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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNRNPK, HNRNPK-AS1
(L155P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HNRNPK, HNRNPK-AS1
(R86H)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
GPathogenic/Likely pathogenic