U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDHR1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
CDHR1
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CDHR1
Single nucleotide variant
(intron variant)
Cone-Rod Dystrophy, Recessive
+3 more
GConflicting classifications of pathogenicity
CDHR1
(D199Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDHR1
Single nucleotide variant
(synonymous variant)
Cone-Rod Dystrophy, Recessive
+5 more
GConflicting classifications of pathogenicity
CDHR1
(P278L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CDHR1
(R378Q)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 15
+3 more
GConflicting classifications of pathogenicity
CDHR1
(S453G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDHR1
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 15
+1 more
GConflicting classifications of pathogenicity
CDHR1
(V491M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDHR1
(N623S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CDHR1
(T626M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDHR1
(R726C)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 15
+1 more
GConflicting classifications of pathogenicity
CDHR1
Single nucleotide variant
(synonymous variant +1 more)
Cone-rod dystrophy 15
+1 more
GConflicting classifications of pathogenicity
CDHR1
(R749fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
CDHR1
(P812S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
CDHR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
CDHR1
(Q824*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CDHR1
(I841fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
CDHR1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
Format
Items per page
Sort by
Choose Destination