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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDNRB
(E188* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 4A
GPathogenic
EDNRB, EDNRB-AS1
(V230L +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
GUncertain significance
EDNRB, EDNRB-AS1
(M296V +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
GUncertain significance
EDNRB, EDNRB-AS1
(K422fs +1 more)
Deletion
(frameshift variant +1 more)
Waardenburg syndrome type 4A
GUncertain significance
EDNRB, EDNRB-AS1
Single nucleotide variant
(splice donor variant)
Waardenburg syndrome type 4A
GLikely pathogenic
EDNRB, EDNRB-AS1
Single nucleotide variant
(splice donor variant)
Waardenburg syndrome type 4A
GLikely pathogenic
EDNRB, EDNRB-AS1
(W404* +1 more)
Single nucleotide variant
(nonsense +1 more)
ABCD syndrome
+3 more
GUncertain significance
EDNRB, LOC107882129
(C6*)
Single nucleotide variant
(nonsense +1 more)
Waardenburg syndrome
+2 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
(D368V +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
GUncertain significance
EDNRB, EDNRB-AS1
(V260fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 4A
GLikely pathogenic
POLR2F, SOX10
Deletion
(inframe_indel +2 more)
Waardenburg syndrome type 4A
GPathogenic
EDNRB-AS1, EDNRB
(V185M +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
+4 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
Single nucleotide variant
(intron variant +1 more)
Waardenburg syndrome type 4A
GPathogenic
EDNRB, EDNRB-AS1
(V260F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
EDNRB, EDNRB-AS1
(A264V +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
GUncertain significance
EDNRB, EDNRB-AS1
(V325I +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
+1 more
GUncertain significance
EDNRB, EDNRB-AS1
(S184P +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
GLikely pathogenic
EDNRB, EDNRB-AS1
(C174fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 4A
GPathogenic
EDNRB
(C109* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 4A
GPathogenic/Likely pathogenic
EDNRB
(G135S +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
GUncertain significance
EDNRB-AS1, EDNRB
(G429R +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCD syndrome
+7 more
GUncertain significance
EDNRB-AS1, EDNRB
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
EDNRB
(R82Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
(R201* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EDNRB, EDNRB-AS1
(R253* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
EDNRB, EDNRB-AS1
(S305N +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
EDNRB, EDNRB-AS1
(A183G +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4A
GPathogenic
EDNRB, EDNRB-AS1
(W276C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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