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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDHD1
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 28
GPathogenic
DDHD1
Deletion
(nonsense)
Hereditary spastic paraplegia 28
GPathogenic
DDHD1
(R589Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 28
GPathogenic
DDHD1
(Q424*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 28
GPathogenic
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