ClinVar Miner

List of variants reported as likely pathogenic for anterior pituitary gland disease by GeneReviews

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.2(AIP):c.174G>C (p.Lys58Asn) rs267606539
NM_003977.3(AIP):c.100-1025_279+357del1562
NM_003977.3(AIP):c.138_161del24 (p.Gly47_Arg54del) rs267606537
NM_003977.3(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.3(AIP):c.244_248delGAAGG (p.Glu82Glyfs) rs267606542
NM_003977.3(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.3(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.3(AIP):c.280-1G>A rs267606544
NM_003977.3(AIP):c.286_287delGT (p.Val96Profs) rs267606545
NM_003977.3(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.3(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.3(AIP):c.350delG (p.Gly117Alafs) rs267606549
NM_003977.3(AIP):c.3_4insC (p.Ala2Argfs) rs267606547
NM_003977.3(AIP):c.404delA (p.His135Leufs) rs267606551
NM_003977.3(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.3(AIP):c.468+1G>A rs267606554
NM_003977.3(AIP):c.469-1G>A rs267606555
NM_003977.3(AIP):c.469-2A>G rs267606556
NM_003977.3(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.3(AIP):c.500delC (p.Pro167Hisfs) rs267606557
NM_003977.3(AIP):c.517_521delGAAGA (p.Glu174Glyfs) rs267606558
NM_003977.3(AIP):c.542delT (p.Ile182Serfs) rs267606559
NM_003977.3(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.3(AIP):c.584T>C (p.Val195Ala) rs267606561
NM_003977.3(AIP):c.591G>A (p.Glu197=) rs202006716
NM_003977.3(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.3(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.3(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.3(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.3(AIP):c.662dupC (p.Glu222Terfs) rs104895075
NM_003977.3(AIP):c.66_71delAGGAGA (p.Gly23_Glu24del) rs267606567
NM_003977.3(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.3(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.3(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.3(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.3(AIP):c.742_744delTAC (p.Tyr248del) rs267606574
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.3(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.3(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.3(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.3(AIP):c.854_857delAGGC (p.Gln285Leufs) rs267606582
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.824dup (p.His275Glnfs) rs267606580
NM_003977.4(AIP):c.919dup (p.Arg307Profs) rs267606589

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