| NM_000233.4(LHCGR):c.1057T>C (p.Cys353Arg) |
single nucleotide variant |
not provided [RCV000519869] |
Chr2:48688740 [GRCh38]
Chr2:48915879 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| LHCGR, ASP582GLY |
variation |
Gonadotropin-independent familial sexual precocity [RCV000015463] |
Chr2:2p21 |
pathogenic |
| NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) |
deletion |
Leydig cell agenesis [RCV000015479]|Luteinizing hormone resistance, female [RCV000015480] |
Chr2:48687968..48687973 [GRCh38]
Chr2:48915107..48915112 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| LHCGR, LEU-GLN INS, CODON 19-20 |
insertion |
Luteinizing hormone/choriogonadotropin receptor, lq variant [RCV000015482] |
Chr2:2p21 |
pathogenic |
| NM_000233.4(LHCGR):c.866+1515_948-2168del |
deletion |
Leydig cell hypoplasia, type II [RCV000015485] |
Chr2:48691017..48697100 [GRCh38]
Chr2:48918156..48924239 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) |
microsatellite |
Leydig cell agenesis [RCV000015486]|not provided [RCV002513064] |
Chr2:48755616..48755617 [GRCh38]
Chr2:48982755..48982756 [GRCh37]
Chr2:2p16.3 |
pathogenic|uncertain significance |
| NM_000233.4(LHCGR):c.709del (p.Leu237fs) |
deletion |
Leydig cell agenesis [RCV000656703] |
Chr2:48698772 [GRCh38]
Chr2:48925911 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala) |
single nucleotide variant |
not specified [RCV000518619] |
Chr2:48688064 [GRCh38]
Chr2:48915203 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015461]|Leydig cell agenesis [RCV000763499]|Precocious puberty in males [RCV000583503]|not provided [RCV000517056] |
Chr2:48688064 [GRCh38]
Chr2:48915203 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015462] |
Chr2:48688084 [GRCh38]
Chr2:48915223 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) |
single nucleotide variant |
Leydig cell agenesis [RCV000015464] |
Chr2:48688170 [GRCh38]
Chr2:48915309 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) |
single nucleotide variant |
Leydig cell agenesis [RCV000015465]|Luteinizing hormone resistance, female [RCV000015466] |
Chr2:48688020 [GRCh38]
Chr2:48915159 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015467]|not provided [RCV002466405] |
Chr2:48688067 [GRCh38]
Chr2:48915206 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015468]|not provided [RCV002472931] |
Chr2:48688082 [GRCh38]
Chr2:48915221 [GRCh37]
Chr2:2p16.3 |
pathogenic|uncertain significance |
| NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) |
single nucleotide variant |
Leydig cell agenesis [RCV000015469]|Leydig cell agenesis [RCV002490374]|not provided [RCV003546456] |
Chr2:48688162 [GRCh38]
Chr2:48915301 [GRCh37]
Chr2:2p16.3 |
pathogenic|likely pathogenic |
| NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) |
single nucleotide variant |
Leydig cell agenesis [RCV000015470]|Luteinizing hormone resistance, female [RCV000015471]|See cases [RCV002251907]|not provided [RCV001781270] |
Chr2:48688137 [GRCh38]
Chr2:48915276 [GRCh37]
Chr2:2p16.3 |
pathogenic|likely pathogenic |
| NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr) |
single nucleotide variant |
Leydig cell agenesis [RCV003137526]|Leydig hypoplasia, type I [RCV000015472]|not provided [RCV002514103] |
Chr2:48687950 [GRCh38]
Chr2:48915089 [GRCh37]
Chr2:2p16.3 |
pathogenic|likely pathogenic |
| NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015473]|Precocious puberty in males [RCV000581515] |
Chr2:48688604 [GRCh38]
Chr2:48915743 [GRCh37]
Chr2:2p16.3 |
pathogenic|likely pathogenic |
| NM_000233.4(LHCGR):c.391T>C (p.Cys131Arg) |
single nucleotide variant |
Leydig cell hypoplasia, type II [RCV000015475] |
Chr2:48723689 [GRCh38]
Chr2:48950828 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015476] |
Chr2:48688679 [GRCh38]
Chr2:48915818 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) |
single nucleotide variant |
Leydig cell agenesis [RCV000015477]|Luteinizing hormone resistance, female [RCV000015478] |
Chr2:48688737 [GRCh38]
Chr2:48915876 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys) |
single nucleotide variant |
Leydig cell hypoplasia, type II [RCV000015481] |
Chr2:48687923 [GRCh38]
Chr2:48915062 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015483]|LHCGR-related condition [RCV003407338]|not provided [RCV001851873] |
Chr2:48688173 [GRCh38]
Chr2:48915312 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1732G>C (p.Asp578His) |
single nucleotide variant |
Leydig cell adenoma, somatic, with male-limited precocious puberty [RCV000015484] |
Chr2:48688065 [GRCh38]
Chr2:48915204 [GRCh37]
Chr2:2p16.3 |
pathogenic|other |
| NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015487] |
Chr2:48688694 [GRCh38]
Chr2:48915833 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015488] |
Chr2:48688094 [GRCh38]
Chr2:48915233 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015489] |
Chr2:48688427 [GRCh38]
Chr2:48915566 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser) |
single nucleotide variant |
Leydig cell agenesis [RCV000015490] |
Chr2:48688770 [GRCh38]
Chr2:48915909 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) |
single nucleotide variant |
Leydig cell agenesis [RCV000015491] |
Chr2:48688292 [GRCh38]
Chr2:48915431 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) |
single nucleotide variant |
Leydig cell agenesis [RCV000015492] |
Chr2:48723650 [GRCh38]
Chr2:48950789 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000015493]|not provided [RCV000712217] |
Chr2:48688106 [GRCh38]
Chr2:48915245 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000030141] |
Chr2:48688065 [GRCh38]
Chr2:48915204 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.458+3A>G |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000030142]|Hypergonadotropic hypogonadism [RCV000283986]|Leydig cell agenesis [RCV000324216]|not provided [RCV000522874] |
Chr2:48723619 [GRCh38]
Chr2:48950758 [GRCh37]
Chr2:2p16.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000233.4(LHCGR):c.605+52del |
deletion |
Gonadotropin-independent familial sexual precocity [RCV000030143]|not provided [RCV001642242] |
Chr2:48713934 [GRCh38]
Chr2:48941073 [GRCh37]
Chr2:2p16.3 |
benign|uncertain significance |
| NM_000233.3(LHCGR):c.948-828T>G |
single nucleotide variant |
Lung cancer [RCV000092125] |
Chr2:48689677 [GRCh38]
Chr2:48916816 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 |
copy number gain |
See cases [RCV000052943] |
Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1 |
pathogenic |
| NM_000233.4(LHCGR):c.672G>A (p.Pro224=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140145]|Leydig cell agenesis [RCV001140144]|not provided [RCV002513791] |
Chr2:48708956 [GRCh38]
Chr2:48936095 [GRCh37]
Chr2:48789599 [NCBI36]
Chr2:2p16.3 |
benign|likely benign|uncertain significance|not provided |
| NM_000233.3(LHCGR):c.235G>A (p.Glu79Lys) |
single nucleotide variant |
Malignant melanoma [RCV000065621] |
Chr2:48729226 [GRCh38]
Chr2:48956365 [GRCh37]
Chr2:48809869 [NCBI36]
Chr2:2p16.3 |
not provided |
| NM_000233.3(LHCGR):c.1400C>T (p.Thr467Ile) |
single nucleotide variant |
Malignant melanoma [RCV000060581] |
Chr2:48688397 [GRCh38]
Chr2:48915536 [GRCh37]
Chr2:48769040 [NCBI36]
Chr2:2p16.3 |
not provided |
| NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000393912]|Hypergonadotropic hypogonadism [RCV000305995]|Leydig cell agenesis [RCV000342135]|not provided [RCV002055659]|not specified [RCV000126622] |
Chr2:48694299 [GRCh38]
Chr2:48921438 [GRCh37]
Chr2:2p16.3 |
benign |
| GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1 |
copy number loss |
See cases [RCV000133939] |
Chr2:46806218..50565538 [GRCh38]
Chr2:47033357..50792676 [GRCh37]
Chr2:46886861..50646180 [NCBI36]
Chr2:2p21-16.3 |
pathogenic |
| GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 |
copy number gain |
See cases [RCV000137586] |
Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2 |
uncertain significance |
| GRCh38/hg38 2p16.3(chr2:48634764-48761441)x0 |
copy number loss |
See cases [RCV000140457] |
Chr2:48634764..48761441 [GRCh38]
Chr2:48861903..48988580 [GRCh37]
Chr2:48715407..48842084 [NCBI36]
Chr2:2p16.3 |
pathogenic |
| GRCh38/hg38 2p16.3(chr2:48543380-49241978)x3 |
copy number gain |
See cases [RCV000142001] |
Chr2:48543380..49241978 [GRCh38]
Chr2:48770519..49469117 [GRCh37]
Chr2:48624023..49322621 [NCBI36]
Chr2:2p16.3 |
uncertain significance |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p16.3(chr2:48581695-49195508)x3 |
copy number gain |
See cases [RCV000142537] |
Chr2:48581695..49195508 [GRCh38]
Chr2:48808834..49422647 [GRCh37]
Chr2:48662338..49276151 [NCBI36]
Chr2:2p16.3 |
likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.*148T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000265115]|Hypergonadotropic hypogonadism [RCV000320826]|Leydig cell agenesis [RCV000378894]|not provided [RCV001643033] |
Chr2:48687549 [GRCh38]
Chr2:48914688 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000318790]|Hypergonadotropic hypogonadism [RCV000263657]|Leydig cell agenesis [RCV000373581]|not provided [RCV000731559] |
Chr2:48688437 [GRCh38]
Chr2:48915576 [GRCh37]
Chr2:2p16.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter) |
single nucleotide variant |
Leydig cell agenesis [RCV000581164] |
Chr2:48687928 [GRCh38]
Chr2:48915067 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) |
single nucleotide variant |
Leydig cell agenesis [RCV000582170]|not provided [RCV002225682] |
Chr2:48725689 [GRCh38]
Chr2:48952828 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.81G>A (p.Glu27=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000323373]|Hypergonadotropic hypogonadism [RCV000268098]|Leydig cell agenesis [RCV000362727] |
Chr2:48755591 [GRCh38]
Chr2:48982730 [GRCh37]
Chr2:2p16.3 |
likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.*221G>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000363622]|Hypergonadotropic hypogonadism [RCV000324261]|Leydig cell agenesis [RCV000269092]|not provided [RCV001598656] |
Chr2:48687476 [GRCh38]
Chr2:48914615 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.*383C>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000286128]|Hypergonadotropic hypogonadism [RCV000380512]|Leydig cell agenesis [RCV000325877] |
Chr2:48687314 [GRCh38]
Chr2:48914453 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.54G>A (p.Gln18=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000335238]|Hypergonadotropic hypogonadism [RCV000280149]|LHCGR-related condition [RCV003972424]|Leydig cell agenesis [RCV000374643] |
Chr2:48755618 [GRCh38]
Chr2:48982757 [GRCh37]
Chr2:2p16.3 |
likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.*131C>T |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000375414]|Hypergonadotropic hypogonadism [RCV000335919]|Leydig cell agenesis [RCV000280854]|not provided [RCV001590982] |
Chr2:48687566 [GRCh38]
Chr2:48914705 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.430G>A (p.Val144Ile) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000280904]|Hypergonadotropic hypogonadism [RCV000338998]|Leydig cell agenesis [RCV000401542]|not provided [RCV001753800] |
Chr2:48723650 [GRCh38]
Chr2:48950789 [GRCh37]
Chr2:2p16.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000233.4(LHCGR):c.*360G>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000282373]|Hypergonadotropic hypogonadism [RCV000400075]|Leydig cell agenesis [RCV000341033]|not provided [RCV001691961] |
Chr2:48687337 [GRCh38]
Chr2:48914476 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.610C>T (p.Leu204=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000368668]|Hypergonadotropic hypogonadism [RCV000332756]|Leydig cell agenesis [RCV000274137]|not provided [RCV000903367] |
Chr2:48709018 [GRCh38]
Chr2:48936157 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.*535G>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000316704]|Hypergonadotropic hypogonadism [RCV000355177]|Leydig cell agenesis [RCV000274479] |
Chr2:48687162 [GRCh38]
Chr2:48914301 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000326723]|Hypergonadotropic hypogonadism [RCV000365999]|LHCGR-related condition [RCV003912417]|Leydig cell agenesis [RCV000271704]|not provided [RCV000902643]|not specified [RCV001821016] |
Chr2:48725722 [GRCh38]
Chr2:48952861 [GRCh37]
Chr2:2p16.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000233.4(LHCGR):c.1065T>C (p.Asp355=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000334166]|Hypergonadotropic hypogonadism [RCV000260201]|Leydig cell agenesis [RCV000388700]|not provided [RCV001651119]|not specified [RCV000249750] |
Chr2:48688732 [GRCh38]
Chr2:48915871 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000345770]|Hypergonadotropic hypogonadism [RCV000290924]|Leydig cell agenesis [RCV000399694]|not provided [RCV001594888]|not specified [RCV000247916] |
Chr2:48694236 [GRCh38]
Chr2:48921375 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.866+8G>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000302553]|Hypergonadotropic hypogonadism [RCV000357135]|Leydig cell agenesis [RCV000262221]|not provided [RCV001537570]|not specified [RCV000243145] |
Chr2:48698607 [GRCh38]
Chr2:48925746 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000303447]|Hypergonadotropic hypogonadism [RCV000267125]|Leydig cell agenesis [RCV000358276]|Leydig cell agenesis [RCV002488722]|not provided [RCV001569958] |
Chr2:48688128 [GRCh38]
Chr2:48915267 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.*577T>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000277958]|Hypergonadotropic hypogonadism [RCV000313054]|Leydig cell agenesis [RCV000370166] |
Chr2:48687120 [GRCh38]
Chr2:48914259 [GRCh37]
Chr2:2p16.3 |
likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.384-15T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000400664]|Hypergonadotropic hypogonadism [RCV000336007]|Leydig cell agenesis [RCV000314955] |
Chr2:48723711 [GRCh38]
Chr2:48950850 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.*528T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000384060]|Hypergonadotropic hypogonadism [RCV000289681]|Leydig cell agenesis [RCV000329529]|not provided [RCV001712067] |
Chr2:48687169 [GRCh38]
Chr2:48914308 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.606-5C>T |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000327580]|Hypergonadotropic hypogonadism [RCV000287821]|LHCGR-related condition [RCV003922457]|Leydig cell agenesis [RCV000382152]|not provided [RCV000888644] |
Chr2:48709027 [GRCh38]
Chr2:48936166 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.1875A>T (p.Ile625=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000306832]|Hypergonadotropic hypogonadism [RCV000391059]|Leydig cell agenesis [RCV000361800]|not provided [RCV000910811] |
Chr2:48687922 [GRCh38]
Chr2:48915061 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000385273]|Hypergonadotropic hypogonadism [RCV000348259]|Leydig cell agenesis [RCV000293373]|not provided [RCV000967950] |
Chr2:48688787 [GRCh38]
Chr2:48915926 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_001198593.2(STON1-GTF2A1L):c.3442-20551C>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000401707]|Hypergonadotropic hypogonadism [RCV000348327]|Leydig cell agenesis [RCV000295770]|not provided [RCV001711952] |
Chr2:48755729 [GRCh38]
Chr2:48982868 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.2002A>C (p.Thr668Pro) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000401796]|Hypergonadotropic hypogonadism [RCV000346658]|Leydig cell agenesis [RCV000310469] |
Chr2:48687795 [GRCh38]
Chr2:48914934 [GRCh37]
Chr2:2p16.3 |
likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.*7C>T |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000350978]|Hypergonadotropic hypogonadism [RCV000295974]|Leydig cell agenesis [RCV000371791] |
Chr2:48687690 [GRCh38]
Chr2:48914829 [GRCh37]
Chr2:2p16.3 |
benign|likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.378A>C (p.Lys126Asn) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000369440]|Hypergonadotropic hypogonadism [RCV000311287]|Leydig cell agenesis [RCV000407784] |
Chr2:48725681 [GRCh38]
Chr2:48952820 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.*300T>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000408432]|Hypergonadotropic hypogonadism [RCV000337425]|Leydig cell agenesis [RCV000297700] |
Chr2:48687397 [GRCh38]
Chr2:48914536 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.*281del |
deletion |
Gonadotropin-independent familial sexual precocity [RCV000312867]|Hypergonadotropic hypogonadism [RCV000408420]|Leydig cell agenesis [RCV000371037] |
Chr2:48687416 [GRCh38]
Chr2:48914555 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.*273T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000272489]|Hypergonadotropic hypogonadism [RCV000327667]|Leydig cell agenesis [RCV000367136] |
Chr2:48687424 [GRCh38]
Chr2:48914563 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000353480]|Hypergonadotropic hypogonadism [RCV000298657]|Leydig cell agenesis [RCV000277711] |
Chr2:48698670 [GRCh38]
Chr2:48925809 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) |
duplication |
Gonadotropin-independent familial sexual precocity [RCV000378063]|Hypergonadotropic hypogonadism [RCV000283585]|Leydig cell agenesis [RCV000319880]|Luteinizing hormone/choriogonadotropin receptor, lq variant [RCV002270219]|not provided [RCV002057704]|not specified [RCV000303287] |
Chr2:48755616..48755617 [GRCh38]
Chr2:48982755..48982756 [GRCh37]
Chr2:2p16.3 |
pathogenic|benign |
| NM_000233.4(LHCGR):c.*724T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV000366577]|Hypergonadotropic hypogonadism [RCV000392953]|Leydig cell agenesis [RCV000309530] |
Chr2:48686973 [GRCh38]
Chr2:48914112 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.580T>G (p.Phe194Val) |
single nucleotide variant |
Pseudohermaphroditism [RCV000583426] |
Chr2:48714011 [GRCh38]
Chr2:48941150 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.132C>T (p.Cys44=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001138420]|Leydig cell agenesis [RCV001138421] |
Chr2:48755540 [GRCh38]
Chr2:48982679 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 |
copy number gain |
See cases [RCV000454271] |
Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1 |
pathogenic |
| GRCh37/hg19 2p16.3(chr2:48500265-49197158)x1 |
copy number loss |
See cases [RCV000447959] |
Chr2:48500265..49197158 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.383+2T>C |
single nucleotide variant |
not provided [RCV000480873] |
Chr2:48725674 [GRCh38]
Chr2:48952813 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1471T>C (p.Trp491Arg) |
single nucleotide variant |
not provided [RCV000484363] |
Chr2:48688326 [GRCh38]
Chr2:48915465 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.517A>T (p.Asn173Tyr) |
single nucleotide variant |
not provided [RCV000481447] |
Chr2:48723475 [GRCh38]
Chr2:48950614 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000233.4(LHCGR):c.2091A>T (p.Thr697=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001137783]|Leydig cell agenesis [RCV001137784]|not specified [RCV000499711] |
Chr2:48687706 [GRCh38]
Chr2:48914845 [GRCh37]
Chr2:2p16.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) |
single nucleotide variant |
not provided [RCV000597109] |
Chr2:48688000 [GRCh38]
Chr2:48915139 [GRCh37]
Chr2:2p16.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1 |
copy number loss |
See cases [RCV000512533] |
Chr2:47361260..54934153 [GRCh37]
Chr2:2p21-16.2 |
pathogenic |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 |
copy number gain |
not provided [RCV000682169] |
Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1 |
pathogenic |
| GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 |
copy number gain |
not provided [RCV000752875] |
Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3 |
pathogenic |
| GRCh37/hg19 2p16.3(chr2:48732944-49827891)x3 |
copy number gain |
not provided [RCV000752947] |
Chr2:48732944..49827891 [GRCh37]
Chr2:2p16.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p16.3(chr2:48935392-49129890)x1 |
copy number loss |
not provided [RCV000740417] |
Chr2:48935392..49129890 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.162-189T>C |
single nucleotide variant |
not provided [RCV001669336] |
Chr2:48731487 [GRCh38]
Chr2:48958626 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.536+1888T>G |
single nucleotide variant |
not provided [RCV001691156] |
Chr2:48721568 [GRCh38]
Chr2:48948707 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.264G>A (p.Arg88=) |
single nucleotide variant |
not provided [RCV000918241] |
Chr2:48729197 [GRCh38]
Chr2:48956336 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.1322C>T (p.Thr441Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003267277] |
Chr2:48688475 [GRCh38]
Chr2:48915614 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.161+292C>T |
single nucleotide variant |
not provided [RCV001665878] |
Chr2:48755219 [GRCh38]
Chr2:48982358 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.605+46T>C |
single nucleotide variant |
not provided [RCV001725703] |
Chr2:48713940 [GRCh38]
Chr2:48941079 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140025]|Leydig cell agenesis [RCV001140026]|not provided [RCV000884474] |
Chr2:48687844 [GRCh38]
Chr2:48914983 [GRCh37]
Chr2:2p16.3 |
benign|uncertain significance |
| NM_000233.4(LHCGR):c.605+9T>G |
single nucleotide variant |
not provided [RCV000926954] |
Chr2:48713977 [GRCh38]
Chr2:48941116 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.1971A>G (p.Ser657=) |
single nucleotide variant |
not provided [RCV000922132] |
Chr2:48687826 [GRCh38]
Chr2:48914965 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter) |
single nucleotide variant |
Leydig cell agenesis [RCV000768371] |
Chr2:48723638 [GRCh38]
Chr2:48950777 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.680+9A>G |
single nucleotide variant |
not provided [RCV000895755]|not specified [RCV001818707] |
Chr2:48708939 [GRCh38]
Chr2:48936078 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg) |
single nucleotide variant |
not provided [RCV000882817] |
Chr2:48688628 [GRCh38]
Chr2:48915767 [GRCh37]
Chr2:2p16.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000233.4(LHCGR):c.561A>G (p.Glu187=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140897]|Leydig cell agenesis [RCV001140896]|not provided [RCV000881798]|not specified [RCV003151174] |
Chr2:48714030 [GRCh38]
Chr2:48941169 [GRCh37]
Chr2:2p16.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2p16.3(chr2:48874796-48958998)x1 |
copy number loss |
not provided [RCV001005256] |
Chr2:48874796..48958998 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.*553A>T |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001137664]|Leydig cell agenesis [RCV001137665] |
Chr2:48687144 [GRCh38]
Chr2:48914283 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.161+9A>G |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001138004]|LHCGR-related condition [RCV003973098]|Leydig cell agenesis [RCV001138005]|not provided [RCV002558305]|not specified [RCV001819843] |
Chr2:48755502 [GRCh38]
Chr2:48982641 [GRCh37]
Chr2:2p16.3 |
benign|likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.1723A>C (p.Ile575Leu) |
single nucleotide variant |
not provided [RCV000992274] |
Chr2:48688074 [GRCh38]
Chr2:48915213 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.-32C>G |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001138423]|Leydig cell agenesis [RCV001138422] |
Chr2:48755703 [GRCh38]
Chr2:48982842 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.2095T>A (p.Cys699Ser) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001137782]|Leydig cell agenesis [RCV001137781] |
Chr2:48687702 [GRCh38]
Chr2:48914841 [GRCh37]
Chr2:2p16.3 |
likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.*710A>G |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001142417]|Leydig cell agenesis [RCV001142418] |
Chr2:48686987 [GRCh38]
Chr2:48914126 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1308G>A (p.Gly436=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001142636]|Leydig cell agenesis [RCV001142637] |
Chr2:48688489 [GRCh38]
Chr2:48915628 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1375G>A (p.Val459Ile) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140783]|Leydig cell agenesis [RCV001140782] |
Chr2:48688422 [GRCh38]
Chr2:48915561 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.*22T>G |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001137779]|Leydig cell agenesis [RCV001137780] |
Chr2:48687675 [GRCh38]
Chr2:48914814 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NC_000002.11:g.(?_48914836)_(50850773_?)dup |
duplication |
Pitt-Hopkins-like syndrome 2 [RCV003105507] |
Chr2:48914836..50850773 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.118G>T (p.Gly40Cys) |
single nucleotide variant |
Leydig cell agenesis [RCV003234828] |
Chr2:48755554 [GRCh38]
Chr2:48982693 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.383+114G>C |
single nucleotide variant |
not provided [RCV001641998] |
Chr2:48725562 [GRCh38]
Chr2:48952701 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.606-268G>A |
single nucleotide variant |
not provided [RCV001570862] |
Chr2:48709290 [GRCh38]
Chr2:48936429 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.289C>T (p.Leu97Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003292038] |
Chr2:48729172 [GRCh38]
Chr2:48956311 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.681-193A>G |
single nucleotide variant |
not provided [RCV001683959] |
Chr2:48698993 [GRCh38]
Chr2:48926132 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.680+238G>C |
single nucleotide variant |
not provided [RCV001652683] |
Chr2:48708710 [GRCh38]
Chr2:48935849 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.233+75A>T |
single nucleotide variant |
not provided [RCV001658552] |
Chr2:48731152 [GRCh38]
Chr2:48958291 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.162-158T>C |
single nucleotide variant |
not provided [RCV001651387] |
Chr2:48731456 [GRCh38]
Chr2:48958595 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.309-55T>C |
single nucleotide variant |
not provided [RCV001555203] |
Chr2:48725805 [GRCh38]
Chr2:48952944 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.162-210G>A |
single nucleotide variant |
not provided [RCV001598787] |
Chr2:48731508 [GRCh38]
Chr2:48958647 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.234-146T>C |
single nucleotide variant |
not provided [RCV001684759] |
Chr2:48729373 [GRCh38]
Chr2:48956512 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.681-48del |
deletion |
not provided [RCV001707350] |
Chr2:48698848 [GRCh38]
Chr2:48925987 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.866+63G>C |
single nucleotide variant |
not provided [RCV001696568] |
Chr2:48698552 [GRCh38]
Chr2:48925691 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.383+191C>T |
single nucleotide variant |
not provided [RCV001676370] |
Chr2:48725485 [GRCh38]
Chr2:48952624 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.161+165A>G |
single nucleotide variant |
not provided [RCV001651767] |
Chr2:48755346 [GRCh38]
Chr2:48982485 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.948-113G>A |
single nucleotide variant |
not provided [RCV001639903] |
Chr2:48688962 [GRCh38]
Chr2:48916101 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.207C>T (p.Phe69=) |
single nucleotide variant |
not provided [RCV000914585] |
Chr2:48731253 [GRCh38]
Chr2:48958392 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140895]|Leydig cell agenesis [RCV001140894]|not provided [RCV000908943]|not specified [RCV001818810] |
Chr2:48709006 [GRCh38]
Chr2:48936145 [GRCh37]
Chr2:2p16.3 |
benign|likely benign |
| NM_000233.4(LHCGR):c.681-6G>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140142]|Leydig cell agenesis [RCV001140143] |
Chr2:48698806 [GRCh38]
Chr2:48925945 [GRCh37]
Chr2:2p16.3 |
benign|uncertain significance |
| NM_000233.4(LHCGR):c.1752T>C (p.Pro584=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140780]|Leydig cell agenesis [RCV001140781] |
Chr2:48688045 [GRCh38]
Chr2:48915184 [GRCh37]
Chr2:2p16.3 |
likely benign|uncertain significance |
| NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys) |
single nucleotide variant |
LHCGR-related condition [RCV003983302]|not provided [RCV000955920] |
Chr2:48714023 [GRCh38]
Chr2:48941162 [GRCh37]
Chr2:2p16.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000233.4(LHCGR):c.606-298T>C |
single nucleotide variant |
not provided [RCV001621386] |
Chr2:48709320 [GRCh38]
Chr2:48936459 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.867-176A>C |
single nucleotide variant |
not provided [RCV001665389] |
Chr2:48694480 [GRCh38]
Chr2:48921619 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.681-243C>G |
single nucleotide variant |
not provided [RCV001621505] |
Chr2:48699043 [GRCh38]
Chr2:48926182 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.383+241G>A |
single nucleotide variant |
not provided [RCV001660882] |
Chr2:48725435 [GRCh38]
Chr2:48952574 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.537-235G>A |
single nucleotide variant |
not provided [RCV001595878] |
Chr2:48714289 [GRCh38]
Chr2:48941428 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.161+28G>C |
single nucleotide variant |
not provided [RCV001688279] |
Chr2:48755483 [GRCh38]
Chr2:48982622 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.680+157A>G |
single nucleotide variant |
not provided [RCV001661170] |
Chr2:48708791 [GRCh38]
Chr2:48935930 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.234-109G>A |
single nucleotide variant |
not provided [RCV001616993] |
Chr2:48729336 [GRCh38]
Chr2:48956475 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.866+25C>T |
single nucleotide variant |
not provided [RCV001596349] |
Chr2:48698590 [GRCh38]
Chr2:48925729 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.*747C>A |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001142415]|Leydig cell agenesis [RCV001142416] |
Chr2:48686950 [GRCh38]
Chr2:48914089 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.*805A>G |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001142413]|Leydig cell agenesis [RCV001142414] |
Chr2:48686892 [GRCh38]
Chr2:48914031 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.947+4_947+7del |
deletion |
Gonadotropin-independent familial sexual precocity [RCV001198285]|Leydig cell agenesis [RCV001027712] |
Chr2:48694217..48694220 [GRCh38]
Chr2:48921356..48921359 [GRCh37]
Chr2:2p16.3 |
likely pathogenic|uncertain significance |
| NM_000233.4(LHCGR):c.233+1G>A |
single nucleotide variant |
Leydig cell agenesis [RCV001027713] |
Chr2:48731226 [GRCh38]
Chr2:48958365 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.*443C>T |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001139887]|Leydig cell agenesis [RCV001139886] |
Chr2:48687254 [GRCh38]
Chr2:48914393 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001138000]|Leydig cell agenesis [RCV001138001] |
Chr2:48725688 [GRCh38]
Chr2:48952827 [GRCh37]
Chr2:2p16.3 |
benign|uncertain significance |
| NM_000233.4(LHCGR):c.*894G>T |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140559]|Leydig cell agenesis [RCV001140560] |
Chr2:48686803 [GRCh38]
Chr2:48913942 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.*512C>T |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001139884]|Leydig cell agenesis [RCV001139885] |
Chr2:48687185 [GRCh38]
Chr2:48914324 [GRCh37]
Chr2:2p16.3 |
benign|uncertain significance |
| NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140024]|Leydig cell agenesis [RCV001140023] |
Chr2:48687725 [GRCh38]
Chr2:48914864 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.680+81C>T |
single nucleotide variant |
not provided [RCV001714601] |
Chr2:48708867 [GRCh38]
Chr2:48936006 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.234-65A>T |
single nucleotide variant |
not provided [RCV001713470] |
Chr2:48729292 [GRCh38]
Chr2:48956431 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.234-51G>A |
single nucleotide variant |
not provided [RCV001713469] |
Chr2:48729278 [GRCh38]
Chr2:48956417 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.947+195dup |
duplication |
not provided [RCV001645372] |
Chr2:48694022..48694023 [GRCh38]
Chr2:48921161..48921162 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.*192T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001142543]|Leydig cell agenesis [RCV001142542] |
Chr2:48687505 [GRCh38]
Chr2:48914644 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.*182T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001142545]|Leydig cell agenesis [RCV001142544] |
Chr2:48687515 [GRCh38]
Chr2:48914654 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.348C>T (p.Pro116=) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001138003]|Leydig cell agenesis [RCV001138002] |
Chr2:48725711 [GRCh38]
Chr2:48952850 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001140141]|Leydig cell agenesis [RCV001140140]|not provided [RCV002556981] |
Chr2:48698774 [GRCh38]
Chr2:48925913 [GRCh37]
Chr2:2p16.3 |
benign|uncertain significance |
| NM_000233.4(LHCGR):c.*414T>C |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001139889]|Leydig cell agenesis [RCV001139888] |
Chr2:48687283 [GRCh38]
Chr2:48914422 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh37/hg19 2p16.3(chr2:48834553-49818310)x3 |
copy number gain |
not provided [RCV001258517] |
Chr2:48834553..49818310 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.537-1G>T |
single nucleotide variant |
Leydig cell agenesis [RCV001291522] |
Chr2:48714055 [GRCh38]
Chr2:48941194 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.536+3G>C |
single nucleotide variant |
Leydig cell agenesis [RCV001449851] |
Chr2:48723453 [GRCh38]
Chr2:48950592 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NC_000002.11:g.(?_47672677)_(51259192_?)dup |
duplication |
Pitt-Hopkins-like syndrome 2 [RCV001345333] |
Chr2:47672677..51259192 [GRCh37]
Chr2:2p21-16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1573C>T (p.Gln525Ter) |
single nucleotide variant |
Gonadotropin-independent familial sexual precocity [RCV001542523] |
Chr2:48688224 [GRCh38]
Chr2:48915363 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.*53dup |
duplication |
not provided [RCV001549529] |
Chr2:48687643..48687644 [GRCh38]
Chr2:48914782..48914783 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.680+238= |
single nucleotide variant |
not provided [RCV001695092] |
Chr2:48708710 [GRCh38]
Chr2:48935849 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.383+166C>T |
single nucleotide variant |
not provided [RCV001713289] |
Chr2:48725510 [GRCh38]
Chr2:48952649 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_001198593.2(STON1-GTF2A1L):c.3442-20197T>G |
single nucleotide variant |
not provided [RCV001687872] |
Chr2:48756083 [GRCh38]
Chr2:48983222 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.162-250C>A |
single nucleotide variant |
not provided [RCV001617079] |
Chr2:48731548 [GRCh38]
Chr2:48958687 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.757T>C (p.Ser253Pro) |
single nucleotide variant |
46,XY disorder of sex development [RCV003126301] |
Chr2:48698724 [GRCh38]
Chr2:48925863 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1150C>A (p.Leu384Ile) |
single nucleotide variant |
not provided [RCV001772757] |
Chr2:48688647 [GRCh38]
Chr2:48915786 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.866A>G (p.Glu289Gly) |
single nucleotide variant |
not provided [RCV001751908] |
Chr2:48698615 [GRCh38]
Chr2:48925754 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.35_36insCA (p.Lys12fs) |
insertion |
not provided [RCV001817636] |
Chr2:48755636..48755637 [GRCh38]
Chr2:48982775..48982776 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1787T>G (p.Val596Gly) |
single nucleotide variant |
not specified [RCV001819528] |
Chr2:48688010 [GRCh38]
Chr2:48915149 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.353C>T (p.Ala118Val) |
single nucleotide variant |
Leydig cell agenesis [RCV001823541] |
Chr2:48725706 [GRCh38]
Chr2:48952845 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh37/hg19 2p16.3(chr2:48770520-49478424)x3 |
copy number gain |
not provided [RCV001829163] |
Chr2:48770520..49478424 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NC_000002.11:g.(?_48018046)_(50170949_?)dup |
duplication |
Pitt-Hopkins-like syndrome 2 [RCV001893873]|not provided [RCV001893874] |
Chr2:48018046..50170949 [GRCh37]
Chr2:2p16.3 |
uncertain significance|no classifications from unflagged records |
| NM_000233.4(LHCGR):c.1510G>A (p.Gly504Ser) |
single nucleotide variant |
not provided [RCV001871224] |
Chr2:48688287 [GRCh38]
Chr2:48915426 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1691A>T (p.Asp564Val) |
single nucleotide variant |
not provided [RCV001949425] |
Chr2:48688106 [GRCh38]
Chr2:48915245 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.26_43dup (p.Gln9_Leu14dup) |
duplication |
Leydig cell agenesis [RCV002484443]|not provided [RCV001909576] |
Chr2:48755628..48755629 [GRCh38]
Chr2:48982767..48982768 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.34_51del (p.Lys12_Leu17del) |
deletion |
not provided [RCV001897838] |
Chr2:48755621..48755638 [GRCh38]
Chr2:48982760..48982777 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1713G>T (p.Met571Ile) |
single nucleotide variant |
not provided [RCV001886947] |
Chr2:48688084 [GRCh38]
Chr2:48915223 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1868A>C (p.Tyr623Ser) |
single nucleotide variant |
not provided [RCV002011029] |
Chr2:48687929 [GRCh38]
Chr2:48915068 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1097T>C (p.Ile366Thr) |
single nucleotide variant |
not provided [RCV001875293] |
Chr2:48688700 [GRCh38]
Chr2:48915839 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1345G>A (p.Ala449Thr) |
single nucleotide variant |
not provided [RCV001955591] |
Chr2:48688452 [GRCh38]
Chr2:48915591 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.671C>T (p.Pro224Leu) |
single nucleotide variant |
not provided [RCV002223569] |
Chr2:48708957 [GRCh38]
Chr2:48936096 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1590C>A (p.Thr530=) |
single nucleotide variant |
not provided [RCV002106977] |
Chr2:48688207 [GRCh38]
Chr2:48915346 [GRCh37]
Chr2:2p16.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_000233.4(LHCGR):c.47T>A (p.Leu16Gln) |
single nucleotide variant |
46,XY sex reversal 11 [RCV002227395] |
Chr2:48755625 [GRCh38]
Chr2:48982764 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| GRCh37/hg19 2p16.3(chr2:48785431-49478424)x3 |
copy number gain |
not provided [RCV002475013] |
Chr2:48785431..49478424 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1095G>T (p.Leu365=) |
single nucleotide variant |
not provided [RCV002726874] |
Chr2:48688702 [GRCh38]
Chr2:48915841 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.1025G>A (p.Arg342Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002728478] |
Chr2:48688772 [GRCh38]
Chr2:48915911 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.1936C>T (p.Arg646Cys) |
single nucleotide variant |
not provided [RCV002970999] |
Chr2:48687861 [GRCh38]
Chr2:48915000 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1178T>G (p.Val393Gly) |
single nucleotide variant |
not provided [RCV002816069] |
Chr2:48688619 [GRCh38]
Chr2:48915758 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.1095G>A (p.Leu365=) |
single nucleotide variant |
not provided [RCV002996951] |
Chr2:48688702 [GRCh38]
Chr2:48915841 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.196T>C (p.Ser66Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002779501] |
Chr2:48731264 [GRCh38]
Chr2:48958403 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.590C>T (p.Thr197Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002886872] |
Chr2:48714001 [GRCh38]
Chr2:48941140 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.233+14T>C |
single nucleotide variant |
not provided [RCV002639031] |
Chr2:48731213 [GRCh38]
Chr2:48958352 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.724C>G (p.Leu242Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002869213] |
Chr2:48698757 [GRCh38]
Chr2:48925896 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.309-20T>G |
single nucleotide variant |
not provided [RCV002949164] |
Chr2:48725770 [GRCh38]
Chr2:48952909 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.161+8C>T |
single nucleotide variant |
not provided [RCV002952819] |
Chr2:48755503 [GRCh38]
Chr2:48982642 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.1031C>A (p.Ala344Asp) |
single nucleotide variant |
not provided [RCV002706642] |
Chr2:48688766 [GRCh38]
Chr2:48915905 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1183C>T (p.Arg395Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002884572] |
Chr2:48688614 [GRCh38]
Chr2:48915753 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.249T>G (p.Ile83Met) |
single nucleotide variant |
not provided [RCV002867143] |
Chr2:48729212 [GRCh38]
Chr2:48956351 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.309-17T>C |
single nucleotide variant |
not provided [RCV002596670] |
Chr2:48725767 [GRCh38]
Chr2:48952906 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.562G>T (p.Glu188Ter) |
single nucleotide variant |
not provided [RCV002664238] |
Chr2:48714029 [GRCh38]
Chr2:48941168 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1435C>T (p.Arg479Ter) |
single nucleotide variant |
not provided [RCV002651469] |
Chr2:48688362 [GRCh38]
Chr2:48915501 [GRCh37]
Chr2:2p16.3 |
pathogenic |
| NM_000233.4(LHCGR):c.1805C>T (p.Thr602Ile) |
single nucleotide variant |
not provided [RCV002857069] |
Chr2:48687992 [GRCh38]
Chr2:48915131 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.383+15T>C |
single nucleotide variant |
not provided [RCV002600646] |
Chr2:48725661 [GRCh38]
Chr2:48952800 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.491T>C (p.Ile164Thr) |
single nucleotide variant |
not provided [RCV002899344] |
Chr2:48723501 [GRCh38]
Chr2:48950640 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1139T>C (p.Val380Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002668695] |
Chr2:48688658 [GRCh38]
Chr2:48915797 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1466G>T (p.Gly489Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002748483] |
Chr2:48688331 [GRCh38]
Chr2:48915470 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.746T>C (p.Ile249Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002674242] |
Chr2:48698735 [GRCh38]
Chr2:48925874 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.2065G>A (p.Ala689Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002657049] |
Chr2:48687732 [GRCh38]
Chr2:48914871 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1224G>A (p.Met408Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002585937]|not provided [RCV002585936] |
Chr2:48688573 [GRCh38]
Chr2:48915712 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.114C>G (p.Pro38=) |
single nucleotide variant |
not provided [RCV003072932] |
Chr2:48755558 [GRCh38]
Chr2:48982697 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.1916G>A (p.Ser639Asn) |
single nucleotide variant |
not provided [RCV002588202] |
Chr2:48687881 [GRCh38]
Chr2:48915020 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.993T>A (p.Tyr331Ter) |
single nucleotide variant |
Leydig cell agenesis [RCV003142542] |
Chr2:48688804 [GRCh38]
Chr2:48915943 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.1864C>A (p.Leu622Met) |
single nucleotide variant |
Leydig cell agenesis [RCV003225808] |
Chr2:48687933 [GRCh38]
Chr2:48915072 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.161+1G>A |
single nucleotide variant |
not provided [RCV003147001] |
Chr2:48755510 [GRCh38]
Chr2:48982649 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.1324G>A (p.Ala442Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003384639] |
Chr2:48688473 [GRCh38]
Chr2:48915612 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1819T>G (p.Leu607Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003385097] |
Chr2:48687978 [GRCh38]
Chr2:48915117 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.32T>C (p.Leu11Pro) |
single nucleotide variant |
LHCGR-related condition [RCV003408511] |
Chr2:48755640 [GRCh38]
Chr2:48982779 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.625C>T (p.His209Tyr) |
single nucleotide variant |
not provided [RCV003407220] |
Chr2:48709003 [GRCh38]
Chr2:48936142 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.29T>C (p.Leu10Pro) |
single nucleotide variant |
LHCGR-related condition [RCV003391556] |
Chr2:48755643 [GRCh38]
Chr2:48982782 [GRCh37]
Chr2:2p16.3 |
likely pathogenic |
| NM_000233.4(LHCGR):c.1023C>T (p.Pro341=) |
single nucleotide variant |
not provided [RCV003415567] |
Chr2:48688774 [GRCh38]
Chr2:48915913 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.947+968_947+970del |
microsatellite |
not provided [RCV003415568] |
Chr2:48693254..48693256 [GRCh38]
Chr2:48920393..48920395 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.38TGC[6] (p.Leu17_Gln18insLeu) |
microsatellite |
not provided [RCV003877361] |
Chr2:48755619..48755620 [GRCh38]
Chr2:48982758..48982759 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.458+17T>C |
single nucleotide variant |
not provided [RCV003877484] |
Chr2:48723605 [GRCh38]
Chr2:48950744 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.1202T>C (p.Leu401Pro) |
single nucleotide variant |
not provided [RCV003739721] |
Chr2:48688595 [GRCh38]
Chr2:48915734 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.469G>A (p.Asp157Asn) |
single nucleotide variant |
not provided [RCV003694624] |
Chr2:48723523 [GRCh38]
Chr2:48950662 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1526T>C (p.Met509Thr) |
single nucleotide variant |
not provided [RCV003739389] |
Chr2:48688271 [GRCh38]
Chr2:48915410 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1113T>C (p.Ile371=) |
single nucleotide variant |
not provided [RCV003548112] |
Chr2:48688684 [GRCh38]
Chr2:48915823 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.628C>T (p.Leu210=) |
single nucleotide variant |
not provided [RCV003724527] |
Chr2:48709000 [GRCh38]
Chr2:48936139 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.17C>T (p.Ser6Leu) |
single nucleotide variant |
not provided [RCV003851349] |
Chr2:48755655 [GRCh38]
Chr2:48982794 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.32_58dup (p.Pro19_Pro20insLeuLysLeuLeuLeuLeuLeuGlnPro) |
duplication |
not provided [RCV003845566] |
Chr2:48755613..48755614 [GRCh38]
Chr2:48982752..48982753 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1869T>C (p.Tyr623=) |
single nucleotide variant |
not provided [RCV003554377] |
Chr2:48687928 [GRCh38]
Chr2:48915067 [GRCh37]
Chr2:2p16.3 |
benign |
| NM_000233.4(LHCGR):c.832C>T (p.His278Tyr) |
single nucleotide variant |
not provided [RCV003704647] |
Chr2:48698649 [GRCh38]
Chr2:48925788 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| GRCh37/hg19 2p16.3(chr2:48738494-49500895)x3 |
copy number gain |
not specified [RCV003986390] |
Chr2:48738494..49500895 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.1374C>T (p.Thr458=) |
single nucleotide variant |
not provided [RCV003737218] |
Chr2:48688423 [GRCh38]
Chr2:48915562 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.458+7A>T |
single nucleotide variant |
not provided [RCV003823074] |
Chr2:48723615 [GRCh38]
Chr2:48950754 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.459-12T>C |
single nucleotide variant |
not provided [RCV003866742] |
Chr2:48723545 [GRCh38]
Chr2:48950684 [GRCh37]
Chr2:2p16.3 |
uncertain significance |
| NM_000233.4(LHCGR):c.605+8T>C |
single nucleotide variant |
LHCGR-related condition [RCV003894159] |
Chr2:48713978 [GRCh38]
Chr2:48941117 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.426G>A (p.Thr142=) |
single nucleotide variant |
LHCGR-related condition [RCV003977181] |
Chr2:48723654 [GRCh38]
Chr2:48950793 [GRCh37]
Chr2:2p16.3 |
likely benign |
| NM_000233.4(LHCGR):c.-6C>T |
single nucleotide variant |
STON1-GTF2A1L-related condition [RCV003933953] |
Chr2:48755677 [GRCh38]
Chr2:48982816 [GRCh37]
Chr2:2p16.3 |
likely benign |
