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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM149A
(W144R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAM149A
(R145H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAM149A
(K201E +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AADAT, ACSL1
+68 more
Copy number loss
not provided
GPathogenic
TMA16, CXCL1
+537 more
Copy number gain
not provided
GPathogenic
ACSL1, ANKRD37
+37 more
Copy number loss
not provided
GLikely pathogenic
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