scrophularia pubertal - ClinVar - NCBI

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The following term was not found in ClinVar: scrophularia.
Showing results for Scrophularia puberula. Your search for Scrophularia puberula retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12189	NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)	HSD3B2	Single nucleotide variant (stop lost)	3 beta-Hydroxysteroid dehydrogenase deficiency	GPathogenic
Select item 403018	NM_002256.4(KISS1):c.417del (p.Ter139TrpextTer?)	KISS1	Deletion (frameshift variant +1 more)	not specified +2 more	GBenign
Select item 30349	NM_002256.4(KISS1):c.339C>G (p.Asn113Lys)	KISS1 (N113K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 13 with or without anosmia	GPathogenic
Select item 501504	NM_002256.4(KISS1):c.268C>G (p.His90Asp)	KISS1 (H90D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1174871	NM_002256.4(KISS1):c.242C>G (p.Pro81Arg)	KISS1 (P81R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 13 with or without anosmia +1 more	GBenign
Select item 156473	NM_002256.4(KISS1):c.220C>T (p.Pro74Ser)	KISS1 (P74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14400	NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys)	LHCGR, STON1-GTF2A1L (I625K)	Single nucleotide variant (missense variant +1 more)	Leydig cell hypoplasia, type II	GPathogenic
Select item 14384	NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)	STON1-GTF2A1L, LHCGR (D578G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 14403	NM_000233.4(LHCGR):c.1732G>C (p.Asp578His)	LHCGR, STON1-GTF2A1L (D578H)	Single nucleotide variant (missense variant +1 more)	Leydig cell adenoma, somatic, with male-limited precocious puberty	GPathogenic
Select item 14404	NM_000233.4(LHCGR):c.866+1515_948-2168del	LHCGR, STON1-GTF2A1L	Deletion (intron variant +2 more)	Leydig cell hypoplasia, type II	GPathogenic
Select item 2572171	NC_000002.12:g.128262169_128275055dup	HS6ST1, LOC121725102	Duplication	Hypogonadotropic hypogonadism 15 with or without anosmia	GUncertain significance
Select item 180161	NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)	HS6ST1 (R382W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 801750	NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His)	HS6ST1 (R371H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign/Likely benign
Select item 930865	NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn)	HS6ST1 (Y319N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 15 with or without anosmia	GUncertain significance
Select item 770340	NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser)	HS6ST1 (R249S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 801751	NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu)	HS6ST1 (D87E)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign/Likely benign
Select item 31580	NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter)	DCAF17 (W129*)	Single nucleotide variant (nonsense +1 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 773847	NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile)	CCDC141 (V1457I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 638188	NM_173648.4(CCDC141):c.2299G>A (p.Asp767Asn)	CCDC141 (D767N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 788513	NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys)	CCDC141 (Y556C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign/Likely benign
Select item 774291	NM_173648.4(CCDC141):c.1521A>C (p.Gln507His)	CCDC141 (Q507H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1027867	NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe)	CCDC141 (L63F)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 3242533	NM_017563.5(IL17RD):c.1992C>G (p.Ile664Met)	IL17RD, LOC126806689 (I520M +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 18 with or without anosmia	GLikely benign
Select item 1224839	NM_017563.5(IL17RD):c.1531T>C (p.Leu511=)	IL17RD, LOC126806689	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 18 with or without anosmia +1 more	GBenign
Select item 1029472	NM_017563.5(IL17RD):c.1373C>G (p.Ala458Gly)	IL17RD, LOC126806689 (A458G +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 18 with or without anosmia +2 more	GUncertain significance
Select item 1292703	NM_017563.5(IL17RD):c.868+29T>C	IL17RD	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 18 with or without anosmia +1 more	GBenign
Select item 1183074	NM_017563.5(IL17RD):c.764C>T (p.Thr255Met)	IL17RD (T111M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1243386	NM_017563.5(IL17RD):c.660T>C (p.His220=)	IL17RD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 420068	NM_001126128.2(PROK2):c.297dup (p.Gly100fs)	PROK2 (G100fs +1 more)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3604	NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys)	PROK2 (R73C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3603	NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)	PROK2	Deletion (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +3 more	GPathogenic
Select item 156561	NM_001126128.2(PROK2):c.101G>A (p.Cys34Tyr)	PROK2 (C34Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 4 with or without anosmia	GPathogenic
Select item 3601	NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg)	PROK2 (G32R)	Single nucleotide variant (missense variant)	PROK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 378430	NM_001126128.2(PROK2):c.84C>G (p.Ala28=)	PROK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 156560	NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro)	PROK2 (A24P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 4 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 801987	NM_001126128.2(PROK2):c.-4C>A	PROK2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 349417	NM_000406.3(GNRHR):c.*3076T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 905842	NM_000406.3(GNRHR):c.*3011T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349418	NM_000406.3(GNRHR):c.*2919A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349419	NM_000406.3(GNRHR):c.*2802T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906354	NM_000406.3(GNRHR):c.*2772A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906355	NM_000406.3(GNRHR):c.*2767T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 906356	NM_000406.3(GNRHR):c.*2748C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349420	NM_000406.3(GNRHR):c.*2663G>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 906357	NM_000406.3(GNRHR):c.*2588C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349421	NM_000406.3(GNRHR):c.*2496G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 906358	NM_000406.3(GNRHR):c.*2441T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 349422	NM_000406.3(GNRHR):c.*2328A>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907361	NM_000406.3(GNRHR):c.*2248T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907362	NM_000406.3(GNRHR):c.*2244T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907363	NM_000406.3(GNRHR):c.*2196G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349423	NM_000406.3(GNRHR):c.*2166G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 349424	NM_000406.3(GNRHR):c.*2165A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349425	NM_000406.3(GNRHR):c.*2055G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 349428	NM_000406.3(GNRHR):c.*1984T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349429	NM_000406.3(GNRHR):c.*1948C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349430	NM_000406.3(GNRHR):c.*1892C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349431	NM_000406.3(GNRHR):c.*1891T>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 904025	NM_000406.3(GNRHR):c.*1797A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349432	NM_000406.3(GNRHR):c.*1654C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904026	NM_000406.3(GNRHR):c.*1532C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349434	NM_000406.3(GNRHR):c.*1347A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904027	NM_000406.3(GNRHR):c.*1302G>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904805	NM_000406.3(GNRHR):c.*1301A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904806	NM_000406.3(GNRHR):c.*1275G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349436	NM_000406.3(GNRHR):c.*1260G>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign
Select item 349437	NM_000406.3(GNRHR):c.*1248A>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349438	NM_000406.3(GNRHR):c.*1193C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349440	NM_000406.3(GNRHR):c.*1144A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904807	NM_000406.3(GNRHR):c.*928C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904808	NM_000406.3(GNRHR):c.*912C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349441	NM_000406.3(GNRHR):c.*832T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349442	NM_000406.3(GNRHR):c.*829T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 349443	NM_000406.3(GNRHR):c.*819A>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349444	NM_000406.3(GNRHR):c.*809C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 349445	NM_000406.3(GNRHR):c.*806G>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349446	NM_000406.3(GNRHR):c.*802G>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign
Select item 349447	NM_000406.3(GNRHR):c.*730T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906416	NM_000406.3(GNRHR):c.*696A>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907417	NM_000406.3(GNRHR):c.*668G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907418	NM_000406.3(GNRHR):c.*662T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907419	NM_000406.3(GNRHR):c.*622T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349448	NM_000406.3(GNRHR):c.*583A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 349450	NM_000406.3(GNRHR):c.*495T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 907420	NM_000406.3(GNRHR):c.*474T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907421	NM_000406.3(GNRHR):c.*466T>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907422	NM_000406.3(GNRHR):c.*385A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 349451	NM_000406.3(GNRHR):c.*349A>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904090	NM_000406.3(GNRHR):c.*193A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 16036	NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu)	GNRHR (P320L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 16029	NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter)	GNRHR (L314*)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 16025	NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)	GNRHR (Y284C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely pathogenic
Select item 2755816	NM_000406.3(GNRHR):c.847T>C (p.Tyr283His)	GNRHR (Y283H +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic
Select item 1709893	NM_000406.3(GNRHR):c.845C>T (p.Pro282Leu)	GNRHR (P282L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely pathogenic
Select item 126540	NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)	GNRHR (T281I)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 140611	NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)	GNRHR (T269M)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 1519153	NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)	GNRHR (L266R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16024	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR (R262Q)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GPathogenic/Likely pathogenic
Select item 349452	NM_000406.3(GNRHR):c.773T>C (p.Ile258Thr)	GNRHR (I258T)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349453	NM_000406.3(GNRHR):c.743-9A>G	GNRHR	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance

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