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Items: 1 to 100 of 175

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCYAP1, AFG3L2
+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
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+368 more
Copy number loss
See cases
GPathogenic
LOC129390958, LOC130062070
+300 more
Copy number gain
See cases
GUncertain significance
NDUFV2-AS1, PIEZO2
+374 more
Copy number loss
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062167, LOC130062168
+367 more
Copy number loss
See cases
GPathogenic
LOC125338465, LOC125338466
+367 more
Copy number gain
See cases
GPathogenic
LOC130062104, LOC130062105
+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
LOC130062144, LOC130062145
+368 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC126862732, LOC126862733
+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
ADCYAP1, AFG3L2
+344 more
Copy number loss
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SLC35G4, SMCHD1
+375 more
Copy number gain
See cases
GPathogenic
LOC129390955, LOC129390956
+358 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+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
AFG3L2, ANKRD12
+164 more
Copy number loss
See cases
GLikely pathogenic
LOC130062208, LOC130062209
+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
TUBB6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TUBB6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TUBB6
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
LOC130062196, TUBB6
(A9S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130062196, TUBB6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC130062197, TUBB6
(I30M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC130062197, TUBB6
(D31V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TUBB6
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
TUBB6
(R5Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TUBB6
(R14Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TUBB6
(H33Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TUBB6
(G109D +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TUBB6
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
TUBB6
(R121G +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TUBB6
(E125D +3 more)
Single nucleotide variant
(missense variant +2 more)
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
GUncertain significance
TUBB6
(T99S +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TUBB6
Single nucleotide variant
(synonymous variant +2 more)
TUBB6-related disorder
GLikely benign
TUBB6
(V104I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(M105K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(V34M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
Single nucleotide variant
(synonymous variant +1 more)
TUBB6-related disorder
GBenign
TUBB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TUBB6
(E198K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(E198V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(D138N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(G158R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(V164D +4 more)
Single nucleotide variant
(missense variant +1 more)
TUBB6-related disorder
GUncertain significance
TUBB6
(R116H +4 more)
Single nucleotide variant
(missense variant +1 more)
TUBB6-related disorder
GUncertain significance
TUBB6
(R239H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(T166A +4 more)
Single nucleotide variant
(missense variant +1 more)
TUBB6-related disorder
GBenign
TUBB6
(R287C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(S219C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(F306L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(F239I +4 more)
Single nucleotide variant
(missense variant +1 more)
Ptosis
GLikely pathogenic
TUBB6
(R245H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TUBB6
(F394S +4 more)
Single nucleotide variant
(missense variant +1 more)
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
GPathogenic
TUBB6
(E264K +4 more)
Single nucleotide variant
(missense variant +1 more)
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
GUncertain significance
TUBB6
Single nucleotide variant
(synonymous variant +1 more)
TUBB6-related disorder
GLikely benign
TUBB6
(D293N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
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)
not provided
+1 more
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)
Spastic ataxia 5
+3 more
GBenign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
not provided
+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
TUBB6, AFG3L2
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
(G792fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
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
AFG3L2, TUBB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AFG3L2, TUBB6
(K787E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+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
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