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Items: 1 to 100 of 167

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+270 more
Copy number loss
See cases
GPathogenic
LOC130001516, LOC130001517
+217 more
Copy number loss
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
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, CDC37L1
+125 more
Copy number loss
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+223 more
Copy number loss
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
LOC130001502, LOC130001503
+233 more
Deletion
Chromosome 9p deletion syndrome
GPathogenic
AK3, BRD10
+271 more
Copy number loss
See cases
GPathogenic
LOC130001462, LOC130001463
+119 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+228 more
Copy number loss
See cases
GPathogenic
LOC130001526, LOC130001527
+247 more
Copy number loss
See cases
GPathogenic
LOC130001462, LOC130001463
+183 more
Copy number loss
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
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
AK3, CD274
+155 more
Copy number loss
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+215 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+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, CD274
+155 more
Copy number loss
See cases
GPathogenic
AK3, CDC37L1
+131 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
SNORD137, SPATA6L
+303 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
SMARCA2, SNAPC3
+290 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+232 more
Copy number loss
See cases
GPathogenic
LOC130001441, LOC130001442
+215 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
LOC130001522, LOC130001523
+297 more
Copy number loss
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
RCL1, RFX3
+230 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+539 more
Copy number gain
See cases
GPathogenic
LOC130001520, LOC130001521
+410 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+255 more
Copy number loss
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+217 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+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
LOC130001455, LOC130001456
+280 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+213 more
Copy number loss
See cases
GPathogenic
LOC105375972, LOC105375976
+295 more
Copy number loss
See cases
GPathogenic
LOC121331319, LOC121740737
+222 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
LOC124210609, LOC124210610
+210 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+292 more
Copy number loss
See cases
GPathogenic
AK3, CDC37L1
+120 more
Copy number loss
See cases
GPathogenic
LOC130001490, LOC130001491
+172 more
Copy number loss
See cases
GPathogenic
SLC1A1, SLC24A2
+461 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+273 more
Copy number loss
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+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
LOC126860594, LOC126860595
+355 more
Copy number gain
See cases
GPathogenic
INSL4, INSL6
+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
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ADAMTSL1, AK3
+57 more
Copy number loss
not specified
GPathogenic
CREB3, STOML2
+188 more
Copy number gain
not provided
GPathogenic
AK3, BNC2
+49 more
Deletion
not provided
GPathogenic
AK3, CDC37L1
+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
RIC1, RLN1
+29 more
Copy number gain
not provided
GLikely pathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+44 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
AK3, BRD10
+37 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+169 more
Copy number gain
MISSED ABORTION
GPathogenic
AK3, BRD10
+36 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
IL33, RCL1
+37 more
Copy number loss
Chromosome 9p deletion syndrome
GPathogenic
AK3, BRD10
+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

Items: 1 to 100 of 167

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