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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SKIC2
(R606C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SKIC2
(R828H)
Single nucleotide variant
(missense variant)
Trichohepatoenteric syndrome 2
+1 more
GConflicting classifications of pathogenicity
SKIC2
(M1084I)
Single nucleotide variant
(missense variant)
Trichohepatoenteric syndrome 2
+2 more
GConflicting classifications of pathogenicity
SKIC2
(R1208C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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