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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+1266 more
Copy number gain
See cases
GPathogenic
ASXL3, B4GALT6
+167 more
Copy number loss
See cases
GPathogenic
ASXL3, B4GALT6
+146 more
Copy number gain
See cases
GPathogenic
ASXL3, C18orf21
+129 more
Copy number loss
See cases
GPathogenic
ACAA2, ADNP2
+1005 more
Copy number gain
See cases
GPathogenic
ASXL3, C18orf21
+84 more
Copy number loss
See cases
GLikely pathogenic
LOC110120900, LOC110120940
+99 more
Copy number loss
See cases
GPathogenic
C18orf21, CELF4
+75 more
Copy number gain
See cases
GPathogenic
ASXL3, B4GALT6
+35 more
Copy number loss
not provided
GPathogenic
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
DLGAP1, DLGAP1-AS2
+174 more
Deletion
Intellectual disability
GPathogenic
MAPRE2, TSHZ1
+176 more
Copy number gain
not provided
GPathogenic
AQP4, ASXL3
+35 more
Copy number loss
See cases
GPathogenic
ACAA2, ANKRD29
+97 more
Copy number gain
not provided
GPathogenic
C18orf21, ELP2
+7 more
Copy number gain
not provided
GUncertain significance
AQP4, ASXL3
+40 more
Copy number loss
not provided
GPathogenic
ASXL3, C18orf21
+22 more
Copy number loss
not provided
GPathogenic
C18orf21, GALNT1
+4 more
Copy number gain
not provided
GUncertain significance
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+150 more
Copy number gain
See cases
GPathogenic
ANKRD29, AQP4
+56 more
Copy number loss
See cases
GPathogenic
ARK2C, ARK2N
+62 more
Copy number gain
See cases
GLikely benign
ABHD3, ADCYAP1
+157 more
Copy number gain
See cases
GPathogenic
ASXL3, C18orf21
+19 more
Copy number loss
See cases
GLikely pathogenic
ABHD3, ACAA2
+163 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+142 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
TNFRSF11A, TXNL1
+267 more
Copy number gain
See cases
GPathogenic
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