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Links from Gene

Items: 1 to 100 of 609

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB7, ABCD1
+526 more
Duplication
Hereditary factor VIII deficiency disease
GUncertain significance
PLP1, RAB9B
(G23R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLP1, RAB9B
(I121V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(G35S +1 more)
Single nucleotide variant
(missense variant)
PLP1-related disorder
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(intron variant)
PLP1-related disorder
GUncertain significance
PLP1, RAB9B
Duplication
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(synonymous variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Indel
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L142fs +1 more)
Duplication
(frameshift variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(A140D +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(F32L)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L46P)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
RAB9B, PLP1
(L31R)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(stop lost)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(stop lost)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L199P +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(S198F +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
RAB9B, PLP1
(L196P +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(G191W +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(F189V +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
RAB9B, PLP1
(A188V +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(A188E +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GUncertain significance
RAB9B, PLP1
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(S171P +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(C165R +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(G42D)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
RAB9B, PLP1
(V164G +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(F160fs +2 more)
Deletion
(frameshift variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L155F +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
RAB9B, PLP1
(Y152H +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(Y152N +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(R150fs +2 more)
Deletion
(frameshift variant)
Pelizaeus-Merzbacher disease
GPathogenic
RAB9B, PLP1
(L19P)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(T41P)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(P118S +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(S18fs)
Deletion
(frameshift variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L104P +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(V118fs +2 more)
Deletion
(frameshift variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(K151N +1 more)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L40H)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(K144* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(E38del)
Deletion
(inframe_deletion +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(V138fs +1 more)
Deletion
(frameshift variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(Q129* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(synonymous variant +1 more)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(S126F +1 more)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(G120fs +1 more)
Deletion
(frameshift variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(T116K +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(M1K)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(G40fs +1 more)
Deletion
(frameshift variant)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(L32P +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L30R +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(L26R +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(S22Y +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(C35*)
Single nucleotide variant
(nonsense +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Duplication
(inframe_insertion)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(T20P +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(G19E +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
RAB9B, PLP1
(V16D +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
RAB9B, PLP1
(Q14L +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
RAB9B, PLP1
Single nucleotide variant
(intron variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(F51V)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(C35R)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(I17L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 2
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(splice acceptor variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(Q130fs +2 more)
Deletion
(frameshift variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(E136fs +1 more)
Deletion
(frameshift variant +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1, RAB9B
(R127fs +1 more)
Deletion
(frameshift variant +1 more)
Pelizaeus-Merzbacher disease
GPathogenic
PLP1
Duplication
Hereditary spastic paraplegia 2
GUncertain significance
PLP1
Duplication
Hereditary spastic paraplegia 2
GUncertain significance
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
PLP1, RAB9B
(A41T +1 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance
PLP1, RAB9B
(V138A +1 more)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
+1 more
GUncertain significance
PLP1, RAB9B
(E177K +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(G153V +2 more)
Single nucleotide variant
(missense variant)
Auditory neuropathy spectrum disorder
GPathogenic
PLP1, RAB9B
(H133L +1 more)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
+1 more
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(intron variant)
PLP1-related disorder
GLikely benign
PLP1, RAB9B
(P118T +2 more)
Single nucleotide variant
(missense variant)
PLP1-related disorder
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(intron variant)
PLP1-related disorder
GLikely benign
PLP1, RAB9B
(G28E)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
GLikely pathogenic
CT47A5, NXF3
+488 more
Copy number gain
not provided
GPathogenic
PLP1, RAB9B
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
(F178C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 2
GUncertain significance
PLP1, RAB9B
(G28E +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 2
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
Duplication
(intron variant)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 2
GLikely benign
PLP1, RAB9B
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 2
GLikely benign
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