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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
(D1356G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome type 7A
+6 more
GConflicting classifications of pathogenicity
COL5A2
(A1076P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance