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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THOC2
(S789N)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(V337A)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(E1548A)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(V1379F)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GUncertain significance
THOC2
(Y106C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(T1013I)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(R1409H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(H1586Y)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely benign
THOC2
(I1440V)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(N208S)
Single nucleotide variant
(missense variant)
THOC2-related disorder
+1 more
GUncertain significance
THOC2
(Y995H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(Y899H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
LOC130068628, THOC2
(W12R)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
(C615Y)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
Single nucleotide variant
(intron variant)
X-linked intellectual disability-short stature-overweight syndrome
GBenign
THOC2
Single nucleotide variant
(intron variant)
X-linked intellectual disability-short stature-overweight syndrome
GBenign
THOC2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
THOC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
THOC2
(N805S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(R998H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(A912P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GUncertain significance
THOC2
(Q65H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
Single nucleotide variant
(intron variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(Y1102C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
(A648S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
(D656G)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GUncertain significance
THOC2
(G1205R)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(Y50S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
Deletion
(splice acceptor variant +1 more)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(K1549R)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(W1100C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(R1075W)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(Y881C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(K724E)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(N666D)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
Single nucleotide variant
(synonymous variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GBenign/Likely benign
THOC2
(A421T)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GBenign/Likely benign
THOC2
(F45I)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(C981Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
THOC2
(N1261H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(R1121G)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(S1108L)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
(R77C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+2 more
GConflicting classifications of pathogenicity
THOC2
(Y517C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GUncertain significance
THOC2
Single nucleotide variant
(splice acceptor variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
Single nucleotide variant
(intron variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
(H1187Y)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GLikely pathogenic
THOC2
(G713D)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GPathogenic
THOC2
(T696I)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GPathogenic/Likely pathogenic
THOC2
Duplication
(intron variant)
X-linked intellectual disability-short stature-overweight syndrome
+1 more
GBenign/Likely benign
SIL1
(R92W)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
+3 more
GBenign/Likely benign
THOC2
(I800T)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GPathogenic
THOC2
(S1012P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GPathogenic
THOC2
(L313F)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GPathogenic
THOC2
(L438P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-short stature-overweight syndrome
GPathogenic
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