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 109

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
ADCYAP1, AKAIN1
+237 more
Copy number loss
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, AKAIN1
+245 more
Copy number loss
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
ADCYAP1, AKAIN1
+241 more
Copy number loss
See cases
GPathogenic
AKAIN1, ANKRD12
+246 more
Copy number loss
See cases
GPathogenic
LOC130062147, LOC130062148
+339 more
Copy number gain
See cases
GPathogenic
AKAIN1, ANKRD12
+230 more
Copy number gain
See cases
GPathogenic
ANKRD12, GACAT2
+67 more
Copy number loss
See cases
GPathogenic
AFG3L2, ANKRD12
+164 more
Copy number loss
See cases
GLikely pathogenic
LOC130062208, LOC130062209
+322 more
Copy number gain
See cases
GPathogenic
ANKRD12, LOC130062140
+20 more
Copy number gain
See cases
GUncertain significance
TWSG1
(P48L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TWSG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TWSG1
(D68E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TWSG1
(P151L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TWSG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TWSG1
(M222T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCYAP1, AFG3L2
+63 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
not specified
GPathogenic
AFG3L2, AKAIN1
+51 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AKAIN1
+38 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+64 more
Copy number loss
not provided
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not provided
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
AFG3L2, ANKRD12
+22 more
Duplication
Dystonic disorder
GUncertain significance
ANKRD12, MTCL1
+5 more
Copy number loss
not provided
GUncertain significance
ADCYAP1, AKAIN1
+41 more
Copy number loss
not provided
GPathogenic
METTL4, MPPE1
+64 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+38 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
FAM210A, LAMA1
+65 more
Copy number gain
not provided
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
TUBB6, TWSG1
+58 more
Copy number loss
not specified
GPathogenic
ABHD3, ADCYAP1
+95 more
Copy number gain
not provided
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
AKAIN1, LIPG
+174 more
Deletion
Intellectual disability
GPathogenic
AFG3L2, AKAIN1
+50 more
Deletion
Deletion of short arm of chromosome 18
GPathogenic
MTCL1, CIDEA
+36 more
Copy number loss
not provided
GPathogenic
MYL12B, FAM210A
+65 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
not provided
GPathogenic
MC2R, ZBTB14
+65 more
Copy number loss
not provided
GPathogenic
CEP192, TUBB6
+65 more
Copy number loss
not provided
GPathogenic
RAB12, RAB31
+62 more
Copy number loss
not provided
GPathogenic
AKAIN1, EPB41L3
+31 more
Copy number loss
not provided
GPathogenic
PPP4R1, RALBP1
+2 more
Copy number loss
not provided
GUncertain significance
MTCL1, TWSG1
+6 more
Copy number gain
not provided
GUncertain significance
TWSG1, ANKRD12
+1 more
Copy number gain
not provided
GLikely benign
ANKRD12, LRRC30
+5 more
Copy number loss
not provided
GUncertain significance
NDUFV2, POTEC
+65 more
Copy number gain
not provided
GPathogenic
DLGAP1, ZNF519
+65 more
Copy number loss
not provided
GPathogenic
PSMG2, SMCHD1
+65 more
Copy number gain
not provided
GPathogenic
LPIN2, SLC35G4
+55 more
Copy number gain
not provided
GPathogenic
DLGAP1-AS2, SMCHD1
+54 more
Copy number loss
not provided
GPathogenic
LRRC30, USP14
+38 more
Copy number loss
not provided
GPathogenic
PTPRM, TWSG1
+6 more
Copy number gain
not provided
GUncertain significance
GNAL, IMPA2
+65 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
See cases
GPathogenic
AKAIN1, ANKRD12
+23 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination