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Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
ADGB, ADGB-DT
+227 more
Copy number loss
See cases
GPathogenic
LOC132089373, LOC132090771
+172 more
Copy number loss
See cases
GPathogenic
LOC129997480, LOC129997522
+288 more
Deletion
Chromosome 6q24-q25 deletion syndrome
GPathogenic
AKAP12, ARID1B
+288 more
Copy number loss
See cases
GPathogenic
AKAP12, ARID1B
+208 more
Copy number loss
Coffin-Siris syndrome 1
GPathogenic
AKAP12
(G4E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(P15R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G29S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G29A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AKAP12
(S49L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
Deletion
(intron variant)
Preeclampsia
Gnot provided
AKAP12
(L76F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G86E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G90R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(T105I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(R12G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(V10E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(D16N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A129V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
AKAP12
(E147K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(S67Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A62P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(I170T +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AKAP12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AKAP12
(K82R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AKAP12
(A145T +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AKAP12
(I252T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(P149L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AKAP12
(E169K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E166G +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AKAP12
(F296L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G208S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(R210H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(K317E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A323T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A267V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AKAP12
(R369W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(K278T +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AKAP12
(V279A +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AKAP12
(K395T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(I303V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AKAP12
(I310T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(V305L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E313G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E331K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(Q350E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(P459S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G375R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(L377V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(V402L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(T450S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G563S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(P465A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E476K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E575K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(L481V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G582S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(F515L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AKAP12
(T513M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(R517H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E527G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(S540C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E565D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(R566C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(S573P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G605V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(T618M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(P646L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(K672I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(D782A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AKAP12
(G701D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(K808R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(G730E +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AKAP12
(V748M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E768K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A897V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AKAP12
(D800N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(T802M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(R834G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(R856W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A864T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(T972N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A882T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(E887K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(T1000P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(S899L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(T918I +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AKAP12
(P959R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(A1081D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AKAP12
(T992M +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AKAP12
(V995M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP12
(I1025V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
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