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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
(T378P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance