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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
ALK, CAPN13
+31 more
Copy number gain
See cases
GUncertain significance
YPEL5
(T22M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YPEL5
(N26S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YPEL5
(R59G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YPEL5
(N77S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YPEL5
(T88I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ALK, ARHGEF33
+52 more
Copy number loss
not specified
GPathogenic
OTOF, OXER1
+131 more
Copy number gain
See cases
GPathogenic
DNAJC27, DNAJC5G
+131 more
Copy number gain
not provided
GLikely pathogenic
ALK, BIRC6
+21 more
Copy number loss
not provided
GPathogenic
SPAST, ALK
+14 more
Copy number loss
not provided
GPathogenic
RASGRP3, HNRNPLL
+52 more
Inversion
Endometrial carcinoma
GLikely pathogenic
ALK, ARHGEF33
+52 more
Inversion
Small cell lung carcinoma
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+139 more
Copy number gain
See cases
GPathogenic
ALK, ARHGEF33
+70 more
Copy number gain
See cases
GPathogenic
CAPN13, GALNT14
+5 more
Copy number gain
See cases
GUncertain significance
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