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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
ANKRD11
(K635fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+11 more
GPathogenic/Likely pathogenic
MT-ND1
Single nucleotide variant
Abnormal CSF lactate concentration
+6 more
GUncertain significance
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