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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
Deletion
(nonsense +1 more)
ABCA4-Related Disorders
+5 more
GPathogenic
ABCA4
(G1961E +1 more)
Single nucleotide variant
(missense variant)
Macular dystrophy
+13 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
ABCA4
(C1490Y +1 more)
Single nucleotide variant
(missense variant)
ABCA4-Related Disorders
+5 more
GPathogenic
ABCA4
(A1038V +1 more)
Single nucleotide variant
(missense variant)
ABCA4-Related Disorders
+10 more
GPathogenic/Likely pathogenic
ABCA4
(L541P)
Single nucleotide variant
(missense variant)
Macular dystrophy
+7 more
GPathogenic/Likely pathogenic
USH2A
(N4101del)
Microsatellite
(inframe_deletion)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Usher syndrome
+11 more
GPathogenic
USH2A
(W3521R)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+6 more
GPathogenic/Likely pathogenic
USH2A
(C3090*)
Single nucleotide variant
(nonsense)
Rod-cone dystrophy
+4 more
GPathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
USH2A
(N2651fs)
Duplication
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS1
(A1312fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
+1 more
GPathogenic/Likely pathogenic
OPA1
Deletion
(splice acceptor variant)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
+8 more
GPathogenic/Likely pathogenic
PDE6B, PDE6B-AS1
(C270*)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+3 more
GPathogenic
RP1L1
(S1199A)
Single nucleotide variant
(missense variant)
Macular dystrophy
+2 more
GConflicting classifications of pathogenicity
HK1
(E847K +6 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PRPF31
Single nucleotide variant
(splice donor variant)
Retinal dystrophy
+2 more
GPathogenic
RPGR
Deletion
(frameshift variant +1 more)
Retinal dystrophy
GPathogenic
RPGR
(G753fs)
Microsatellite
(frameshift variant +1 more)
Retinitis pigmentosa 3
+4 more
GPathogenic
RPGR
(R408fs +2 more)
Deletion
(frameshift variant +2 more)
X-linked cone-rod dystrophy 1
+1 more
GPathogenic/Likely pathogenic
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