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Links from MedGen

Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIP12
(N1109fs +8 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(P530fs +8 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(N3T)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(H1617Y +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(Y1399C +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
Deletion
(splice acceptor variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(P1360L +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(R171fs +1 more)
Microsatellite
(frameshift variant +1 more)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(G1001fs +8 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
Gnot provided
TRIP12
(T1276P +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(N354S +4 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(V1025I +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(M251fs +4 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(A1332V +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(Q1095fs +11 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(Y1698fs +11 more)
Indel
(frameshift variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(Q296* +2 more)
Single nucleotide variant
(nonsense +1 more)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(L1215fs +8 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(S578* +8 more)
Duplication
(nonsense)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(Q159* +4 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
Gnot provided
TRIP12
(D548fs +8 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(Q344* +4 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(N531fs +8 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(N1547fs +11 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(H1081R +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(N1058K +8 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
Single nucleotide variant
(intron variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(N110S +1 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(R351C +3 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(T296M +4 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
+1 more
GConflicting classifications of pathogenicity
TRIP12
(I1192T +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(T325I +4 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(L1186S +8 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(K454R +4 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(L1205del +11 more)
Microsatellite
(inframe_deletion)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(A579V +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TRIP12
(C710Y +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TRIP12
(P322T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRIP12
(P1744fs +11 more)
Indel
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(I1252V +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(V270G +1 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(R322W +2 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(Y1692* +11 more)
Duplication
(nonsense)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
Single nucleotide variant
(splice acceptor variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(I1192V +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GLikely benign
TRIP12
(G189A +1 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
Single nucleotide variant
(splice donor variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(R1277W +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
+1 more
GConflicting classifications of pathogenicity
TRIP12
(Q26H)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
Single nucleotide variant
(intron variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(A208T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TRIP12
(Q121L +1 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(L1409fs +11 more)
Indel
(frameshift variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(L1167P +8 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(G1070V +8 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(G581* +8 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(S1635G +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(P46L)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(R345K +3 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TRIP12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TRIP12
(S1231fs +11 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
Single nucleotide variant
(intron variant)
Clark-Baraitser syndrome
+1 more
GBenign
TRIP12
Deletion
(intron variant)
not provided
+1 more
GBenign
TRIP12
Single nucleotide variant
(intron variant)
Clark-Baraitser syndrome
+1 more
GBenign
TRIP12
(V449fs +4 more)
Insertion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(R1290Q +11 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIP12
(T1298N +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(S1763L +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(R1073K +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(I1204V +8 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(S288L +2 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(I193V +1 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(A1476fs +11 more)
Duplication
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(M1728V +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
Single nucleotide variant
(splice donor variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(P134fs +1 more)
Duplication
(frameshift variant +1 more)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(V346F +4 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(I1089fs +8 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
TRIP12
(P1696L +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(Q1717* +11 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(E1183D +8 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(K304R +2 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(N1410fs +11 more)
Duplication
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(P461T +4 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(N632D +4 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(S1195fs +8 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIP12
(R1028* +8 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TRIP12
(R217* +4 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(E299A +2 more)
Single nucleotide variant
(missense variant +1 more)
Clark-Baraitser syndrome
+1 more
GUncertain significance
TRIP12
(Q1057* +8 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(D1635E +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GLikely pathogenic
TRIP12
(T1985A +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GUncertain significance
TRIP12
(P1892L +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GConflicting classifications of pathogenicity
TRIP12
(Q1413* +11 more)
Single nucleotide variant
(nonsense)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(R503* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TRIP12
Single nucleotide variant
(splice donor variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
(G1000fs +8 more)
Duplication
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
TRIP12
Deletion
(nonsense)
not provided
GPathogenic
TRIP12
(R1628Q +11 more)
Single nucleotide variant
(missense variant)
Clark-Baraitser syndrome
GPathogenic
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