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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP5
Deletion
Familial exudative vitreoretinopathy
GPathogenic
LRP5
Single nucleotide variant
(splice donor variant)
Familial exudative vitreoretinopathy
+1 more
GLikely pathogenic
FZD4
(V17A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF408
(L566H +1 more)
Single nucleotide variant
(missense variant)
Familial exudative vitreoretinopathy
GPathogenic
ZNF408
(S384P +1 more)
Single nucleotide variant
(missense variant)
Familial exudative vitreoretinopathy
GLikely pathogenic
FZD4, PRSS23
(C117R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial exudative vitreoretinopathy
GLikely pathogenic
FZD4
(P14fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
LRP5
(L1081R +1 more)
Single nucleotide variant
(missense variant)
Familial exudative vitreoretinopathy
GLikely pathogenic
LRP5
(A422V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TSPAN12
(I76del)
Deletion
(inframe_deletion)
TSPAN12-related condition
GUncertain significance
TSPAN12
Deletion
(5 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
TSPAN12
Duplication
(5 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
TSPAN12
Duplication
(5 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
TSPAN12
Deletion
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GLikely benign
PRSS23, FZD4
Duplication
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GLikely benign
FZD4, PRSS23
Indel
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
FZD4, PRSS23
Deletion
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
FZD4, PRSS23
Microsatellite
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
PRSS23, FZD4
Microsatellite
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
FZD4, PRSS23
Microsatellite
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
FZD4, PRSS23
Microsatellite
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
PRSS23, FZD4
Microsatellite
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
FZD4, PRSS23
Deletion
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GUncertain significance
PRSS23, FZD4
Deletion
(3 prime UTR variant)
Familial exudative vitreoretinopathy
GLikely benign
TSPAN12
(C181F)
Single nucleotide variant
(missense variant)
Atrophia bulborum hereditaria
+3 more
GPathogenic
PRSS23, FZD4
(D428fs)
Microsatellite
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
FZD4, PRSS23
(M105V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GPathogenic
NDP, NDP-AS1
Single nucleotide variant
(5 prime UTR variant)
Exudative retinopathy
+1 more
GUncertain significance
RCBTB1
Single nucleotide variant
(splice donor variant)
Exudative retinopathy
+1 more
GLikely pathogenic
TSPAN12
Duplication
(intron variant)
not specified
+2 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+1 more
GPathogenic
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