ClinVar for MedGen (Select 812209) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1590131	NM_032551.5(KISS1R):c.18G>A (p.Thr6=)	KISS1R	Single nucleotide variant (synonymous variant)	KISS1R-related condition +3 more	GBenign/Likely benign
Select item 800826	NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser)	KISS1R (P147S)	Single nucleotide variant (missense variant)	Centra precocious puberty 1	GUncertain significance
Select item 447660	NM_032551.5(KISS1R):c.1091T>A (p.Leu364His)	KISS1R (L364H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 379860	NM_032551.5(KISS1R):c.1155G>A (p.Ala385=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 5760	NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro)	KISS1R (R386P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 5759	NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)	KISS1R (L102P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 8 with or without anosmia +2 more	GPathogenic/Likely pathogenic

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