U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDXK
(R130Q +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
GUncertain significance
PDXK
Single nucleotide variant
(intron variant)
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
GBenign
PDXK
Single nucleotide variant
(synonymous variant)
PDXK-related condition
+2 more
GBenign
PDXK
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDXK
(S125L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PDXK
(N35K +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
GLikely pathogenic
PDXK
(R220Q +1 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
GPathogenic
PDXK
(A228T +1 more)
Single nucleotide variant
(missense variant)
PDXK-related condition
GPathogenic
Format
Items per page
Sort by
Choose Destination