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Items: 1 to 100 of 202

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
ACTRT3, ARL14
+304 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
+1 more
GLikely benign
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Duplication
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GBenign
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
+1 more
GBenign
BCHE
Single nucleotide variant
(non-coding transcript variant +1 more)
Deficiency of butyrylcholinesterase
GLikely benign
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
BCHE
(G601fs)
Deletion
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCHE
(G601V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BCHE
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BCHE
(S594I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(T593A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(N579S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BCHE
Duplication
(inframe_insertion +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(A567V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(A567T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BCHE
Single nucleotide variant
(splice acceptor variant)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BCHE
Single nucleotide variant
(intron variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
BCHE
Single nucleotide variant
(intron variant)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
Single nucleotide variant
(intron variant)
not provided
GBenign
BCHE
Single nucleotide variant
(splice donor variant)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(K556I)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(R548L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(R548*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(A544V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(A544P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(R543C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
BCHE
(M539fs)
Duplication
(frameshift variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(I538T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(Y528*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GConflicting classifications of pathogenicity
BCHE
(Q526*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(E525V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCHE
(P519L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(S515T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
BCHE
(N514Y)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(T511S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(E510*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
Single nucleotide variant
(intron variant)
Deficiency of butyrylcholinesterase
+1 more
GConflicting classifications of pathogenicity
BCHE
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
BCHE
Single nucleotide variant
(splice donor variant)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(Y505H)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(F502L)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(W499*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(R498W)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(V496M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
BCHE
(E488K)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(R480G)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(W458fs)
Duplication
(frameshift variant +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(R452*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GPathogenic/Likely pathogenic
BCHE
(A444T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(N443H)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
+1 more
GConflicting classifications of pathogenicity
BCHE
(C428*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(V421del)
Microsatellite
(inframe_deletion +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(D419V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(G418V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GConflicting classifications of pathogenicity
BCHE
(R414C)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
+1 more
GPathogenic/Likely pathogenic
BCHE
(R414fs)
Deletion
(frameshift variant +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(Q408*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(D406fs)
Duplication
(frameshift variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(E395*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(G393V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(G393R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GPathogenic
BCHE
(F392*)
Microsatellite
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(F392L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(P387fs)
Deletion
(frameshift variant +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(I384V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(K383I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(G381A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(E377*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GPathogenic
BCHE
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(N369K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(F365L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
(P363T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCHE
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GUncertain significance
BCHE
(L358fs)
Duplication
(frameshift variant +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(L358I)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GPathogenic/Likely pathogenic
BCHE
(A356D)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyrylcholinesterase
GUncertain significance
BCHE
(Q344*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of butyrylcholinesterase
GLikely pathogenic
BCHE
(T343fs)
Duplication
(frameshift variant +1 more)
Deficiency of butyrylcholinesterase
GPathogenic/Likely pathogenic
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