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Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
APBB1, C11orf42
+59 more
Copy number gain
See cases
GUncertain significance
TRIM5, TRIM6
(Q141R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(E142D +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
TRIM5, TRIM6
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TRIM5, TRIM6
(H133R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(T134I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(L139P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(S159P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(H164R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TRIM5, TRIM6
(E183D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(W367C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(Q221R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(Y401C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(P255S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(R256H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(F261S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(N448T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(P299T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(P305R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(R512C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5, TRIM6
(R485H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130005185, TRIM34
+1 more
(S353N)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
TRIM5
(P479L)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
TRIM5
(Y462C)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TRIM5
(N453S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM5
(R437H)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TRIM5
(D436E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM5
(S416T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM5
(C376Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
TRIM5
(G374E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM5
(Q352R)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TRIM5
(Q352E)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TRIM5
(G347D)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TRIM5
(F339I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM5
(P325Q)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
TRIM5
(I308V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM5
(V303L)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GLikely benign
TRIM5
(G283E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5
(R274T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM5
(V253I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM5
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM5
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM5
(V243M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM5
(R238Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIM5
(Q223L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM5
(S217C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM5
(N198K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM5
(A183T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM5
(V181I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC126861119, TRIM5
(W170R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861119, TRIM5
(R150K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861119, TRIM5
(V134I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861119, TRIM5
(C95S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861119, TRIM5
(R71Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861119, TRIM5
(R71W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM5
(R59W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM5
(D49E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM5
(S46F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM22, TRIM5
(R438C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
OR52N5, TRIM5
(P167fs)
Deletion
(frameshift variant)
not provided
GLikely benign
OR52E8, TRIM5
(F104L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HBB, HBE1
+25 more
Copy number gain
See cases
GLikely benign
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
OR52B6, OR52D1
+6 more
Copy number loss
not provided
GUncertain significance
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
OR52N5, OR56B1
+6 more
Copy number loss
not provided
GUncertain significance
OR52B6, TRIM6
+6 more
Copy number loss
not provided
GUncertain significance
TRIM5, OR56B4
+22 more
Copy number gain
not provided
GLikely benign
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
C11orf40, C11orf42
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
AKIP1, ANO9
+222 more
Copy number gain
not provided
GPathogenic
OR52B6, OR52D1
+7 more
Copy number loss
See cases
GLikely benign
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
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