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Items: 1 to 100 of 285

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
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+332 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
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, 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
LOC129929178, LOC129929179
+195 more
Copy number gain
See cases
GUncertain significance
ACTRT2, ATAD3A
+125 more
Copy number loss
See cases
GPathogenic
ATAD3A, CALML6
+84 more
Copy number gain
See cases
GUncertain significance
LOC129929140, MIB2
Duplication
(frameshift variant)
not provided
GBenign
LOC129929140, MIB2
(A4E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129929140, MIB2
(S13Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129929140, MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129929140, MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129929140, MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129929140, MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129929140, MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129929140, MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
MIB2
(G32S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIB2
(L39V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIB2
(R50C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIB2
(Q55P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIB2
(Q58H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MIB2
(R61C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIB2
(R65C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIB2
(V84I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIB2
(N88I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIB2
(G98A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIB2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MIB2
(A136T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIB2
(S138L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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