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Items: 31

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
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
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
CDH4, HRH3
+30 more
Copy number gain
See cases
GUncertain significance
ADRM1, ARFGAP1
+198 more
Duplication
not specified
GUncertain significance
LOC121853018, LOC126863082
+9 more
Copy number gain
See cases
GBenign
PSMA7
(K193R)
Single nucleotide variant
(missense variant)
PSMA7-related disorder
GUncertain significance
PSMA7
(D178Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSMA7
(K174T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSMA7
(A112D)
Single nucleotide variant
(missense variant)
Variant of unknown significance
GUncertain significance
PSMA7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PSMA7
(N85S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSMA7
Single nucleotide variant
(intron variant)
not provided
GBenign
PSMA7
(R60W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
ABHD16B, ADRM1
+63 more
Copy number gain
not provided
GUncertain significance
OGFR, OPRL1
+64 more
Copy number gain
not specified
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
MTG2, LAMA5
+6 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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