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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PD, IKBKG
+1 more
(V7M)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
G6PD, IKBKG
+1 more
(I36fs)
Deletion
(frameshift variant +2 more)
Inborn genetic diseases
GUncertain significance
G6PD, IKBKG
(H32R +1 more)
Single nucleotide variant
(missense variant +1 more)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
+4 more
GPathogenic/Likely pathogenic
G6PD, IKBKG
(G53V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IKBKG
(E97Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IKBKG
(R62Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
IKBKG
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GPathogenic
IKBKG
(E354K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
IKBKG
(A248P +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IKBKG
(A328G +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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