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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
(G1077fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, classic type, 2
GLikely pathogenic
COL5A2
(A394V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(P220R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
GUncertain significance
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