ClinVar for MedGen (Select 766755) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062119	NM_032551.5(KISS1R):c.233A>G (p.Asn78Ser)	KISS1R, LOC130062853 (N78S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 8 with or without anosmia	GUncertain significance
Select item 2637681	NC_000019.9:g.(?_917332)_(921006_?)del	KISS1R	Deletion	Hypogonadotropic hypogonadism 8 with or without anosmia	GPathogenic
Select item 1590131	NM_032551.5(KISS1R):c.18G>A (p.Thr6=)	KISS1R	Single nucleotide variant (synonymous variant)	Central precocious puberty 1 +2 more	GBenign/Likely benign
Select item 1339093	NM_032551.5(KISS1R):c.82A>C (p.Asn28His)	KISS1R (N28H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 8 with or without anosmia	GUncertain significance
Select item 1028963	NM_032551.5(KISS1R):c.749T>A (p.Leu250Gln)	KISS1R (L250Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 8 with or without anosmia	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 specified +3 more	GBenign/Likely benign
Select item 286524	NM_032551.5(KISS1R):c.24A>G (p.Gly8=)	KISS1R	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 8 with or without anosmia +2 more	GBenign
Select item 50861	NM_032551.5(KISS1R):c.581C>A (p.Ala194Asp)	KISS1R (A194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5759	NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)	KISS1R (L102P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic