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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IER3IP1
(R57Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
IER3IP1
Single nucleotide variant
(synonymous variant)
Microcephaly, epilepsy, and diabetes syndrome
+3 more
GBenign/Likely benign
IER3IP1, LOC130062441
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
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