Related gene-specific medical variations for Gene (Select 146845) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065385	NM_145054.5(CFAP52):c.547C>T (p.Arg183Ter)	CFAP52 (R115* +1 more)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 10, autosomal, with male infertility	GLikely pathogenic
Select item 1319991	NC_000017.10:g.9481617_9489649del	CFAP52	Deletion	Heterotaxy, visceral, 10, autosomal, with male infertility	GPathogenic
Select item 625821	GRCh37/hg19 17p13.1(chr17:9489128-9489263)	CFAP52	Copy number loss	not provided	GLikely pathogenic

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