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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1S
(I95V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(I132V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
C1S
(G243R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1S
(D108Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1S
(R534W +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 2
+2 more
GUncertain significance
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