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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
LOC126862796, LOC126862797
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
LOC130062613, LOC130062614
+664 more
Copy number loss
See cases
GPathogenic
LOC130062683, LOC130062684
+664 more
Copy number loss
See cases
GPathogenic
C18orf54, CCDC68
+62 more
Copy number loss
See cases
GPathogenic
ALPK2, ATP8B1
+340 more
Copy number loss
See cases
GPathogenic
LOC129391005, LOC129391006
+644 more
Copy number loss
See cases
GPathogenic
LOC130062551, LOC130062552
+636 more
Copy number loss
See cases
GPathogenic
LOC126862818, LOC126862819
+636 more
Copy number gain
See cases
GPathogenic
C18orf54, CCDC68
+33 more
Copy number loss
See cases
GPathogenic
C18orf54
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADNP2, ALPK2
+90 more
Copy number loss
not specified
GPathogenic
C18orf54, CCDC68
+8 more
Copy number gain
not provided
GUncertain significance
C18orf54, CCDC68
+6 more
Copy number gain
not provided
GUncertain significance
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
ALPK2, ATP8B1
+52 more
Copy number loss
not specified
GPathogenic
BOD1L2, C18orf54
+12 more
Copy number loss
not specified
GPathogenic
MAPK4, MBD1
+101 more
Copy number loss
not specified
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
AKAIN1, LIPG
+174 more
Deletion
Intellectual disability
GPathogenic
MAPRE2, TSHZ1
+176 more
Copy number gain
not provided
GPathogenic
DYNAP, C18orf54
+5 more
Copy number gain
See cases
GUncertain significance
BOD1L2, SALL3
+90 more
Copy number loss
not provided
GPathogenic
ACAA2, ALPK2
+66 more
Copy number gain
not provided
GPathogenic
ACAA2, ADNP2
+107 more
Copy number loss
not provided
GPathogenic
ACAA2, ATP5F1A
+55 more
Copy number gain
not provided
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+90 more
Copy number loss
See cases
GLikely pathogenic
LINC01879, LMAN1
+101 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+150 more
Copy number gain
See cases
GPathogenic
TMX3, TNFRSF11A
+128 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+121 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+163 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+142 more
Copy number gain
See cases
GPathogenic
WDR7, ZCCHC2
+109 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
C18orf54, DYNAP
Copy number gain
See cases
GLikely benign
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
TNFRSF11A, TXNL1
+267 more
Copy number gain
See cases
GPathogenic
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