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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(E397*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, type 4
GLikely pathogenic
COL3A1
(E835Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance