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Links from MedGen

Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN4
(A385V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(V360I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(K466N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(G70V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(L211P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(S189N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(E186D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(L185V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(L182F +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(V181L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(Q569fs +1 more)
Microsatellite
(frameshift variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(N215fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 49
GPathogenic
CLCN4
(P132L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(T535I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(R270G +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(D29E)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(S69L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CLCN4
(D34N)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(V456L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(I455N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(T109I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(S301R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(P216S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(G637V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(P541R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(V439M +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(R266S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(G248E +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(F225S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(K62R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(G386V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(E38*)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, X-linked 49
GPathogenic
CLCN4
(Q298R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GBenign/Likely benign
CLCN4
(P513L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(M523V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(N215S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN4
(V543L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(N154fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(P607L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(G124S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(G573D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN4
(W198* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, X-linked 49
GPathogenic
CLCN4
(A427T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(P275L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN4
(R221H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCN4
(P586T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLCN4
(L307P +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(D44N)
Single nucleotide variant
(intron variant +1 more)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(S184fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(I157L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(I455T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(D125fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(R629W +1 more)
Single nucleotide variant
(missense variant)
CLCN4-related condition
+2 more
GConflicting classifications of pathogenicity
CLCN4
(A4V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(I574T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN4
(P590L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(G467S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
CLCN4
(T677M +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GBenign/Likely benign
CLCN4
(R360C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(R257G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN4
(A4S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CLCN4
(R718Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CLCN4
(G526S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GConflicting classifications of pathogenicity
CLCN4
(V317I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CLCN4
(V536M +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GPathogenic
CLCN4
(L221V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GPathogenic
CLCN4
(G78S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN4
(G731R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GPathogenic
CLCN4
(D15fs)
Deletion
(frameshift variant +1 more)
Intellectual disability, X-linked 49
GPathogenic
CLCN4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CLCN4
(R718W +1 more)
Single nucleotide variant
(missense variant)
CLCN4-related disorder
+3 more
GConflicting classifications of pathogenicity
CLCN4
(A555V +1 more)
Single nucleotide variant
(missense variant)
CLCN4-related disorder
+3 more
GConflicting classifications of pathogenicity
CLCN4
(G544R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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