ClinVar (all) for Orgtrack (Select 508332) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029874	NM_000492.4(CFTR):c.389T>C (p.Leu130Pro)	CFTR (L130P)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more	GUncertain significance
Select item 36341	NM_000518.5(HBB):c.93-3T>G	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic