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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
(G530S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+8 more
GBenign/Likely benign
COL5A1, LOC101448202
(C1639S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GPathogenic