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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
LOC130004132, LOC130004133
+150 more
Copy number loss
See cases
GPathogenic
DNAJC9, FAM149B1
(P398S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM149B1, DNAJC9
(L466fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
DNAJC9, FAM149B1
(T537I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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