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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELP1
Single nucleotide variant
(intron variant)
Familial dysautonomia
+3 more
GPathogenic
ELP1
(R696P +2 more)
Single nucleotide variant
(missense variant)
Familial dysautonomia
+2 more
GPathogenic/Likely pathogenic