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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B, LOC115308161
(A115G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1B
(Q565fs)
Deletion
(frameshift variant)
Intellectual disability
GPathogenic
ARID1B
(Y684* +1 more)
Insertion
(nonsense)
Intellectual disability
GPathogenic
ARID1B
(Q846fs +1 more)
Deletion
(5 prime UTR variant +1 more)
Intellectual disability
GPathogenic
ARID1B
(G1095V +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
ARID1B
(Q1144* +4 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(P1414L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ARID1B
(Q1611* +3 more)
Single nucleotide variant
(nonsense)
Intellectual disability
GPathogenic
ARID1B
Single nucleotide variant
(splice donor variant)
Intellectual disability
GPathogenic
ARID1B
(Q2222fs +3 more)
Deletion
(frameshift variant)
Intellectual disability
GPathogenic
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