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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
DHPS, LOC112543448
(M1I)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
LOC112543448, DHPS
(A13V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC112543448, DHPS
(M1V)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
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