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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B, LOC115308161
+1 more
(G12S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ARID1B
(N503fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ARID1B
(A411T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1B
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ARID1B
(M81fs +2 more)
Indel
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(F1352fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(R1604fs +3 more)
Microsatellite
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(H1123fs +3 more)
Indel
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(N2073T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARID1B
(N1468D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1B
(L1477fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
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