ClinVar for MedGen (Select 763392) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068331	NM_144773.4(PROKR2):c.437T>C (p.Leu146Ser)	PROKR2 (L146S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 2637789	NC_000020.10:g.(?_5279863)_(5283383_5294557)del	PROKR2	Deletion	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely pathogenic
Select item 2579639	NM_144773.4(PROKR2):c.948C>G (p.Tyr316Ter)	PROKR2 (Y316*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely pathogenic
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 1597839	NM_144773.4(PROKR2):c.156C>T (p.Ala52=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1324963	NM_144773.4(PROKR2):c.691G>A (p.Glu231Lys)	PROKR2 (E231K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 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 1299255	NM_144773.4(PROKR2):c.818C>A (p.Thr273Lys)	PROKR2 (T273K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	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 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 898722	NM_144773.4(PROKR2):c.273C>T (p.Leu91=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 898721	NM_144773.4(PROKR2):c.328G>A (p.Glu110Lys)	PROKR2 (E110K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GUncertain significance
Select item 898720	NM_144773.4(PROKR2):c.506C>T (p.Thr169Met)	PROKR2 (T169M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely benign
Select item 897564	NM_144773.4(PROKR2):c.538G>A (p.Val180Met)	PROKR2 (V180M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely benign
Select item 897563	NM_144773.4(PROKR2):c.725G>A (p.Cys242Tyr)	PROKR2 (C242Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897562	NM_144773.4(PROKR2):c.797G>T (p.Arg266Leu)	PROKR2 (R266L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 897087	NM_144773.4(PROKR2):c.809G>A (p.Arg270His)	PROKR2 (R270H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 895748	NM_144773.4(PROKR2):c.169G>T (p.Gly57Cys)	PROKR2 (G57C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely benign
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 895746	NM_144773.4(PROKR2):c.261C>T (p.Leu87=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely benign
Select item 895678	NM_144773.4(PROKR2):c.1052A>C (p.His351Pro)	PROKR2 (H351P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
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 895676	NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg)	PROKR2 (G371R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 818211	NM_144773.4(PROKR2):c.728A>G (p.Tyr243Cys)	PROKR2 (Y243C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 818210	NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)	PROKR2 (R135C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 816917	NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg)	PROKR2 (G229R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely pathogenic
Select item 803597	NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)	PROKR2 (V297I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GConflicting classifications of pathogenicity
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 715326	NM_144773.4(PROKR2):c.1050G>A (p.Leu350=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 695243	NM_144773.4(PROKR2):c.375C>T (p.His125=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 638189	NM_144773.4(PROKR2):c.889G>T (p.Val297Phe)	PROKR2 (V297F)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	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
Select item 338865	NM_144773.4(PROKR2):c.151G>A (p.Ala51Thr)	PROKR2 (A51T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 338864	NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly)	PROKR2 (R85G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338863	NM_144773.4(PROKR2):c.254G>T (p.Arg85Leu)	PROKR2 (R85L)	Single nucleotide variant (missense variant)	Seizure +2 more	GConflicting classifications of pathogenicity
Select item 338862	NM_144773.4(PROKR2):c.337T>C (p.Tyr113His)	PROKR2 (Y113H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 338860	NM_144773.4(PROKR2):c.390C>T (p.Ser130=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +3 more	GLikely benign
Select item 338859	NM_144773.4(PROKR2):c.465C>T (p.Leu155=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338858	NM_144773.4(PROKR2):c.585G>C (p.Thr195=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338857	NM_144773.4(PROKR2):c.819G>A (p.Thr273=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 338856	NM_144773.4(PROKR2):c.930C>G (p.His310Gln)	PROKR2 (H310Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 338855	NM_144773.4(PROKR2):c.955G>A (p.Glu319Lys)	PROKR2 (E319K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 338854	NM_144773.4(PROKR2):c.991G>A (p.Val331Met)	PROKR2 (V331M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 338853	NM_144773.4(PROKR2):c.1005G>A (p.Thr335=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 338852	NM_144773.4(PROKR2):c.1110C>T (p.Asn370=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 282345	NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys)	PROKR2 (R268C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 267202	NM_144773.4(PROKR2):c.97T>C (p.Tyr33His)	PROKR2 (Y33H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely pathogenic
Select item 180158	NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	PROKR2 (S188L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 156565	NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln)	PROKR2 (R248Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 156564	NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser)	PROKR2 (W178S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 156563	NM_144773.4(PROKR2):c.343G>A (p.Val115Met)	PROKR2 (V115M)	Single nucleotide variant (missense variant)	PROKR2-related condition	GUncertain significance
Select item 156562	NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)	PROKR2 (R85C)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +3 more	GConflicting classifications of pathogenicity
Select item 138812	NM_144773.4(PROKR2):c.525C>G (p.Ala175=)	PROKR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 3453	NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)	PROKR2 (M323I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GPathogenic
Select item 3452	NM_144773.4(PROKR2):c.58del (p.His20fs)	PROKR2 (H20fs)	Deletion (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3451	NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	PROKR2 (R85H)	Single nucleotide variant (missense variant)	PROKR2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 3450	NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg)	PROKR2 (Q210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3449	NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	PROKR2 (L173R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 67