Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_178138.6(LHX3):c.*1063C>T | 8022 | LHX3 | Uncertain significance | 1564280053 | RCV001166552; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088108 | 139088108 | | | 9:g.139088108G>A | - | | |
NM_178138.6(LHX3):c.*1031A>G | 8022 | LHX3 | Uncertain significance | 569655668 | RCV000334275; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088140 | 139088140 | | | NC_000009.11:g.139088140T>C | ClinGen:CA10629532 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*956C>T | 8022 | LHX3 | Uncertain significance | 886063695 | RCV000408118; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088215 | 139088215 | | | NC_000009.11:g.139088215G>A | ClinGen:CA10629533 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*857C>T | 8022 | LHX3 | Uncertain significance | 886063696 | RCV000313493; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088314 | 139088314 | | | NC_000009.11:g.139088314G>A | ClinGen:CA10632948 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*825C>A | 8022 | LHX3 | Benign | 3739470 | RCV000368070; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088346 | 139088346 | | | NC_000009.11:g.139088346G>T | ClinGen:CA10626864 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*791G>A | 8022 | LHX3 | Likely benign | 12237402 | RCV000390822; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088380 | 139088380 | | | NC_000009.11:g.139088380C>T | ClinGen:CA10629534 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*790C>T | 8022 | LHX3 | Uncertain significance | 572411652 | RCV000310086; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088381 | 139088381 | | | NC_000009.11:g.139088381G>A | ClinGen:CA10633217 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*780C>T | 8022 | LHX3 | Uncertain significance | 4842130 | RCV001168296; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088391 | 139088391 | | | 9:g.139088391G>A | - | | |
NM_178138.6(LHX3):c.*773G>A | 8022 | LHX3 | Uncertain significance | 148781569 | RCV000364718; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088398 | 139088398 | | | NC_000009.11:g.139088398C>T | ClinGen:CA10626867 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*747C>G | 8022 | LHX3 | Likely benign | 146752425 | RCV001168297; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088424 | 139088424 | | | 9:g.139088424G>C | - | | |
NM_178138.6(LHX3):c.*719C>T | 8022 | LHX3 | Uncertain significance | 1831495385 | RCV001168298; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088452 | 139088452 | | | 9:g.139088452G>A | - | | |
NM_178138.6(LHX3):c.*715C>A | 8022 | LHX3 | Uncertain significance | 1831495471 | RCV001169027; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088456 | 139088456 | | | 9:g.139088456G>T | - | | |
NM_178138.6(LHX3):c.*692C>T | 8022 | LHX3 | Uncertain significance | 1831495899 | RCV001169028; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088479 | 139088479 | | | 9:g.139088479G>A | - | | |
NM_178138.6(LHX3):c.*638G>T | 8022 | LHX3 | Uncertain significance | 374699388 | RCV000270199; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088533 | 139088533 | | | NC_000009.11:g.139088533C>A | ClinGen:CA10632949 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*637T>C | 8022 | LHX3 | Uncertain significance | 191713062 | RCV001169029; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088534 | 139088534 | | | 9:g.139088534A>G | - | | |
NM_178138.6(LHX3):c.*582G>A | 8022 | LHX3 | Uncertain significance | 879304888 | RCV000325305; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088589 | 139088589 | | | NC_000009.11:g.139088589C>T | ClinGen:CA10626876 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*570C>A | 8022 | LHX3 | Uncertain significance | 1588623321 | RCV001169030; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088601 | 139088601 | | | 9:g.139088601G>T | - | | |
NM_178138.6(LHX3):c.*554C>T | 8022 | LHX3 | Uncertain significance | 886063697 | RCV000361374; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088617 | 139088617 | | | NC_000009.11:g.139088617G>A | ClinGen:CA10632953 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*518G>A | 8022 | LHX3 | Uncertain significance | 545939943 | RCV001169031; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088653 | 139088653 | | | 9:g.139088653C>T | - | | |
NM_178138.6(LHX3):c.*517C>T | 8022 | LHX3 | Uncertain significance | 369945393 | RCV001166128; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088654 | 139088654 | | | 9:g.139088654G>A | - | | |
NM_178138.6(LHX3):c.*501A>T | 8022 | LHX3 | Uncertain significance | 886063698 | RCV000266954; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088670 | 139088670 | | | NC_000009.11:g.139088670T>A | ClinGen:CA10632954 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*456G>A | 8022 | LHX3 | Uncertain significance | 150382420 | RCV001166129; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088715 | 139088715 | | | 9:g.139088715C>T | - | | |
NM_178138.6(LHX3):c.*437G>A | 8022 | LHX3 | Uncertain significance | 1013764402 | RCV001166130; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088734 | 139088734 | | | 9:g.139088734C>T | - | | |
NM_178138.6(LHX3):c.*409G>T | 8022 | LHX3 | Uncertain significance | 886063699 | RCV000322062; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088762 | 139088762 | | | NC_000009.11:g.139088762C>A | ClinGen:CA10629536 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*403T>C | 8022 | LHX3 | Uncertain significance | 919677270 | RCV001166131; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088768 | 139088768 | | | 9:g.139088768A>G | - | | |
NM_178138.6(LHX3):c.*357G>A | 8022 | LHX3 | Uncertain significance | 886063700 | RCV000376654; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088814 | 139088814 | | | NC_000009.11:g.139088814C>T | ClinGen:CA10626877 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*309C>T | 8022 | LHX3 | Uncertain significance | 1040969252 | RCV001166132; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088862 | 139088862 | | | 9:g.139088862G>A | - | | |
NM_178138.6(LHX3):c.*237G>A | 8022 | LHX3 | Uncertain significance | 1252042714 | RCV001166614; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088934 | 139088934 | | | 9:g.139088934C>T | - | | |
NM_178138.6(LHX3):c.*185T>A | 8022 | LHX3 | Benign | 144976921 | RCV000280927; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139088986 | 139088986 | | | NC_000009.11:g.139088986A>T | ClinGen:CA10626878 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*161C>A | 8022 | LHX3 | Uncertain significance | 886063701 | RCV000317332; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089010 | 139089010 | | | NC_000009.11:g.139089010G>T | ClinGen:CA10629539 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*140G>A | 8022 | LHX3 | Uncertain significance | 1181863841 | RCV001166615; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089031 | 139089031 | | | 9:g.139089031C>T | - | | |
NM_178138.6(LHX3):c.*55G>A | 8022 | LHX3 | Uncertain significance | 543364659 | RCV000296177; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089116 | 139089116 | | | NC_000009.11:g.139089116C>T | ClinGen:CA10633218 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*32G>A | 8022 | LHX3 | Uncertain significance | 771392788 | RCV000350909; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089139 | 139089139 | | | NC_000009.11:g.139089139C>T | ClinGen:CA5330227 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.*31C>G | 8022 | LHX3 | Uncertain significance | 776792156 | RCV001166616; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089140 | 139089140 | | | 9:g.139089140G>C | - | | |
NM_178138.6(LHX3):c.*9C>T | 8022 | LHX3 | Uncertain significance | 369623778 | RCV000390232; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089162 | 139089162 | | | NC_000009.11:g.139089162G>A | ClinGen:CA5330237 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.1092C>T (p.Asn364=) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 886063702 | RCV000292515|RCV001437445; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN517202 | 9 | 139089273 | 139089273 | | | NC_000009.11:g.139089273G>A | ClinGen:CA10629543 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.1092C>A (p.Asn364Lys) | 8022 | LHX3 | Uncertain significance | 886063702 | RCV001168364; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089273 | 139089273 | | | 9:g.139089273G>T | - | | |
NM_178138.6(LHX3):c.1024A>G (p.Thr342Ala) | 8022 | LHX3 | Uncertain significance | 1260618703 | RCV001168365; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089341 | 139089341 | | | 9:g.139089341T>C | - | | |
NM_178138.6(LHX3):c.1003T>C (p.Ser335Pro) | 8022 | LHX3 | Uncertain significance | -1 | RCV003134053; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089362 | 139089362 | | | NC_000009.11:g.139089362A>G | - | | |
NM_178138.6(LHX3):c.966C>T (p.Ala322=) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 551180434 | RCV001168366|RCV001439572; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900 | 9 | 139089399 | 139089399 | | | 9:g.139089399G>A | - | | |
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 201356862 | RCV000968854|RCV001168367; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089401 | 139089401 | | | 9:g.139089401C>T | ClinGen:CA5330282 | CN169374 not specified; | |
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 201591640 | RCV000179482|RCV000391104|RCV002516793|RCV003235100; | N | MedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 9 | 139089436 | 139089436 | | | 9:g.139089436C>G | ClinGen:CA246743 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 182345541 | RCV000302742|RCV000766051|RCV001273808; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494 | 9 | 139089445 | 139089445 | | | 9:g.139089445C>G | ClinGen:CA5330291 | CN169374 not specified; | |
NM_178138.6(LHX3):c.919C>A (p.Arg307=) | 8022 | LHX3 | Likely benign | 145867977 | RCV000982485|RCV001273809|RCV002503135; | N | MedGen:CN517202|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089446 | 139089446 | | | 9:g.139089446G>T | - | | |
NM_178138.6(LHX3):c.915G>A (p.Gln305=) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 548140963 | RCV000944364|RCV001273810|RCV001168368; | N | MedGen:C3661900|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089450 | 139089450 | | | 9:g.139089450C>T | - | | |
NM_178138.6(LHX3):c.860C>T (p.Ser287Leu) | 8022 | LHX3 | Uncertain significance | 748322395 | RCV000307500|RCV003362772; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MeSH:D030342,MedGen:C0950123 | 9 | 139089505 | 139089505 | | | NC_000009.11:g.139089505G>A | ClinGen:CA5330306 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.812G>A (p.Gly271Asp) | 8022 | LHX3 | Uncertain significance | 758724505 | RCV001169115|RCV002558678|RCV002558679; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 139089553 | 139089553 | | | 9:g.139089553C>T | - | | |
NM_178138.6(LHX3):c.804G>C (p.Pro268=) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 771201500 | RCV000941266|RCV001169116; | N | MedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139089561 | 139089561 | | | 9:g.139089561C>G | - | | |
NM_178138.6(LHX3):c.776-15C>A | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 376405589 | RCV000362167|RCV002058784; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN517202 | 9 | 139089604 | 139089604 | | | NC_000009.11:g.139089604G>T | ClinGen:CA5330342 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.776-90C>T | 8022 | LHX3 | Benign | 7860634 | RCV001544004|RCV001647394; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900 | 9 | 139089679 | 139089679 | | | 139089679 | - | | |
NM_178138.6(LHX3):c.80-530_776-454del | 8022 | LHX3 | Pathogenic | -1 | RCV000009594; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090043 | 139093129 | | | NC_000009.11:g.139090048_139093134del | ClinGen:CA250574,dbVar:nssv3761573,OMIM:600577.0008 | C3489787 221750 Pituitary hormone deficiency, combined 3; | |
NM_178138.6(LHX3):c.737A>G (p.Gln246Arg) | 8022 | LHX3 | Uncertain significance | 886063704 | RCV000391108; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090536 | 139090536 | | | NC_000009.11:g.139090536T>C | ClinGen:CA10633219 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.672G>A (p.Trp224Ter) | 8022 | LHX3 | Pathogenic | 137854505 | RCV000009593; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090601 | 139090601 | | | 9:g.139090601C>T | ClinGen:CA250572,OMIM:600577.0007 | C3489787 221750 Pituitary hormone deficiency, combined 3; | |
NM_178138.6(LHX3):c.607-3_630del | 8022 | LHX3 | Likely pathogenic | 969810391 | RCV001378438|RCV001826139; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090643 | 139090669 | | | 139090642 | - | | |
NM_178138.6(LHX3):c.629C>T (p.Ala210Val) | 8022 | LHX3 | Pathogenic | 137854503 | RCV000009590; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090644 | 139090644 | | | 9:g.139090644G>A | ClinGen:CA250570,UniProtKB:Q9UBR4#VAR_063240,OMIM:600577.0004 | C3489787 221750 Pituitary hormone deficiency, combined 3; | |
NM_178138.6(LHX3):c.622C>T (p.Arg208Cys) | 8022 | LHX3 | Uncertain significance | 1280467564 | RCV001169117; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090651 | 139090651 | | | 9:g.139090651G>A | - | | |
NM_178138.6(LHX3):c.597C>T (p.Arg199=) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 369145566 | RCV001458383|RCV001169118; | N | MedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090763 | 139090763 | | | 9:g.139090763G>A | - | | |
NM_178138.6(LHX3):c.582G>C (p.Thr194=) | 8022 | LHX3 | Likely benign | 759590430 | RCV000901149|RCV001830965; | N | MedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090778 | 139090778 | | | 9:g.139090778C>G | - | | |
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg) | 8022 | LHX3 | Likely pathogenic | 2131032901 | RCV001837058; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090779 | 139090779 | | | 139090779 | - | | |
NM_178138.6(LHX3):c.534C>T (p.Thr178=) | 8022 | LHX3 | Likely benign | 564712080 | RCV000921222|RCV001832079; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139090826 | 139090826 | | | 9:g.139090826G>A | - | | |
NM_178138.6(LHX3):c.454+64C>T | 8022 | LHX3 | Benign | 2274114 | RCV001544005|RCV001694073; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900 | 9 | 139091460 | 139091460 | | | 139091460 | - | | |
NM_178138.6(LHX3):c.452_454+20del | 8022 | LHX3 | Pathogenic | 587776711 | RCV000009588; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139091504 | 139091526 | | | NC_000009.11:g.139091506_139091528del | ClinGen:CA250568,OMIM:600577.0002 | | |
NM_178138.6(LHX3):c.454+3C>T | 8022 | LHX3 | Benign/Likely benign | 34356735 | RCV000304131|RCV000602280|RCV001274345|RCV001523724; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN169374|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MedGen:C3661900 | 9 | 139091521 | 139091521 | | | NC_000009.11:g.139091521G>A | ClinGen:CA5330499 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.441C>T (p.Thr147=) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 200521449 | RCV000358940|RCV000933477|RCV001271733; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN517202|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494 | 9 | 139091537 | 139091537 | | | NC_000009.11:g.139091537G>A | ClinGen:CA5330504 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.413G>T (p.Arg138Leu) | 8022 | LHX3 | Uncertain significance | 374047783 | RCV001166193; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139091565 | 139091565 | | | 9:g.139091565C>A | - | | |
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter) | 8022 | LHX3 | Pathogenic | -1 | RCV003152945; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139091624 | 139091624 | | | | - | | |
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys) | 8022 | LHX3 | Pathogenic | 104894117 | RCV000009587; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139091646 | 139091646 | | | 9:g.139091646T>C | ClinGen:CA250566,UniProtKB:Q9UBR4#VAR_010713,OMIM:600577.0001 | C3489787 221750 Pituitary hormone deficiency, combined 3; | |
NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs) | 8022 | LHX3 | Pathogenic | 137854504 | RCV000009591; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139091690 | 139091691 | | | 9:g.139091690_139091691insGGA | ClinGen:CA250571,OMIM:600577.0005 | C3489787 221750 Pituitary hormone deficiency, combined 3; | |
NM_178138.6(LHX3):c.280C>T (p.Gln94Ter) | 8022 | LHX3 | Likely pathogenic | 2131034777 | RCV001782383; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139091698 | 139091698 | | | 139091698 | - | | |
NM_178138.6(LHX3):c.252-4G>T | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 372058376 | RCV000603094|RCV000910483|RCV001166194; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139091730 | 139091730 | | | 9:g.139091730C>A | ClinGen:CA5330539 | CN169374 not specified; | |
NM_178138.6(LHX3):c.251+148T>C | 8022 | LHX3 | Benign | 1886296 | RCV001544006|RCV001709734; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900 | 9 | 139092280 | 139092280 | | | 139092280 | - | | |
NM_178138.6(LHX3):c.251+30G>A | 8022 | LHX3 | Benign | 75290716 | RCV001544007|RCV001707903; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900 | 9 | 139092398 | 139092398 | | | 139092398 | - | | |
NM_178138.6(LHX3):c.251+9C>T | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 569254423 | RCV000930862|RCV001274346|RCV001166195; | N | MedGen:C3661900|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092419 | 139092419 | | | 9:g.139092419G>A | - | | |
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter) | 8022 | LHX3 | Pathogenic | 774533927 | RCV001386141|RCV001831393; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092465 | 139092465 | | | 139092465 | - | | |
NM_178138.6(LHX3):c.198C>G (p.Ala66=) | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 190916587 | RCV000385783|RCV001166196; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092481 | 139092481 | | | 9:g.139092481G>C | ClinGen:CA5330590 | CN169374 not specified; | |
NM_178138.6(LHX3):c.145C>T (p.Arg49Cys) | 8022 | LHX3 | Uncertain significance | 781049722 | RCV000264184; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092534 | 139092534 | | | NC_000009.11:g.139092534G>A | ClinGen:CA5330597 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.133A>T (p.Lys45Ter) | 8022 | LHX3 | Pathogenic | 137854506 | RCV000009595; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092546 | 139092546 | | | 9:g.139092546T>A | ClinGen:CA250575,OMIM:600577.0009 | C3489787 221750 Pituitary hormone deficiency, combined 3; | |
NM_178138.6(LHX3):c.112A>G (p.Ile38Val) | 8022 | LHX3 | Uncertain significance | 1341469393 | RCV000723285; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092567 | 139092567 | | | NC_000009.11:g.139092567T>C | - | | |
NM_178138.6(LHX3):c.108G>A (p.Gln36=) | 8022 | LHX3 | Benign/Likely benign | 33998096 | RCV001166197|RCV001523725; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900 | 9 | 139092571 | 139092571 | | | 9:g.139092571C>T | ClinGen:CA5330600 | CN169374 not specified; | |
NM_178138.6(LHX3):c.96del (p.Gly33fs) | 8022 | LHX3 | Pathogenic | 587776712 | RCV000009589; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092583 | 139092583 | | | NC_000009.11:g.139092583del | ClinGen:CA250569,OMIM:600577.0003 | C3489787 221750 Pituitary hormone deficiency, combined 3; | |
NM_178138.6(LHX3):c.93_95dup (p.Ala32dup) | 8022 | LHX3 | Uncertain significance | 2131036367 | RCV001376122; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092583 | 139092584 | | | 139092583 | - | | |
NM_178138.6(LHX3):c.94G>A (p.Ala32Thr) | 8022 | LHX3 | Uncertain significance | 201187873 | RCV001548466|RCV001827456; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092585 | 139092585 | | | 139092585 | - | | |
NM_178138.6(LHX3):c.93C>T (p.Cys31=) | 8022 | LHX3 | Likely benign | 558712702 | RCV000929863|RCV001832111; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092586 | 139092586 | | | 9:g.139092586G>A | - | | |
NM_178138.6(LHX3):c.87G>A (p.Pro29=) | 8022 | LHX3 | Likely benign | 183980824 | RCV000975245|RCV001827063; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092592 | 139092592 | | | 9:g.139092592C>T | - | | |
NM_178138.6(LHX3):c.80-2A>G | 8022 | LHX3 | Pathogenic | 2131036410 | RCV001382375|RCV001826161; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092601 | 139092601 | | | 139092601 | - | | |
NM_178138.6(LHX3):c.80-10G>A | 8022 | LHX3 | Uncertain significance | 555766551 | RCV000354767|RCV002480025; | N | MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139092609 | 139092609 | | | 9:g.139092609C>T | ClinGen:CA5330608 | CN169374 not specified; | |
NM_178138.6(LHX3):c.79+2007T>C | 8022 | LHX3 | Benign | 2274115 | RCV000173439|RCV001543751|RCV001721101; | N | MedGen:CN169374|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900 | 9 | 139094773 | 139094773 | | | 9:g.139094773A>G | ClinGen:CA200531 | CN169374 not specified; | |
NM_178138.6(LHX3):c.79+1975G>A | 8022 | LHX3 | Benign | 2274116 | RCV000173438|RCV000319285|RCV001272769|RCV001521616; | N | MedGen:CN169374|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MedGen:C3661900 | 9 | 139094805 | 139094805 | | | 9:g.139094805C>T | ClinGen:CA200529 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.79+1967C>A | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 759584117 | RCV000356105|RCV002524592; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN517202 | 9 | 139094813 | 139094813 | | | NC_000009.11:g.139094813G>T | ClinGen:CA5330625 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.79+1935C>G | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 769912904 | RCV000880647|RCV001166692|RCV001274347; | N | MedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494 | 9 | 139094845 | 139094845 | | | 9:g.139094845G>C | - | | |
NM_178138.6(LHX3):c.79+1927G>A | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 1831682631 | RCV001166693|RCV002068021; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN517202 | 9 | 139094853 | 139094853 | | | 9:g.139094853C>T | - | | |
NM_178138.6(LHX3):c.79+1904C>T | 8022 | LHX3 | Uncertain significance | 1021046718 | RCV001166694|RCV001279531|RCV003163366; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MeSH:D030342,MedGen:C0950123 | 9 | 139094876 | 139094876 | | | 9:g.139094876G>A | - | | |
NM_178138.6(LHX3):c.79+1902C>T | 8022 | LHX3 | Conflicting interpretations of pathogenicity | 375579333 | RCV000766052|RCV000915896|RCV001274348|RCV003151004; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MedGen:CN169374 | 9 | 139094878 | 139094878 | | | 9:g.139094878G>A | ClinGen:CA5330627 | CN169374 not specified; | |
NM_178138.6(LHX3):c.79+1888G>A | 8022 | LHX3 | Uncertain significance | 1188545118 | RCV001166695; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139094892 | 139094892 | | | 9:g.139094892C>T | - | | |
NM_178138.6(LHX3):c.79+1862A>G | 8022 | LHX3 | Uncertain significance | 886063705 | RCV000261280; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139094918 | 139094918 | | | NC_000009.11:g.139094918T>C | ClinGen:CA10629558 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.79+1829G>A | 8022 | LHX3 | Uncertain significance | 551389075 | RCV000316576; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139094951 | 139094951 | | | NC_000009.11:g.139094951C>T | ClinGen:CA10633222 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.79+1814G>T | 8022 | LHX3 | Likely benign | 569646536 | RCV000389808; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139094966 | 139094966 | | | 9:g.139094966C>A | ClinGen:CA10626879 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |
NM_178138.6(LHX3):c.79+1813G>C | 8022 | LHX3 | Uncertain significance | 886063706 | RCV000276382; | N | MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720 | 9 | 139094967 | 139094967 | | | 9:g.139094967C>G | ClinGen:CA10629561 | CN239344 Combined Pituitary Hormone Deficiency, Recessive; | |