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Items: 1 to 100 of 299

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCTPP1, DOC2A
+409 more
Copy number gain
See cases
GPathogenic
LOC130058732, LOC130058733
+504 more
Copy number gain
See cases
GPathogenic
ZNF747, ZNF747-DT
+378 more
Copy number gain
See cases
GPathogenic
LOC125146439, LOC125146440
+179 more
Copy number gain
See cases
GPathogenic
ALDOA, APOBR
+187 more
Copy number loss
See cases
GPathogenic
ALDOA, APOBR
+180 more
Copy number loss
See cases
GPathogenic
ALDOA, APOBR
+186 more
Copy number loss
See cases
GPathogenic
ALDOA, APOBR
+171 more
Copy number gain
See cases
GPathogenic
ALDOA, APOBR
+171 more
Copy number loss
See cases
GPathogenic
LOC130058756, LOC130058757
+170 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+127 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+112 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+108 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+120 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+108 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+108 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+119 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+107 more
Copy number gain
See cases
GPathogenic
LOC130058763, LOC130058764
+107 more
Copy number loss
Proximal 16p11.2 microdeletion syndrome
GPathogenic
ALDOA, ASPHD1
+117 more
Duplication
Autism spectrum disorder
GLikely pathogenic
LOC121847977, LOC130058809
+118 more
Duplication
Autism
GPathogenic
ALDOA, ASPHD1
+105 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+110 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+117 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+117 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+108 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+108 more
Copy number gain
See cases
GPathogenic
LOC130058767, LOC130058768
+119 more
Deletion
See cases
GLikely pathogenic, low penetrance
C16orf54, C16orf92
+105 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+112 more
Copy number gain
See cases
GLikely pathogenic
LOC112352679, LOC112352680
+100 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+112 more
Copy number gain
See cases
GPathogenic
LOC130058785, LOC130058786
+112 more
Duplication
Schizophrenia
GPathogenic
KCTD13, LOC130058798
+112 more
Deletion
Autism
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+100 more
Copy number gain
See cases
GLikely pathogenic
LOC130058783, LOC130058784
+100 more
Deletion
Autism spectrum disorder
GLikely pathogenic
ALDOA, ASPHD1
+100 more
Duplication
Autism spectrum disorder
GLikely pathogenic
ALDOA, ASPHD1
+110 more
Copy number loss
See cases
GUncertain significance
KCTD13, LOC130058800
+104 more
Duplication
Autism
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+110 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+106 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+106 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
LOC130058760, LOC130058761
+111 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
LOC130058769, LOC130058770
+111 more
Copy number gain
See cases
GLikely pathogenic
LOC130058759, LOC130058760
+111 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+104 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+104 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+111 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+104 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+180 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+98 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number gain
See cases
GPathogenic
PRRT2, QPRT
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+111 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+97 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+104 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+97 more
Duplication
Autism spectrum disorder
GLikely pathogenic
ALDOA, ASPHD1
+101 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+108 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+96 more
Copy number gain
See cases
GLikely pathogenic
TBX6, TLCD3B
+99 more
Duplication
Schizophrenia
GPathogenic
ALDOA, ASPHD1
+93 more
Copy number gain
See cases
GLikely pathogenic
LOC130058776, LOC130058777
+99 more
Duplication
Schizophrenia
GPathogenic
C16orf92, CDIPT
+99 more
Deletion
Schizophrenia
GPathogenic
ALDOA, ASPHD1
+99 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+101 more
Deletion
Proximal 16p11.2 microdeletion syndrome
GPathogenic
LOC121587540, LOC121847976
+99 more
Duplication
Autism
+1 more
GPathogenic
LOC112694756, LOC116276452
+101 more
Deletion
Proximal 16p11.2 microdeletion syndrome
GPathogenic
LOC121587541, LOC121847976
+105 more
Copy number loss
Epilepsy syndrome
GPathogenic, low penetrance
ALDOA, ASPHD1
+96 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+96 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+103 more
Copy number gain
See cases
GLikely pathogenic
ALDOA, ASPHD1
+96 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+103 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+94 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+94 more
Copy number gain
See cases
GPathogenic
ALDOA, ASPHD1
+89 more
Copy number loss
See cases
GPathogenic
ALDOA, ASPHD1
+89 more
Copy number gain
See cases
GPathogenic
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