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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B
Single nucleotide variant
(synonymous variant)
ARID1B-related condition
+5 more
GPathogenic/Likely pathogenic
FAM111A
(Q122*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
PTPN11
(R501K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GPathogenic
MT-TL1
Single nucleotide variant
Glucose intolerance
+12 more
GPathogenic/Likely pathogenic
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