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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPK1
(Y254C +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
GPathogenic
ALPK1
Single nucleotide variant
(intron variant)
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
GUncertain significance
ALPK1
(L1024fs +1 more)
Duplication
(frameshift variant)
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
GUncertain significance
ALPK1
(T237M +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
+1 more
GPathogenic
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