U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHM
(E391* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
GPathogenic
CHM
(E99fs)
Deletion
(frameshift variant +1 more)
Choroideremia
GPathogenic
CHM
Deletion
(splice donor variant)
Choroideremia
GLikely pathogenic
CHM, LOC129391306
(E152* +1 more)
Duplication
(nonsense)
Choroideremia
GLikely pathogenic
CHM, LOC129391306
(N129fs)
Deletion
(frameshift variant +1 more)
Choroideremia
GLikely pathogenic
CHM
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
CHM
(Q186fs +1 more)
Insertion
(frameshift variant)
Choroideremia
GPathogenic
CHM
Deletion
(frameshift variant +1 more)
Choroideremia
GPathogenic
CHM
(C362* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
GLikely pathogenic
CHM
Insertion
(nonsense +1 more)
Choroideremia
GLikely pathogenic
CHM
(Y173* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
GLikely pathogenic
CHM
(G248* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
GLikely pathogenic
CHM
(Y43*)
Single nucleotide variant
(nonsense +1 more)
Choroideremia
GLikely pathogenic
CHM
(A24fs)
Insertion
(frameshift variant +1 more)
Choroideremia
GLikely pathogenic
CHM
(S28fs)
Deletion
(frameshift variant +1 more)
Choroideremia
GLikely pathogenic
CHM
(S320fs +1 more)
Deletion
(frameshift variant)
Choroideremia
GLikely pathogenic
CHM
Single nucleotide variant
(stop lost)
not provided
+1 more
GUncertain significance
CHM
(V424I +1 more)
Single nucleotide variant
(missense variant)
Choroideremia
GUncertain significance
CHM, LOC129391306
Duplication
(nonsense +1 more)
Choroideremia
GPathogenic
CHM
(Y103*)
Single nucleotide variant
(nonsense +1 more)
Choroideremia
GLikely pathogenic
CHM, LOC129391306
(L146*)
Single nucleotide variant
(nonsense +1 more)
Choroideremia
+1 more
GPathogenic
CHM
(Y173fs +1 more)
Deletion
(frameshift variant)
Choroideremia
+1 more
GPathogenic
CHM
Single nucleotide variant
(splice acceptor variant)
Choroideremia
GPathogenic/Likely pathogenic
CHM
(Q63*)
Single nucleotide variant
(nonsense +1 more)
Choroideremia
GPathogenic
CHM
(N135* +1 more)
Duplication
(nonsense)
Retinal dystrophy
+1 more
GPathogenic
CHM
Single nucleotide variant
(splice acceptor variant)
Choroideremia
GPathogenic
CHM
Single nucleotide variant
(synonymous variant)
Choroideremia
+1 more
GConflicting classifications of pathogenicity
CHM
Single nucleotide variant
(intron variant)
not provided
GBenign
CHM
Single nucleotide variant
(intron variant)
not provided
GBenign
CHM
(K208* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CHM
(Q138* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
Single nucleotide variant
Choroideremia
GLikely pathogenic
CHM
(Q78*)
Single nucleotide variant
(nonsense +1 more)
Choroideremia
GPathogenic
CHM, LOC129391306
(M149I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CHM
(V69L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CHM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHM, LOC129391306
(D14N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CHM
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CHM
(S28*)
Single nucleotide variant
(nonsense +1 more)
Choroideremia
GLikely pathogenic
CHM
(Q377R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
(E61A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHM, LOC129391306
(A123V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHM
(Q277H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHM
(T4A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CHM
(D10G)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CHM
Single nucleotide variant
(synonymous variant)
CHM-related disorder
+1 more
GLikely benign
CHM
(E168Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
(A2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM, LOC129391306
(L118V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CHM
(Y43H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHM
(L550V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
(I483M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
(R555T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CHM
(S218fs +1 more)
Deletion
(frameshift variant)
Choroideremia
+1 more
GPathogenic
CHM
(N180fs +1 more)
Deletion
(frameshift variant)
Choroideremia
GLikely pathogenic
CHM
(Y551fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
CHM
(G483fs +1 more)
Deletion
(frameshift variant)
Retinal dystrophy
GLikely pathogenic
CHM
(C406Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
(Y321C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
(P309L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHM
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CHM
(L167fs +1 more)
Microsatellite
(frameshift variant)
Choroideremia
GPathogenic
CHM, LOC129391306
(Q157* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
GPathogenic
CHM, LOC129391306
(P140fs)
Deletion
(frameshift variant +1 more)
Choroideremia
GPathogenic
CHM, LOC129391306
(N129fs)
Indel
(5 prime UTR variant +1 more)
Choroideremia
GPathogenic
CHM
Deletion
Choroideremia
GPathogenic
CHM
(P41fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CHM
Single nucleotide variant
(splice donor variant)
Choroideremia
GPathogenic
CHM
(Y290* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
GPathogenic
CHM
Deletion
(intron variant)
Choroideremia
+1 more
GBenign
CHM
(D10fs)
Deletion
(frameshift variant)
Choroideremia
+1 more
GPathogenic
CHM
(D205fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
CHM
(Q377* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
GPathogenic
CHM
(A401P +1 more)
Single nucleotide variant
(missense variant)
Choroideremia
+1 more
GUncertain significance
CHM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHM
(T59A +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHM
(I271V +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
CHM
Microsatellite
(intron variant)
not provided
GBenign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHM
(D3G)
Single nucleotide variant
(missense variant)
not provided
GBenign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CHM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHM
Single nucleotide variant
(intron variant)
not provided
GBenign
CHM
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+1 more
GBenign/Likely benign
CHM
(N601S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CHM
(L80F)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CHM
Inversion
Choroideremia
GPathogenic
CHM
(I73fs +1 more)
Deletion
(frameshift variant)
Choroideremia
GPathogenic
CHM
(E8*)
Single nucleotide variant
(nonsense)
Choroideremia
+1 more
GPathogenic
CHM
(S413fs +1 more)
Deletion
(frameshift variant)
Choroideremia
+1 more
GPathogenic/Likely pathogenic
CHM
(C406* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CHM
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
CHM
(T94fs)
Deletion
(frameshift variant +1 more)
Choroideremia
GPathogenic
Format
Items per page
Sort by
Choose Destination