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Links from OMIM

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMFR
Deletion
(splice acceptor variant +1 more)
Spastic paraplegia 89, autosomal recessive
GPathogenic
AMFR
(L197fs +1 more)
Duplication
(frameshift variant)
Spastic paraplegia 89, autosomal recessive
GPathogenic
AMFR
(W123* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia 89, autosomal recessive
GPathogenic
AMFR, LOC130059041
(W85*)
Single nucleotide variant
(nonsense)
Spastic paraplegia 89, autosomal recessive
GPathogenic
AMFR, LOC130059041
(F5fs)
Deletion
(frameshift variant)
Spastic paraplegia 89, autosomal recessive
GPathogenic
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