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Items: 1 to 100 of 1457

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
MIR944, MUC20
+557 more
Copy number loss
See cases
GPathogenic
ADIPOQ, ADIPOQ-AS1
+237 more
Copy number loss
See cases
GPathogenic
ATP13A4, ATP13A4-AS1
+180 more
Deletion
Schizophrenia
GLikely pathogenic
ATP13A3, ATP13A3-DT
+226 more
Copy number loss
See cases
GPathogenic
ACAP2, APOD
+411 more
Copy number gain
See cases
GPathogenic
LOC126806930, LOC126806931
+375 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+337 more
Copy number gain
See cases
GPathogenic
ATP13A4, OPA1
Single nucleotide variant
not provided
GLikely benign
ATP13A4, OPA1
Single nucleotide variant
not provided
GLikely benign
OPA1
Single nucleotide variant
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
Autosomal dominant optic atrophy classic form
GBenign
OPA1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
OPA1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant optic atrophy classic form
GUncertain significance
OPA1
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely pathogenic
OPA1
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
OPA1
(W2L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(W2*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
OPA1
(R3*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
OPA1
(R5H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(R6G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(A8S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
+1 more
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
OPA1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
OPA1
Single nucleotide variant
(intron variant)
not provided
GBenign
OPA1
Microsatellite
(intron variant)
not provided
GBenign
OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OPA1
(V13I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
OPA1
(V13G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(Q15K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+5 more
GBenign
OPA1
(L17I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(V18L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
OPA1
(H20Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(I24fs)
Duplication
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
GPathogenic
OPA1
(I24V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
OPA1
(G26E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(P29A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
OPA1
(P29Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
OPA1
(L30P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
OPA1
(L33fs)
Duplication
(5 prime UTR variant +1 more)
not provided
GPathogenic
OPA1
(K32Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(L35P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(V36L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OPA1
Duplication
(5 prime UTR variant +1 more)
Tip-toe gait
GLikely pathogenic
OPA1
Deletion
(inframe_deletion +1 more)
not provided
+12 more
GConflicting classifications of pathogenicity
OPA1
(S37L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(R38*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
OPA1
(R38Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(S39fs)
Insertion
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(S39G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(S39N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(I40V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
OPA1
(H42Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(S43P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(Q51R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(R52*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
OPA1
(R52Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(L55fs)
Duplication
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
GLikely pathogenic
OPA1
(R56S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(T57I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
OPA1
(Q60fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
OPA1
(Q61R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign/Likely benign
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(S63T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(S64F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(L65V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
OPA1
(N67fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
OPA1
(P69A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
OPA1
(R71C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
OPA1
(R71P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
OPA1
(R71H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant optic atrophy classic form
+1 more
GConflicting classifications of pathogenicity
OPA1
(K72T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
OPA1
(K74fs)
Deletion
(5 prime UTR variant +1 more)
OPA1-related disorder
GLikely pathogenic
OPA1
(K74N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(I78fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
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