U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 158

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001865, LOC130001866
+70 more
Copy number loss
See cases
GLikely pathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
APBA1, BANCR
+40 more
Copy number loss
See cases
GPathogenic
ABHD17B, ALDH1A1
+148 more
Copy number loss
See cases
GPathogenic
LOC130001938, LOC130001939
+263 more
Copy number loss
See cases
GPathogenic
ABHD17B, APBA1
+79 more
Copy number gain
See cases
GLikely pathogenic
BANCR, ENTREP1
+23 more
Copy number gain
See cases
GUncertain significance
FXN, LOC108510657
+11 more
Copy number gain
See cases
GUncertain significance
FXN, LOC130001862
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
FXN, LOC130001862
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
FXN, LOC130001862
(M1I)
Single nucleotide variant
(missense variant +1 more)
Friedreich ataxia 1
+1 more
GPathogenic
LOC130001862, FXN
(L4fs)
Microsatellite
(frameshift variant)
Friedreich ataxia 1
+2 more
GPathogenic/Likely pathogenic
FXN, LOC130001862
(G5A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
(L12V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN, LOC130001862
(A14V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
(A14E)
Single nucleotide variant
(missense variant)
not provided
GBenign
FXN, LOC130001862
(P16S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
(S17I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
FXN, LOC130001862
(A19T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
(T23I)
Single nucleotide variant
(missense variant)
not specified
GBenign
FXN, LOC130001862
(L24F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FXN, LOC130001862
(R26W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FXN, LOC130001862
(L33V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
FXN, LOC130001862
(P35L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FXN, LOC130001862
(G38S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
FXN, LOC130001862
(R40C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
FXN, LOC130001862
(L42R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN, LOC130001862
(R43P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN, LOC130001862
(R43H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FXN, LOC130001862
(T44N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FXN, LOC130001862
(D45N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
(T49N)
Single nucleotide variant
(missense variant)
Friedreich ataxia 1
+1 more
GUncertain significance
FXN, LOC130001862
(T51R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN, LOC130001862
(R53fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
FXN, LOC130001862
(A55T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN, LOC130001862
Insertion
(splice donor variant)
not provided
GLikely pathogenic
FXN, LOC108510657
Microsatellite
(intron variant)
Friedreich ataxia 1
GPathogenic
FXN, LOC108510657
Microsatellite
Friedreich ataxia
+1 more
GPathogenic
FXN
Single nucleotide variant
(intron variant)
not provided
GBenign
FXN
Single nucleotide variant
(intron variant)
Friedreich ataxia 1
GLikely pathogenic
FXN
(S57fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FXN
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FXN
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
FXN
(R60C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN
(R60H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FXN
(L62P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
(N67S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN
(Y74C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
(M76V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign
FXN
(M76R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
Single nucleotide variant
(intron variant)
not provided
GBenign
FXN
(Y95*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FXN
(R97K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
(E100A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
(L106S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FXN
(L106*)
Single nucleotide variant
(nonsense)
Friedreich ataxia
GPathogenic
FXN
(E108V)
Indel
(missense variant)
not provided
+1 more
GUncertain significance
FXN
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
FXN
(T119M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FXN
Indel
(inframe_indel)
Friedreich ataxia 1
GPathogenic
FXN
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
FXN
Single nucleotide variant
(intron variant)
not provided
GBenign
FXN
Single nucleotide variant
(intron variant)
not provided
GBenign
FXN
Single nucleotide variant
(intron variant)
not provided
GBenign
FXN
Insertion
(intron variant)
not provided
GBenign
FXN
Insertion
(intron variant)
not provided
GBenign
FXN
Insertion
(intron variant)
not provided
GBenign
FXN
Single nucleotide variant
(intron variant)
not provided
GBenign
FXN
Single nucleotide variant
(intron variant)
not provided
GBenign
APBA1, BANCR
+13 more
Copy number gain
See cases
GLikely benign
FXN, LOC124292588
+5 more
Copy number loss
See cases
GUncertain significance
FXN
Single nucleotide variant
(splice acceptor variant)
Friedreich ataxia
GPathogenic
FXN
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
FXN
(G130V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
FXN
(K135R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
(G138R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FXN
(Y143H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FXN
(N146K)
Single nucleotide variant
(missense variant)
Friedreich ataxia 1
GPathogenic
FXN
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
Format
Items per page
Sort by
Choose Destination