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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DBNL, LOC129998341
+1 more
(R162W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
DBNL, PGAM2
(A104T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DBNL, PGAM2
(R90W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
DBNL, LOC129998343
+1 more
(W78*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen storage disease type X
+1 more
GPathogenic/Likely pathogenic
DBNL, LOC129998343
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
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