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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
(P962S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
+1 more
GConflicting classifications of pathogenicity
COL5A2
(G945R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
GLikely pathogenic
COL5A2
(S451F)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
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