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Items: 1 to 100 of 1422

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
LOC129938312, LOC129938313
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937897, LOC129937898
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
LOC129938326, LOC129938327
+1064 more
Copy number gain
See cases
GPathogenic
LOC129938320, LOC129938321
+1041 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+867 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+866 more
Copy number gain
See cases
GPathogenic
LOC110121069, LOC110121110
+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
ACAP2, APOD
+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
+1 more
GConflicting classifications of pathogenicity
OPA1
Single nucleotide variant
(5 prime UTR variant)
OPA1-related disorder
+1 more
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
(R6G)
Single nucleotide variant
(missense 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
(missense variant +1 more)
not provided
+1 more
GUncertain significance
OPA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
OPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OPA1
Single nucleotide variant
(intron variant)
Autosomal dominant optic atrophy classic form
+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 specified
+2 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)
Autosomal dominant optic atrophy classic form
+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)
Autosomal dominant optic atrophy classic form
+3 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
(synonymous variant +1 more)
not provided
GLikely benign
OPA1
(L35P)
Single nucleotide variant
(missense 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)
Abortive cerebellar ataxia
+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)
not provided
+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
(missense variant +1 more)
not provided
GUncertain significance
OPA1
(H42Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
OPA1
(S43P)
Single nucleotide variant
(missense 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)
not provided
+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)
OPA1-related disorder
+1 more
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
(missense 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 provided
+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)
not provided
+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
OPA1
(I78V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
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