Table 4.

Notable GATA1 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_002049​.4
NP_002040​.1 		c.2T>Cp.Met1Thr 1Pathogenic variants identified in some persons w/features of Diamond-Blackfan anemia [Chen et al 2022, Hasle et al 2022, van Dooijeweert et al 2022]
c.3G>Ap.Met1Ile 1
NM_002049​.4 c.220+1delG--See Genotype-Phenotype Correlations.
c.220+2T>C--
NM_002049​.4
NP_002040​.1 		c.647G>Ap.Arg216GlnAssoc w/beta-thalassemia-like phenotype [Yu et al 2002]
c.919C>Tp.Arg307CysPathogenic variants identified in probands w/hemolytic anemia, mild thrombocytopenia, & reticulocytosis, w/↑ adenosine deaminase & bone marrow erythroid hyperplasia [Hetzer et al 2022, Ludwig et al 2022]
c.920G>Ap.Arg307His

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Pathogenic variant affects initiation codon resulting in lack of full-length DNA.

From: GATA1-Related Cytopenia

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