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Items: 1 to 100 of 399

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
SIAH3, SLAIN1
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1288 more
Copy number gain
See cases
GPathogenic
LINC00550, LINC00552
+1268 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+706 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+705 more
Copy number gain
See cases
GPathogenic
LOC130010067, LOC130010068
+344 more
Copy number gain
See cases
GPathogenic
LOC132090867, MBNL2
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
LOC130009970, LOC130009971
+638 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+348 more
Copy number loss
See cases
GPathogenic
LOC130010039, LOC130010040
+369 more
Copy number gain
See cases
GPathogenic
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
LOC124946325, LOC124946326
+271 more
Copy number loss
See cases
GPathogenic
BIVM, BIVM-ERCC5
+184 more
Copy number gain
See cases
GPathogenic
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
BIVM, BIVM-ERCC5
+40 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+369 more
Copy number loss
See cases
GPathogenic
LOC130010172, LOC130010173
+367 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+360 more
Copy number gain
See cases
GPathogenic
GAS6-AS1, GAS6-DT
+363 more
Copy number loss
See cases
GPathogenic
BIVM, BIVM-ERCC5
+9 more
Copy number gain
See cases
GUncertain significance
LOC121468007, LOC121838584
+339 more
Copy number loss
See cases
GPathogenic
SLC10A2
Duplication
(3 prime UTR variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
SLC10A2
(E347K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC10A2
(G342R)
Single nucleotide variant
(missense variant)
SLC10A2-related disorder
+1 more
GUncertain significance
SLC10A2
(N340K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(A339T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A2
(S335L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC10A2
(N328D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(E327K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P323L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(Y311C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A2
(V309L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(Y308N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
SLC10A2
Deletion
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
Deletion
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(intron variant)
Bile acid malabsorption, primary, 1
+1 more
GBenign
SLC10A2
(G306E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(F304L)
Single nucleotide variant
(missense variant)
Bile acid malabsorption, primary, 1
+2 more
GConflicting classifications of pathogenicity
SLC10A2
(I303V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC10A2
(A302P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(A302T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC10A2
(F300L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(L298P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC10A2
(L298V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(Q297H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC10A2
(Q297L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(F296L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC10A2
(F296L)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
SLC10A2
(S294G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC10A2
(P290R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P290L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P290T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P290S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SLC10A2
(T288S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A2
(T288A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(V286I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SLC10A2
(P280S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P280A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(T279fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
SLC10A2
(T279S)
Single nucleotide variant
(missense variant)
SLC10A2-related disorder
+1 more
GConflicting classifications of pathogenicity
SLC10A2
(S277P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLC10A2
(Q275H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(T272I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(C270S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(T267M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(T267R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(M264V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(G263R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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