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Links from Gene

Items: 1 to 100 of 203

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130003565, RAB18
(V5L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RAB18
(D68N +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACBD5, ANKRD26
+6 more
Duplication
not provided
GUncertain significance
RAB18
(R112K +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RAB18
(D129A +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ABI1, ACBD5
+20 more
Copy number loss
not specified
GPathogenic
RAB18
Single nucleotide variant
(synonymous variant)
RAB18-related disorder
GLikely benign
RAB18
Single nucleotide variant
(splice acceptor variant +1 more)
RAB18-related disorder
GUncertain significance
RAB18
Single nucleotide variant
(synonymous variant +2 more)
RAB18-related disorder
GLikely benign
RAB18
(N113S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RAB18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAB18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RAB18
(D123fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
RAB18
(Y106C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
(Q67E +1 more)
Single nucleotide variant
(missense variant +2 more)
Warburg micro syndrome 3
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
RAB18
(V120I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RAB18
(P35S)
Single nucleotide variant
(missense variant +1 more)
Warburg micro syndrome 3
GUncertain significance
ABI1, ACBD5
+9 more
Duplication
not provided
GUncertain significance
RAB18
(Y107H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RAB18
(E3Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RAB18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RAB18
(N137S)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
RAB18
(K155N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
(T29P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RAB18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
RAB18
(D31E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
RAB18
(I61M)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 3
+1 more
GUncertain significance
RAB18
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACBD5, ANKRD26
+9 more
Copy number loss
not provided
GPathogenic
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
RAB18
(S151N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RAB18
(T32M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RAB18
Single nucleotide variant
(intron variant)
not provided
GBenign
RAB18
Microsatellite
(intron variant)
not provided
GBenign
RAB18
Single nucleotide variant
(intron variant)
not provided
GBenign
RAB18
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC130003564, RAB18
Single nucleotide variant
not provided
GBenign
RAB18
Deletion
(intron variant)
not provided
GBenign
RAB18
Deletion
(intron variant)
Warburg micro syndrome 3
+1 more
GBenign
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
(I50V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
Single nucleotide variant
not provided
GLikely benign
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
(I41V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MASTL, MKX
+7 more
Copy number loss
not provided
GUncertain significance
RAB18
(G120fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GBenign
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
+1 more
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GBenign
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GLikely benign
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GBenign
LOC130003564, RAB18
Single nucleotide variant
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GBenign
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
+1 more
GConflicting classifications of pathogenicity
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GLikely benign
RAB18
Single nucleotide variant
(3 prime UTR variant +1 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
(E188K)
Single nucleotide variant
(3 prime UTR variant +2 more)
Warburg micro syndrome 3
GUncertain significance
RAB18
(R170Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Warburg micro syndrome 3
GUncertain significance
MKX, RAB18
+7 more
Copy number gain
not provided
GUncertain significance
RAB18
(P132L)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
RAB18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RAB18
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
RAB18
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
RAB18
(K145R)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
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