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Items: 1 to 100 of 2329

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
ATAD3C, AURKAIP1
+520 more
Copy number loss
See cases
GPathogenic
LOC129929144, LOC129929145
+458 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+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
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+337 more
Copy number loss
See cases
GPathogenic
FNDC10, GABRD
+254 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+249 more
Copy number loss
See cases
GPathogenic
ATAD3A, ATAD3B
+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
ACAP3, ACOT7
+449 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+284 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+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
LOC129929082, LOC129929083
+238 more
Copy number loss
See cases
GPathogenic
AGRN, C1orf159
+74 more
Copy number loss
See cases
GUncertain significance
SSU72, TAS1R3
+325 more
Copy number loss
See cases
GPathogenic
LOC129929188, LOC129929189
+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
ACAP3, ACOT7
+470 more
Copy number loss
See cases
GPathogenic
TMEM201, TMEM240
+806 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+490 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
PLEKHN1, PRDM16
+441 more
Copy number loss
See cases
GPathogenic
MIR200B, MIR429
+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
ACAP3, AGRN
+252 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+244 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+270 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+339 more
Copy number loss
See cases
GPathogenic
LOC129929181, LOC129929182
+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
LOC129929093, LOC129929094
+274 more
Copy number loss
See cases
GPathogenic
SNORD167, SSU72
+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
SCNN1D, SDF4
+246 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+246 more
Copy number gain
See cases
GPathogenic
MIR429, MIR551A
+320 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+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
SDF4, SKI
+464 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+578 more
Copy number loss
See cases
GPathogenic
UBE2J2, VWA1
+247 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+564 more
Copy number loss
See cases
GPathogenic
GNB1-DT, HES4
+277 more
Copy number gain
See cases
GPathogenic
AGRN, C1orf159
+38 more
Copy number gain
See cases
GUncertain significance
ACAP3, AGRN
+146 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+136 more
Copy number loss
See cases
GLikely pathogenic
LOC129929186, LOC129929187
+577 more
Copy number loss
See cases
GPathogenic
LOC121677383, LOC121967042
+277 more
Copy number loss
See cases
GPathogenic
LOC132088688, LOC132088689
+264 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+231 more
Copy number loss
See cases
GPathogenic
AGRN, HES4
+35 more
Copy number gain
See cases
GBenign
ACAP3, AGRN
+168 more
Copy number gain
See cases
GLikely benign
AGRN, HES4
+29 more
Copy number gain
See cases
GBenign
AGRN, PERM1
Deletion
(splice acceptor variant +1 more)
Congenital myasthenic syndrome 8
GPathogenic
AGRN, HES4
+22 more
Copy number gain
See cases
GBenign
AGRN, HES4
+20 more
Copy number gain
See cases
GBenign
ACAP3, AGRN
+137 more
Copy number loss
See cases
GPathogenic
AGRN, LOC129929075
Single nucleotide variant
not provided
GBenign
AGRN, LOC129929075
Single nucleotide variant
not provided
GBenign
AGRN
Deletion
not provided
GBenign
AGRN
Deletion
not provided
GBenign
AGRN
Microsatellite
not provided
GLikely benign
LOC126805576, LOC126805577
+68 more
Deletion
Congenital myasthenic syndrome 8
GPathogenic
AGRN
(A2D)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(R4W)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(R4P)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+2 more
GBenign
AGRN
(P7R)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(P7L)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
GLikely benign
AGRN
(G8A)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
GLikely benign
AGRN
Deletion
(inframe_deletion)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
GLikely benign
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
GLikely benign
AGRN
(L10M)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(R11Q)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(R11L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGRN
Duplication
(inframe_insertion)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(P12S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
GLikely benign
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
GLikely benign
AGRN
(L13V)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(P15L)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(P15R)
Indel
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(P15R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+1 more
GBenign
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