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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLTC
(A1114fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC, LOC126862609
(F1471del +1 more)
Deletion
(inframe_deletion)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(M1302fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(S659* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(L1217del +1 more)
Microsatellite
(inframe_deletion)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC, LOC125177523
(K1535fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(Y285C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(L970P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(R399H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(I40V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(P485L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(R1165* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(P817fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(T582M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLTC
(L633* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(A1269P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(A864T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC, LOC125177523
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 56
+1 more
GUncertain significance
CLTC
(I699fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(C1260Y +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(N761S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(S1080* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(I675V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
Deletion
(intron variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(L1157* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 56
+1 more
GConflicting classifications of pathogenicity
CLTC
(M1592V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CLTC
(F37fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(I1089T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
+1 more
GUncertain significance
CLTC
(I338T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(Y1574* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
Deletion
(frameshift variant)
Autosomal dominant non-syndromic intellectual disability
+1 more
GPathogenic
CLTC
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 56
+1 more
GUncertain significance
CLTC
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 56
GBenign
CLTC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLTC
(V835I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
+1 more
GUncertain significance
CLTC
(S378L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLTC, LOC125177523
(Y1534* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(T394A +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(R1204fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(R625fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC, LOC125177523
+3 more
Deletion
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(L943fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(Q531L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
+1 more
GUncertain significance
CLTC
(R63*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 56
+1 more
GPathogenic
CLTC
Deletion
Intellectual disability, autosomal dominant 56
GLikely pathogenic
CLTC
(I780del +1 more)
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
CLTC
(I1133S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 56
+1 more
GBenign/Likely benign
CLTC
(R399C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
+1 more
GUncertain significance
CLTC, LOC126862609
(V1463fs +1 more)
Microsatellite
(frameshift variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
MMP20
(R380Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GUncertain significance
CLTC
(R1046H +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
+1 more
GUncertain significance
CLTC
(Q1555* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
CLTC
(L1047P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(P890L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 56
+1 more
GPathogenic/Likely pathogenic
CLTC
(S326fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC, LOC125177523
(E1530fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 56
GPathogenic
CLTC
(D913fs +1 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
GPathogenic
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