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Items: 1 to 100 of 288

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+270 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+217 more
Copy number loss
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
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+223 more
Copy number loss
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
LOC130001549, LOC130001550
+233 more
Deletion
Chromosome 9p deletion syndrome
GPathogenic
AK3, BRD10
+271 more
Copy number loss
See cases
GPathogenic
DMAC1, ERMP1
+228 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+247 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+183 more
Copy number loss
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
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+215 more
Copy number loss
See cases
GPathogenic
LOC130001510, LOC130001511
+256 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+224 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+303 more
Copy number loss
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, BNC2
+290 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+232 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+215 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
ERMP1, GLDC
+230 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+297 more
Copy number loss
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
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
AK3, BRD10
+255 more
Copy number loss
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
LOC126860572, LOC126860573
+217 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
LOC130001436, LOC130001437
+179 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+252 more
Copy number loss
See cases
GPathogenic
LOC126860553, LOC126860554
+280 more
Copy number loss
See cases
GPathogenic
LOC130001440, LOC130001441
+213 more
Copy number loss
See cases
GPathogenic
LOC130001466, LOC130001467
+295 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+222 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
LOC130001493, LOC130001494
+210 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+292 more
Copy number loss
See cases
GPathogenic
LOC130001453, LOC130001454
+172 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+461 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+273 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+412 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+204 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+153 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+144 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+355 more
Copy number gain
See cases
GPathogenic
BRD10, MLANA
(T23M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10, MLANA
(T23K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10, MLANA
(Y47H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10, MLANA
(F79L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BRD10, MLANA
(H81L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10, MLANA
(N99S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(S2093L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(P2088S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(F2087C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(P2083R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(R2081Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(V2076A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(L2072F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(P2070A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(N2059S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(V2043I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(L2039W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(P2028L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(S2026G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(L2019F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(S2018C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(V1992A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(A1990T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(Q1984E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(P1977S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(S1962N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(P1955A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(N1948S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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