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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC121627913, LOC121853014
+175 more
Copy number gain
See cases
GLikely pathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
LOC130066383, LOC130066384
+464 more
Copy number gain
See cases
GPathogenic
LOC130066362, LOC130066363
+355 more
Copy number gain
See cases
GPathogenic
LINC02910
Single nucleotide variant
(non-coding transcript variant)
not specified
GUncertain significance
LINC02910
Single nucleotide variant
(non-coding transcript variant)
not specified
GLikely benign
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
LAMA5, LIME1
+88 more
Copy number gain
not specified
GPathogenic
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
BHLHE23, ZGPAT
+87 more
Copy number gain
not provided
GPathogenic
CDH4, CHRNA4
+68 more
Copy number gain
not provided
GPathogenic
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
LINC02910, CDH4
+5 more
Copy number gain
not provided
GUncertain significance
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+116 more
Copy number gain
See cases
GLikely pathogenic
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