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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJC2
(E207K)
Single nucleotide variant
(missense variant)
Lymphatic malformation 3
GUncertain significance
GJC2
(R203C)
Single nucleotide variant
(missense variant)
Lymphatic malformation 3
GUncertain significance
GJC2
(R11P)
Single nucleotide variant
(missense variant)
Lymphatic malformation 3
GUncertain significance
GJC2
(E171A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJC2
(A306fs)
Duplication
(frameshift variant)
Lymphatic malformation 3
+1 more
GUncertain significance
GJC2
(E50K)
Single nucleotide variant
(missense variant)
Lymphatic malformation 3
GUncertain significance
GJC2
Deletion
(inframe_deletion)
Spastic paraplegia
GUncertain significance
GJC2
(A400E)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
GJC2
(I36fs)
Deletion
(frameshift variant)
Hypomyelinating leukodystrophy 2
+2 more
GConflicting classifications of pathogenicity
GJC2
(H412Y)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+7 more
GUncertain significance
GJC2
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+6 more
GBenign/Likely benign
GJC2
(R260C)
Single nucleotide variant
(missense variant)
Lymphatic malformation 3
GPathogenic
GJC2
(S48L)
Single nucleotide variant
(missense variant)
Lymphatic malformation 3
GPathogenic
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