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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A1
(A63T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GBenign
COL5A1
(R594Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(R630W)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL5A1
(Q879K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GConflicting classifications of pathogenicity
COL5A1
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely pathogenic
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