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Items: 1 to 100 of 160

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+176 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+51 more
Deletion
Brugada syndrome
GPathogenic
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Deletion
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
+1 more
GConflicting classifications of pathogenicity
MYD88
(D4A)
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
+1 more
GUncertain significance
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(5 prime UTR variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(5 prime UTR variant)
MYD88-related disorder
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(A11T +1 more)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
MYD88-related disorder
+1 more
GBenign
MYD88
(P13R)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(P13Q)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(P21R)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(M27T)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
+1 more
GBenign
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(L35fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYD88
(F36L)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
+1 more
GUncertain significance
MYD88
(N38S)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(V39M)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(T41S)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(E53del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(E53K)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(E53*)
Single nucleotide variant
(nonsense)
Pyogenic bacterial infections due to MyD88 deficiency
GPathogenic
MYD88
(M54V +1 more)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(D55E)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(E65K +1 more)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(T71I)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(P82S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(A84T +1 more)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(V86fs)
Deletion
(frameshift variant)
Pyogenic bacterial infections due to MyD88 deficiency
GPathogenic
MYD88
(G100S +1 more)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
+1 more
GBenign/Likely benign
MYD88
Single nucleotide variant
(synonymous variant)
MYD88-related disorder
+1 more
GBenign/Likely benign
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(L93P)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GPathogenic
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(D99N)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(P120L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(S108G)
Single nucleotide variant
(missense variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GBenign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(Q122K)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(Q122H)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(E136Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYD88
(A138D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYD88
(A132T)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(R140Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYD88
(T141R)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(A145V +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(A145E)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(D152V)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(P153H)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(splice donor variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely pathogenic
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(intron variant)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(R115H +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(D117N +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(Y167H +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(Y122C +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(D171N +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(I127V +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GLikely benign
MYD88
(E132K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
MYD88
(I134V +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
+1 more
GUncertain significance
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