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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTSS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COG4, AARS1
+27 more
Deletion
not provided
GPathogenic
DDX19B, FCSK
+8 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1, AP1G1
+51 more
Deletion
Immunodeficiency
GUncertain significance
COG4, FCSK
+4 more
Duplication
not provided
GUncertain significance
CYB5B, DDX19A
+127 more
Deletion
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
AARS1, AP1G1
+37 more
Duplication
Immunodeficiency
GUncertain significance
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