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Links from Gene

Items: 1 to 100 of 405

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC10A2
(T330M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
(V211I)
Single nucleotide variant
(missense variant)
SLC10A2-related disorder
GUncertain significance
SLC10A2
(G104*)
Single nucleotide variant
(nonsense)
SLC10A2-related disorder
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
SLC10A2-related disorder
GUncertain significance
SLC10A2
(M141K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD13, ADPRHL1
+66 more
Copy number gain
not provided
GPathogenic
SLC10A2
(C132F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC10A2
(L93V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARGLU1, BIVM
+6 more
Copy number loss
See cases
GUncertain significance
ABHD13, ARGLU1
+34 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+54 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+53 more
Copy number loss
not specified
GPathogenic
ABHD13, ARGLU1
+7 more
Copy number loss
not specified
GUncertain significance
ABCC4, ABHD13
+98 more
Copy number gain
not specified
GPathogenic
SLC10A2
(I103fs)
Microsatellite
(frameshift variant)
SLC10A2-related disorder
GUncertain significance
SLC10A2
(S155C)
Single nucleotide variant
(missense variant)
SLC10A2-related disorder
GUncertain significance
SLC10A2
Duplication
(3 prime UTR variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
Duplication
(intron variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
SLC10A2-related disorder
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(A200V)
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
(S87L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(D120N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(C106R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P4L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P65S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(A236T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(R64Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P280S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(T262K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
(G71S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(C51*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SLC10A2
(I160V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P187A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(Y162C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(L135M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(V99G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(P290R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(W186fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SLC10A2
(S133F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC10A2
(L101F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
(S6R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(S171D)
Inversion
(missense variant)
not provided
GUncertain significance
SLC10A2
(Q297L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(Y253H)
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
GLikely benign
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
SLC10A2
(I214V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(A111S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(G263R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(V153F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(T279fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
SLC10A2
(S126N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(V170I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(N328D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(I55M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
(Q188fs)
Duplication
(frameshift 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
GLikely benign
SLC10A2
(G241W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(R246G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC10A2
(S18C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
SLC10A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC10A2
(V159A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(F76S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(Q217*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SLC10A2
(M79K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A2
(I205M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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