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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861207, OR10AG1
+28 more
Copy number gain
See cases
GBenign
APLNR, LINC02735
+86 more
Copy number gain
See cases
GUncertain significance
OR4A15, OR4A16
+13 more
Copy number gain
See cases
GLikely benign
LOC126861207, OR10AG1
+27 more
Copy number gain
See cases
GBenign
APLNR, BTBD18
+147 more
Copy number gain
See cases
GPathogenic
LOC126861207, OR10AG1
+27 more
Copy number gain
See cases
GBenign
LINC02735, LOC126861207
+50 more
Copy number loss
See cases
GBenign
OR5L2
(G2S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(R24K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(Y35C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(V37L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(T38R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OR5L2
(I49M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(S53C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(V59A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(F61L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(F68S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(L82F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(N87K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(K88E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR5L2
(A119G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(D121Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(F168V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(F177L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(T193I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(L215R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(I255V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(Y257S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR5L2
(G265V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(T279P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR5L2
(S307Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
ACP2, ACCS
+216 more
Copy number gain
See cases
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
OR10AG1, OR4A15
+47 more
Copy number gain
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
APLNR, BTBD18
+67 more
Duplication
not provided
Gnot provided
APLNR, BTBD18
+95 more
Copy number gain
not provided
GUncertain significance
LRRC55, OR10AG1
+48 more
Copy number gain
See cases
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
OR10AG1, OR4A15
+25 more
Copy number gain
See cases
GBenign
OR10AG1, OR4A15
+25 more
Copy number gain
See cases
GBenign
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