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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMP10
(T200S)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GBenign
WIZ
(Q1356R +4 more)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
CELSR3
(A1959T)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
+1 more
GConflicting classifications of pathogenicity
WNT11
(M66I)
Single nucleotide variant
(missense variant)
WNT11-related disorder
+1 more
GBenign/Likely benign
CELSR3
(R3189Q)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
+1 more
GBenign/Likely benign
CELSR1
(R2438Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
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
WDR81
(R591H)
Single nucleotide variant
(missense variant +1 more)
Exstrophy-epispadias complex
+1 more
GUncertain significance
IGL, ZNF280B
(V313M)
Single nucleotide variant
(missense variant +1 more)
Exstrophy-epispadias complex
+1 more
GConflicting classifications of pathogenicity
TMEM120B
(V202A)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
TCP11L1
(I131V)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
LOC126862157, RPL4
(R204L)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
INTS2
(P711L +1 more)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
HSD11B1, HSD11B1-AS1
(V227fs)
Insertion
(frameshift variant)
Exstrophy-epispadias complex
GUncertain significance
LINC02718, CCDC179
(E9Q)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
EIF6
(N137S +1 more)
Single nucleotide variant
(missense variant +1 more)
Exstrophy-epispadias 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
EGFL6
(R448Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
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
FLCN
(A541T +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+2 more
GUncertain significance
TP63
(M331I +4 more)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
CELSR3
(R3033H)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GBenign
PKD1
(P731L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP4F22
(R54C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
FANCE
(P310Q)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
+2 more
GConflicting classifications of pathogenicity
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