Related gene-specific medical variations for Gene (Select 128674) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382446	NM_144773.4(PROKR2):c.383G>T (p.Cys128Phe)	PROKR2 (C128F)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 2435259	NM_144773.4(PROKR2):c.937A>G (p.Thr313Ala)	PROKR2 (T313A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 2432848	NM_144773.4(PROKR2):c.201C>A (p.Cys67Ter)	PROKR2 (C67*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely pathogenic
Select item 1526678	GRCh37/hg19 20p12.3(chr20:5253236-5403114)	PROKR2	Copy number loss	not specified	GUncertain significance
Select item 1184527	NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln)	PROKR2 (R164Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GPathogenic
Select item 1184526	NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser)	PROKR2 (T340S)	Single nucleotide variant (missense variant)	Amenorrhea +1 more	GConflicting classifications of pathogenicity
Select item 635914	Single allele	PROKR2	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 633661	NM_144773.4(PROKR2):c.332T>G (p.Met111Arg)	PROKR2 (M111R)	Single nucleotide variant (missense variant)	Amenorrhea +2 more	GConflicting classifications of pathogenicity

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