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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH12, RNF14
(S361*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GLikely pathogenic
PCDH12, RNF14
(E1015K)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GUncertain significance
PCDH12
(S1140L)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GUncertain significance
PCDH12
(A1135V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCDH12, RNF14
(V658I)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GUncertain significance
PCDH12, RNF14
(G792R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PCDH12, RNF14
(C104Y)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GLikely pathogenic
PCDH12, RNF14
(Q70fs)
Duplication
(frameshift variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GLikely pathogenic
RNF14, PCDH12
(P684H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCDH12, RNF14
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCDH12, RNF14
(T215P)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GLikely pathogenic
PCDH12, RNF14
(R151*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GPathogenic
PCDH12, RNF14
(Q855*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GPathogenic
PCDH12, RNF14
Single nucleotide variant
(synonymous variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GBenign
PCDH12, RNF14
Single nucleotide variant
(synonymous variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GBenign
PCDH12, RNF14
Single nucleotide variant
(synonymous variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GBenign
PCDH12, RNF14
Single nucleotide variant
(synonymous variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GBenign
PCDH12
Single nucleotide variant
(synonymous variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GBenign
RNF14, PCDH12
Single nucleotide variant
(synonymous variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+2 more
GBenign
PCDH12, RNF14
(C811*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GPathogenic
PCDH12
(R1124C)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+2 more
GUncertain significance
PCDH12
(R1049Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCDH12, RNF14
(P651A)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GUncertain significance
PCDH12, RNF14
(R470W)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+2 more
GUncertain significance
PCDH12, RNF14
(E39*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GLikely pathogenic
PCDH12, RNF14
(Q51R)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GConflicting classifications of pathogenicity
PCDH12, RNF14
(K224fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PCDH12
(D1149Y)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
GUncertain significance
PCDH12
Microsatellite
(inframe_insertion)
not provided
+2 more
GBenign
PCDH12
Single nucleotide variant
Diencephalic-mesencephalic junction dysplasia syndrome 1
GPathogenic
PCDH12, RNF14
(P922fs)
Deletion
(frameshift variant)
Diencephalic-mesencephalic junction dysplasia
GUncertain significance
PCDH12, RNF14
(S838fs)
Deletion
(frameshift variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GPathogenic
PCDH12, RNF14
(R308*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GPathogenic/Likely pathogenic
PCDH12, RNF14
(R912W)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GConflicting classifications of pathogenicity
PCDH12, RNF14
(H385N)
Single nucleotide variant
(missense variant)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+2 more
GBenign
PCDH12, RNF14
(R839*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia syndrome 1
+1 more
GPathogenic
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