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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
(R82Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(Y208* +2 more)
Single nucleotide variant
(nonsense)
Pelizaeus-Merzbacher disease
+1 more
GLikely pathogenic
PLP1, RAB9B
(C114R +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(V197fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC130068514, PLP1
+6 more
Complex
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(A21P +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(C25F)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(S167C +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(C33F)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 2
+1 more
GUncertain significance
PLP1, RAB9B
(W212R +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
+1 more
GConflicting classifications of pathogenicity
PLP1, RAB9B
(H148Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
PLP1, RAB9B
Single nucleotide variant
(splice donor variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(W126C +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
+1 more
GBenign
BEX2, BEX3
+12 more
Duplication
Pelizaeus-Merzbacher disease
+1 more
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(C7*)
Single nucleotide variant
(nonsense +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
RAB9B, PLP1
(A193E +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(Y58C +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
Gnot provided
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
Gnot provided
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
Gnot provided
PLP1, RAB9B
(F182V +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(C184Y +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(Q44* +1 more)
Single nucleotide variant
(nonsense)
Pelizaeus-Merzbacher disease
GPathogenic
GJC2
(H198fs)
Duplication
(frameshift variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
PLP1, RAB9B
(C35Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
GJC2
Single nucleotide variant
(5 prime UTR variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(S226C +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
+1 more
GUncertain significance
PLP1, RAB9B
(A14D)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
+1 more
GUncertain significance
PLP1, RAB9B
(Q56*)
Single nucleotide variant
(nonsense +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(P173R +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(C220G +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
+1 more
GLikely pathogenic
RAB9B, PLP1
(G65fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 2
+3 more
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(splice donor variant +1 more)
not provided
GPathogenic
PLP1, RAB9B
(M206R +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(Q129fs +1 more)
Deletion
(frameshift variant +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(I47T)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
+1 more
GLikely pathogenic
PLP1, RAB9B
(E59* +1 more)
Single nucleotide variant
(nonsense)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(5 prime UTR variant)
Pelizaeus-Merzbacher disease
+2 more
GBenign/Likely benign
PLP1, RAB9B
(A17T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 2
+3 more
GUncertain significance
PLP1, RAB9B
(M1V)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
+1 more
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(synonymous variant +1 more)
Pelizaeus-Merzbacher disease
+4 more
GBenign/Likely benign
PLP1, RAB9B
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
PLP1, RAB9B
(D57Y)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GPathogenic
H2BW2, IL1RAPL2
+32 more
Duplication
Pelizaeus-Merzbacher disease
GPathogenic
RAB9B, PLP1
(T43I)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(G74R +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
RAB9B, PLP1
(D168H +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(L189P +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 2
GUncertain significance
PLP1, RAB9B
(T147P +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
FAM199X, H2BW1
+16 more
Deletion
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(V184F +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(T121I +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
RAB9B, PLP1
(P15L)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 2
GPathogenic
PLP1, RAB9B
(W128R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RAB9B, PLP1
(P181S +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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