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Items: 1 to 100 of 593

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937446, LOC129937447
+1343 more
Copy number gain
See cases
GPathogenic
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
LOC126806816, LOC126806817
+484 more
Copy number gain
See cases
GUncertain significance
ABTB1, ACAD11
+248 more
Copy number loss
See cases
GLikely pathogenic
RHO
Single nucleotide variant
not provided
GUncertain significance
RHO
Single nucleotide variant
(5 prime UTR variant)
Congenital stationary night blindness autosomal dominant 1
+2 more
GBenign
RHO
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign
RHO
Single nucleotide variant
(5 prime UTR variant)
Congenital stationary night blindness autosomal dominant 1
+1 more
GUncertain significance
RHO
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RHO
(G3D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(T4K)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RHO
(E5G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(G6S)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RHO
(F9V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(F9L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RHO
(V11M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
RHO
(F13fs)
Deletion
(frameshift variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
RHO
(P12R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(F13S)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RHO
(N15D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(N15I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RHO
(N15S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RHO
(N15K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RHO
(N15K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(A16V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
RHO
(T17K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
RHO
(T17M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(G18A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(G18V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(G18D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GConflicting classifications of pathogenicity
RHO
(V20L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(V20I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RHO
(R21P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(R21H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(S22R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GUncertain significance
RHO
(P23T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(P23S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GLikely pathogenic
RHO
(P23A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
GPathogenic
RHO
(P23L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
RHO
(P23H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GPathogenic
RHO
(F24S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(F24C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(F24L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RHO
(F24L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(E25K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(Q28E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RHO
(Q28K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(Q28R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(Q28H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(Y29C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+1 more
GUncertain significance
RHO
(L31P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(A32P)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
RHO
(E33D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(P34L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(W35R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(Q36*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RHO
(M39V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(M39R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(A41T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(A42T)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
RHO
(Y43C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(M44L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(M44T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RHO
(F45L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(L46R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(V49M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(G51R)
Single nucleotide variant
(missense variant)
RHO-related disorder
+1 more
GPathogenic
RHO
(G51V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
RHO
(G51A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
RHO
(P53R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(N55K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(N55K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RHO
(T58*)
Indel
(nonsense)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
RHO
(T58M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RHO
(T58R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(L59F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(L59H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHO
(L59R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GBenign
RHO
(Y60H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RHO
(Y60*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RHO
(Y60*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 4
+1 more
GPathogenic/Likely pathogenic
RHO
(T62N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RHO
(V63I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RHO
(Q64*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RHO
Deletion
(inframe_deletion)
Congenital stationary night blindness autosomal dominant 1
GUncertain significance
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