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Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC124946344, LOC124946345
+706 more
Copy number gain
See cases
GPathogenic
LOC130010101, LOC130010102
+705 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+638 more
Copy number gain
See cases
GPathogenic
LOC130010039, LOC130010040
+369 more
Copy number gain
See cases
GPathogenic
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+369 more
Copy number loss
See cases
GPathogenic
LOC130010172, LOC130010173
+367 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+360 more
Copy number gain
See cases
GPathogenic
GAS6-AS1, GAS6-DT
+363 more
Copy number loss
See cases
GPathogenic
LOC121468007, LOC121838584
+339 more
Copy number loss
See cases
GPathogenic
LINC00399, LINC00443
+152 more
Copy number gain
See cases
GUncertain significance
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+332 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+325 more
Copy number gain
See cases
GUncertain significance
LOC116268457, LOC121468007
+321 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+318 more
Copy number loss
See cases
GPathogenic
LOC130010165, LOC130010166
+312 more
Copy number loss
Chromosome 13q33-q34 deletion syndrome
GPathogenic
ABHD13, ADPRHL1
+302 more
Copy number loss
See cases
GPathogenic
LOC130010121, LOC130010122
+156 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ANKRD10
+271 more
Copy number loss
See cases
GPathogenic
LOC130010213, LOC130010214
+261 more
Deletion
Factor VII deficiency
+1 more
GPathogenic
ANKRD10, ANKRD10-IT1
+73 more
Copy number gain
See cases
GUncertain significance
ABHD13, ADPRHL1
+66 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+54 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+39 more
Copy number gain
not specified
GUncertain significance
ABHD13, ADPRHL1
+53 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+42 more
Copy number loss
not specified
GPathogenic
ANKRD10, ANKRD10-IT1
+98 more
Copy number loss
not provided
GPathogenic
GPR18, GRTP1
+121 more
Copy number gain
not provided
GPathogenic
TBC1D4, TEX29
+129 more
Copy number gain
not provided
GPathogenic
ABHD13, ADPRHL1
+67 more
Copy number gain
not provided
GPathogenic
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+116 more
Copy number gain
not provided
GPathogenic
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+93 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ADPRHL1, ANKRD10
+35 more
Copy number loss
Neurodevelopmental delay
GPathogenic
ABHD13, ADPRHL1
+42 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+62 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+96 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+97 more
Copy number gain
not specified
GPathogenic
DCUN1D2, ERCC5
+101 more
Copy number loss
not specified
GPathogenic
MIR18A, MIR19A
+104 more
Copy number gain
not specified
GPathogenic
ACOD1, ADPRHL1
+129 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ANKRD10, ANKRD10-IT1
+17 more
Deletion
Factor VII deficiency
+1 more
GLikely pathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
ITGBL1, LIG4
+58 more
Deletion
Distal monosomy 13q
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+55 more
Deletion
not provided
GPathogenic
ANKRD10, ANKRD10-IT1
+3 more
Copy number gain
not provided
GUncertain significance
LINC00567, ANKRD10-IT1
+11 more
Copy number loss
not provided
GUncertain significance
DCUN1D2, TMEM255B
+42 more
Copy number loss
not provided
GPathogenic
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
CDC16, NALCN
+142 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ADPRHL1, ANKRD10
+36 more
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+86 more
Copy number gain
not provided
GUncertain significance
ABHD13, ADPRHL1
+40 more
Deletion
not provided
Gnot provided
ABHD13, ADPRHL1
+56 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+103 more
Copy number gain
not provided
GPathogenic
ARGLU1, COL4A1
+24 more
Copy number loss
not provided
GPathogenic
CUL4A, GRTP1
+40 more
Copy number loss
not provided
GPathogenic
PCID2, TUBGCP3
+39 more
Copy number gain
not provided
GPathogenic
CDC16, MCF2L
+36 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+77 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+137 more
Copy number gain
See cases
GPathogenic
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