server (HbVar-11), OMIM:var0068, ExPASy_002728, PubMed: Wenning MR, PubMed: Harano T - rs34817956 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.22A>T - r.(?) p.(Lys8*) Unknown - VUS g.222933A>T g.172934A>T Codon 7 Lys>Stop (Alpha 2) - HBA2_001819 - data from Globin Gene Server (HbVar-2903), BAYAT Nooshin (D-7936-2012), PubMed: Bayat N - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.23A>C Hb Nayarit r.(?) p.(Lys8Thr) Unknown - VUS g.222934A>C g.172935A>C - - HBA2_001711 - data from Globin Gene Server (HbVar-2794), Hoyer JD (F-7016-2010); - rs63749921 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.23A>G Hb Guanajuato r.(?) p.(Lys8Arg) Unknown - VUS g.222934A>G g.172935A>G - - HBA2_000561 - data from Globin Gene Server (HbVar-2610), Gallivan (A-9986-2010) - rs63749921 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.24G>C Hb Tatras r.(?) p.(Lys8Asn) Unknown - VUS g.222935G>C g.172936G>C - - HBA2_000269 - data from Globin Gene Server (HbVar-10), OMIM:var0187, PubMed: Wajcman H - rs281860604 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.27del - r.(?) p.(Asn10Thrfs*40) Unknown - VUS g.222938del g.172939del codon 8 (-C); ACC (Thr)>AC- Alpha0, 27delC - HBA2_001765 - data from Globin Gene Server (HbVar-2841), - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.29A>C Hb Broomfield r.(?) p.(Asn10Thr) Unknown - VUS g.222940A>C g.172941A>C - - HBA2_000527 - data from Globin Gene Server (HbVar-1239), Wild B; HbVar A-2391-2010; - rs281860608 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.29A>G Hb Zurich-Hottingen r.(?) p.(Asn10Ser) Unknown - VUS g.222940A>G g.172941A>G - - HBA2_000506 - data from Globin Gene Server (HbVar-1116), Frishknecht H.; Troxler H.; HbVar A-2391-2010, PubMed: Troxler H. - rs281860608 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.30C>A Hb Zhaoqing r.(?) p.(Asn10Lys) Unknown - VUS g.222941C>A g.172942C>A - - HBA2_002042 - Hbvar-?, Anping Xu (K-9299-2018) - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.30C>G Hb Park Ridge r.(?) p.(Asn10Lys) Unknown - VUS g.222941C>G g.172942C>G - - HBA2_000482 - data from Globin Gene Server (HbVar-914), OMIM:var0048, Fairbanks VF; HbVar A-2391-2010, PubMed: Hoyer JD - rs111033604 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.34A>C Hb J-Wenchang-Wuming r.(?) p.(Lys12Gln) Unknown - VUS g.222945A>C g.172946A>C - - HBA2_000272 - data from Globin Gene Server (HbVar-13), OMIM:var0159, PubMed: Wang, PubMed: Qualtieri, PubMed: Zeng, PubMed: Svasti - rs281864808 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.38C>A Hb J-Paris-I r.(?) p.(Ala13Asp) Unknown - VUS g.222949C>A g.172950C>A - - HBA2_000274 - data from Globin Gene Server (HbVar-15), OMIM:var0070, ExPASy_002730, PubMed: Molchanova, PubMed: Dash, PubMed: Niazi - rs281864809 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.40G>C Hb Ravenscourt Park r.(?) p.(Ala14Pro) Unknown - VUS g.222951G>C g.172952G>C - - HBA2_000528 - data from Globin Gene Server (HbVar-1240), Wild B; HbVar A-2391-2010; - rs281860609 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.41C>A Hb Litle Waltham r.(?) p.(Ala14Asp) Unknown - VUS g.222952C>A g.172953C>A - - HBA2_001901 - data from Globin Gene Server (HbVar-3005), - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.41_46del Hb Souli r.(?) p.(Ala14_Trp15del) Unknown - VUS g.222952_222957del g.172953_172958del 40_45delGCCTGG - HBA2_001847 - data from Globin Gene Server (HbVar-2933), KATTAMIS A.; TRAEGER-SYNODINOS J.; HbVar A-2391-2010; - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.44G>T - r.(?) p.(Trp15Leu) Unknown - VUS g.222955G>T g.172956G>T codon 14 (TGG>TTG) - HBA2_001641 - data from Globin Gene Server (HbVar-2737), Barnaby C (E-6612-2010); - rs281864546 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.45G>A - r.(?) p.(Trp15*) Unknown - VUS g.222956G>A g.172957G>A Alpha-2 codon 14 G>A (Trp>Stop) - HBA2_001849 - data from Globin Gene Server (HbVar-2934), Desmond Rogers; Dr Barnaby Clark (G-6612-2010);Matthew Oakley (G-8434-2014);HbVar A-2391-2010; - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.45G>C Hb Bladensburg r.(?) p.(Trp15Cys) Unknown - VUS g.222956G>C g.172957G>C - - HBA2_000552 - data from Globin Gene Server (HbVar-2587), Gallivan (A-9986-2010) - rs63750367 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.46G>C Hb Ottawa r.(?) p.(Gly16Arg) Unknown - VUS g.222957G>C g.172958G>C - - HBA2_000276 - data from Globin Gene Server (HbVar-18), OMIM:var0114, ExPASy_002732, PubMed: Turbpaiboon C, PubMed: Pootrakul S - rs281864811 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.49A>G Hb I r.(?) p.(Lys17Glu) Unknown - VUS g.222960A>G g.172961A>G - - HBA2_000277 - data from Globin Gene Server (HbVar-19), OMIM:var0055, PubMed: Saito, PubMed: Liebhaber, PubMed: Fleming, PubMed: Esan - rs281865555 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.50A>C Hb Boa Esperanca r.(?) p.(Lys17Thr) Unknown - VUS g.222961A>C g.172962A>C - - HBA2_000523 - data from Globin Gene Server (HbVar-1217), PubMed: Jorge SE - rs281864812 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.50A>T Hb Harbin r.(?) p.(Lys17Met) Unknown - VUS g.222961A>T g.172962A>T - - HBA2_000279 - data from Globin Gene Server (HbVar-21), OMIM:var0050, ExPASy_002733, PubMed: Zeng YT - rs281864812 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.52G>T Hb Dapu r.(?) p.(Val18Phe) Unknown - VUS g.222963G>T g.172964G>T - - HBA2_001978 - Hbvar-?, PubMed: Yang Y - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.53T>A Hb Oxford r.(?) p.(Val18Asp) Unknown - VUS g.222964T>A g.172965T>A - - HBA2_001902 - data from Globin Gene Server (HbVar-3006), - - Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+?/. 1 c.55G>C Hb Handsworth r.(?) p.(Gly19Arg) Unknown - VUS g.222966G>C g.172967G>C - - HBA2_000280 - data from Globin Gene Server (HbVar-22), OMIM:var0049, ExPASy_002736, PubMed: Al-Awamy, PubMed: Chih-chuan, PubMed: Griffiths - rs63750294 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
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