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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A2
(D1618E +2 more)
Single nucleotide variant
(missense variant)
Fibrochondrogenesis 1
+6 more
GConflicting classifications of pathogenicity
COL11A2
(A974V +2 more)
Single nucleotide variant
(missense variant)
Fibrochondrogenesis 2
+5 more
GConflicting classifications of pathogenicity
COL11A2
(R539W +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
COL11A2
(P289S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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