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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 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
ADAM17, ADI1
+546 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
APOB, APOB-ICR
+131 more
Copy number loss
See cases
GPathogenic
LOC129933212, RHOB
Single nucleotide variant
not provided
GBenign
RHOB
(S73F)
Single nucleotide variant
(missense variant)
RHOB-related disorder
+2 more
GConflicting classifications of pathogenicity
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
APOB, ASAP2
+59 more
Copy number gain
not specified
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
RHOB
Copy number loss
not provided
GUncertain significance
APOB, CYRIA
+25 more
Copy number loss
not provided
GPathogenic
APOB, ATAD2B
+22 more
Copy number loss
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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