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Links from MedGen

Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB3GAP1
(F331L)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(splice acceptor variant)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(P416fs)
Deletion
(frameshift variant)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(C181fs)
Duplication
(frameshift variant)
Warburg micro syndrome 1
GLikely pathogenic
RAB3GAP1
Deletion
(inframe_indel +1 more)
Warburg micro syndrome 1
GLikely pathogenic
RAB3GAP1
Copy number loss
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(Y951* +1 more)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(W481fs)
Microsatellite
(frameshift variant)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(R392*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RAB3GAP1
(L798fs)
Microsatellite
(frameshift variant)
Warburg micro syndrome 1
GLikely pathogenic
RAB3GAP1
Deletion
(nonsense)
not provided
+1 more
GPathogenic
RAB3GAP1
(G88fs)
Deletion
(frameshift variant)
Warburg micro syndrome 1
+1 more
GConflicting classifications of pathogenicity
RAB3GAP1
(S400*)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
GLikely pathogenic
RAB3GAP1
Indel
(nonsense)
Warburg micro syndrome 1
GPathogenic
LOC111562379, SNORA40B
+2 more
Deletion
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(Q518*)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(K459R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GBenign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(intron variant)
Warburg micro syndrome 1
+1 more
GUncertain significance
RAB3GAP1
(R530C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAB3GAP1
Single nucleotide variant
(synonymous variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(H385D)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(T944N +1 more)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(P934T +1 more)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(T284A)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GBenign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(R847Q)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(F12S)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(5 prime UTR variant)
RAB3GAP1-related disorder
+2 more
GConflicting classifications of pathogenicity
RAB3GAP1
(R187*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RAB3GAP1
Single nucleotide variant
(splice acceptor variant)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(P934A +1 more)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
+1 more
GBenign
RAB3GAP1
(Y636*)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
+1 more
GPathogenic
RAB3GAP1
(E831*)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
Single nucleotide variant
(splice acceptor variant)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(L829*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
RAB3GAP1
(G157*)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(S437*)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(P963fs +1 more)
Insertion
(frameshift variant)
Warburg micro syndrome 1
Gnot provided
RAB3GAP1
(R347*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
RAB3GAP1
(R187P)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
Gnot provided
RAB3GAP1
(K144*)
Duplication
(nonsense)
Warburg micro syndrome 1
GPathogenic/Likely pathogenic
RAB3GAP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
RAB3GAP1
Single nucleotide variant
(stop lost)
not provided
+3 more
GUncertain significance
RAB3GAP1
(R947C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
RAB3GAP1
(I211fs)
Insertion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RAB3GAP1
(P423R)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
+1 more
GConflicting classifications of pathogenicity
RAB3GAP1
(R778Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GBenign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GBenign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GBenign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GBenign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
+1 more
GLikely benign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
Warburg micro syndrome 1
GLikely benign
RAB3GAP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RAB3GAP1
(R759W)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
+1 more
GUncertain significance
RAB3GAP1
Single nucleotide variant
(synonymous variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(L561V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAB3GAP1
(P436L)
Single nucleotide variant
(missense variant)
RAB3GAP1-related disorder
+2 more
GLikely benign
RAB3GAP1
(R392Q)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
Single nucleotide variant
(synonymous variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(I360T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RAB3GAP1
(F350L)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(R315Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAB3GAP1
Single nucleotide variant
(synonymous variant)
Warburg micro syndrome 1
+2 more
GConflicting classifications of pathogenicity
RAB3GAP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
RAB3GAP1
(V80A)
Single nucleotide variant
(missense variant)
RAB3GAP1-related disorder
+2 more
GConflicting classifications of pathogenicity
RAB3GAP1
(E32K)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
GUncertain significance
RAB3GAP1
(L881*)
Single nucleotide variant
(nonsense)
Warburg micro syndrome 1
GPathogenic
RAB3GAP1
(R336C)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 1
+2 more
GBenign/Likely benign
RAB3GAP1
(R337*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
RAB3GAP1
(I305V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
RAB3GAP1
(L223F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
RAB3GAP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
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