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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPLA6
(G578W +3 more)
Single nucleotide variant
(missense variant)
Ataxia-hypogonadism-choroidal dystrophy syndrome
GPathogenic
PNPLA6
(R1031fs +3 more)
Duplication
(frameshift variant)
PNPLA6-related disorders
+7 more
GPathogenic
PNPLA6
(S1035L +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 39
GPathogenic
PNPLA6
(M1012V +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 39
GPathogenic
PNPLA6
(R1099Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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