"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PROKR2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338851	NM_144773.4(PROKR2):c.1122C>A (p.Thr374=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 895677	NM_144773.4(PROKR2):c.1111G>A (p.Gly371Arg)	PROKR2 (G371R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 715326	NM_144773.4(PROKR2):c.1050G>A (p.Leu350=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1050416	NM_144773.4(PROKR2):c.1042A>C (p.Met348Leu)	PROKR2 (M348L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 897086	NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)	PROKR2 (P290S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1306109	NM_144773.4(PROKR2):c.803G>A (p.Arg268His)	PROKR2 (R268H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GUncertain significance
Select item 100889	NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp)	PROKR2 (R248W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 750010	NM_144773.4(PROKR2):c.663G>A (p.Lys221=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 180158	NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	PROKR2 (S188L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1306542	NM_144773.4(PROKR2):c.537G>A (p.Met179Ile)	PROKR2 (M179I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 697957	NM_144773.4(PROKR2):c.525C>A (p.Ala175=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GLikely benign
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 338860	NM_144773.4(PROKR2):c.390C>T (p.Ser130=)	PROKR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 338861	NM_144773.4(PROKR2):c.376G>A (p.Val126Met)	PROKR2 (V126M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 1386024	NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp)	PROKR2 (R117W)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +2 more	GUncertain significance
Select item 3451	NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	PROKR2 (R85H)	Single nucleotide variant (missense variant)	PROKR2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 895747	NM_144773.4(PROKR2):c.208G>A (p.Gly70Ser)	PROKR2 (G70S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 1597839	NM_144773.4(PROKR2):c.156C>T (p.Ala52=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign