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Links from Gene

Items: 1 to 100 of 148

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN, B3GALT6
+9 more
Duplication
Combined immunodeficiency due to OX40 deficiency
GUncertain significance
ACAP3, ACTRT2
+76 more
Copy number gain
not specified
GPathogenic
RNF207, RNF223
+108 more
Copy number loss
not specified
GPathogenic
MMEL1, PEX10
+53 more
Copy number gain
not provided
GUncertain significance
AGRN, B3GALT6
+17 more
Copy number gain
not provided
GUncertain significance
SCNN1D, SDF4
+67 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+116 more
Copy number loss
not provided
GPathogenic
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
ACAP3, ACTRT2
+79 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+65 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
AGRN, B3GALT6
+9 more
Duplication
Congenital myasthenic syndrome 8
GUncertain significance
ACAP3, ACOT7
+159 more
Copy number loss
not provided
GPathogenic
AGRN, B3GALT6
+15 more
Copy number gain
not provided
GUncertain significance
ACAP3, ACTRT2
+63 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+60 more
Copy number loss
See cases
GPathogenic
GPR157, H6PD
+124 more
Copy number loss
Chromosome 1p36 deletion syndrome, proximal
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
TNFRSF18, TNFRSF4
+77 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
TMEM240, TMEM88B
+181 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
MIR429, MMEL1
+58 more
Deletion
Left ventricular noncompaction 8
GUncertain significance
AGRN, ANKRD65
+58 more
Deletion
Left ventricular noncompaction 8
GUncertain significance
ATAD3A, ACAP3
+74 more
Deletion
Peroxisome biogenesis disorder, complementation group 7
GPathogenic
DNAJC11, DVL1
+101 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, AGRN
+62 more
Copy number loss
not provided
GPathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
not provided
GPathogenic
AGRN, B3GALT6
+19 more
Duplication
not provided
GUncertain significance
TMEM88B, TNFRSF18
+45 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+80 more
Copy number loss
not provided
GPathogenic
ATAD3B, ATAD3C
+49 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+50 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+45 more
Copy number loss
not provided
GLikely pathogenic
PUSL1, RER1
+98 more
Copy number loss
Harel-Yoon syndrome
GLikely pathogenic
TMEM88B, TTLL10
+58 more
Deletion
Left ventricular noncompaction 8
GUncertain significance
MMP23B, MRPL20
+46 more
Deletion
Congenital myasthenic syndrome 8
GPathogenic
AGRN, B3GALT6
+16 more
Deletion
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
ACAP3, ACTRT2
+66 more
Copy number gain
See cases
GPathogenic
ACAP3, ACTRT2
+77 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+77 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+78 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+98 more
Copy number loss
not provided
GPathogenic
TAS1R3, ATAD3A
+42 more
Copy number loss
not provided
GUncertain significance
AGRN, C1orf159
+14 more
Copy number loss
not provided
GUncertain significance
AGRN, B3GALT6
+11 more
Copy number gain
not provided
GUncertain significance
CFAP74, TNFRSF4
+50 more
Copy number gain
not provided
GUncertain significance
TMEM88B, TNFRSF14
+57 more
Deletion
Shprintzen-Goldberg syndrome
GUncertain significance
ACAP3, ACOT7
+148 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+100 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+119 more
Deletion
Neurodevelopmental disorder
GPathogenic
ACAP3, AGRN
+25 more
Copy number loss
not provided
GLikely pathogenic
CFAP74, CPTP
+62 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
MEGF6, MIB2
+71 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ANKRD65, ARHGEF16
+97 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, ACOT7
+98 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
not provided
GPathogenic
PRKCZ, NADK
+52 more
Copy number loss
not provided
GPathogenic
NOC2L, C1QTNF12
+26 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+68 more
Deletion
Congenital myasthenic syndrome 8
GPathogenic
CCDC27, MIR200B
+79 more
Copy number loss
Primary dilated cardiomyopathy
+2 more
GPathogenic
ACAP3, ACOT7
+106 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+54 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+98 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+77 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+61 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+62 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+88 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+43 more
Copy number gain
See cases
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACAP3, AGRN
+62 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+86 more
Copy number loss
See cases
GPathogenic
ATAD3B, ATAD3A
+76 more
Copy number gain
Distal trisomy 1p36
GPathogenic
C1orf159, CALML6
+71 more
Copy number loss
See cases
GPathogenic
ACAP3, C1orf174
+79 more
Copy number gain
See cases
GPathogenic
ACAP3, ACTRT2
+64 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+62 more
Copy number loss
See cases
GPathogenic
CCNL2, CDK11A
+188 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+162 more
Copy number loss
See cases
GPathogenic
RER1, RERE
+212 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
ACAP3, AGRN
+244 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+146 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+247 more
Copy number loss
See cases
GPathogenic
PUSL1, RER1
+470 more
Copy number loss
See cases
GPathogenic
LOC129929075, LOC129929076
+464 more
Copy number loss
See cases
GPathogenic
LRRC47, MEGF6
+564 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, ACOT7
+578 more
Copy number loss
See cases
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
ACAP3, ACTRT2
+264 more
Copy number loss
See cases
GPathogenic
LOC129929169, LOC129929170
+231 more
Copy number loss
See cases
GPathogenic
VWA1, WRAP73
+341 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+336 more
Copy number loss
See cases
GPathogenic
LOC129929100, MIR200A
+15 more
Copy number loss
See cases
GBenign
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