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Items: 1 to 100 of 167

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
LOC126860768, LOC126860769
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001533, LOC130001534
+1213 more
Copy number gain
See cases
GPathogenic
LOC124310660, LOC124310661
+3784 more
Copy number gain
See cases
GPathogenic
LOC111413024, LOC111413033
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+1061 more
Copy number gain
See cases
GPathogenic
STOML2, TAF1L
+1119 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC116216098, LOC116216099
+3785 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, CDC37L1
+125 more
Copy number loss
See cases
GPathogenic
HRCT1, IFNA1
+882 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+223 more
Copy number loss
See cases
GPathogenic
DAPK1-IT1, DCAF10
+1366 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
INSL4, INSL6
+484 more
Copy number gain
See cases
GPathogenic
LCN15, LCN2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001549, LOC130001550
+233 more
Deletion
Chromosome 9p deletion syndrome
GPathogenic
DMRT2, DMRT3
+271 more
Copy number loss
See cases
GPathogenic
AK3, CDC37L1
+119 more
Copy number gain
See cases
GPathogenic
LOC121740738, LOC121740739
+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
LOC130001589, LOC130001590
+458 more
Copy number gain
See cases
GPathogenic
LOC130001787, LOC130001788
+983 more
Copy number gain
See cases
GPathogenic
LOC130001685, LOC130001686
+898 more
Copy number gain
See cases
GPathogenic
DMRT2, DMRT3
+581 more
Copy number gain
See cases
GPathogenic
LOC130001480, LOC130001481
+230 more
Copy number loss
See cases
GPathogenic
AK3, CD274
+155 more
Copy number loss
See cases
GPathogenic
FAM242F, FAM27C
+979 more
Copy number gain
See cases
GPathogenic
LOC130001509, LOC130001510
+215 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+256 more
Copy number loss
See cases
GPathogenic
LOC130001462, LOC130001463
+224 more
Copy number loss
See cases
GPathogenic
LOC130001518, LOC130001519
+233 more
Copy number gain
See cases
GPathogenic
AK3, CD274
+155 more
Copy number loss
See cases
GPathogenic
AK3, CDC37L1
+131 more
Copy number gain
See cases
GPathogenic
LOC130001443, LOC130001444
+233 more
Copy number loss
See cases
GPathogenic
LOC130001453, LOC130001454
+303 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+898 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
LOC113839543, LOC113839544
+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
LOC130001462, LOC130001463
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+297 more
Copy number loss
See cases
GPathogenic
LOC126860765, LOC126860766
+3785 more
Copy number gain
See cases
GPathogenic
LOC107882132, LOC108281132
+230 more
Copy number loss
See cases
GPathogenic
DMRT3, DOCK8
+230 more
Copy number loss
See cases
GPathogenic
LOC129929032, LOC130001435
+538 more
Copy number gain
See cases
GPathogenic
LOC130001450, LOC130001451
+410 more
Copy number gain
See cases
GPathogenic
LOC126860590, LOC126860591
+897 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+255 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+898 more
Copy number gain
See cases
GPathogenic
VLDLR-AS1, AK3
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+217 more
Copy number loss
See cases
GPathogenic
LOC126860555, LOC126860556
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+179 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+252 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+280 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+213 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+295 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+222 more
Copy number loss
See cases
GPathogenic
KANK1, KCNV2
+893 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+210 more
Copy number loss
See cases
GPathogenic
LOC130001488, LOC130001489
+292 more
Copy number loss
See cases
GPathogenic
AK3, CDC37L1
+120 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+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
LOC121740739, INSL4
+21 more
Copy number gain
See cases
GLikely benign
AK3, BRD10
+37 more
Copy number loss
not specified
GPathogenic
AK3, BRD10
+37 more
Copy number loss
not specified
GPathogenic
AK3, BRD10
+47 more
Copy number loss
not specified
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ADAMTSL1, AK3
+57 more
Copy number loss
not specified
GPathogenic
ACER2, ACO1
+188 more
Copy number gain
not provided
GPathogenic
AK3, BNC2
+49 more
Deletion
not provided
GPathogenic
RCL1, SLC1A1
+7 more
Deletion
not provided
GPathogenic
AK3, CD274
+11 more
Copy number gain
not provided
GUncertain significance
AK3, CDC37L1
+6 more
Copy number loss
not provided
GUncertain significance
AK3, CD274
+29 more
Copy number gain
not provided
GLikely pathogenic
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
DMRT3, DOCK8
+44 more
Copy number loss
See cases
GPathogenic
FOXD4, PLGRKT
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
KIAA2026, RLN2
+37 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+169 more
Copy number gain
MISSED ABORTION
GPathogenic
AK3, CD274
+36 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
AK3, CD274
+37 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
AK3, CD274
+37 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Bradycardia
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Tetrasomy 9p
GPathogenic
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