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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
LOC130000897, LOC130000898
+1960 more
Copy number gain
See cases
GPathogenic
LOC130000722, LOC130000723
+470 more
Copy number gain
See cases
GPathogenic
PARP10, PCAT1
+1690 more
Copy number gain
See cases
GPathogenic
LOC130000867, LOC130000868
+1686 more
Copy number gain
See cases
GPathogenic
LOC130000705, LOC130000706
+327 more
Copy number loss
See cases
GPathogenic
LOC130001282, LOC130001283
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1152 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1531 more
Copy number gain
See cases
GPathogenic
C8orf88, CDH17
+72 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+109 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+139 more
Copy number loss
See cases
GPathogenic
CCNE2, CDH17
+98 more
Copy number loss
See cases
GPathogenic
LINC02906, LOC126860441
(E74G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ATP6V0D2, CALB1
+26 more
Copy number loss
not provided
GUncertain significance
ATP6V0D2, CA1
+53 more
Copy number loss
not provided
GPathogenic
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
LINC02906, LRRC69
+36 more
Copy number loss
not provided
GPathogenic
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
MICU3, MIR1234
+665 more
Copy number gain
not provided
GPathogenic
VPS13B, VPS28
+474 more
Copy number gain
not provided
GPathogenic
DCAF13, CNGB3
+105 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
PPP1R16A, PPP1R42
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
NSD3, NSMAF
+665 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+160 more
Copy number gain
See cases
GPathogenic
CCNE2, CDH17
+17 more
Copy number loss
See cases
GLikely pathogenic
C8orf76, CALB1
+189 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
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