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Links from MedGen

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GIGYF2, KCNJ13
(S105I +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 16
GLikely pathogenic
GIGYF2, KCNJ13
(Q139* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Leber congenital amaurosis 16
GPathogenic
GIGYF2, KCNJ13
(K86fs +2 more)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 16
GPathogenic
KCNJ13, GIGYF2
(L144P +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
(R162Q +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
(R42P)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GIGYF2, KCNJ13
(M1T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
KCNJ13, GIGYF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
KCNJ13, GIGYF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(5 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
KCNJ13, GIGYF2
Single nucleotide variant
(5 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(5 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
(E80K)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GIGYF2, KCNJ13
(T175I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GBenign
GIGYF2, KCNJ13
(G183D +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Leber congenital amaurosis 16
GUncertain significance
KCNJ13, GIGYF2
Single nucleotide variant
(3 prime UTR variant +2 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
(S230N +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+2 more
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
KCNJ13, GIGYF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(intron variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GBenign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
KCNJ13, GIGYF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GBenign
KCNJ13, GIGYF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 16
GUncertain significance
KCNJ13, GIGYF2
(W53*)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis 16
GPathogenic
GIGYF2, KCNJ13
(T153I +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 16
GLikely pathogenic
GIGYF2, KCNJ13
(I120T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GIGYF2, KCNJ13
(L241P +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Leber congenital amaurosis 16
GPathogenic
GIGYF2, KCNJ13
(R166* +2 more)
Single nucleotide variant
(missense variant +2 more)
Leber congenital amaurosis 16
GPathogenic
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