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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAK1, LOC126805749
(M641T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
JAK1, LOC126805749
(A634D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic