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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107372315, OSGEP
(F40L)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic
OSGEP
(C292Y)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GUncertain significance
OSGEP
(F238fs)
Microsatellite
(frameshift variant)
Galloway-Mowat syndrome 3
GUncertain significance
OSGEP
(G187V)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic
OSGEP
(G122V)
Single nucleotide variant
Galloway-Mowat syndrome 3
GLikely pathogenic
OSGEP
(Q255*)
Single nucleotide variant
(nonsense)
Galloway-Mowat syndrome 3
+1 more
GUncertain significance
OSGEP
(A184T)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GUncertain significance
OSGEP
(R280L)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic
OSGEP
(S232Y)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic
LOC107372315, OSGEP
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
OSGEP
Single nucleotide variant
(intron variant)
Galloway-Mowat syndrome 3
+1 more
GBenign
LOC107372315, OSGEP
Single nucleotide variant
(synonymous variant)
Galloway-Mowat syndrome 3
+1 more
GBenign
OSGEP
Single nucleotide variant
(synonymous variant)
Galloway-Mowat syndrome 3
+1 more
GBenign
OSGEP
Single nucleotide variant
(intron variant)
Galloway-Mowat syndrome 3
+1 more
GBenign
OSGEP
(G281R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC107372315, OSGEP
(G106V)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GUncertain significance
OSGEP
(R186*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
LOC107372315, OSGEP
(N27K)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic
LOC107372315, OSGEP
(I53F)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic
OSGEP
(M298L)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GUncertain significance
OSGEP, LOC107372315
(V107M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
OSGEP
(R325W)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
+2 more
GConflicting classifications of pathogenicity
OSGEP
(R247Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
OSGEP
(R280C)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
+2 more
GLikely pathogenic
LOC107372315, OSGEP
(I111T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
OSGEP
(R280H)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GPathogenic
LOC107372315, OSGEP
(I14F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
OSGEP
(G177A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC107372315, OSGEP
(C110R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
OSGEP
(R325Q)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome
GPathogenic
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