U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYCR2
(F176V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
PYCR2
(R199W +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(R119fs)
Duplication
(frameshift variant +1 more)
Hypomyelinating leukodystrophy 10
GPathogenic
PYCR2
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(R17P)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
Format
Sort by
Choose Destination