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Links from MedGen

Items: 1 to 100 of 490

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(A244V +6 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
GUncertain significance
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(P235L +6 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
GUncertain significance
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(R256P)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
AIPL1-related disorder
+1 more
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(R256Q)
Single nucleotide variant
(intron variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Deletion
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(G20fs)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(G257A)
Single nucleotide variant
(intron variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(V48fs +2 more)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(P356S +6 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
GUncertain significance
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(Y37fs +4 more)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(C207* +6 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant)
AIPL1-related disorder
+1 more
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(E140* +4 more)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(M27T +3 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
GUncertain significance
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(V227fs +6 more)
Duplication
(frameshift variant +1 more)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Deletion
(5 prime UTR variant +1 more)
Leber congenital amaurosis 4
GBenign
AIPL1
Single nucleotide variant
(5 prime UTR variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(G30*)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
(D12G +2 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
+1 more
GPathogenic/Likely pathogenic
AIPL1
(L128P +6 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 4
GPathogenic
AIPL1
(R231H +6 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
GLikely pathogenic
AIPL1
Deletion
(intron variant)
Leber congenital amaurosis 4
GPathogenic
AIPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 4
GLikely benign
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