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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNHG22, LOC126862745
+1 more
(E1414K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cholestasis, progressive familial intrahepatic, 10
+2 more
GConflicting classifications of pathogenicity
MYO5B
(L333F)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 10
GUncertain significance
LOC130062487, MYO5B
Single nucleotide variant
(5 prime UTR variant)
Congenital microvillous atrophy
+1 more
GConflicting classifications of pathogenicity
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