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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNPTAB
(R1189*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
GNPTAB
(S654fs)
Microsatellite
(frameshift variant)
GNPTAB-related disorder
+3 more
GPathogenic