C3806730[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190220	NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	NEXMIF (R628*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 974858	NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs)	NEXMIF (F264fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic