C4748234[trait identifier] AND "Foundation for Research in Genetics an - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499679	NM_031293.3(PMFBP1):c.1888G>T (p.Glu630Ter)	PMFBP1 (E485* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GLikely pathogenic
Select item 560417	NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter)	PMFBP1 (Q488* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GPathogenic
Select item 2580173	NM_031293.3(PMFBP1):c.841C>T (p.Gln281Ter)	PMFBP1 (Q136* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GPathogenic

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