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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130009337, SAP18
(G5E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
LOC130009337, SAP18
(Q9R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
LOC130009337, SAP18
(E11D)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
LOC130009337, SAP18
(R12S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
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