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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAX1
(D33E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
HAX1
(P54A)
Single nucleotide variant
(missense variant +1 more)
Kostmann syndrome
+1 more
GUncertain significance
HAX1
(E60D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HAX1
(F61S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
HAX1
(F33V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(R38Q +1 more)
Single nucleotide variant
(missense variant)
Kostmann syndrome
+1 more
GUncertain significance
HAX1
(V144fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic
HAX1
(G142W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(G143A +1 more)
Single nucleotide variant
(missense variant)
Kostmann syndrome
+2 more
GUncertain significance
HAX1
(P154S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(W112G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(R226C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HAX1
(R187Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HAX1
(R242Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HAX1
(E196K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(G251S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(P253T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HAX1
(D262E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(F223L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HAX1
(R226H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAX1
(R277W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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