"OMIM"[submitter] AND "UFC1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559448	NM_016406.4(UFC1):c.68G>A (p.Arg23Gln)	LOC126805894, UFC1 (R23Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity and poor growth	GPathogenic
Select item 559447	NM_016406.4(UFC1):c.317C>T (p.Thr106Ile)	UFC1 (T106I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity and poor growth	GLikely pathogenic