ClinVar for MedGen (Select 765257) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801987	NM_001126128.2(PROK2):c.-4C>A	PROK2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 420068	NM_001126128.2(PROK2):c.297dup (p.Gly100fs)	PROK2 (G100fs +1 more)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 378430	NM_001126128.2(PROK2):c.84C>G (p.Ala28=)	PROK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 156561	NM_001126128.2(PROK2):c.101G>A (p.Cys34Tyr)	PROK2 (C34Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 4 with or without anosmia	GPathogenic
Select item 156560	NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro)	PROK2 (A24P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 4 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 3604	NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys)	PROK2 (R73C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3603	NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)	PROK2	Deletion (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +3 more	GPathogenic
Select item 3601	NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg)	PROK2 (G32R)	Single nucleotide variant (missense variant)	PROK2-related disorder +1 more	GConflicting classifications of pathogenicity