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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA1
(T296P)
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GPathogenic
GATA1
(A227T)
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GUncertain significance
GATA1
(H289Y)
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GPathogenic
GATA1
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+5 more
GBenign/Likely benign
GATA1
(R298Q)
Single nucleotide variant
(missense variant)
Complete trisomy 21 syndrome
+5 more
GUncertain significance
GATA1
(S12*)
Single nucleotide variant
(nonsense)
Complete trisomy 21 syndrome
+6 more
GPathogenic/Likely pathogenic
GATA1
(K315R)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+5 more
GUncertain significance
GATA1
(D218N)
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
+1 more
GConflicting classifications of pathogenicity
GATA1
(V32I)
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
+6 more
GConflicting classifications of pathogenicity
GATA1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
GATA1
Single nucleotide variant
(stop lost)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GLikely pathogenic
GATA1
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Gnot provided
GATA1
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+1 more
GPathogenic
GATA1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
+1 more
GPathogenic
GATA1
Single nucleotide variant
(missense variant)
GATA1-related condition
+1 more
GLikely pathogenic
GATA1
Deletion
(splice donor variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
+4 more
GPathogenic
GATA1
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with dyserythropoietic anemia
GPathogenic
GATA1
(G208S)
Indel
(missense variant)
Thrombocytopenia, X-linked, without dyserythropoietic anemia
GPathogenic
GATA1
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
+1 more
GPathogenic/Likely pathogenic
GATA1
Single nucleotide variant
(missense variant)
Thrombocytopenia, X-linked, with dyserythropoietic anemia
GPathogenic
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