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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB23
(M6R)
Single nucleotide variant
(missense variant +1 more)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
PRAMEF2
(R399C)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
MMP26, OR51A7
(H22Y)
Single nucleotide variant
(missense variant +1 more)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
LMO7
(R301T +3 more)
Single nucleotide variant
(missense variant +1 more)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
KDM5B
(R1410H +3 more)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
EPHA1
(I86F)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
LINC02718, CCDC179
(E9Q)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
SPINT3
(T50M)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
TSHR
(T88I)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
TPSD1
(R94S)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
TCHHL1
(V510A)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
STK38
(H210fs)
Microsatellite
(frameshift variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
ANTXR1
(R444Q)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
+1 more
GUncertain significance
SOX18
(R256W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
Odonto-onycho-dermal dysplasia
GPathogenic
PKD1
(P731L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ISL1
(A46G)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
ISL1
Single nucleotide variant
(intron variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
LRRC37A2, WNT3
(G213D)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
LRP10
(G252S)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
FZD5
(M89I)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
WNT11
(R316H)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
WNT10A
(R163W)
Single nucleotide variant
(missense variant)
WNT10A-related condition
+4 more
GConflicting classifications of pathogenicity
LOC126806608, WNT7A
(A163T)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
WNT6
Single nucleotide variant
(synonymous variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GLikely benign
LRRC37A2, WNT3
(C91R)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GLikely pathogenic
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