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Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+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
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
LOC126860601, LOC126860602
+581 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+538 more
Copy number gain
See cases
GPathogenic
LOC124210616, LOC124225047
+410 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+461 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+412 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+355 more
Copy number gain
See cases
GPathogenic
ERVFRD-3, FAM219A
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+243 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+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
IFNA2
(E182Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(Q181K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IFNA2
(M171I)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFNA2
(A162T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(L151F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(M134T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(V126M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(V126L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(C121G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(I86T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IFNA2
(M82V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(E81D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(F66S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA2
(H57R)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFNA2
(R46K)
Single nucleotide variant
(missense variant)
not provided
GBenign
IFNA2
(A6D)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ACER2, ACO1
+188 more
Copy number gain
not provided
GPathogenic
CDKN2A, CDKN2B
+22 more
Copy number gain
not provided
GUncertain significance
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
FOXD4, PLGRKT
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
ACER2, ACO1
+169 more
Copy number gain
MISSED ABORTION
GPathogenic
ABCA1, ABHD17B
+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
RIGI, RLN1
+114 more
Copy number gain
not specified
GPathogenic
OR1L4, PTRH1
+768 more
Copy number gain
not specified
GPathogenic
CDKN2B-AS1, ABHD17B
+257 more
Copy number gain
not specified
GPathogenic
ACO1, IFNA8
+205 more
Copy number gain
not specified
GPathogenic
CDKN2A, CDKN2B
+22 more
Copy number gain
not provided
GUncertain significance
JAK2, KANK1
+213 more
Copy number gain
not provided
GPathogenic
IFNA16, NTRK2
+326 more
Inversion
Recurrent spontaneous abortion
+1 more
GLikely pathogenic
ACER2, ACO1
+193 more
Copy number gain
not provided
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not provided
GPathogenic
IFNA1, IFNA10
+204 more
Copy number gain
not provided
GPathogenic
ACER2, ACO1
+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
ACER2, ACO1
+204 more
Copy number gain
not provided
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
not provided
GPathogenic
ANKRD18B, APTX
+194 more
Copy number gain
not provided
GPathogenic
ACER2, ADAMTSL1
+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
ABCA1, ABCA2
+769 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+194 more
Copy number gain
See cases
GPathogenic
TRMT10B, TRPM3
+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
UBQLN1, UCK1
+771 more
Copy number gain
See cases
GPathogenic
IFNA2, IFNA8
Copy number loss
See cases
GLikely benign
ACER2, ACO1
+197 more
Copy number gain
See cases
GPathogenic
CDKN2A, CDKN2B
+23 more
Copy number loss
See cases
GPathogenic
CHMP5, VLDLR
+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
ACO1, ADAMTSL1
+202 more
Copy number gain
See cases
GPathogenic
ANGPTL2, ANKRD18A
+771 more
Copy number gain
See cases
GPathogenic
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