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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862326, NUPR1
(G97E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862326, NUPR1
(R75S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862326, NUPR1
(E74K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862326, NUPR1
(E63K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862326, NUPR1
(R45C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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