U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LOC121967050, LOC121967051
+520 more
Copy number loss
See cases
GPathogenic
LOC129929262, LOC129929263
+458 more
Copy number loss
See cases
GPathogenic
LOC129929093, LOC129929110
+282 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+336 more
Copy number loss
See cases
GPathogenic
LINC01786, LINC02593
+338 more
Copy number gain
See cases
GPathogenic
TMEM240, TMEM88B
+181 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
LOC129929191, LOC129929192
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+337 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+254 more
Copy number loss
See cases
GPathogenic
LOC129929104, LOC129929105
+249 more
Copy number loss
See cases
GPathogenic
VWA1, WRAP73
+341 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+243 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+275 more
Copy number loss
See cases
GPathogenic
CEP104, CFAP74
+449 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+284 more
Copy number loss
See cases
GPathogenic
LOC129929084, LOC129929085
+320 more
Copy number gain
See cases
GLikely pathogenic
ACAP3, ACTRT2
+337 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+238 more
Copy number gain
See cases
GUncertain significance
ACAP3, AGRN
+238 more
Copy number loss
See cases
GPathogenic
AGRN, C1orf159
+74 more
Copy number loss
See cases
GUncertain significance
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+332 more
Copy number gain
See cases
GPathogenic
AGRN, B3GALT6
+75 more
Copy number gain
See cases
GPathogenic
ACAP3, AGRN
+244 more
Copy number loss
See cases
GPathogenic
PUSL1, RER1
+470 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+806 more
Copy number loss
See cases
GPathogenic
LOC129929192, LOC129929193
+490 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+441 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+205 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+329 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+401 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+292 more
Copy number loss
See cases
GPathogenic
LOC129929161, LOC129929162
+252 more
Copy number loss
See cases
GPathogenic
LOC129929114, LOC129929115
+244 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+270 more
Copy number loss
See cases
GPathogenic
LINC01786, LINC02593
+339 more
Copy number loss
See cases
GPathogenic
LOC129929237, LOC129929238
+401 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+260 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+341 more
Copy number gain
See cases
GPathogenic
ACAP3, ACTRT2
+274 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+234 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+237 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+519 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+246 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+246 more
Copy number gain
See cases
GPathogenic
ACAP3, ACTRT2
+320 more
Copy number loss
See cases
GPathogenic
LOC126805582, LOC129388419
+253 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+198 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+328 more
Copy number loss
See cases
GPathogenic
LOC129929075, LOC129929076
+464 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+578 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+247 more
Copy number loss
See cases
GPathogenic
LRRC47, MEGF6
+564 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+277 more
Copy number gain
See cases
GPathogenic
ACAP3, AGRN
+146 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+136 more
Copy number loss
See cases
GLikely pathogenic
LOC129929302, LOC129929303
+577 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+277 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+264 more
Copy number loss
See cases
GPathogenic
LOC129929169, LOC129929170
+231 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+168 more
Copy number gain
See cases
GLikely benign
ACAP3, AGRN
+137 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+68 more
Deletion
Congenital myasthenic syndrome 8
GPathogenic
ACAP3, ACTRT2
+301 more
Copy number loss
See cases
GPathogenic
ACAP3, ANKRD65
+209 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+273 more
Copy number loss
See cases
GPathogenic
LOC129929100, MIR200A
+15 more
Copy number loss
See cases
GBenign
TTLL10, TTLL10-AS1
(R7Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10, TTLL10-AS1
(R12W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10, TTLL10-AS1
(R12P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10, TTLL10-AS1
(P14S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10, TTLL10-AS1
(R17W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTLL10, TTLL10-AS1
(T18I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10, TTLL10-AS1
(R19Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TTLL10, TTLL10-AS1
(R24M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTLL10, TTLL10-AS1
(R37Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination