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Links from MedGen

Items: 1 to 100 of 217

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RD3
(R78P)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Duplication
(intron variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Deletion
Leber congenital amaurosis 12
GPathogenic
RD3
(A50V)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(R38Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(T18I)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(V86I)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(T28K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(Q80*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 12
GPathogenic
RD3
(M1V)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(I4T)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(A40V)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(P161S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R99K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(P13fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 12
GPathogenic
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(L144Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(E171Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R156F)
Indel
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(M37I)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
+1 more
GLikely benign
RD3
(A50E)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(A50T)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(stop lost)
Leber congenital amaurosis 12
GUncertain significance
RD3
(V54F)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(P187H)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(S5fs)
Microsatellite
(frameshift variant)
Leber congenital amaurosis 12
GPathogenic
RD3
(G57C)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(M1T)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 12
GUncertain significance
RD3
(A135V)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(G57S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R182L)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(P187A)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(G57V)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R8Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis 12
GPathogenic
RD3
(S149I)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(S69F)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(K193E)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(P21S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(L122R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(P21A)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 12
GBenign
RD3
Deletion
(intron variant)
Leber congenital amaurosis 12
GBenign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 12
GLikely benign
RD3
(Q116H)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(P95L)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(T34M)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R119C)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R78W)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(S170F)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R15W)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
+1 more
GUncertain significance
RD3
(L7H)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R68Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R8W)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(A22D)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R19W)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(P109S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(Q123L)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(E11K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(M30K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(E171K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
(R47H)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(5 prime UTR variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 12
GUncertain significance
RD3
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 12
GUncertain significance
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