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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBEAL2
(R352G +1 more)
Single nucleotide variant
(missense variant)
Gray platelet syndrome
GUncertain significance
NBEAL2
(D1143N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NBEAL2
Single nucleotide variant
(intron variant)
Gray platelet syndrome
GUncertain significance
NBEAL2
(K1475R +1 more)
Single nucleotide variant
(missense variant)
Gray platelet syndrome
GUncertain significance
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