Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000406.2(GNRHR):c.959C>T (p.Pro320Leu) | 2798 | GNRHR | Pathogenic | 104893847 | RCV000030920; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68606226 | 68606226 | NM_000406.2:c.959C>T | NP_000397.1:p.Pro320Leu | NC_000004.11:g.68606226G>A | OMIM Allelic Variant:138850.0014 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.941T>A (p.Leu314Ter) | 2798 | GNRHR | Pathogenic | 104893841 | RCV000030913; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68606244 | 68606244 | NM_000406.2:c.941T>A | NP_000397.1:p.Leu314Ter | NC_000004.11:g.68606244A>T | OMIM Allelic Variant:138850.0007 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.851A>G (p.Tyr284Cys) | 2798 | GNRHR | Pathogenic | 28933074 | RCV000030909; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68606334 | 68606334 | NM_000406.2:c.851A>G | NP_000397.1:p.Tyr284Cys | NC_000004.11:g.68606334T>C | OMIM Allelic Variant:138850.0003 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.842C>T (p.Thr281Ile) | 2798 | GNRHR | Pathogenic | 515726220 | RCV000114424; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68606343 | 68606343 | NM_000406.2:c.842C>T | NP_000397.1:p.Thr281Ile | 4:g.68606343G>A | - | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.806C>T (p.Thr269Met) | 2798 | GNRHR | Likely pathogenic;Pathogenic | 369176613 | RCV000128827; RCV000203470; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68606379 | 68606379 | NM_000406.2:c.806C>T | NP_000397.1:p.Thr269Met | NC_000004.11:g.68606379G>A | - | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.806C>T (p.Thr269Met) | 2798 | GNRHR | Likely pathogenic;Pathogenic | 369176613 | RCV000128827; RCV000203470; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68606379 | 68606379 | NM_000406.2:c.806C>T | NP_000397.1:p.Thr269Met | NC_000004.11:g.68606379G>A | - | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.785G>A (p.Arg262Gln) | 2798 | GNRHR | Pathogenic | 104893837 | RCV000030908; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68606400 | 68606400 | NM_000406.2:c.785G>A | NP_000397.1:p.Arg262Gln | NC_000004.11:g.68606400C>T | OMIM Allelic Variant:138850.0002 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.651C>A (p.Ser217Arg) | 2798 | GNRHR | Pathogenic | 104893839 | RCV000030911; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68610377 | 68610377 | NM_000406.2:c.651C>A | NP_000397.1:p.Ser217Arg | NC_000004.11:g.68610377G>T | OMIM Allelic Variant:138850.0005 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.523_742del | 2798 | GNRHR | Pathogenic | 797044452 | RCV000030917; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68610506 | 68610506 | NM_000406.2:c.523_742del | | NC_000004.11:g.68610506C>T | OMIM Allelic Variant:138850.0011 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.511G>A (p.Ala171Thr) | 2798 | GNRHR | Pathogenic | 74452732 | RCV000030918; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619543 | 68619543 | NM_000406.2:c.511G>A | NP_000397.1:p.Ala171Thr | NC_000004.11:g.68619543C>T | OMIM Allelic Variant:138850.0012 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.504T>A (p.Ser168Arg) | 2798 | GNRHR | Pathogenic | 104893840 | RCV000030912; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619550 | 68619550 | NM_000406.2:c.504T>A | NP_000397.1:p.Ser168Arg | NC_000004.11:g.68619550A>T | OMIM Allelic Variant:138850.0006 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.416G>A (p.Arg139His) | 2798 | GNRHR | Likely pathogenic;Pathogenic | 104893842 | RCV000030914; RCV000203470; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619638 | 68619638 | NM_000406.2:c.416G>A | NP_000397.1:p.Arg139His | NC_000004.11:g.68619638C>T | OMIM Allelic Variant:138850.0008 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.416G>A (p.Arg139His) | 2798 | GNRHR | Likely pathogenic;Pathogenic | 104893842 | RCV000030914; RCV000203470; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619638 | 68619638 | NM_000406.2:c.416G>A | NP_000397.1:p.Arg139His | NC_000004.11:g.68619638C>T | OMIM Allelic Variant:138850.0008 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.392T>C (p.Met131Thr) | 2798 | GNRHR | Pathogenic | 606231406 | RCV000128826; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619662 | 68619662 | NM_000406.2:c.392T>C | NP_000397.1:p.Met131Thr | NC_000004.11:g.68619662A>G | - | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.392T>C (p.Met131Thr) | 2798 | GNRHR | Pathogenic | 606231406 | RCV000128826; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619662 | 68619662 | NM_000406.2:c.392T>C | NP_000397.1:p.Met131Thr | NC_000004.11:g.68619662A>G | - | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.386C>A (p.Ala129Asp) | 2798 | GNRHR | Pathogenic | 104893838 | RCV000030910; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619668 | 68619668 | NM_000406.2:c.386C>A | NP_000397.1:p.Ala129Asp | NC_000004.11:g.68619668G>T | OMIM Allelic Variant:138850.0004 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) | 2798 | GNRHR | Pathogenic | 104893836 | RCV000190591; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619737 | 68619737 | NM_000406.2:c.317A>G | NP_000397.1:p.Gln106Arg | NC_000004.11:g.68619737T>C | OMIM Allelic Variant:138850.0001 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.268G>A (p.Glu90Lys) | 2798 | GNRHR | Pathogenic | 104893844 | RCV000030916; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619786 | 68619786 | NM_000406.2:c.268G>A | NP_000397.1:p.Glu90Lys | NC_000004.11:g.68619786C>T | OMIM Allelic Variant:138850.0010 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.94A>G (p.Thr32Ala) | 2798 | GNRHR | Pathogenic | 515726219 | RCV000114425; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68619960 | 68619960 | NM_000406.2:c.94A>G | NP_000397.1:p.Thr32Ala | NC_000004.11:g.68619960T>C | - | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_001012763.1(GNRHR):c.30_31delTCinsAA (p.Asn10_Gln11delinsLysLys) | 2798 | GNRHR | Pathogenic | 281865427 | RCV000030919; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68620023 | 68620024 | NM_001012763.1:c.30_31delTCinsAA | NP_001012781.1:p.Asn10_Gln11delinsLysLys | NC_000004.11:g.68620023_68620024delGAinsTT | OMIM Allelic Variant:138850.0013 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |
NM_000406.2(GNRHR):c.30T>A (p.Asn10Lys) | 2798 | GNRHR | Pathogenic | 104893843 | RCV000030915; | N | MedGen:C0271623,OMIM:146110,SNOMED CT:33927004 | 4 | 68620024 | 68620024 | NM_000406.2:c.30T>A | NP_000397.1:p.Asn10Lys | NC_000004.11:g.68620024A>T | OMIM Allelic Variant:138850.0009 | C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia | | |