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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1L1
(T2635M)
Single nucleotide variant
(missense variant)
PKHD1L1-related disorder
GLikely benign
PKHD1L1
(R3279C)
Single nucleotide variant
(missense variant)
PKHD1L1-related disorder
GLikely benign