| NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys) |
single nucleotide variant |
not provided [RCV000523656] |
Chr4:67754147 [GRCh38]
Chr4:68619865 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) |
single nucleotide variant |
Amenorrhea [RCV001849268]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030908]|Hypogonadotropic hypogonadism [RCV004782017]|See cases [RCV004584328]|not provided [RCV000494391] |
Chr4:67740682 [GRCh38]
Chr4:68606400 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030909] |
Chr4:67740616 [GRCh38]
Chr4:68606334 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030910]|not provided [RCV001851889] |
Chr4:67753950 [GRCh38]
Chr4:68619668 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030911] |
Chr4:67744659 [GRCh38]
Chr4:68610377 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) |
single nucleotide variant |
Amenorrhea [RCV001849269]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030912] |
Chr4:67753832 [GRCh38]
Chr4:68619550 [GRCh37]
Chr4:4q13.2 |
pathogenic|uncertain significance |
| NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030913] |
Chr4:67740526 [GRCh38]
Chr4:68606244 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.416G>A (p.Arg139His) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030914]|not provided [RCV000497820] |
Chr4:67753920 [GRCh38]
Chr4:68619638 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030915]|Isolated GnRH Deficiency [RCV000375229] |
Chr4:67754306 [GRCh38]
Chr4:68620024 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030916]|not provided [RCV001560549] |
Chr4:67754068 [GRCh38]
Chr4:68619786 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| NM_000406.3(GNRHR):c.523-1G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030917] |
Chr4:67744788 [GRCh38]
Chr4:68610506 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030918] |
Chr4:67753825 [GRCh38]
Chr4:68619543 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030920] |
Chr4:67740508 [GRCh38]
Chr4:68606226 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) |
single nucleotide variant |
GNRHR-related disorder [RCV003415714]|Gonadotropin deficiency [RCV000662016]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000190591]|Hypogonadotropic hypogonadism [RCV003330392]|Inborn genetic diseases [RCV004018637]|Infertility disorder [RCV001327939]|Isolated congenital hypogonadotropic hypogonadism [RCV000599632]|not provided [RCV000255385] |
Chr4:67754019 [GRCh38]
Chr4:68619737 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) |
single nucleotide variant |
GNRHR-related disorder [RCV003935381]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000765786]|not provided [RCV000523077]|not specified [RCV001821457] |
Chr4:67753900 [GRCh38]
Chr4:68619618 [GRCh37]
Chr4:4q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 |
copy number loss |
See cases [RCV000050704] |
Chr4:66842408..70831557 [GRCh38]
Chr4:67708126..71697274 [GRCh37]
Chr4:67390721..71916138 [NCBI36]
Chr4:4q13.2-13.3 |
pathogenic |
| GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3 |
copy number gain |
See cases [RCV000051038] |
Chr4:65873016..68743024 [GRCh38]
Chr4:66738734..69608742 [GRCh37]
Chr4:66421329..69643331 [NCBI36]
Chr4:4q13.2 |
uncertain significance |
| GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 |
copy number gain |
See cases [RCV000051772] |
Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3 |
pathogenic |
| GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 |
copy number loss |
See cases [RCV000053293] |
Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3 |
pathogenic |
| NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000114424] |
Chr4:67740625 [GRCh38]
Chr4:68606343 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000114425] |
Chr4:67754242 [GRCh38]
Chr4:68619960 [GRCh37]
Chr4:4q13.2 |
pathogenic|uncertain significance |
| NM_000406.3(GNRHR):c.392T>C (p.Met131Thr) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000128826] |
Chr4:67753944 [GRCh38]
Chr4:68619662 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000128827] |
Chr4:67740661 [GRCh38]
Chr4:68606379 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1 |
copy number loss |
See cases [RCV000142366] |
Chr4:67744481..70267689 [GRCh38]
Chr4:68610199..71133406 [GRCh37]
Chr4:68292794..71167995 [NCBI36]
Chr4:4q13.2-13.3 |
uncertain significance |
| NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) |
single nucleotide variant |
Delayed puberty [RCV000156945]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000995775] |
Chr4:67753986 [GRCh38]
Chr4:68619704 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) |
indel |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030919]|not provided [RCV000498552] |
Chr4:67754305..67754306 [GRCh38]
Chr4:68620023..68620024 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| NM_000406.2(GNRHR):c.-1239T>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000261188] |
Chr4:67755574 [GRCh38]
Chr4:68621292 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-107C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000278514] |
Chr4:67754442 [GRCh38]
Chr4:68620160 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1570C>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000286221]|not provided [RCV001613154] |
Chr4:67755905 [GRCh38]
Chr4:68621623 [GRCh37]
Chr4:4q13.2 |
benign|likely benign|uncertain significance |
| NM_000406.3(GNRHR):c.*809C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000281409]|not provided [RCV004717530] |
Chr4:67739671 [GRCh38]
Chr4:68605389 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.523-15del |
deletion |
Isolated GnRH Deficiency [RCV000270618]|not provided [RCV002520263] |
Chr4:67744802 [GRCh38]
Chr4:68610520 [GRCh37]
Chr4:4q13.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000406.3(GNRHR):c.*1654C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000276419] |
Chr4:67738826 [GRCh38]
Chr4:68604544 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2919A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000276892] |
Chr4:67737561 [GRCh38]
Chr4:68603279 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*730T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000298913] |
Chr4:67739750 [GRCh38]
Chr4:68605468 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1255T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000332699] |
Chr4:67755590 [GRCh38]
Chr4:68621308 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*1575del |
deletion |
Isolated GnRH Deficiency [RCV000315384] |
Chr4:67738905 [GRCh38]
Chr4:68604623 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1144T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000353486] |
Chr4:67755479 [GRCh38]
Chr4:68621197 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*1891T>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000354694] |
Chr4:67738589 [GRCh38]
Chr4:68604307 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.2(GNRHR):c.-224A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000317207]|not provided [RCV001672646] |
Chr4:67754559 [GRCh38]
Chr4:68620277 [GRCh37]
Chr4:4q13.2 |
benign |
| NM_000406.2(GNRHR):c.-1563T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000400962] |
Chr4:67755898 [GRCh38]
Chr4:68621616 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.31C>A (p.Gln11Lys) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003989525]|Isolated GnRH Deficiency [RCV000318227] |
Chr4:67754305 [GRCh38]
Chr4:68620023 [GRCh37]
Chr4:4q13.2 |
likely pathogenic|uncertain significance |
| NM_000406.2(GNRHR):c.-62G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000357929]|not provided [RCV001672645] |
Chr4:67754397 [GRCh38]
Chr4:68620115 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.2(GNRHR):c.-1059G>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000319911] |
Chr4:67755394 [GRCh38]
Chr4:68621112 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*806G>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000338745] |
Chr4:67739674 [GRCh38]
Chr4:68605392 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*829T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000338992]|not provided [RCV004716267] |
Chr4:67739651 [GRCh38]
Chr4:68605369 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*2166G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000381028] |
Chr4:67738314 [GRCh38]
Chr4:68604032 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*2496G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000290190] |
Chr4:67737984 [GRCh38]
Chr4:68603702 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.2(GNRHR):c.-1434A>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000383856] |
Chr4:67755769 [GRCh38]
Chr4:68621487 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1497C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000291948]|not provided [RCV001692005] |
Chr4:67755832 [GRCh38]
Chr4:68621550 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.453C>T (p.Ser151=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000323308]|not provided [RCV001660731]|not specified [RCV000518057] |
Chr4:67753883 [GRCh38]
Chr4:68619601 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*2055G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000343215] |
Chr4:67738425 [GRCh38]
Chr4:68604143 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.648C>T (p.Phe216=) |
single nucleotide variant |
GNRHR-related disorder [RCV003932425]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000362731]|not provided [RCV000898629]|not specified [RCV000600986] |
Chr4:67744662 [GRCh38]
Chr4:68610380 [GRCh37]
Chr4:4q13.2 |
likely benign|uncertain significance |
| NM_000406.2(GNRHR):c.-904A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000307832]|not provided [RCV004716268] |
Chr4:67755239 [GRCh38]
Chr4:68620957 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.2(GNRHR):c.-1636T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000343526] |
Chr4:67755971 [GRCh38]
Chr4:68621689 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2663G>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000386570] |
Chr4:67737817 [GRCh38]
Chr4:68603535 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.2(GNRHR):c.-1311A>G |
single nucleotide variant |
Isolated GnRH Deficiency [RCV000293123] |
Chr4:67755646 [GRCh38]
Chr4:68621364 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1542delT |
deletion |
Isolated GnRH Deficiency [RCV000344654]|not provided [RCV001683391] |
Chr4:67755868 [GRCh38]
Chr4:68621586 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.2(GNRHR):c.-1279G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000389546] |
Chr4:67755614 [GRCh38]
Chr4:68621332 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*1155del |
deletion |
Isolated GnRH Deficiency [RCV000327224] |
Chr4:67739325 [GRCh38]
Chr4:68605043 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1260G>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000328188]|not provided [RCV004716266] |
Chr4:67739220 [GRCh38]
Chr4:68604938 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.2(GNRHR):c.-731C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000347516] |
Chr4:67755066 [GRCh38]
Chr4:68620784 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.*2328A>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000347457] |
Chr4:67738152 [GRCh38]
Chr4:68603870 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1347A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000367705] |
Chr4:67739133 [GRCh38]
Chr4:68604851 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-541G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000296214] |
Chr4:67754876 [GRCh38]
Chr4:68620594 [GRCh37]
Chr4:4q13.2 |
likely benign|uncertain significance |
| NM_000406.3(GNRHR):c.*495T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000311635]|not provided [RCV004695811] |
Chr4:67739985 [GRCh38]
Chr4:68605703 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2802T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000329663] |
Chr4:67737678 [GRCh38]
Chr4:68603396 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*802G>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000393012]|not provided [RCV004717531] |
Chr4:67739678 [GRCh38]
Chr4:68605396 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*1892C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000297476] |
Chr4:67738588 [GRCh38]
Chr4:68604306 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*583A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000351476]|not provided [RCV004717532] |
Chr4:67739897 [GRCh38]
Chr4:68605615 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*1193C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000269685] |
Chr4:67739287 [GRCh38]
Chr4:68605005 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-991A>G |
single nucleotide variant |
Isolated GnRH Deficiency [RCV000262395] |
Chr4:67755326 [GRCh38]
Chr4:68621044 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1295dup |
duplication |
Isolated GnRH Deficiency [RCV000275376] |
Chr4:67739184..67739185 [GRCh38]
Chr4:68604902..68604903 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2032dup |
duplication |
Isolated GnRH Deficiency [RCV000392902] |
Chr4:67738447..67738448 [GRCh38]
Chr4:68604165..68604166 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*513dup |
duplication |
Isolated GnRH Deficiency [RCV000393015] |
Chr4:67739966..67739967 [GRCh38]
Chr4:68605684..68605685 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-962G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000302326] |
Chr4:67755297 [GRCh38]
Chr4:68621015 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2031dup |
duplication |
Isolated GnRH Deficiency [RCV000303560] |
Chr4:67738448..67738449 [GRCh38]
Chr4:68604166..68604167 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1319C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000331740] |
Chr4:67755654 [GRCh38]
Chr4:68621372 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1948C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000402441] |
Chr4:67738532 [GRCh38]
Chr4:68604250 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-576G>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000348253] |
Chr4:67754911 [GRCh38]
Chr4:68620629 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1248A>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000385229] |
Chr4:67739232 [GRCh38]
Chr4:68604950 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.773T>C (p.Ile258Thr) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000404324] |
Chr4:67740694 [GRCh38]
Chr4:68606412 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*349A>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000368769] |
Chr4:67740131 [GRCh38]
Chr4:68605849 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-927C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000406118] |
Chr4:67755262 [GRCh38]
Chr4:68620980 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*3076T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000387672] |
Chr4:67737404 [GRCh38]
Chr4:68603122 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-509_-505delAAAGA |
deletion |
Isolated GnRH Deficiency [RCV000388172] |
Chr4:67754838..67754842 [GRCh38]
Chr4:68620556..68620560 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1984T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000337424] |
Chr4:67738496 [GRCh38]
Chr4:68604214 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*832T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000286281] |
Chr4:67739648 [GRCh38]
Chr4:68605366 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1741G>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000391643] |
Chr4:67756076 [GRCh38]
Chr4:68621794 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.743-9A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000310316] |
Chr4:67740733 [GRCh38]
Chr4:68606451 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-877C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000392473] |
Chr4:67755212 [GRCh38]
Chr4:68620930 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-683T>G |
single nucleotide variant |
Isolated GnRH Deficiency [RCV000392502] |
Chr4:67755018 [GRCh38]
Chr4:68620736 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2165A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000288940] |
Chr4:67738315 [GRCh38]
Chr4:68604033 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-980G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000359378] |
Chr4:67755315 [GRCh38]
Chr4:68621033 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-922A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000360097] |
Chr4:67755257 [GRCh38]
Chr4:68620975 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*819A>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000377281] |
Chr4:67739661 [GRCh38]
Chr4:68605379 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-721A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000290252] |
Chr4:67755056 [GRCh38]
Chr4:68620774 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1144A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000379451] |
Chr4:67739336 [GRCh38]
Chr4:68605054 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1302G>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151692] |
Chr4:67739178 [GRCh38]
Chr4:68604896 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.143T>C (p.Leu48Pro) |
single nucleotide variant |
not provided [RCV000585491] |
Chr4:67754193 [GRCh38]
Chr4:68619911 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.2(chr4:68267070-69203425)x3 |
copy number gain |
See cases [RCV000449358] |
Chr4:68267070..69203425 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_000406.3(GNRHR):c.633T>A (p.Tyr211Ter) |
single nucleotide variant |
not provided [RCV000418487] |
Chr4:67744677 [GRCh38]
Chr4:68610395 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| GRCh37/hg19 4q13.2(chr4:67997060-69198391)x3 |
copy number gain |
See cases [RCV000447856] |
Chr4:67997060..69198391 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.413A>G (p.Asp138Gly) |
single nucleotide variant |
not provided [RCV000478033] |
Chr4:67753923 [GRCh38]
Chr4:68619641 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 |
copy number loss |
See cases [RCV000510445] |
Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3 |
copy number gain |
not provided [RCV000682409] |
Chr4:64705501..73469716 [GRCh37]
Chr4:4q13.1-13.3 |
pathogenic |
| GRCh37/hg19 4q13.1-13.2(chr4:65395609-69170853)x1 |
copy number loss |
not provided [RCV000682411] |
Chr4:65395609..69170853 [GRCh37]
Chr4:4q13.1-13.2 |
uncertain significance |
| GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1 |
copy number loss |
not provided [RCV000743602] |
Chr4:58332294..71587615 [GRCh37]
Chr4:4q12-13.3 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NC_000004.12:g.67756228_67756237del |
deletion |
not provided [RCV001612916] |
Chr4:67756227..67756236 [GRCh38]
Chr4:68621945..68621954 [GRCh37]
Chr4:4q13.2 |
benign |
| NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001336843]|not provided [RCV000903894]|not specified [RCV004997480] |
Chr4:67744591 [GRCh38]
Chr4:68610309 [GRCh37]
Chr4:4q13.2 |
benign|likely benign|uncertain significance |
| NM_000406.3(GNRHR):c.281T>C (p.Val94Ala) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000779451]|not provided [RCV003546600] |
Chr4:67754055 [GRCh38]
Chr4:68619773 [GRCh37]
Chr4:4q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787447] |
Chr4:61605456..68762943 [GRCh37]
Chr4:4q13.1-13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.144C>G (p.Leu48=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153044]|not provided [RCV000966915] |
Chr4:67754192 [GRCh38]
Chr4:68619910 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.51C>A (p.Ile17=) |
single nucleotide variant |
not provided [RCV000917399] |
Chr4:67754285 [GRCh38]
Chr4:68620003 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.981T>C (p.Ser327=) |
single nucleotide variant |
GNRHR-related disorder [RCV003960695]|not provided [RCV000958738] |
Chr4:67740486 [GRCh38]
Chr4:68606204 [GRCh37]
Chr4:4q13.2 |
benign|likely benign |
| NM_000406.3(GNRHR):c.*1797A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151690] |
Chr4:67738683 [GRCh38]
Chr4:68604401 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 |
copy number gain |
not provided [RCV000845944] |
Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22 |
pathogenic |
| NM_000406.2(GNRHR):c.-1251T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151896] |
Chr4:67755586 [GRCh38]
Chr4:68621304 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.399G>A (p.Val133=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153042] |
Chr4:67753937 [GRCh38]
Chr4:68619655 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1701A>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153156] |
Chr4:67756036 [GRCh38]
Chr4:68621754 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3 |
copy number gain |
not provided [RCV001005552] |
Chr4:67392949..69837294 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2588C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155468] |
Chr4:67737892 [GRCh38]
Chr4:68603610 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.783A>G (p.Ala261=) |
single nucleotide variant |
not provided [RCV000890475] |
Chr4:67740684 [GRCh38]
Chr4:68606402 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NC_000004.12:g.67756240dup |
duplication |
not provided [RCV001572075] |
Chr4:67756237..67756238 [GRCh38]
Chr4:68621955..68621956 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.*696A>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155567] |
Chr4:67739784 [GRCh38]
Chr4:68605502 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2248T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157145] |
Chr4:67738232 [GRCh38]
Chr4:68603950 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*668G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157251] |
Chr4:67739812 [GRCh38]
Chr4:68605530 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*466T>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157255] |
Chr4:67740014 [GRCh38]
Chr4:68605732 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*385A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157256] |
Chr4:67740095 [GRCh38]
Chr4:68605813 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.*2196G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157147] |
Chr4:67738284 [GRCh38]
Chr4:68604002 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*662T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157252] |
Chr4:67739818 [GRCh38]
Chr4:68605536 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*193A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151793] |
Chr4:67740287 [GRCh38]
Chr4:68606005 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.666C>T (p.Ile222=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151794]|Inborn genetic diseases [RCV004978062] |
Chr4:67744644 [GRCh38]
Chr4:68610362 [GRCh37]
Chr4:4q13.2 |
likely benign|uncertain significance |
| NM_000406.3(GNRHR):c.576T>C (p.Val192=) |
single nucleotide variant |
GNRHR-related disorder [RCV003898148]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151795] |
Chr4:67744734 [GRCh38]
Chr4:68610452 [GRCh37]
Chr4:4q13.2 |
likely benign|uncertain significance |
| NM_000406.3(GNRHR):c.215A>G (p.Lys72Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153043] |
Chr4:67754121 [GRCh38]
Chr4:68619839 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1301A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152929] |
Chr4:67739179 [GRCh38]
Chr4:68604897 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*1275G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152930] |
Chr4:67739205 [GRCh38]
Chr4:68604923 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.12T>G (p.Ser4Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153045] |
Chr4:67754324 [GRCh38]
Chr4:68620042 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2748C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155467] |
Chr4:67737732 [GRCh38]
Chr4:68603450 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.465C>T (p.Val155=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151796] |
Chr4:67753871 [GRCh38]
Chr4:68619589 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3 |
copy number gain |
Cognitive impairment [RCV001004821] |
Chr4:66969699..69462438 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*78G>A |
single nucleotide variant |
not provided [RCV001547866] |
Chr4:67740402 [GRCh38]
Chr4:68606120 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.*1532C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151691] |
Chr4:67738948 [GRCh38]
Chr4:68604666 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1464G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151897] |
Chr4:67755799 [GRCh38]
Chr4:68621517 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2772A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155465] |
Chr4:67737708 [GRCh38]
Chr4:68603426 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2244T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157146] |
Chr4:67738236 [GRCh38]
Chr4:68603954 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*622T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157253] |
Chr4:67739858 [GRCh38]
Chr4:68605576 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*474T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157254] |
Chr4:67740006 [GRCh38]
Chr4:68605724 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.-8G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153046]|not provided [RCV001759909] |
Chr4:67754343 [GRCh38]
Chr4:68620061 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2441T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155469] |
Chr4:67738039 [GRCh38]
Chr4:68603757 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.2(GNRHR):c.-699T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155666] |
Chr4:67755034 [GRCh38]
Chr4:68620752 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*3011T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001154629] |
Chr4:67737469 [GRCh38]
Chr4:68603187 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*2767T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155466] |
Chr4:67737713 [GRCh38]
Chr4:68603431 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.*928C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152931] |
Chr4:67739552 [GRCh38]
Chr4:68605270 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.*912C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152932] |
Chr4:67739568 [GRCh38]
Chr4:68605286 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.2(GNRHR):c.-1702A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153157] |
Chr4:67756037 [GRCh38]
Chr4:68621755 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 |
copy number loss |
Piebaldism [RCV001420508] |
Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1 |
pathogenic |
| NM_000406.3(GNRHR):c.742+35C>T |
single nucleotide variant |
not provided [RCV001666811] |
Chr4:67744533 [GRCh38]
Chr4:68610251 [GRCh37]
Chr4:4q13.2 |
benign |
| NM_000406.3(GNRHR):c.969T>C (p.Tyr323=) |
single nucleotide variant |
not provided [RCV003108671] |
Chr4:67740498 [GRCh38]
Chr4:68606216 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.836G>A (p.Cys279Tyr) |
single nucleotide variant |
not provided [RCV001733271] |
Chr4:67740631 [GRCh38]
Chr4:68606349 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.677T>C (p.Ile226Thr) |
single nucleotide variant |
not provided [RCV001767389] |
Chr4:67744633 [GRCh38]
Chr4:68610351 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.430A>C (p.Thr144Pro) |
single nucleotide variant |
not provided [RCV001765168] |
Chr4:67753906 [GRCh38]
Chr4:68619624 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.156del (p.Phe52fs) |
deletion |
not provided [RCV001818051] |
Chr4:67754180 [GRCh38]
Chr4:68619898 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 |
copy number gain |
not provided [RCV001827738] |
Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21 |
pathogenic |
| NM_000406.3(GNRHR):c.247C>G (p.Leu83Val) |
single nucleotide variant |
not provided [RCV002025874] |
Chr4:67754089 [GRCh38]
Chr4:68619807 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) |
copy number loss |
not specified [RCV002053422] |
Chr4:61867555..74711517 [GRCh37]
Chr4:4q13.1-13.3 |
pathogenic |
| NM_000406.3(GNRHR):c.73C>A (p.Gln25Lys) |
single nucleotide variant |
not provided [RCV001913946] |
Chr4:67754263 [GRCh38]
Chr4:68619981 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003225761]|not provided [RCV002024394] |
Chr4:67740670 [GRCh38]
Chr4:68606388 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| GRCh37/hg19 4q13.2(chr4:68272006-68923410) |
copy number gain |
not specified [RCV002053424] |
Chr4:68272006..68923410 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.2(chr4:67997060-69198391) |
copy number gain |
not specified [RCV002053423] |
Chr4:67997060..69198391 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.820A>G (p.Thr274Ala) |
single nucleotide variant |
not provided [RCV001962247] |
Chr4:67740647 [GRCh38]
Chr4:68606365 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002497886]|not provided [RCV001972778] |
Chr4:67753935 [GRCh38]
Chr4:68619653 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.415C>T (p.Arg139Cys) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002210937] |
Chr4:67753921 [GRCh38]
Chr4:68619639 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.742+17G>A |
single nucleotide variant |
not provided [RCV002140186] |
Chr4:67744551 [GRCh38]
Chr4:68610269 [GRCh37]
Chr4:4q13.2 |
benign |
| NM_000406.3(GNRHR):c.845C>T (p.Pro282Leu) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002290235] |
Chr4:67740622 [GRCh38]
Chr4:68606340 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| GRCh37/hg19 4q13.2(chr4:68485743-69138293)x3 |
copy number gain |
not provided [RCV002473874] |
Chr4:68485743..69138293 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.2(chr4:67729321-68949586)x3 |
copy number gain |
not provided [RCV002472743] |
Chr4:67729321..68949586 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| GRCh37/hg19 4q13.1-13.2(chr4:66215872-68647080)x1 |
copy number loss |
not provided [RCV002473432] |
Chr4:66215872..68647080 [GRCh37]
Chr4:4q13.1-13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.868T>C (p.Tyr290His) |
single nucleotide variant |
not provided [RCV002305911] |
Chr4:67740599 [GRCh38]
Chr4:68606317 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.187T>C (p.Trp63Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002727399] |
Chr4:67754149 [GRCh38]
Chr4:68619867 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.540G>A (p.Met180Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002752635] |
Chr4:67744770 [GRCh38]
Chr4:68610488 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.416G>T (p.Arg139Leu) |
single nucleotide variant |
not provided [RCV002838481] |
Chr4:67753920 [GRCh38]
Chr4:68619638 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.848A>C (p.Tyr283Ser) |
single nucleotide variant |
not provided [RCV002820378] |
Chr4:67740619 [GRCh38]
Chr4:68606337 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.840G>C (p.Trp280Cys) |
single nucleotide variant |
not provided [RCV002998711] |
Chr4:67740627 [GRCh38]
Chr4:68606345 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.285G>T (p.Met95Ile) |
single nucleotide variant |
not provided [RCV002640042] |
Chr4:67754051 [GRCh38]
Chr4:68619769 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.910G>C (p.Val304Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002826242] |
Chr4:67740557 [GRCh38]
Chr4:68606275 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.202G>A (p.Glu68Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002787628] |
Chr4:67754134 [GRCh38]
Chr4:68619852 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV002664343] |
Chr4:67754334 [GRCh38]
Chr4:68620052 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.784C>T (p.Arg262Trp) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005045238]|not provided [RCV003061549] |
Chr4:67740683 [GRCh38]
Chr4:68606401 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| NM_000406.3(GNRHR):c.380C>T (p.Ala127Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004073298]|not provided [RCV003088764] |
Chr4:67753956 [GRCh38]
Chr4:68619674 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.172T>C (p.Leu58=) |
single nucleotide variant |
not provided [RCV002629254] |
Chr4:67754164 [GRCh38]
Chr4:68619882 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.652T>C (p.Cys218Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003211184] |
Chr4:67744658 [GRCh38]
Chr4:68610376 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.35del (p.Asn12fs) |
deletion |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003324361] |
Chr4:67754301 [GRCh38]
Chr4:68620019 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.521A>G (p.Gln174Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003331694] |
Chr4:67753815 [GRCh38]
Chr4:68619533 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1 |
copy number loss |
not provided [RCV003485417] |
Chr4:57584845..72430996 [GRCh37]
Chr4:4q12-13.3 |
pathogenic |
| NM_000406.3(GNRHR):c.847T>C (p.Tyr283His) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV004690444]|not provided [RCV003571496] |
Chr4:67740620 [GRCh38]
Chr4:68606338 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3 |
copy number gain |
not provided [RCV003484182] |
Chr4:63684557..71480358 [GRCh37]
Chr4:4q13.1-13.3 |
pathogenic |
| NM_000406.3(GNRHR):c.528C>T (p.Tyr176=) |
single nucleotide variant |
not provided [RCV003670352] |
Chr4:67744782 [GRCh38]
Chr4:68610500 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.351_352del (p.Ser118fs) |
deletion |
Isolated congenital hypogonadotropic hypogonadism [RCV004017999]|not provided [RCV003680976] |
Chr4:67753984..67753985 [GRCh38]
Chr4:68619702..68619703 [GRCh37]
Chr4:4q13.2 |
pathogenic|likely pathogenic |
| NM_000406.3(GNRHR):c.113G>A (p.Arg38Gln) |
single nucleotide variant |
not provided [RCV003860661] |
Chr4:67754223 [GRCh38]
Chr4:68619941 [GRCh37]
Chr4:4q13.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 4q13.1-13.2(chr4:65646937-68662306)x3 |
copy number gain |
not specified [RCV003986482] |
Chr4:65646937..68662306 [GRCh37]
Chr4:4q13.1-13.2 |
uncertain significance |
| GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2 |
pathogenic |
| NM_000406.3(GNRHR):c.120G>A (p.Thr40=) |
single nucleotide variant |
GNRHR-related disorder [RCV003974190] |
Chr4:67754216 [GRCh38]
Chr4:68619934 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.225A>C (p.Arg75Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004395576] |
Chr4:67754111 [GRCh38]
Chr4:68619829 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.373A>G (p.Met125Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004395577] |
Chr4:67753963 [GRCh38]
Chr4:68619681 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.718C>T (p.Arg240Trp) |
single nucleotide variant |
not specified [RCV004526484] |
Chr4:67744592 [GRCh38]
Chr4:68610310 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.746T>C (p.Leu249Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004395578] |
Chr4:67740721 [GRCh38]
Chr4:68606439 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.888G>C (p.Met296Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004395580] |
Chr4:67740579 [GRCh38]
Chr4:68606297 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.386C>T (p.Ala129Val) |
single nucleotide variant |
not specified [RCV004587755] |
Chr4:67753950 [GRCh38]
Chr4:68619668 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.488C>A (p.Ala163Asp) |
single nucleotide variant |
not provided [RCV004697655] |
Chr4:67753848 [GRCh38]
Chr4:68619566 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.248del (p.Leu83fs) |
deletion |
See cases [RCV004579613] |
Chr4:67754088 [GRCh38]
Chr4:68619806 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.808G>A (p.Val270Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004629932] |
Chr4:67740659 [GRCh38]
Chr4:68606377 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.822T>G (p.Thr274=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV004819056] |
Chr4:67740645 [GRCh38]
Chr4:68606363 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.777A>T (p.Pro259=) |
single nucleotide variant |
GNRHR-related disorder [RCV004748245] |
Chr4:67740690 [GRCh38]
Chr4:68606408 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.401T>C (p.Val134Ala) |
single nucleotide variant |
not provided [RCV004769610] |
Chr4:67753935 [GRCh38]
Chr4:68619653 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.918CTT[2] (p.Phe309del) |
microsatellite |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV004795809] |
Chr4:67740541..67740543 [GRCh38]
Chr4:68606259..68606261 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.683T>C (p.Leu228Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004983753] |
Chr4:67744627 [GRCh38]
Chr4:68610345 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.89C>T (p.Thr30Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004982681] |
Chr4:67754247 [GRCh38]
Chr4:68619965 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.863T>A (p.Ile288Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004982684] |
Chr4:67740604 [GRCh38]
Chr4:68606322 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.741C>T (p.His247=) |
single nucleotide variant |
Inborn genetic diseases [RCV004982682] |
Chr4:67744569 [GRCh38]
Chr4:68610287 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.9C>G (p.Asn3Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004982683] |
Chr4:67754327 [GRCh38]
Chr4:68620045 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.497T>C (p.Leu166Pro) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039235] |
Chr4:67753839 [GRCh38]
Chr4:68619557 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.583C>T (p.Gln195Ter) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039233] |
Chr4:67744727 [GRCh38]
Chr4:68610445 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.710C>A (p.Thr237Asn) |
single nucleotide variant |
not provided [RCV005066927] |
Chr4:67744600 [GRCh38]
Chr4:68610318 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.469C>T (p.Gln157Ter) |
single nucleotide variant |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039236] |
Chr4:67753867 [GRCh38]
Chr4:68619585 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.113dup (p.Val39fs) |
duplication |
Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039237] |
Chr4:67754222..67754223 [GRCh38]
Chr4:68619940..68619941 [GRCh37]
Chr4:4q13.2 |
pathogenic |
| NM_000406.3(GNRHR):c.710C>T (p.Thr237Ile) |
single nucleotide variant |
not provided [RCV005205669] |
Chr4:67744600 [GRCh38]
Chr4:68610318 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.512C>T (p.Ala171Val) |
single nucleotide variant |
not provided [RCV005138250] |
Chr4:67753824 [GRCh38]
Chr4:68619542 [GRCh37]
Chr4:4q13.2 |
likely pathogenic |
| NM_000406.3(GNRHR):c.533T>G (p.Phe178Cys) |
single nucleotide variant |
not provided [RCV005167659] |
Chr4:67744777 [GRCh38]
Chr4:68610495 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.887T>A (p.Met296Lys) |
single nucleotide variant |
not provided [RCV005084239] |
Chr4:67740580 [GRCh38]
Chr4:68606298 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.432G>A (p.Thr144=) |
single nucleotide variant |
not provided [RCV005068650] |
Chr4:67753904 [GRCh38]
Chr4:68619622 [GRCh37]
Chr4:4q13.2 |
likely benign |
| NM_000406.3(GNRHR):c.299T>G (p.Met100Arg) |
single nucleotide variant |
not provided [RCV005073613] |
Chr4:67754037 [GRCh38]
Chr4:68619755 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
| NM_000406.3(GNRHR):c.319T>C (p.Trp107Arg) |
single nucleotide variant |
not provided [RCV005183071] |
Chr4:67754017 [GRCh38]
Chr4:68619735 [GRCh37]
Chr4:4q13.2 |
uncertain significance |
