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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
(Y340*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic type, 1
GPathogenic
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
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