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 546

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01892, LINC01895
+379 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+373 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+378 more
Copy number loss
See cases
GPathogenic
LINC00668, LINC01254
+379 more
Copy number gain
See cases
GPathogenic
LOC105372173, LOC105372179
+1646 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+368 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+300 more
Copy number gain
See cases
GUncertain significance
ADCYAP1, AFG3L2
+374 more
Copy number loss
See cases
GPathogenic
LOC105372069, LOC105372071
+1643 more
Copy number gain
See cases
GPathogenic
LINC00470, LINC00526
+367 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number gain
See cases
GPathogenic
LOC125368546, LOC125368547
+368 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC130062172, LOC130062173
+368 more
Copy number gain
See cases
GPathogenic
RAB31, RALBP1
+374 more
Copy number gain
See cases
GPathogenic
LOC121852961, LOC121852962
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LOC130062369, LOC130062370
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC130062321, LOC130062322
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+327 more
Copy number loss
See cases
GPathogenic
LOC130062212, LOC130062213
+344 more
Copy number loss
See cases
GPathogenic
LOC130062687, LOC130062688
+1642 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+375 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+358 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
CDH7, CELF4
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062768, LOC130062769
+1642 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
LOC130062147, LOC130062148
+339 more
Copy number gain
See cases
GPathogenic
LOC130062178, LOC130062179
+164 more
Copy number loss
See cases
GLikely pathogenic
ABHD3, AFG3L2
+322 more
Copy number gain
See cases
GPathogenic
AFG3L2, ANKRD62
+137 more
Copy number gain
See cases
GPathogenic
AFG3L2, ANKRD62
+23 more
Copy number gain
See cases
GPathogenic
AFG3L2, CIDEA
+11 more
Copy number gain
Autism spectrum disorder
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GBenign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
+1 more
GBenign/Likely benign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
TUBB6, AFG3L2
Single nucleotide variant
(3 prime UTR variant)
AFG3L2-related condition
+2 more
GBenign
AFG3L2, TUBB6
Single nucleotide variant
(stop lost +1 more)
Spastic ataxia 5
+1 more
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(stop lost +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AFG3L2, TUBB6
Duplication
(frameshift variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
AFG3L2, TUBB6
(Y605C)
Duplication
(frameshift variant +2 more)
Optic atrophy
GPathogenic
AFG3L2, TUBB6
(G792A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AFG3L2, TUBB6
(P791L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6, AFG3L2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AFG3L2, TUBB6
(K787E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AFG3L2, TUBB6
(E784K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
(R783Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
(R783W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AFG3L2, TUBB6
(E782D)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
(L776P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AFG3L2, TUBB6
(L772I)
Single nucleotide variant
(missense variant +1 more)
Spastic ataxia 5
+3 more
GUncertain significance
AFG3L2, TUBB6
(L772F)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
AFG3L2, TUBB6
(S771L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
AFG3L2, TUBB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
(A751V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AFG3L2, TUBB6
(P747A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
(D740H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
(D740Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
(E732G)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
TUBB6, AFG3L2
(L729V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant +1 more)
AFG3L2-related condition
GLikely benign
AFG3L2
Single nucleotide variant
(intron variant)
not provided
GBenign
AFG3L2
Microsatellite
(intron variant)
not provided
GLikely benign
AFG3L2
Single nucleotide variant
(intron variant)
not provided
GBenign
AFG3L2
Single nucleotide variant
(intron variant)
not provided
GBenign
AFG3L2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AFG3L2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
AFG3L2
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 28
GLikely benign
AFG3L2
(E724D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFG3L2
(V723L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFG3L2
(V723M)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
AFG3L2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AFG3L2
(K719fs)
Deletion
(frameshift variant)
not provided
GPathogenic
AFG3L2
(K719R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(T717I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFG3L2
(L715F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(A714T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AFG3L2
(R711I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFG3L2
(K710I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AFG3L2
(I705T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
+1 more
GConflicting classifications of pathogenicity
AFG3L2
(R702Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AFG3L2
(R702*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
AFG3L2
(V701I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AFG3L2
(E700K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AFG3L2
Duplication
(inframe_insertion)
not provided
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination