U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDNRB, EDNRB-AS1
(W404* +1 more)
Single nucleotide variant
(nonsense +1 more)
ABCD syndrome
+3 more
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GBenign
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(synonymous variant)
EDNRB-related disorder
+2 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB-AS1, EDNRB
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB-AS1, EDNRB
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
(R154L +1 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 2
+1 more
GUncertain significance
EDNRB
(C131R +1 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 2
+1 more
GUncertain significance
EDNRB
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GLikely benign
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GLikely benign
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
(S509L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EDNRB, EDNRB-AS1
(R524C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB-AS1, EDNRB
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
(V185M +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
(V260F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
EDNRB-AS1, EDNRB
(V260I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EDNRB
Single nucleotide variant
(synonymous variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB-AS1, EDNRB
Single nucleotide variant
(synonymous variant)
Hirschsprung disease, susceptibility to, 2
+1 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
(C380S +1 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 2
+1 more
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GLikely benign
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
GUncertain significance
EDNRB, EDNRB-AS1
(T244M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
(G429R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hirschsprung Disease, Recessive
+7 more
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(3 prime UTR variant)
Hirschsprung disease, susceptibility to, 2
+2 more
GBenign/Likely benign
EDNRB, EDNRB-AS1
Single nucleotide variant
(synonymous variant)
Hirschsprung disease, susceptibility to, 2
+2 more
GBenign/Likely benign
EDNRB-AS1, EDNRB
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
EDNRB
(L107F +1 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 2
+2 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
EDNRB
(R82Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
EDNRB, LOC107882129
(K15*)
Single nucleotide variant
(nonsense +1 more)
Hirschsprung disease, susceptibility to, 2
Grisk factor
EDNRB, EDNRB-AS1
(S305N +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
EDNRB
(G57S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
(Y383fs +1 more)
Duplication
(frameshift variant)
Hirschsprung disease, susceptibility to, 2
Grisk factor
EDNRB, EDNRB-AS1
(W275* +1 more)
Single nucleotide variant
(nonsense)
Hirschsprung disease, susceptibility to, 2
Grisk factor
EDNRB, EDNRB-AS1
(W276C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination