Related gene-specific medical variations for Gene (Select 23676) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246762	NC_000023.10:g.(?_21755681)_(21761974_?)dup	SMPX	Duplication	not provided	GUncertain significance
Select item 3246751	NC_000023.10:g.(?_21772344)_(21772408_?)del	SMPX	Deletion	not provided	GPathogenic
Select item 987023	NM_014332.3(SMPX):c.127G>T (p.Glu43Ter)	SMPX (E43*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 445653	NM_014332.3(SMPX):c.99dup (p.Arg34fs)	SMPX (R34fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic

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