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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OR10Z1, SPTA1
(G2400fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
OR10Z1, SPTA1
(D2397N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
(Q2394fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
OR10Z1, SPTA1
(C2388Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
Indel
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
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