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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
LINC02765, LINC02768
+955 more
Copy number gain
See cases
GPathogenic
LOC440742, LYPD8
+955 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+953 more
Copy number gain
See cases
GPathogenic
LOC129932825, LOC129932826
+952 more
Copy number gain
See cases
GPathogenic
LOC129932658, LOC129932659
+950 more
Copy number gain
See cases
GPathogenic
LOC126806053, LOC126806054
+870 more
Copy number gain
See cases
GPathogenic
ABCB10, ACTA1
+656 more
Copy number gain
See cases
GPathogenic
ACTN2, AGT
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
LOC129388781, LOC129932784
+123 more
Duplication
not specified
GUncertain significance
ARID4B, B3GALNT2
+162 more
Deletion
Immunodeficiency, common variable, 14
GPathogenic
ARID4B, COA6
+98 more
Copy number loss
See cases
GUncertain significance
ARID4B, B3GALNT2
+75 more
Copy number gain
See cases
GUncertain significance
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