C5561997[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679123	NM_001382241.1(TNPO2):c.2059C>T (p.Leu687Phe)	TNPO2 (L687F)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GUncertain significance
Select item 3024520	NM_001382241.1(TNPO2):c.890+1G>T	TNPO2	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	GLikely pathogenic