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Links from Gene

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIM21
(K168E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861116, TRIM21
(W299R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861116, TRIM21
(T284S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861116, TRIM21
(R283S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(V27M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM21
(A124T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM21
(S432F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(G367R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C11orf40, OR52B4
+7 more
Copy number gain
not provided
GUncertain significance
TRIM21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126861116, TRIM21
(P319S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(I160T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(A240T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
LOC126861116, TRIM21
(Q316K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(P404L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(R91Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC126861116, TRIM21
(R306W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(C31F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(C92Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861116, TRIM21
(D294N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(R364C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM21
(I248T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
C11orf40, OR51D1
+9 more
Copy number gain
not provided
GUncertain significance
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
IFITM5, SIGIRR
+137 more
Copy number gain
not provided
Gnot provided
ANO9, AP2A2
+109 more
Copy number gain
See cases
GPathogenic
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
TRIM21, OR52B4
Copy number gain
not provided
GUncertain significance
C11orf40, OR52B4
+7 more
Copy number gain
not provided
GUncertain significance
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
TRIM21
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIM21
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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
C11orf40, OR51D1
+15 more
Copy number gain
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
ART1, ART5
+17 more
Copy number gain
See cases
GLikely benign
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
C11orf40, OR51D1
+12 more
Copy number gain
See cases
GUncertain significance
OR51G2, OR51L1
+132 more
Copy number gain
See cases
GPathogenic
C11orf40, OR51D1
+15 more
Copy number loss
See cases
GUncertain significance
OR51G2, OR51L1
+28 more
Copy number gain
Abnormal esophagus morphology
GLikely pathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
LINC02749, LOC106865369
+45 more
Copy number gain
See cases
GUncertain significance
LOC126861116, LOC126861117
+10 more
Copy number loss
See cases
GUncertain significance
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
LOC130005164, LOC130005165
+332 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
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