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Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001752, LOC130001753
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001539, LOC130001540
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001810, LOC130001811
+1213 more
Copy number gain
See cases
GPathogenic
BSPRY, C5
+3784 more
Copy number gain
See cases
GPathogenic
LOC113839508, LOC113839509
+3785 more
Copy number gain
See cases
GPathogenic
FKBP15, FKTN
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+1061 more
Copy number gain
See cases
GPathogenic
LOC113839555, LOC113839556
+1119 more
Copy number gain
See cases
GPathogenic
LOC130001667, LOC130001668
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+882 more
Copy number gain
See cases
GPathogenic
PUM3, QNG1
+1366 more
Copy number gain
See cases
GPathogenic
LOC116186942, LOC116186943
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001517, LOC130001518
+484 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+458 more
Copy number gain
See cases
GPathogenic
LOC130001472, LOC130001473
+983 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+898 more
Copy number gain
See cases
GPathogenic
LOC130001652, LOC130001653
+581 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LOC130001648, LOC130001649
+898 more
Copy number gain
See cases
GPathogenic
LOC121366033, LOC121366034
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+538 more
Copy number gain
See cases
GPathogenic
LOC130001520, LOC130001521
+410 more
Copy number gain
See cases
GPathogenic
LOC130001569, LOC130001570
+897 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
SLC1A1, SLC24A2
+461 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+412 more
Copy number gain
See cases
GPathogenic
LOC126860594, LOC126860595
+355 more
Copy number gain
See cases
GPathogenic
LOC130001690, LOC130001691
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+243 more
Copy number gain
See cases
GPathogenic
LOC130001818, LOC130001819
+690 more
Copy number gain
See cases
GPathogenic
C9orf72, CAAP1
+136 more
Copy number loss
See cases
GPathogenic
CDKN2A, CDKN2A-AS1
+78 more
Duplication
Schizophrenia
GLikely pathogenic
IFNA1, IFNA10
+23 more
Copy number gain
See cases
GLikely benign
IFNA1, IFNE
+5 more
Copy number loss
See cases
GUncertain significance
CDKN2A, CDKN2B
+10 more
Duplication
not provided
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
CREB3, STOML2
+188 more
Copy number gain
not provided
GPathogenic
CDKN2A, CDKN2B
+22 more
Copy number gain
not provided
GUncertain significance
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
ACER2, ACO1
+169 more
Copy number gain
MISSED ABORTION
GPathogenic
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ACER2, ACO1
+204 more
Copy number gain
Bradycardia
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Tetrasomy 9p
GPathogenic
ACER2, ACO1
+114 more
Copy number gain
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
SPATA31A5, SPATA31A6
+257 more
Copy number gain
not specified
GPathogenic
ACER2, ACO1
+205 more
Copy number gain
not specified
GPathogenic
CDKN2A, CDKN2B
+7 more
Copy number gain
not provided
GUncertain significance
CDKN2A, CDKN2B
+22 more
Copy number gain
not provided
GUncertain significance
ACER2, ACO1
+213 more
Copy number gain
not provided
GPathogenic
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
CER1, CHMP5
+193 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
CNTNAP3B, CREB3
+204 more
Copy number gain
not provided
GPathogenic
GBA2, MPDZ
+195 more
Copy number gain
not provided
GPathogenic
CDKN2A, CDKN2B
+22 more
Copy number loss
not provided
GPathogenic
ACER2, ACO1
+225 more
Copy number gain
not provided
GPathogenic
ACER2, ACO1
+213 more
Copy number gain
not provided
GPathogenic
CNTNAP3, CNTNAP3B
+204 more
Copy number gain
not provided
GPathogenic
ATOSB, B4GALT1
+204 more
Copy number gain
not provided
GPathogenic
DMAC1, DMRT1
+194 more
Copy number gain
not provided
GPathogenic
DMAC1, TYRP1
+89 more
Copy number gain
not provided
GPathogenic
ACER2, ACO1
+201 more
Copy number gain
Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus
GLikely pathogenic
RPS6, TYRP1
+51 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+194 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+274 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+46 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+69 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+99 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
CIMIP2B, CLTA
+197 more
Copy number gain
See cases
GPathogenic
CDKN2A, CDKN2B
+23 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+215 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+195 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+195 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+202 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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