U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNXB
(T166P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NIPBL
(P351L)
Single nucleotide variant
(missense variant)
Intellectual disability, mild
+4 more
GLikely pathogenic
AFAP1L2, VWA2
(R446C)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux
GLikely pathogenic
MED13L
(D657fs)
Deletion
(frameshift variant)
Motor delay
+3 more
GPathogenic
KAT6B
(R438fs +7 more)
Deletion
(frameshift variant)
Blepharophimosis
+9 more
GLikely pathogenic
SOX17
(E152D)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux
GLikely benign
EBF3
(E94fs)
Deletion
(frameshift variant)
Vesicoureteral reflux
+7 more
GPathogenic
ROBO2
Single nucleotide variant
Vesicoureteral reflux
GBenign
ROBO2
Duplication
(3 prime UTR variant)
Vesicoureteral reflux
GLikely benign
ROBO2
Deletion
(3 prime UTR variant)
Vesicoureteral reflux
GLikely benign
ROBO2
Single nucleotide variant
(3 prime UTR variant)
Vesicoureteral reflux
GUncertain significance
ROBO2
Single nucleotide variant
(3 prime UTR variant)
Vesicoureteral reflux
GUncertain significance
ROBO2
Duplication
(3 prime UTR variant)
Vesicoureteral reflux
GLikely benign
ROBO2
Deletion
(intron variant)
not provided
+1 more
GBenign
LOC126806727, ROBO2
(V658I +6 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux
GUncertain significance
Inversion
Thrombocytopenia
+9 more
GPathogenic
Translocation
Penile hypospadias
+6 more
GUncertain significance
C12orf57
Single nucleotide variant
(5 prime UTR variant +2 more)
Temtamy syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination