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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC28A1
(R147H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SLC28A1
(S546P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
SEC11A, SELENOS
+86 more
Copy number gain
not provided
GPathogenic
ISLR2, MESD
+209 more
Copy number gain
not provided
GPathogenic
SLC24A1, SLC28A1
+310 more
Copy number gain
not provided
GLikely pathogenic
ALPK3, NMB
+6 more
Copy number gain
not provided
GUncertain significance
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