U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
PMEL, PPP1R1A
+219 more
Copy number gain
See cases
GPathogenic
RDH5, BLOC1S1-RDH5
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(5 prime UTR variant)
Pigmentary retinal dystrophy
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(5 prime UTR variant)
Pigmentary retinal dystrophy
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
BLOC1S1-RDH5, RDH5
Duplication
(splice donor variant)
Pigmentary retinal dystrophy
GLikely pathogenic
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(intron variant)
not provided
GBenign
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(intron variant)
Pigmentary retinal dystrophy
+1 more
GLikely benign
BLOC1S1-RDH5, RDH5
(L3P)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
BLOC1S1-RDH5, RDH5
(L6fs)
Duplication
(frameshift variant)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(L11F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(L15P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BLOC1S1-RDH5, RDH5
(L18I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(R19K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BLOC1S1-RDH5, RDH5
(R21G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(R21Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(Q22*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
(Q22R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(L24fs)
Deletion
(frameshift variant)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(A26T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(N28D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
BLOC1S1-RDH5, RDH5
(F32fs)
Deletion
(frameshift variant)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
(I33V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BLOC1S1-RDH5, RDH5
(I33T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(T34A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(G35S)
Single nucleotide variant
(missense variant)
Pigmentary retinal dystrophy
+1 more
GPathogenic
BLOC1S1-RDH5, RDH5
(R42C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RDH5, BLOC1S1-RDH5
(R42H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BLOC1S1-RDH5, RDH5
(G52V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RDH5, BLOC1S1-RDH5
(R54*)
Single nucleotide variant
(nonsense)
Pigmentary retinal dystrophy
+1 more
GPathogenic
BLOC1S1-RDH5, RDH5
(R54L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(R54Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BLOC1S1-RDH5, RDH5
(S58N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BLOC1S1-RDH5, RDH5
(S63fs)
Deletion
(frameshift variant)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
(T61I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(P62L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(G64R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(E66K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BLOC1S1-RDH5, RDH5
(D67A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BLOC1S1-RDH5, RDH5
(A72fs)
Duplication
(frameshift variant)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
(R70W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BLOC1S1-RDH5, RDH5
(R70Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(S73F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(R75C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(R75S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(R75H)
Single nucleotide variant
(missense variant)
Pigmentary retinal dystrophy
+1 more
GBenign/Likely benign
BLOC1S1-RDH5, RDH5
(L76I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(T78P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(T78I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(T84fs)
Duplication
(frameshift variant)
Pigmentary retinal dystrophy
GLikely pathogenic
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(D85H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(S88R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(S88R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(V89I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
BLOC1S1-RDH5, RDH5
(K94R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(W95*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
(W95*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
BLOC1S1-RDH5, RDH5
(M98I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(V100I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(intron variant)
Pigmentary retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(L105F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(V109L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(G113V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BLOC1S1-RDH5, RDH5
(V114M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
Insertion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(I118M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(G119R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
BLOC1S1-RDH5, RDH5
(T121I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
BLOC1S1-RDH5, RDH5
(P122S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
BLOC1S1-RDH5, RDH5
(L124P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(R126Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
(D127E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BLOC1S1-RDH5, RDH5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RDH5, BLOC1S1-RDH5
(D128N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination