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Items: 1 to 100 of 614

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
GPHN, RDH12
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+1 more
GBenign/Likely benign
GPHN, RDH12
+1 more
Deletion
Retinal dystrophy
GLikely pathogenic
RDH12, GPHN
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+1 more
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(intron variant)
not provided
GBenign
GPHN, RDH12
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+1 more
GBenign/Likely benign
GPHN, RDH12
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+1 more
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
GUncertain significance
GPHN, RDH12
(M1V)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(M1T)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Duplication
(inframe_insertion)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
RDH12, GPHN
(T9I)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(T9N)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(S10del)
Microsatellite
(inframe_deletion)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(F12del)
Microsatellite
(inframe_deletion)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(F11S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(S13*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 13
GPathogenic
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(L15fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 13
GPathogenic
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(L15R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
Deletion
(nonsense)
Leber congenital amaurosis 13
GLikely pathogenic
GPHN, RDH12
(V18fs)
Duplication
(frameshift variant)
Leber congenital amaurosis 13
GLikely pathogenic
GPHN, RDH12
Deletion
(nonsense)
Leber congenital amaurosis 13
GPathogenic
GPHN, RDH12
(A19T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPHN, RDH12
(A19V)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(I22fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GPHN, RDH12
(P20S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(P20L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis
+1 more
GPathogenic
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GUncertain significance
RDH12, GPHN
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
not provided
GBenign
GPHN, RDH12
Single nucleotide variant
(intron variant)
not provided
GBenign
GPHN, RDH12
Single nucleotide variant
(intron variant)
not provided
GBenign
GPHN, RDH12
Single nucleotide variant
(intron variant)
not provided
GBenign
GPHN, RDH12
Deletion
(intron variant)
not provided
GBenign
GPHN, RDH12
Deletion
(intron variant)
not provided
GBenign
GPHN, RDH12
Single nucleotide variant
(intron variant)
not provided
GBenign
GPHN, RDH12
Deletion
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
+1 more
GLikely benign
RDH12, GPHN
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 13
GUncertain significance
RDH12, GPHN
Deletion
(genic downstream transcript variant)
Leber congenital amaurosis 13
GLikely pathogenic
GPHN, RDH12
Single nucleotide variant
(splice acceptor variant)
Leber congenital amaurosis 13
GLikely pathogenic
GPHN, RDH12
(K24N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(G29R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
+2 more
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(C31Y)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
RDH12, GPHN
(T33I)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(T33fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 13
GPathogenic
GPHN, RDH12
(N34H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(V35L)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(Q36*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 13
GPathogenic
GPHN, RDH12
(Q36H)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
(P38S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
RDH12, GPHN
(V42A)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GLikely pathogenic
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
(T45A)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GPathogenic/Likely pathogenic
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
+1 more
GConflicting classifications of pathogenicity
GPHN, RDH12
(A47T)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
+1 more
GPathogenic/Likely pathogenic
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
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