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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM110C
(A231P)
Single nucleotide variant
(missense variant)
Streaky metaphyseal sclerosis
+1 more
GPathogenic
FAM110C
(E230D)
Single nucleotide variant
(missense variant)
Streaky metaphyseal sclerosis
+1 more
GPathogenic
TUBB8
Single nucleotide variant
(5 prime UTR variant +1 more)
Streaky metaphyseal sclerosis
+1 more
Gnot provided
DIP2C
Single nucleotide variant
(intron variant)
Streaky metaphyseal sclerosis
+1 more
Gnot provided
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