C5562040[trait identifier] AND "Mendelics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686264	NM_003285.3(TNR):c.3916A>C (p.Thr1306Pro)	TNR (T1306P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GPathogenic
Select item 1686265	NM_003285.3(TNR):c.2818del (p.Glu940fs)	TNR (E607fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GPathogenic