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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPHN, PALS1
(R12M +1 more)
Single nucleotide variant
(missense variant)
PALS1-related disorder
GUncertain significance
GPHN, PALS1
(E173A +1 more)
Single nucleotide variant
(missense variant)
PALS1-related disorder
GLikely benign
GPHN, PALS1
(D363E +1 more)
Single nucleotide variant
(missense variant)
PALS1-related disorder
GUncertain significance
GPHN, PALS1
(T607A +1 more)
Single nucleotide variant
(missense variant)
PALS1-related disorder
GUncertain significance
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