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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYCR2
(R17P)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
PYCR2
(V119M +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(F176V +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
PYCR2
(A113T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYCR2
(V104fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYCR2
(Q152* +1 more)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(R119fs)
Duplication
(frameshift variant +1 more)
Hypomyelinating leukodystrophy 10
GPathogenic
PYCR2
(A14P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYCR2
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 10
+1 more
GBenign
PYCR2
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 10
+1 more
GBenign
PYCR2
(Q152H +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
PYCR2
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 10
GUncertain significance
PYCR2
(R177H +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
+1 more
GConflicting classifications of pathogenicity
PYCR2
(Y135fs)
Microsatellite
(frameshift variant +1 more)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(V134M)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(V86G)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(G177R)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PYCR2
Single nucleotide variant
(splice donor variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
Single nucleotide variant
(splice acceptor variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(R119H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
PYCR2
(R54C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PYCR2
(L180fs +1 more)
Microsatellite
(frameshift variant)
Hypomyelinating leukodystrophy 10
+1 more
GPathogenic/Likely pathogenic
PYCR2
(C232G +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GPathogenic
PYCR2
(R199W +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(V184A +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GLikely pathogenic
PYCR2
(R266* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PYCR2
(R251C +1 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 10
GPathogenic
PYCR2
(R119C)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 10
GPathogenic/Likely pathogenic
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