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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
ARHGEF33, ATL2
+154 more
Copy number loss
See cases
GPathogenic
ARHGEF33, ATL2
+36 more
Copy number gain
See cases
GUncertain significance
MORN2
(A85T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MORN2
(F104S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MORN2
(Y110C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF33, ATL2
+52 more
Copy number loss
not specified
GPathogenic
ARHGEF33, ATL2
+17 more
Duplication
RASopathy
GPathogenic
CAMKMT, CDKL4
+52 more
Duplication
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
ARHGEF33, DHX57
+3 more
Copy number loss
not provided
GUncertain significance
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
GALM, SRSF7
+12 more
Copy number gain
not provided
GUncertain significance
SLC8A1, SOS1
+11 more
Duplication
Neurodevelopmental disorder
GLikely pathogenic
ARHGEF33, ATL2
+9 more
Duplication
RASopathy
GUncertain significance
ABCG5, ABCG8
+100 more
Copy number gain
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, KCNG3
+52 more
Inversion
Hereditary nonpolyposis colorectal neoplasms
GPathogenic
ABCG5, ABCG8
+139 more
Copy number gain
See cases
GPathogenic
ALK, ARHGEF33
+70 more
Copy number gain
See cases
GPathogenic
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