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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A1, LOC126805814
(A1770V +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GUncertain significance
COL11A1, LOC126805814
(R1745H +3 more)
Single nucleotide variant
(missense variant +1 more)
COL11A1-related condition
+5 more
GConflicting classifications of pathogenicity
LOC126805814, COL11A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
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