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Items: 1 to 100 of 103

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
FOCAD, HACD4
+20 more
Copy number loss
See cases
GUncertain significance
IFNA1, IFNA10
+23 more
Copy number gain
See cases
GLikely benign
IFNA21
(R187M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(Q182P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(S174Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(V166A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(E165K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(K157T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(T155K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(Q148H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(V137E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IFNA21
(P133S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(T132S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(E126*)
Single nucleotide variant
(nonsense)
Multisystem inflammatory syndrome in children
Grisk factor
IFNA21
(F108S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(A74T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(F66S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(H57D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(R56S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(P49H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFNA21
(L22M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
FOCAD, HACD4
+10 more
Copy number gain
not provided
GUncertain significance
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
IFNA21, IFNA7
+7 more
Copy number loss
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
FOCAD, HACD4
+10 more
Copy number loss
not provided
GUncertain significance
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
FOCAD, HACD4
+10 more
Copy number loss
See cases
GUncertain significance
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
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