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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NANOG
(Q39K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
A2ML1, ACSM4
+35 more
Deletion
Peroxisome biogenesis disorder 2B
+1 more
GPathogenic
A2ML1, ACRBP
+85 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
ACRBP, ACSM4
+64 more
Duplication
not provided
GUncertain significance
PEX5, PHB2
+57 more
Duplication
Temtamy syndrome
GUncertain significance
C12orf57, ATN1
+40 more
Duplication
Peroxisome biogenesis disorder 2B
GUncertain significance
C1RL, C1S
+44 more
Duplication
Klippel-Feil syndrome 3, autosomal dominant
GUncertain significance
C3AR1, CLEC4C
+8 more
Duplication
Developmental and epileptic encephalopathy, 21
GUncertain significance
ACSM4, APOBEC1
+34 more
Duplication
Temtamy syndrome
GUncertain significance
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