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Items: 1 to 100 of 177

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC130005114, LOC130005115
+204 more
Copy number gain
See cases
GPathogenic
LOC111718490, LOC112067719
+388 more
Copy number gain
See cases
GPathogenic
LOC130005104, LOC130005105
+271 more
Copy number gain
See cases
GPathogenic
STIM1-AS1, SYT8
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
B4GALNT4, IFITM1
+27 more
Duplication
Small for gestational age
Gnot provided
IFITM5
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
IFITM5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
IFITM5
Deletion
(3 prime UTR variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
(A129V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(A129T)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
IFITM5
(F126V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFITM5
(A120T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFITM5
(R113P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(R113Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
IFITM5
(R113W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IFITM5
(A112G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(H110Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IFITM5
(H110Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(V105fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
IFITM5
(V104M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(L103fs)
Deletion
(frameshift variant)
not provided
GLikely benign
IFITM5
(L100F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IFITM5
Deletion
(inframe_deletion)
not provided
GBenign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
(P96L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
IFITM5
(V95L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
(T93M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IFITM5
(A90T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
(L88P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
(Y85C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IFITM5
(C84Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(K81R)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFITM5
(F78S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(R77H)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFITM5
(R77C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
(R76Q)
Single nucleotide variant
(missense variant)
IFITM5-related disorder
+2 more
GConflicting classifications of pathogenicity
IFITM5
(R76W)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFITM5
(A75T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IFITM5
(V69A)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFITM5, LOC130005046
(V68L)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFITM5, LOC130005046
(Q66E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IFITM5, LOC130005046
(R64Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFITM5, LOC130005046
(R64P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5, LOC130005046
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5, LOC130005046
(R64*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
IFITM5, LOC130005046
Microsatellite
(intron variant)
Osteogenesis imperfecta
GLikely benign
IFITM5, LOC130005046
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5, LOC130005046
Single nucleotide variant
(intron variant)
not provided
GBenign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GBenign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GBenign
IFITM5
Duplication
(intron variant)
not provided
GBenign
IFITM5
Deletion
(splice donor variant)
not provided
GUncertain significance
IFITM5
Single nucleotide variant
(intron variant)
not provided
GBenign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GBenign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Duplication
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
IFITM5
(K62R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(Y59C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(A58V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IFITM5
(L57R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFITM5
(G53S)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFITM5
(L52F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(C50Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(N48fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
IFITM5
(N48S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 5
GUncertain significance
IFITM5
(N48D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IFITM5
(N48H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFITM5
(F42L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFITM5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
IFITM5
(S40W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
IFITM5
(S40L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IFITM5
(W39C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IFITM5
(W39C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IFITM5
(H36del)
Deletion
(inframe_deletion)
not provided
GLikely benign
IFITM5
(R34Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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