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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B, LOC115308161
+1 more
(S15G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ARID1B, LOC115308161
+1 more
(A141T +1 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GConflicting classifications of pathogenicity
ARID1B, LOC115308161
Microsatellite
(inframe_indel +2 more)
not provided
+1 more
GUncertain significance
ARID1B, LOC115308161
Microsatellite
(inframe_indel +2 more)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B, LOC115308161
(Q205fs)
Insertion
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
GLikely pathogenic
LOC115308161, ARID1B
(N138S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B, LOC115308161
+1 more
(D114E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B, LOC115308161
+1 more
(D114E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B, LOC129997525
(A290D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ARID1B, LOC129997525
(P170L +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G264R +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(A427V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ARID1B
(A290V +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G297S +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B
(Y300C +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(A363V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ARID1B
(S311N +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G343V +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B
(S378N +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(P392L +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B
(Q535P +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B
Duplication
(inframe_indel +1 more)
Coffin-Siris syndrome 1
+1 more
GConflicting classifications of pathogenicity
ARID1B
Deletion
(inframe_deletion)
Coffin-Siris syndrome 1
+1 more
GConflicting classifications of pathogenicity
ARID1B
(A491T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ARID1B
(G453V +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(P468S +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B
(M614I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ARID1B
(Q641R +4 more)
Single nucleotide variant
(missense variant +1 more)
Coffin-Siris syndrome 1
+1 more
GConflicting classifications of pathogenicity
ARID1B
(M39T +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+2 more
GConflicting classifications of pathogenicity
ARID1B
(C128Y +5 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G140V +5 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B
(P170T +5 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(S1058G +5 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(D1169fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Q1319fs +3 more)
Duplication
(frameshift variant)
ARID1B-related BAFopathy
+3 more
GPathogenic/Likely pathogenic
ARID1B
(R1337Q +4 more)
Single nucleotide variant
(missense variant)
ARID1B-related disorder
+2 more
GUncertain significance
ARID1B
(G1364S +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ARID1B
(P1440fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(R1456L +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GUncertain significance
ARID1B
(M1461V +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ARID1B
(Y1325* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(M1377V +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G1449S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ARID1B
(R1624Q +4 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GConflicting classifications of pathogenicity
ARID1B
(D1017H +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(E1756fs +4 more)
Deletion
(frameshift variant)
Severe combined immunodeficiency due to DCLRE1C deficiency
+3 more
GPathogenic/Likely pathogenic
ARID1B
(N1742S +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+2 more
GConflicting classifications of pathogenicity
ARID1B
(S1142P +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(A1143T +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(A1143S +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(R1174Q +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(D1181G +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(S1246L +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(K1279fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ARID1B
(P1282L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARID1B
(V1295fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
Single nucleotide variant
(3 prime UTR variant)
Coffin-Siris syndrome 1
GUncertain significance
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