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Links from MedGen

Items: 1 to 100 of 422

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1A, LOC126805670
(P1163S)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(W1707fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(S1270fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(S1333G +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B, LOC129997525
(Y176* +2 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Q741fs +1 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(A1000fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(E1274K +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GLikely benign
ARID1B
(Q1461* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(K1065fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G647fs)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(Y441fs)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(S311N +2 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
(P170T +5 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
Single nucleotide variant
(splice donor variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
Indel
(splice acceptor variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(T1677fs +3 more)
Indel
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B, LOC115308161
(F113L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(Q1021* +5 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(W1109* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B, LOC115308161
+1 more
(A141T +1 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+1 more
GConflicting classifications of pathogenicity
ARID1B
(L1425fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(R1360S +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(H1123fs +3 more)
Indel
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B, LOC115308161
+1 more
(A14del)
Microsatellite
(inframe_deletion)
Coffin-Siris syndrome 1
GUncertain significance
SOX4
(S386F)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(T1581A +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GLikely benign
ARID1B
Single nucleotide variant
(synonymous variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(S1202fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
AKAP12, ARID1B
+208 more
Copy number loss
Coffin-Siris syndrome 1
GPathogenic
ARID1B, LOC129389697
+4 more
Copy number loss
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(G467fs)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
Gnot provided
ARID1B
(Q1415fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(C1222fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Y1352* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Y1077* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(K1047* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
Single nucleotide variant
(synonymous variant)
Coffin-Siris syndrome 1
GLikely benign
ARID1B
(M81fs +2 more)
Indel
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(L1477fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(N1240S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ARID1B
(M604fs)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(K1287fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(L1753fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Q1408* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(G690R +4 more)
Single nucleotide variant
(missense variant +1 more)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(S1056fs +2 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(M1422fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(H619fs)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(F1074fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(E1374* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(L1259fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Q409* +2 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
Deletion
(frameshift variant +1 more)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(S138* +5 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B, LOC115308161
(N138S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(D1017H +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(M1377V +6 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, LOC115308161
+1 more
(D114E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G297S +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
(Q641R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ARID1B, LOC115308161
Microsatellite
(inframe_indel +2 more)
not provided
+1 more
GUncertain significance
ARID1B
(S1142P +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(P392L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARID1B
(S1246L +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
LOC115308161, LOC129997525
+1 more
(D114E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ARID1B
(D1181G +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B, LOC115308161
Microsatellite
(non-coding transcript variant +2 more)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G264R +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(Y300C +2 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
Single nucleotide variant
(3 prime UTR variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
Duplication
(inframe_indel +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ARID1B
(A290V +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B, LOC129997525
(P170L +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(G343V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARID1B
(G453V +2 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(C128Y +5 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, LOC115308161
(Q205fs)
Insertion
(non-coding transcript variant +1 more)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Y1325* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(W1303* +6 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
Single nucleotide variant
(splice acceptor variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(G140V +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARID1B
(N1742S +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+2 more
GConflicting classifications of pathogenicity
ARID1B, LOC115308161
+1 more
(S15G +1 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
+2 more
GUncertain significance
ARID1B
(R1456L +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ARID1B
Deletion
(inframe_indel +1 more)
Coffin-Siris syndrome 1
+1 more
GConflicting classifications of pathogenicity
ARID1B
(V1242G +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(G1310R +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
Deletion
(frameshift variant +1 more)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(R1511W +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(E1125fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(K1443fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(H1344Y +6 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 1
GUncertain significance
ARID1B
(H1585fs +3 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
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