ClinVar for MedGen (Select 766756) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235192	NM_001130969.3(NSMF):c.919G>C (p.Asp307His)	NSMF (D282H +3 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 2434447	NM_001130969.3(NSMF):c.194C>A (p.Pro65His)	NSMF (P65H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 1599715	NM_001130969.3(NSMF):c.1132-22_1132-15del	NSMF	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 976066	NM_001130969.3(NSMF):c.1435A>G (p.Arg479Gly)	LOC126860797, NSMF (R449G +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 931977	NM_001130969.3(NSMF):c.586C>T (p.Arg196Cys)	NSMF (R196C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 638190	NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe)	LOC126860797, NSMF (L421F +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 2525	NM_001130969.3(NSMF):c.1132-23_1132-15del	NSMF	Deletion (intron variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	Grisk factor
Select item 2524	NM_001130969.3(NSMF):c.1438A>G (p.Thr480Ala)	LOC126860797, NSMF (T480A +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	Grisk factor