Table 8. [HBB Pathogenic Variants Referenced in This GeneReview]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change (Alias ¹)	Predicted Protein Change ² (Alias ¹)	Comment [Reference]
NM_000518.5	c.-151C>T (-101C>T)	--	Silent β⁺ variant (See Genotype-Phenotype Correlations.)
c.-142C>T (-92C>T)	--
c.-140C>T (-90C>T)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.)
c.-138C>A (-88C>A)	--
c.-138C>T (-88C>T)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.) One of 6 common pathogenic variants in African & African American populations ³
c.-137C>A (-87C>A)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.)
c.-137C>G (-87C>G)	--
c.-137C>T (-87C>T)	--
c.-136C>G (-86C>G)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.) One of 6 common pathogenic variants in Mediterranean population ⁴
c.-136C>T (-86C>T)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.)
c.-81A>G (-31A>G)	--
c.-80T>A (-30T>A)	--
c.-79A>G (-29A>G)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.) One of 6 common pathogenic variants in African & African American populations ³
c.-78A>G (-28A>G)	--	One of 4 common pathogenic variants in Chinese population ⁴ One of 6 common pathogenic variants in Taiwanese population ⁴
c.-50A>C (+1A>C)		Silent β⁺ variant (See Genotype-Phenotype Correlations.)
c.-41del>T (+10delT)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.)
c.-29G>A (+22G>A)	--
c.-18C>G (+33C>G)	--
NM_000518.5 NP_000509.1	c.20delA	p.Glu7GlyfsTer13 (Glu6GlyfsTer12)	Mild β⁰ variant (See Genotype-Phenotype Correlations.)
c.25_26delAA	p.Lys9ValfsTer14 (Lys8ValfsTer13)	Mild β⁰ variant (See Genotype-Phenotype Correlations.) One of 6 common pathogenic variants in Middle Eastern population ⁴
c.27dupG	p.Ser10ValfsTer14 (Ser9ValfsTer13)	One of 6 common pathogenic variants in Middle Eastern population ⁴
c.52A>T	p.Lys18Ter (Lys17Ter)	One of 4 common pathogenic variants in Chinese population ⁴ One of 6 common pathogenic variants in Taiwanese population ⁴
c.59A>G	p.Asn20Ser (Asn19Ser)	Hb Malay Mild β⁺ variant (See Genotype-Phenotype Correlations.) One of 6 common pathogenic variants in Taiwanese population ⁴
NM_000518.5	c.75T>A (IVS1-18T>A)	See footnote 5.	Mild β⁺ variant (See Genotype-Phenotype Correlations.) One of 6 common pathogenic variants in African & African American populations ³
NM_000518.5 NP_000509.1	c.82G>T	p.Ala28Ser (Ala27Ser)	Hb Knossos Silent β⁺ variant (See Genotype-Phenotype Correlations.)
NM_000518.5	c.93-21G>A (IVS1-21G>A)	--	One of 6 common pathogenic variants in Mediterranean population ⁴
c.92+1G>A (IVS1+1G>A)	--
c.92+5G>C (IVS1+5G>C)	--	One of 6 common pathogenic variants in African & African American populations ³ One of 6 common pathogenic variants in Middle Eastern & Taiwanese populations ⁴
c.92+6T>C (IVS1+6T>C)	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.) One of 6 common pathogenic variants in Mediterranean population ⁴
NM_000518.5 NP_000509.1	c.118C>T	p.Gln40Ter (Gln39Ter)	One of 6 common pathogenic variants in Mediterranean & Middle Eastern populations ⁴
c.126_129delCTTT	p.Phe42LeufsTer19	One of 4 common pathogenic variants in Chinese population ⁴ One of 6 common pathogenic variants in Taiwanese population ⁴
c.135delC	p.Phe46LeufsTer16 (Phe45LeufsTer15)	One of 6 common pathogenic variants in Middle Eastern population ⁴
NM_000518.5	c.316-197C>T (IVS2+654C>T)	--	One of 4 common pathogenic variants in Chinese population ⁴ One of 6 common pathogenic variants in Taiwanese population ⁴
c.316-106C>G (IVS2+745C>G)	--	One of 6 common pathogenic variants in Mediterranean population ⁴
c.316-7C>G (IVS2-7C>G)		Mild β⁺ variant (See Genotype-Phenotype Correlations.)
c.316-2A>G (IVS2-2A>G)	--	One of 6 common pathogenic variants in African & African American populations ³
c.316-2A>C (IVS2-2A>C)	--
c.315+1G>A (IVS2+1G>A)	--	One of 6 common pathogenic variants in Middle Eastern population ⁴
c.*6C>G	--	Silent β⁺ variant (See Genotype-Phenotype Correlations.)
c.*110T>C	--	Mild β⁺ variant (See Genotype-Phenotype Correlations.)
c.*111A>G	--
c.*113A>G	--	Silent β⁺ variant (See Genotype-Phenotype Correlations.)

Reference Sequences

DNA Nucleotide Change
(Alias ¹)

Predicted Protein Change ²
(Alias ¹)

Comment [Reference]

NM_000518.5

c.-151C>T
(-101C>T)

Silent β⁺ variant (See Genotype-Phenotype Correlations.)

c.-142C>T
(-92C>T)

c.-140C>T
(-90C>T)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)

c.-138C>A
(-88C>A)

c.-138C>T
(-88C>T)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)
One of 6 common pathogenic variants in African & African American populations ³

c.-137C>A
(-87C>A)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)

c.-137C>G
(-87C>G)

c.-137C>T
(-87C>T)

c.-136C>G
(-86C>G)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)
One of 6 common pathogenic variants in Mediterranean population ⁴

c.-136C>T
(-86C>T)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)

c.-81A>G
(-31A>G)

c.-80T>A
(-30T>A)

c.-79A>G
(-29A>G)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)
One of 6 common pathogenic variants in African & African American populations ³

c.-78A>G
(-28A>G)

One of 4 common pathogenic variants in Chinese population ⁴
One of 6 common pathogenic variants in Taiwanese population ⁴

c.-50A>C
(+1A>C)

Silent β⁺ variant (See Genotype-Phenotype Correlations.)

c.-41del>T
(+10delT)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)

c.-29G>A
(+22G>A)

c.-18C>G
(+33C>G)

NM_000518.5
NP_000509.1

c.20delA

p.Glu7GlyfsTer13
(Glu6GlyfsTer12)

Mild β⁰ variant (See Genotype-Phenotype Correlations.)

c.25_26delAA

p.Lys9ValfsTer14
(Lys8ValfsTer13)

Mild β⁰ variant (See Genotype-Phenotype Correlations.)
One of 6 common pathogenic variants in Middle Eastern population ⁴

c.27dupG

p.Ser10ValfsTer14
(Ser9ValfsTer13)

One of 6 common pathogenic variants in Middle Eastern population ⁴

c.52A>T

p.Lys18Ter
(Lys17Ter)

One of 4 common pathogenic variants in Chinese population ⁴
One of 6 common pathogenic variants in Taiwanese population ⁴

c.59A>G

p.Asn20Ser
(Asn19Ser)

Hb Malay
Mild β⁺ variant (See Genotype-Phenotype Correlations.)
One of 6 common pathogenic variants in Taiwanese population ⁴

NM_000518.5

c.75T>A
(IVS1-18T>A)

See footnote 5.

Mild β⁺ variant (See Genotype-Phenotype Correlations.)
One of 6 common pathogenic variants in African & African American populations ³

NM_000518.5
NP_000509.1

c.82G>T

p.Ala28Ser
(Ala27Ser)

Hb Knossos
Silent β⁺ variant (See Genotype-Phenotype Correlations.)

NM_000518.5

c.93-21G>A
(IVS1-21G>A)

One of 6 common pathogenic variants in Mediterranean population ⁴

c.92+1G>A
(IVS1+1G>A)

c.92+5G>C
(IVS1+5G>C)

One of 6 common pathogenic variants in African & African American populations ³
One of 6 common pathogenic variants in Middle Eastern & Taiwanese populations ⁴

c.92+6T>C
(IVS1+6T>C)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)
One of 6 common pathogenic variants in Mediterranean population ⁴

NM_000518.5
NP_000509.1

c.118C>T

p.Gln40Ter
(Gln39Ter)

One of 6 common pathogenic variants in Mediterranean & Middle Eastern populations ⁴

c.126_129delCTTT

p.Phe42LeufsTer19

One of 4 common pathogenic variants in Chinese population ⁴
One of 6 common pathogenic variants in Taiwanese population ⁴

c.135delC

p.Phe46LeufsTer16
(Phe45LeufsTer15)

One of 6 common pathogenic variants in Middle Eastern population ⁴

NM_000518.5

c.316-197C>T
(IVS2+654C>T)

One of 4 common pathogenic variants in Chinese population ⁴
One of 6 common pathogenic variants in Taiwanese population ⁴

c.316-106C>G
(IVS2+745C>G)

One of 6 common pathogenic variants in Mediterranean population ⁴

c.316-7C>G
(IVS2-7C>G)

Mild β⁺ variant (See Genotype-Phenotype Correlations.)

c.316-2A>G
(IVS2-2A>G)

One of 6 common pathogenic variants in African & African American populations ³

c.316-2A>C
(IVS2-2A>C)

c.315+1G>A
(IVS2+1G>A)

One of 6 common pathogenic variants in Middle Eastern population ⁴

c.*6C>G

Silent β⁺ variant (See Genotype-Phenotype Correlations.)

c.*110T>C

Mild β⁺ variant (See Genotype-Phenotype Correlations.)

c.*111A>G

c.*113A>G

Silent β⁺ variant (See Genotype-Phenotype Correlations.)

From: Beta-Thalassemia

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