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Links from Gene

Items: 1 to 100 of 181

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A2
(S3R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(G59R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(H1131Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(T180P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(E349K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R676Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(S771L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(A185V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC4A2
(A860E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(N845D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB8, ABCF2
+19 more
Deletion
Long QT syndrome
GPathogenic
SLC4A2
(S223N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(V187M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(L163P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R154K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(D120Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(L1195H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(H1164Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R1097Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(S988T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(A958V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(T957P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(Y952F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R94H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(P866L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(A702T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(E516D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(E525Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(P491S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(P487L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(E461K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(E356D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB8, ABCF2
+125 more
Copy number gain
See cases
GPathogenic
SLC4A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC4A2
(G669V +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ABCB8, ABCF2
+165 more
Copy number gain
not specified
GPathogenic
LOC100134040, LRRC61
+40 more
Copy number loss
not specified
GPathogenic
TMEM176B, ZNF425
+49 more
Copy number loss
not provided
GPathogenic
INSIG1, PDIA4
+80 more
Copy number loss
not provided
GPathogenic
CLCN1, RHEB
+123 more
Copy number loss
not provided
GPathogenic
ARHGEF35, KEL
+169 more
Copy number loss
not provided
GPathogenic
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC4A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC4A2
(R107Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC4A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC4A2
(I980F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(P1209R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(C1037G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(E1128K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(Q1070H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(V405M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R916Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R431G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R615C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(S939N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NDUFB2, NOBOX
+125 more
Copy number loss
not provided
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
SLC4A2
(E573K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R821H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(A848G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R311G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(V376A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(A12T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(G203V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(V515M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R299Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(V553A +2 more)
Single nucleotide variant
(missense variant)
Osteopetrosis, autosomal recessive 9
GPathogenic
SLC4A2
(A186T +2 more)
Single nucleotide variant
(missense variant)
Osteopetrosis, autosomal recessive 9
GPathogenic
SLC4A2
(G87V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(H309D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(A1051T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(T250M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R886W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R692C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R1197Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCB8, ABCF2
+31 more
Deletion
not provided
GPathogenic
ABCB8, ABCF2
+19 more
Deletion
Lethal congenital glycogen storage disease of heart
GUncertain significance
ABCB8, ABCF2
+30 more
Duplication
not provided
GUncertain significance
ABCB8, ABCF2
+30 more
Deletion
not provided
GPathogenic
SLC4A2
(I481V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(Q642E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R124W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R1148H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(V267I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R164Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R290W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(L486P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(Q181P +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC4A2
(R327Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(S484F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R150W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R221C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(N404K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(T891M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(R96C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(P885A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(H681L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A2
(P553L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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