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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDN3
(H112N)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GLikely pathogenic
EDN3
(C111F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GUncertain significance
EDN3
(R230C +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hirschsprung disease, susceptibility to, 4
+2 more
GUncertain significance
EDN3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
EDN3
(T98K)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
+1 more
GConflicting classifications of pathogenicity
EDN3
(S15A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EDN3
(T189fs)
Duplication
Hirschsprung Disease, Dominant
+3 more
GBenign/Likely benign
EDN3
(R93G)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GPathogenic
EDN3
(H112R)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GPathogenic
EDN3
(C169*)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 4B
GPathogenic
EDN3
(A224T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GLikely benign
EDN3
(C159F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GPathogenic
EDN3
(A88fs)
Indel
(frameshift variant)
Waardenburg syndrome type 4B
GPathogenic
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