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Items: 1 to 100 of 177

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
EDN3, EEF1A2
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066240, LOC130066241
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC121627913, LOC121853014
+175 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
LOC130066376, LOC130066377
+464 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+355 more
Copy number gain
See cases
GPathogenic
EDN3
Single nucleotide variant
not provided
GBenign
EDN3
Single nucleotide variant
not provided
GLikely benign
EDN3
Deletion
not provided
GLikely benign
EDN3
Single nucleotide variant
Hirschsprung Disease, Dominant
GUncertain significance
EDN3
Single nucleotide variant
Hirschsprung Disease, Dominant
GUncertain significance
EDN3
Single nucleotide variant
Hirschsprung Disease, Dominant
+2 more
GBenign/Likely benign
EDN3
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 4
GBenign
EDN3
Single nucleotide variant
(5 prime UTR variant)
Hirschsprung disease, susceptibility to, 4
GLikely benign
EDN3
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
EDN3
(G4A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
EDN3
(F9Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDN3
(S15A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
(A17T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EDN3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(intron variant)
not provided
GBenign
EDN3
Single nucleotide variant
(intron variant)
not provided
GBenign
EDN3
Single nucleotide variant
(intron variant)
not provided
GBenign
EDN3
(C46Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
Microsatellite
(inframe_insertion)
not provided
+2 more
GUncertain significance
EDN3
Microsatellite
(inframe_deletion)
EDN3-related disorder
+1 more
GLikely benign
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
EDN3
Deletion
(inframe_deletion)
not provided
GUncertain significance
EDN3
(A59V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(G62D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EDN3
(G64R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDN3
(A70T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
(Q81E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDN3
(E82K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(E82D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDN3
Indel
(missense variant)
not provided
GUncertain significance
EDN3
(E86V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDN3
(E86G)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
(A88fs)
Duplication
(frameshift variant)
Hirschsprung disease, susceptibility to, 4
Grisk factor
EDN3
(A88fs)
Indel
(frameshift variant)
Waardenburg syndrome type 4B
GPathogenic
EDN3
(A88G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(R93G)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GPathogenic
EDN3
(T98M)
Single nucleotide variant
(missense variant)
Sensorineural hearing loss disorder
GLikely pathogenic
EDN3
(T98K)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
+2 more
GConflicting classifications of pathogenicity
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(synonymous variant)
EDN3-related disorder
GLikely benign
EDN3
(Y110C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EDN3
(C111F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GUncertain significance
EDN3
(H112N)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GLikely pathogenic
EDN3
(H112R)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GPathogenic
EDN3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
EDN3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
(P126R)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
(Y127C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(S135N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(S135I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(R137Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
EDN3
(L145F)
Single nucleotide variant
(missense variant)
EDN3-related disorder
GUncertain significance
EDN3
(S152L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDN3
(R154Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
EDN3
(H156R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(R158S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDN3
(R158L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
(C159F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 4B
GPathogenic
EDN3
(A160T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EDN3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
EDN3
(C169*)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 4B
GPathogenic
EDN3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
EDN3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(intron variant)
Hirschsprung disease, susceptibility to, 4
GUncertain significance
EDN3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
EDN3
(T185M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EDN3
(R190Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
EDN3
(A186T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EDN3
(T189fs)
Duplication
EDN3-related disorder
+4 more
GBenign/Likely benign
EDN3
(E192D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EDN3
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
EDN3
Single nucleotide variant
(intron variant)
not specified
GLikely benign
EDN3
Single nucleotide variant
(intron variant)
not provided
GBenign
EDN3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EDN3
Single nucleotide variant
(intron variant)
EDN3-related disorder
+1 more
GLikely benign
EDN3
(K200M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EDN3
(T186I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
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