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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD11B1, HSD11B1-AS1
(V227fs)
Insertion
(frameshift variant)
Exstrophy-epispadias complex
GUncertain significance
FANCE
(P310Q)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
+2 more
GConflicting classifications of pathogenicity
TCP11L1
(I131V)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
TMEM120B
(V202A)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
LOC126862157, RPL4
(R204L)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
WDR81
(R591H)
Single nucleotide variant
(missense variant +1 more)
Exstrophy-epispadias complex
+1 more
GUncertain significance
FLCN
(A541T +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+2 more
GUncertain significance
INTS2
(P711L +1 more)
Single nucleotide variant
(missense variant)
Exstrophy-epispadias complex
GUncertain significance
EIF6
(N137S +1 more)
Single nucleotide variant
(missense variant +1 more)
Exstrophy-epispadias complex
GUncertain significance
IGL, ZNF280B
(V313M)
Single nucleotide variant
(missense variant +1 more)
Exstrophy-epispadias complex
+1 more
GConflicting classifications of pathogenicity
EGFL6
(R448Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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