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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+769 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
LOC128772366, LOC128772367
+764 more
Copy number gain
See cases
GPathogenic
LOC130006864, LOC130006865
+763 more
Copy number gain
See cases
GPathogenic
LOC130007002, LOC130007003
+499 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+608 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130006995, LOC130006996
+551 more
Copy number loss
See cases
GPathogenic
LOC121832824, LOC124625855
+549 more
Copy number loss
See cases
GPathogenic
ACRV1, ARHGEF12
+255 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
LOC126861375, LOC126861376
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ACRV1, BSX
+166 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+368 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+352 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+343 more
Copy number loss
See cases
GPathogenic
LOC121392954, LOC121832822
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
EI24, STT3A-AS1
(R14K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EI24, STT3A-AS1
(L72F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EI24, STT3A-AS1
(S116L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EI24, STT3A-AS1
(V126M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EI24, STT3A-AS1
(V156I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EI24, STT3A-AS1
(V153I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EI24, STT3A-AS1
(L191F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EI24, STT3A-AS1
(P234S +1 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability
GLikely pathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+92 more
Copy number loss
not specified
GPathogenic
ACAD8, ACRV1
+104 more
Copy number loss
not specified
GPathogenic
ACRV1, BLID
+73 more
Copy number loss
not specified
GPathogenic
CHEK1, EI24
+3 more
Copy number loss
not provided
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
JHY, RPUSD4
+107 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
ACRV1, CCDC15
+56 more
Deletion
not provided
GUncertain significance
ACAD8, ACRV1
+94 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
CDON, ACRV1
+56 more
Duplication
Holoprosencephaly 11
GUncertain significance
ABCG4, ACRV1
+172 more
Copy number gain
not provided
GPathogenic
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
FEZ1, ACRV1
+4 more
Copy number loss
not provided
GUncertain significance
LINC02743, VSIG2
+74 more
Copy number loss
not provided
GPathogenic
ACAD8, ACRV1
+108 more
Copy number loss
not provided
GPathogenic
APLP2, LINC02873
+169 more
Deletion
Anemia
+7 more
GLikely pathogenic
ACAD8, ACRV1
+74 more
Deletion
Paris-Trousseau thrombocytopenia
GPathogenic
CD3G, CDON
+160 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+108 more
Copy number loss
See cases
GPathogenic
BACE1, BACE1-AS
+176 more
Copy number gain
not provided
GPathogenic
ARHGAP32, ARHGEF12
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+51 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+114 more
Copy number loss
not provided
GPathogenic
CHEK1, CLMP
+95 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+108 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+104 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+105 more
Copy number loss
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
See cases
GPathogenic
PATE2, PATE3
+104 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+113 more
Copy number loss
See cases
GPathogenic
CCDC15, CDON
+108 more
Copy number loss
See cases
GPathogenic
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