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Links from MedGen

Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJC2
(R35H)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
(G236R)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(Y272H)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
(V274L)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
+1 more
GConflicting classifications of pathogenicity
GJC2
(A98D)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
(A161fs)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(Y68C)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
+1 more
GPathogenic/Likely pathogenic
GJC2
(H252R)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(H132fs)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(V254M)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
GLikely pathogenic
GJC2
(V85A)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(L74fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(R101L)
Single nucleotide variant
(missense variant)
Spastic ataxia
+2 more
GConflicting classifications of pathogenicity
GJC2
(H17fs)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(T21I)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
(D366fs)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
(T191fs)
Insertion
(frameshift variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
Deletion
(inframe_deletion)
Spastic paraplegia
GUncertain significance
GJC2
(G303fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
(T195fs)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(C245S)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(A40P)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(Q295*)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(R386fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(P73T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
GJC2
(C256W)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GUncertain significance
GJC2
(G149S)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
+1 more
GConflicting classifications of pathogenicity
GJC2
(A379fs)
Deletion
(frameshift variant)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
GJC2
(N65del)
Deletion
(inframe_deletion)
not specified
GUncertain significance
GJC2
(I36fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 2
+2 more
GConflicting classifications of pathogenicity
GJC2
(H412Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
GJC2
(S392C)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(A325fs)
Duplication
(frameshift variant)
Abnormality of the nervous system
+2 more
GPathogenic/Likely pathogenic
SNAP29
(L119fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SNAP29
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
GJC2
(W27fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
GCDH
(R386*)
Single nucleotide variant
(nonsense +1 more)
Hypomyelinating leukodystrophy 2
+2 more
GPathogenic
GJC2
Single nucleotide variant
Spastic paraplegia
GUncertain significance
GJC2
(E263K)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
Single nucleotide variant
Spastic paraplegia
+1 more
GPathogenic
GJC2
(Y232*)
Insertion
(nonsense)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(P305fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GJC2
(Y272D)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(R240*)
Single nucleotide variant
(nonsense)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(P330fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(P90S)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GPathogenic
GJC2
(M286T)
Single nucleotide variant
(missense variant)
See cases
GPathogenic
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