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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1S
(M1T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Ehlers-Danlos syndrome, periodontal type 2
GLikely pathogenic
C1S
(N116S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(G243R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1S
(S172A +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 2
GUncertain significance
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