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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL10A1, NT5DC1
(E438K)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(D128N)
Single nucleotide variant
(missense variant +1 more)
COL10A1-related condition
+2 more
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(intron variant)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign
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