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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123956263, LOC123956264
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ADCYAP1R1, AQP1
+85 more
Copy number gain
See cases
GPathogenic
ADCYAP1R1, AVL9
+54 more
Copy number loss
See cases
GLikely pathogenic
AMPH, ANLN
+229 more
Copy number loss
See cases
GPathogenic
FKBP9, LOC129998218
(P10Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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