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Items: 1 to 100 of 480

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
LOC129929074, LOC129929075
+520 more
Copy number loss
See cases
GPathogenic
LOC129929144, LOC129929145
+458 more
Copy number loss
See cases
GPathogenic
LOC129929179, LOC129929180
+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
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
LOC126805576, LOC126805577
+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
ACAP3, ACTRT2
+273 more
Copy number loss
See cases
GPathogenic
B3GALT6
Single nucleotide variant
not provided
GLikely benign
B3GALT6
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
B3GALT6
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
B3GALT6
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
B3GALT6
(M1V)
Single nucleotide variant
(missense variant +1 more)
B3GALT6-related condition
+3 more
GPathogenic
B3GALT6
(M1T)
Single nucleotide variant
(missense variant +1 more)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GPathogenic
B3GALT6
(M1K)
Single nucleotide variant
(missense variant +1 more)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely pathogenic
B3GALT6
(M1I)
Single nucleotide variant
(missense variant +1 more)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GPathogenic
B3GALT6
(L3V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GLikely benign
B3GALT6
(L4V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Microsatellite
(inframe_insertion)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
Duplication
(inframe_insertion)
not provided
+2 more
GBenign
B3GALT6
Duplication
(inframe_insertion)
not provided
+2 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GLikely benign
B3GALT6
(R5W)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
(R6W)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(R6Q)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+5 more
GUncertain significance
B3GALT6
(L14fs)
Duplication
(frameshift variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(W8G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
B3GALT6
(L14fs)
Microsatellite
(frameshift variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(R9L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(R10W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
B3GALT6
(R11W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
(A12G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
(A13G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(L14V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
B3GALT6
(G15S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
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