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Links from MedGen

Items: 1 to 100 of 269

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB27A
(R50fs)
Deletion
(frameshift variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(F12S)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(A87S)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
Single nucleotide variant
(splice donor variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(F38L)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(K144R)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(Y155*)
Single nucleotide variant
(nonsense)
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(I170fs)
Deletion
(frameshift variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
Deletion
(splice donor variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(A87T)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(W113R)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
CCPG1, DNAAF4
+3 more
Duplication
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
+1 more
GLikely benign
RAB27A
(D74H)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
Single nucleotide variant
(splice acceptor variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(V143A)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
(Y159C)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
(C221Y)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(T207fs)
Duplication
(frameshift variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(V198L)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(D31N)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(E213fs)
Deletion
(frameshift variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(D91E)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(T85M)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(M119V)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(R50fs)
Deletion
(frameshift variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Deletion
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(A61P)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(G77R)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
(D190N)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(C123Y)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(I181K)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(splice donor variant)
Griscelli syndrome type 2
+1 more
GPathogenic
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
+1 more
GConflicting classifications of pathogenicity
RAB27A
Duplication
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(F46I)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
GUncertain significance
RAB27A
(K134E)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(R200*)
Single nucleotide variant
(nonsense)
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(I44V)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
+1 more
GUncertain significance
RAB27A
(R80T)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(I149V)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(Q209H)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(D17N)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(T41P)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GLikely pathogenic
RAB27A
(D127N)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
PIGB, RAB27A
Deletion
Griscelli syndrome type 2
GPathogenic
RAB27A
(K154*)
Single nucleotide variant
(nonsense)
Griscelli syndrome type 2
GPathogenic
RAB27A
(A152T)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(E212D)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(I114V)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(N112fs)
Deletion
(frameshift variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(A76V)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(F99L)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(E147del)
Microsatellite
(inframe_deletion)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(intron variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(N103H)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
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