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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM3A
(I137V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
FAM3A
(R121Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FAM3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FAM3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALG13, AMMECR1
+488 more
Copy number gain
not provided
GPathogenic
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