U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
CHID1, CHRNA10
+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
(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
(V181I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC126861119, TRIM5
(W170R)
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
C11orf42, MRGPRG
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
OR10A6, RRM1
+205 more
Copy number gain
not provided
GPathogenic
ART1, CD81
+308 more
Copy number gain
See cases
GPathogenic
OR52B6, OR52D1
+6 more
Copy number loss
not provided
GUncertain significance
IFITM3, OR52D1
+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
CCKBR, OR56A4
+343 more
Copy number gain
not provided
GPathogenic
ADM, AKIP1
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
RASSF10, RASSF7
+258 more
Copy number gain
not provided
GPathogenic
OR2AG2, OR2D2
+222 more
Copy number gain
not provided
GPathogenic
OR52B6, OR52D1
+7 more
Copy number loss
See cases
GLikely benign
ABCC8, ADM
+327 more
Copy number gain
See cases
GPathogenic
ACP2, CREBZF
+1289 more
Copy number gain
See cases
GPathogenic
GALNT18, MPZL3
+1289 more
Copy number gain
See cases
GPathogenic
ABCC8, ADM
+305 more
Copy number gain
See cases
GPathogenic
OR2AG2, OR2D2
+364 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination