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Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001517, LOC130001518
+484 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+458 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+582 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+539 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
SLC1A1, SLC24A2
+461 more
Copy number gain
See cases
GPathogenic
LOC126860594, LOC126860595
+355 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+243 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
C9orf72, CAAP1
+136 more
Copy number loss
See cases
GPathogenic
MOB3B
(R201L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB3B
(E84K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB3B
(L50S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB3B
(A46S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB3B
(R33Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB3B
(R33W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB3B
(F21S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MOB3B
(I3M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNK, MOB3B
(M7T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFNK, MOB3B
(N34K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFNK, MOB3B
(L45P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFNK, MOB3B
(F55L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFNK, MOB3B
(L60P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFNK, MOB3B
(A86P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFNK, MOB3B
(A94D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFNK, MOB3B
(I116T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
CREB3, STOML2
+188 more
Copy number gain
not provided
GPathogenic
C9orf72, EQTN
+3 more
Duplication
not provided
GUncertain significance
C9orf72, EQTN
+2 more
Copy number loss
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
C9orf72, LINGO2
+1 more
Copy number gain
not specified
GUncertain significance
C9orf72, CAAP1
+13 more
Copy number loss
not specified
GUncertain significance
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
C9orf72, EQTN
+5 more
Duplication
not provided
GUncertain significance
C9orf72, LINGO2
+1 more
Copy number gain
not provided
GUncertain significance
CAAP1, EQTN
+5 more
Copy number gain
not provided
GUncertain significance
CAAP1, EQTN
+5 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
APBA1, APTX
+185 more
Complex
Glioma
GLikely pathogenic
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
EQTN, MOB3B
+1 more
Copy number gain
not provided
GUncertain significance
ACER2, ACO1
+201 more
Copy number gain
Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus
GLikely pathogenic
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
C9orf72, MOB3B
Copy number gain
See cases
GLikely benign
CIMIP2B, CLTA
+197 more
Copy number gain
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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