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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRTAP, LOC129936436
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 7
GLikely benign
CRTAP
(L151V)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+2 more
GUncertain significance
CRTAP
(E195K)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
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