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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RALGAPA1
(S1911* +4 more)
Single nucleotide variant
(nonsense)
Infantile spasms
+3 more
GPathogenic
RALGAPA1
(F1711fs +4 more)
Deletion
(frameshift variant)
Infantile spasms
+3 more
GPathogenic
RALGAPA1
(N1535S +4 more)
Single nucleotide variant
(missense variant)
Infantile spasms
+3 more
GPathogenic
RALGAPA1
(R376*)
Single nucleotide variant
(nonsense)
Infantile spasms
+3 more
GPathogenic
RALGAPA1
(E204*)
Single nucleotide variant
(nonsense)
Infantile spasms
+3 more
GPathogenic
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