Total 176 pathogenic variants reported for Pfeiffer syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV
Germline
Chr10:121517378 Pathogenic/Likely pathogenic Crouzon syndrome
Pfeiffer syndrome
FGFR2-related craniosynostosis
11 conditions
Condition: not provided
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Craniosynostosis syndrome
11 conditions
Common craniosynostosis syndromes
Criteria Provided
Multiple Submitters
No Conflicts
CA280168 rs_121918487

19 SubmittersRCV000014173RCV000014174RCV000547490RCV000762801RCV001090933RCV001196204RCV001730471RCV004795406RCV006605188

NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) SNV
Germline
Chr10:121517379 Pathogenic Pfeiffer syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Crouzon syndrome
Jackson-Weiss syndrome
FGFR2-related craniosynostosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA256745 rs_121918488

10 SubmittersRCV000014178RCV000014180RCV000014177RCV000014179RCV000534888RCV001723565

NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) SNV
Germline
Chr10:121517379 Pathogenic Crouzon syndrome
Jackson-Weiss syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis
Criteria Provided
Multiple Submitters
No Conflicts
CA256746 rs_121918488

5 SubmittersRCV000014181RCV000014182RCV000014183RCV000415484RCV000490034RCV000655416

NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) SNV
Germline
Chr10:121517372 Pathogenic Crouzon syndrome
Jackson-Weiss syndrome
FGFR2-related craniosynostosis
Pfeiffer syndrome
FGFR2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA280171 rs_121918492

4 SubmittersRCV000014188RCV000014187RCV001851846RCV003313919RCV005249989

NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV
Germline
Chr10:121517363 Pathogenic/Likely pathogenic Crouzon syndrome
Condition: not provided
FGFR2-related craniosynostosis
22 conditions
Pfeiffer syndrome
Meier-Gorlin syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA280173 rs_121918494

9 SubmittersRCV000014190RCV000726654RCV000655421RCV000626619RCV001823713RCV004813038

NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV
Germline/somatic
Chr10:121520163 Pathogenic Acrocephalosyndactyly type I
Endometrial carcinoma
Condition: not provided
FGFR2-related craniosynostosis
11 conditions
FGFR2-related disorder
Pfeiffer syndrome
Inborn genetic diseases
Neoplasm
Liver cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA122985 rs_79184941

39 SubmittersRCV000014191RCV000014192RCV000263144RCV000552015RCV002476961RCV004532334RCV004527288RCV005841520RCV005229786RCV006253543

NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV
Germline
Chr10:121520160 Pathogenic/Likely pathogenic Acrocephalosyndactyly type I
Condition: not provided
FGFR2-related craniosynostosis
11 conditions
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
FGFR2-related disorder
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA280174 rs_77543610

22 SubmittersRCV000014193RCV000489611RCV000532721RCV000762803RCV001197223RCV004532335RCV005859461

NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) SNV
Germline
Chr10:121517382 Pathogenic Pfeiffer syndrome
FGFR2-related craniosynostosis
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA280176 rs_121918495

7 SubmittersRCV000014194RCV001037961RCV001781263

NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) SNV
Germline
Chr10:121520052 Pathogenic Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
FGFR2-related craniosynostosis
Condition: not provided
Inborn genetic diseases
FGFR2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA280178 rs_121918497

9 SubmittersRCV000014196RCV000014197RCV000415509RCV001217538RCV001572560RCV005831545RCV005867753

NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) SNV
Germline
Chr10:121520048 Pathogenic Pfeiffer syndrome
Aural atresia, congenital
Condition: not provided
FGFR2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA280182 rs_121918499

6 SubmittersRCV000014203RCV002254264RCV003150929RCV004532337

NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) SNV
Germline
Chr10:121517351 Pathogenic Pfeiffer syndrome type 3
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Condition: not provided
Pfeiffer syndrome
FGFR2-related craniosynostosis
Crouzon syndrome
FGFR2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA122991 rs_121918502

11 SubmittersRCV000014208RCV000014209RCV000256107RCV000415503RCV000528973RCV003313920RCV004737152

NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) SNV
Germline/somatic
Chr10:121520119 Pathogenic Pfeiffer syndrome
Crouzon syndrome
Condition: not provided
FGFR2-related craniosynostosis
Gastric cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA210548 rs_121918505

7 SubmittersRCV000014213RCV000408850RCV000435703RCV000690962RCV002508123

NM_000141.5(FGFR2):c.940-1G>A SNV
Germline
Chr10:121517464 Pathogenic Pfeiffer syndrome
FGFR2-related craniosynostosis
Criteria Provided
Single Submitter
CA10575517 rs_879253719

2 SubmittersRCV000014215RCV000694780

NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) SNV
Germline
Chr10:121520048 Pathogenic Pfeiffer syndrome
CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA
FGFR2-related craniosynostosis
Condition: not provided
11 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA122994 rs_121918499

10 SubmittersRCV000014217RCV000014218RCV000655418RCV001268882RCV002490362

NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) SNV
Germline
Chr10:121496701 Pathogenic/Likely pathogenic Pfeiffer syndrome
FGFR2-related craniosynostosis
Condition: not provided
FGFR2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA280192 rs_121918506

7 SubmittersRCV000014219RCV001851848RCV003441716RCV004532338

NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) SNV
Germline
Chr10:121498591 Pathogenic/Likely pathogenic Crouzon syndrome
Familial scaphocephaly syndrome, McGillivray type
Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis
Criteria Provided
Multiple Submitters
No Conflicts
CA122996 rs_121918507

4 SubmittersRCV000014220RCV000014221RCV003988821RCV004760330RCV005089251

NM_000141.5(FGFR2):c.1084+3A>G SNV
Germline
Chr10:121517316 Pathogenic Pfeiffer syndrome
Crouzon syndrome
FGFR2-related craniosynostosis
Acrocephalosyndactyly type I
Pfeiffer syndrome
Crouzon syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10575520 rs_879253721

5 SubmittersRCV000014225RCV000014226RCV001382547RCV001254178RCV002273930

NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) SNV
Germline
Chr10:121517441 Pathogenic Pfeiffer syndrome
FGFR2-related craniosynostosis
Criteria Provided
Multiple Submitters
No Conflicts
CA280195 rs_121918510

3 SubmittersRCV000014227RCV002513039

NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) SNV
Germline
Chr8:38424690 Pathogenic Pfeiffer syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
7 conditions
FGFR1-related disorder
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Multiple Submitters
No Conflicts
CA280217 rs_121909627

11 SubmittersRCV000017669RCV000017670RCV000644520RCV001200303RCV002496391RCV005229812RCV004798731

NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) SNV
Germline
Chr8:38414892 Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
Delayed puberty
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
See cases
Hypogonadotropic hypogonadism
Criteria Provided
Multiple Submitters
No Conflicts
CA185882 rs_121909628

8 SubmittersRCV000030926RCV000156953RCV000156954RCV000760399RCV002513084RCV004584329RCV005252688

NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) SNV
Germline
Chr8:38424546 Conflicting classifications of pathogenicity Trigonocephaly 1
Condition: not provided
not specified
7 conditions
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
Criteria Provided
Conflicting Classifications
CA126355 rs_121909633

14 SubmittersRCV000017681RCV000514891RCV000502492RCV000766015RCV001407682RCV004532374

NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) SNV
Germline
Chr8:38419676 Pathogenic/Likely pathogenic Osteoglophonic dysplasia
Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Multiple Submitters
No Conflicts
CA126356 rs_121909634

3 SubmittersRCV000017682RCV002254904RCV002514106

NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) SNV
Germline
Chr8:38418249 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA260621 rs_121909637

3 SubmittersRCV000030932RCV001851897

NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) SNV
Germline
Chr8:38415899 Pathogenic Hypogonadotropic hypogonadism 2 with anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA130219 rs_121909639

6 SubmittersRCV000030934RCV000500417RCV000478244RCV003764580

NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) SNV
Germline
Chr8:38424696 Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA260625 rs_121909645

3 SubmittersRCV000030940RCV002514107

NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) SNV
Germline
Chr8:38414166 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA045386 rs_267606806

2 SubmittersRCV001857786RCV003234553

NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) SNV
Germline
Chr8:38414263 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA143803 rs_397515445

3 SubmittersRCV000043590RCV003234544RCV003764717

NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys) SNV
Germline
Chr8:38414599 Pathogenic Hypogonadotropic hypogonadism 2 with anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA143804 rs_397515446

5 SubmittersRCV000043591RCV003234545RCV004739327RCV005222729RCV005831549

NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) SNV
Germline
Chr8:38414279 Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA185894 rs_727505376

7 SubmittersRCV000156967RCV001251086RCV001795280RCV005222785RCV004535018

NM_023110.3(FGFR1):c.1663+9C>T SNV
Germline
Chr8:38417297 Conflicting classifications of pathogenicity Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA239943 rs_557754125

2 SubmittersRCV000174406RCV001429514

NM_023110.3(FGFR1):c.1977+1G>A SNV
Germline
Chr8:38414778 Pathogenic/Likely pathogenic Semilobar holoprosencephaly
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
7 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA10581214 rs_876661334

10 SubmittersRCV000223775RCV000995547RCV001562405RCV003765451RCV004782316RCV005044464

NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) SNV
Germline
Chr10:121520085 Pathogenic Condition: not provided
Pfeiffer syndrome
FGFR2-related craniosynostosis
Crouzon syndrome
FGFR2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA5720987 rs_776587763

9 SubmittersRCV000255197RCV000415498RCV000557313RCV000844883RCV004737395

NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) SNV
Germline
Chr8:38429829 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718852 rs_561300213

3 SubmittersRCV000323081RCV002521956RCV005049516

NM_023110.3(FGFR1):c.615C>T (p.Gly205=) SNV
Germline
Chr8:38427927 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder
Criteria Provided
Conflicting Classifications
CA4718704 rs_781689191

4 SubmittersRCV000373182RCV002059223RCV004535389

NM_023110.3(FGFR1):c.2293-11G>A SNV
Germline
Chr8:38413815 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA10625389 rs_886062919

2 SubmittersRCV000295326RCV000294107RCV000333930RCV000385866RCV002058729

NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) SNV
Germline
Chr8:38428379 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Craniosynostosis syndrome
Trigonocephaly 1
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Pfeiffer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4718752 rs_201054877

5 SubmittersRCV000289001RCV000347374RCV000386920RCV000391006RCV001584091RCV001861321RCV005863131RCV002523679

NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) SNV
Germline
Chr8:38418290 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis, nonspecific
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Condition: not provided
7 conditions
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA4718401 rs_200776757

11 SubmittersRCV000284766RCV000337400RCV000343209RCV000404673RCV000408775RCV000703651RCV001528843RCV005398494RCV005899368

NM_023110.3(FGFR1):c.549C>T (p.Thr183=) SNV
Germline
Chr8:38427993 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder
Criteria Provided
Conflicting Classifications
CA10627741 rs_886062920

3 SubmittersRCV000350262RCV000362873RCV000404923RCV000395523RCV001403682RCV004544702

NM_023110.3(FGFR1):c.359-4A>G SNV
Germline
Chr8:38428439 Conflicting classifications of pathogenicity Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4718770 rs_185233212

5 SubmittersRCV000261182RCV000301233RCV000332863RCV000371147RCV000866450RCV001551170

NM_023110.3(FGFR1):c.273C>T (p.Ser91=) SNV
Germline
Chr8:38429767 Conflicting classifications of pathogenicity Trigonocephaly 1
Osteoglophonic dysplasia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718832 rs_201823433

2 SubmittersRCV000270450RCV000307070RCV000366421RCV000369735RCV001464330

NM_023110.3(FGFR1):c.663G>T (p.Val221=) SNV
Germline
Chr8:38426204 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Trigonocephaly 1
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718673 rs_766451294

2 SubmittersRCV000281294RCV000321287RCV000338752RCV000378184RCV001478554

NM_023110.3(FGFR1):c.1430+13T>C SNV
Germline
Chr8:38418215 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718385 rs_763815221

2 SubmittersRCV000271401RCV000285905RCV000328758RCV000386851RCV002058730

NM_023110.3(FGFR1):c.742G>A (p.Val248Met) SNV
Germline
Chr8:38426125 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA4718662 rs_186746130

2 SubmittersRCV000379458RCV003766087

NM_023110.3(FGFR1):c.2062G>C (p.Val688Leu) SNV
Germline
Chr8:38414276 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA16042715 rs_1057518060

2 SubmittersRCV000413066RCV005222914

NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) SNV
Germline
Chr10:121488055 Pathogenic/Likely pathogenic Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis
Criteria Provided
Multiple Submitters
No Conflicts
CA16043905 rs_1057519047

4 SubmittersRCV000415480RCV000731782RCV006462605

NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) SNV
Germline
Chr10:121496701 Pathogenic/Likely pathogenic Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis
11 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA16043906 rs_121918506

5 SubmittersRCV000415495RCV001549391RCV001865307RCV002488862

NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) SNV
Germline
Chr10:121517378 Pathogenic Jackson-Weiss syndrome
FGFR2-related craniosynostosis
Crouzon syndrome
Condition: not provided
Pfeiffer syndrome
FGFR2-related disorder
Crouzon syndrome
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10575447 rs_121918487

12 SubmittersRCV000415499RCV000560038RCV000856727RCV001729573RCV003155177RCV004737463RCV006268764

NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly) SNV
Germline
Chr10:121517379 Pathogenic Pfeiffer syndrome
FGFR2-related syndromic and non-syndromic craniosynostoses
Condition: not provided
FGFR2-related craniosynostosis
Criteria Provided
Multiple Submitters
No Conflicts
CA16043910 rs_121918488

4 SubmittersRCV000415501RCV001270790RCV001591054RCV001861462

NM_000141.5(FGFR2):c.940-2A>G SNV
Germline
Chr10:121517465 Conflicting classifications of pathogenicity Pfeiffer syndrome
FGFR2-related craniosynostosis
Condition: not provided
11 conditions
Criteria Provided
Conflicting Classifications
CA16043914 rs_1057519041

6 SubmittersRCV000415479RCV000558628RCV001559997RCV004796173

NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) SNV
Germline
Chr8:38417954 Pathogenic Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16603309 rs_869025670

2 SubmittersRCV000417937RCV002524730

NM_023110.3(FGFR1):c.2073G>T (p.Trp691Cys) SNV
Germline
Chr8:38414265 Conflicting classifications of pathogenicity Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA16605223 rs_1057524546

2 SubmittersRCV000430948RCV006556002

NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) SNV
Germline
Chr8:38413932 Conflicting classifications of pathogenicity Condition: not provided
Osteoglophonic dysplasia
Trigonocephaly 1
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
not specified
Criteria Provided
Conflicting Classifications
CA4718131 rs_201490643

5 SubmittersRCV000726653RCV001164855RCV001164854RCV001078934RCV001164856RCV001164857RCV006436784

NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) SNV
Germline
Chr8:38417374 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
not specified
Criteria Provided
Conflicting Classifications
CA4718332 rs_777345476

4 SubmittersRCV000481922RCV002526617RCV005044726RCV006452676

NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met) SNV
Germline
Chr8:38421859 Conflicting classifications of pathogenicity Condition: not provided
Hartsfield-Bixler-Demyer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA16618630 rs_1064793123

3 SubmittersRCV000480479RCV003168938RCV003766656

NM_023110.3(FGFR1):c.817G>A (p.Val273Met) SNV
Germline
Chr8:38424628 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA370735039 rs_1131691929

3 SubmittersRCV000492969RCV001851361RCV003234560

NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) SNV
Germline
Chr8:38457364 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA4718940 rs_145434725

5 SubmittersRCV000493590RCV001856982RCV002496901RCV004584731

NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) SNV
Germline
Chr8:38417902 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718357 rs_369356672

4 SubmittersRCV000498726RCV001253587RCV001857029RCV002481592

NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) SNV
Germline
Chr8:38429808 Pathogenic/Likely pathogenic Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA370736382 rs_1554570706

5 SubmittersRCV000498444RCV000704507RCV001004067RCV004527604

NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg) SNV
Germline
Chr8:38414279 Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA370729121 rs_727505376

2 SubmittersRCV000503490RCV006556114

NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala) SNV
Germline
Chr8:38428408 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA4718764 rs_765615419

6 SubmittersRCV000521203RCV002060267RCV004537871RCV004584739

NM_000141.5(FGFR2):c.1019A>G (p.Tyr340Cys) SNV
Germline
Chr10:121517384 Pathogenic Condition: not provided
FGFR2-related craniosynostosis
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA378328024 rs_1554928884

7 SubmittersRCV000523700RCV001232531RCV004796222

NM_023110.3(FGFR1):c.1430+1G>A SNV
Germline
Chr8:38418227 Pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370733169 rs_1554552774

1 SubmittersRCV000552321

NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) SNV
Germline
Chr8:38418315 Conflicting classifications of pathogenicity Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
Inborn genetic diseases
7 conditions
Criteria Provided
Conflicting Classifications
CA4718406 rs_758138124

5 SubmittersRCV000540340RCV000757294RCV002528411RCV005044823

NM_023110.3(FGFR1):c.1854+19C>T SNV
Germline
Chr8:38415851 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718269 rs_199830036

2 SubmittersRCV000592281RCV002062015

NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) SNV
Germline
Chr8:38419719 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder
Criteria Provided
Conflicting Classifications
CA4718477 rs_56174879

6 SubmittersRCV000592343RCV002062027RCV004543338

NM_023110.3(FGFR1):c.2007C>T (p.Pro669=) SNV
Germline
Chr8:38414600 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718203 rs_760681522

2 SubmittersRCV000594996RCV002531092

NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) SNV
Germline
Chr8:38429826 Pathogenic/Likely pathogenic Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA370736417 rs_1554570813

3 SubmittersRCV000593963RCV000644518RCV002483651

NM_023110.3(FGFR1):c.2292+3A>G SNV
Germline
Chr8:38413915 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4718129 rs_747737281

3 SubmittersRCV000644519RCV001548029

NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) SNV
Germline
Chr8:38413633 Conflicting classifications of pathogenicity Condition: not provided
Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder
Encephalocraniocutaneous lipomatosis
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718065 rs_17182463

6 SubmittersRCV000644522RCV001159834RCV001159835RCV001159836RCV001159837RCV002060753RCV004533371RCV005863232

NM_023110.3(FGFR1):c.168G>A (p.Arg56=) SNV
Germline
Chr8:38429872 Conflicting classifications of pathogenicity Condition: not provided
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Osteoglophonic dysplasia
FGFR1-related disorder
Criteria Provided
Conflicting Classifications
CA4718864 rs_147482922

4 SubmittersRCV000711645RCV001158598RCV001165323RCV001483664RCV001165322RCV001165324RCV004544956

NM_023110.3(FGFR1):c.91+1G>A SNV
Germline
Chr8:38457355 Pathogenic/Likely pathogenic Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA370767113 rs_1563626890

2 SubmittersRCV000785153RCV006556677

NM_023110.3(FGFR1):c.448+1G>A SNV
Germline
Chr8:38428345 Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA4718743 rs_376416531

3 SubmittersRCV000810317RCV002507407RCV004596350

NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) SNV
Germline
Chr8:38419548 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4718450 rs_144131616

3 SubmittersRCV000861800RCV001532614

NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) SNV
Germline
Chr8:38414887 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
not specified
Criteria Provided
Conflicting Classifications
CA4718241 rs_780009859

3 SubmittersRCV001162901RCV001162902RCV001162903RCV001162904RCV002064519RCV006269041

NM_023110.3(FGFR1):c.1431-5G>A SNV
Germline
Chr8:38417996 Conflicting classifications of pathogenicity Condition: not provided
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4718370 rs_201773631

5 SubmittersRCV000868644RCV001160068RCV001160069RCV001160070RCV001160071RCV001497484RCV002539010

NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) SNV
Germline
Chr8:38415915 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718282 rs_377314381

2 SubmittersRCV003768696RCV005047138

NM_023110.3(FGFR1):c.937-6T>G SNV
Germline
Chr8:38421947 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Inborn genetic diseases
Malignant tumor of esophagus
Criteria Provided
Conflicting Classifications
CA4718553 rs_374904700

4 SubmittersRCV000981734RCV001504884RCV002549574RCV005912092

NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) SNV
Germline
Chr8:38413646 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA175137607 rs_1014179319

2 SubmittersRCV001159838RCV001159840RCV001159839RCV001161239RCV002070974

NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) SNV
Germline
Chr8:38413698 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718083 rs_377620009

3 SubmittersRCV001161242RCV001161240RCV001161241RCV001161243RCV001859044RCV005047324

NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) SNV
Germline
Chr8:38414583 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718200 rs_771078736

3 SubmittersRCV001161356RCV001161357RCV001161358RCV001161359RCV001779123RCV003769772

NM_023110.3(FGFR1):c.861C>T (p.Ile287=) SNV
Germline
Chr8:38424584 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Craniosynostosis syndrome
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA460399598 rs_1370490922

2 SubmittersRCV001165096RCV001165093RCV001165094RCV001165095RCV003769796

NM_023110.3(FGFR1):c.741C>T (p.Val247=) SNV
Germline
Chr8:38426126 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Trigonocephaly 1
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA4718663 rs_745325958

2 SubmittersRCV001158382RCV001158383RCV001158384RCV001158385RCV001423260

NM_023110.3(FGFR1):c.274G>A (p.Val92Met) SNV
Germline
Chr8:38429766 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
7 conditions
Criteria Provided
Conflicting Classifications
CA4718831 rs_755828990

4 SubmittersRCV001163227RCV001163226RCV001163225RCV001165321RCV002557393RCV004538383RCV005039980

NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) SNV
Germline
Chr8:38457379 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718943 rs_143341876

3 SubmittersRCV001161821RCV001161823RCV001161822RCV001163335RCV003319443RCV003769778

NM_023110.3(FGFR1):c.2187-14C>T SNV
Germline
Chr8:38414037 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA581431067 rs_1390439587

2 SubmittersRCV001161355RCV001161352RCV001161354RCV001161353RCV006557068

NM_023110.3(FGFR1):c.937-14G>A SNV
Germline
Chr8:38421955 Conflicting classifications of pathogenicity Encephalocraniocutaneous lipomatosis
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA4718555 rs_779223305

2 SubmittersRCV001198090RCV003770214

NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) SNV
Germline
Chr8:38417377 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370732299 rs_1817052708

1 SubmittersRCV001221361

NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) SNV
Germline
Chr8:38429751 Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Single Submitter
CA370736271 rs_1260404537

2 SubmittersRCV001251092RCV003770305

NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val) SNV
Germline
Chr8:38414837 Conflicting classifications of pathogenicity Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA370730320 rs_1815800575

2 SubmittersRCV001269555RCV001880193

NM_023110.3(FGFR1):c.1477G>A (p.Val493Met) SNV
Germline
Chr8:38417945 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718364 rs_752601407

2 SubmittersRCV001376140RCV001871980

NM_023110.3(FGFR1):c.789C>T (p.Ala263=) SNV
Germline
Chr8:38424656 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4718640 rs_780944776

3 SubmittersRCV001499467RCV005040293RCV004774451

NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) SNV
Germline
Chr8:38457381 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
not specified
Condition: not provided
Osteoglophonic dysplasia
FGFR1-related disorder
Hypogonadotropic hypogonadism
Criteria Provided
Conflicting Classifications
CA4718944 rs_17175750

7 SubmittersRCV001520874RCV001658222RCV001565165RCV001843591RCV004740711RCV006438862

NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) SNV
Germline
Chr8:38429774 Conflicting classifications of pathogenicity Condition: not provided
FGFR1-related disorder
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718835 rs_773938208

4 SubmittersRCV001545476RCV004536170RCV003771675RCV005040313

NM_023110.3(FGFR1):c.448+1G>C SNV
Germline
Chr8:38428345 Conflicting classifications of pathogenicity Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
7 conditions
Criteria Provided
Conflicting Classifications
CA4718744 rs_376416531

4 SubmittersRCV001561278RCV001882653RCV002476862

NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln) SNV
Germline
Chr8:38413746 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Gastric cancer
Criteria Provided
Conflicting Classifications
CA4718093 rs_746602135

3 SubmittersRCV001582193RCV001866204RCV005919320

NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val) SNV
Germline
Chr8:38421850 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA370734179 rs_1818935081

6 SubmittersRCV001588385RCV001821923RCV003234578RCV004741043RCV005225443

NM_023110.3(FGFR1):c.2049-12G>A SNV
Germline
Chr8:38414301 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718186 rs_563601371

2 SubmittersRCV001590812RCV002592504

NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln) SNV
Germline
Chr8:38414891 Conflicting classifications of pathogenicity Condition: not provided
Hartsfield-Bixler-Demyer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Orofacial cleft 1
Criteria Provided
Conflicting Classifications
CA370730601 rs_1815818452

4 SubmittersRCV001732716RCV002051952RCV003771891RCV005868334

NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) SNV
Germline
Chr8:38413669 Conflicting classifications of pathogenicity Condition: not provided
7 conditions
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA370726777 rs_759376422

3 SubmittersRCV001756402RCV002506757RCV003771910

NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) SNV
Germline
Chr8:38413671 Conflicting classifications of pathogenicity Condition: not provided
7 conditions
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718073 rs_771680156

4 SubmittersRCV001752176RCV002506762RCV006557634

NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln) SNV
Germline
Chr8:38414625 Conflicting classifications of pathogenicity Condition: not provided
FGFR1-related craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA370729808 rs_1257312391

4 SubmittersRCV001774037RCV001796998RCV003234584RCV005213572

NM_023110.3(FGFR1):c.243C>T (p.Ile81=) SNV
Germline
Chr8:38429797 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder
Criteria Provided
Conflicting Classifications
CA4718840 rs_764340351

3 SubmittersRCV001769468RCV002540517RCV004542105

NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) SNV
Germline
Chr8:38414626 Pathogenic/Likely pathogenic Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA370729814 rs_776264072

5 SubmittersRCV001822020RCV002541949RCV003147684RCV005419218

NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) SNV
Germline
Chr8:38429694 Conflicting classifications of pathogenicity 7 conditions
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA4718816 rs_747842199

3 SubmittersRCV002486599RCV003438911RCV001991741

NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) SNV
Germline
Chr8:38429799 Conflicting classifications of pathogenicity Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
not specified
FGFR1-related disorder
Criteria Provided
Conflicting Classifications
CA4718841 rs_201574031

4 SubmittersRCV001906268RCV002267642RCV002509716RCV004741134

NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) SNV
Germline
Chr8:38413943 Conflicting classifications of pathogenicity Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
7 conditions
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4718135 rs_374473310

4 SubmittersRCV001935567RCV002491888RCV005242126

NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) SNV
Germline
Chr8:38428010 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA370735697 rs_2150914598

2 SubmittersRCV001916796RCV003234585

NM_023110.3(FGFR1):c.622-2A>G SNV
Germline
Chr8:38426247 Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Single Submitter
CA370735485 rs_2150866757

1 SubmittersRCV001998653

NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) SNV
Germline
Chr8:38419631 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718458 rs_752627281

2 SubmittersRCV002040746RCV002492357

NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) SNV
Germline
Chr8:38419638 Conflicting classifications of pathogenicity Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
7 conditions
Criteria Provided
Conflicting Classifications
CA4718460 rs_374674165

2 SubmittersRCV001948575RCV005042548

NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) SNV
Germline
Chr8:38429871 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA370736511 rs_1301127877

3 SubmittersRCV002049384RCV004558671RCV005040420

NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly) SNV
Germline
Chr8:38414834 Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA370730309 rs_2150562439

3 SubmittersRCV002294741RCV003101705

NM_023110.3(FGFR1):c.449-6G>A SNV
Germline
Chr8:38428099 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications
CA2580078245 rs_2150920643

2 SubmittersRCV002300857RCV003101708

NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser) SNV
Germline
Chr8:38414873 Pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370730506 rs_2536819756

1 SubmittersRCV003062160

NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe) SNV
Germline
Chr8:38429738 Pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370736242 rs_2537260821

1 SubmittersRCV003037292

NM_000141.5(FGFR2):c.1084+2T>C SNV
Germline
Chr10:121517317 Pathogenic FGFR2-related craniosynostosis
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA378327628 rs_2134253566

2 SubmittersRCV003058266RCV005002018

NM_023110.3(FGFR1):c.92-6C>G SNV
Germline
Chr8:38429954 Conflicting classifications of pathogenicity Inborn genetic diseases
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA4718880 rs_370666667

2 SubmittersRCV002766800RCV002785502

NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser) SNV
Germline
Chr8:38414231 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
FGFR1-related disorder
7 conditions
Criteria Provided
Conflicting Classifications
CA4718176 rs_768957161

6 SubmittersRCV002834533RCV003234594RCV005251329RCV004545401RCV005045009

NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe) SNV
Germline
Chr8:38414591 Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Single Submitter
CA370729581 rs_2536805437

1 SubmittersRCV002982719

NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly) SNV
Germline
Chr8:38414559 Pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370729326 rs_2150548391

1 SubmittersRCV003014891

NM_023110.3(FGFR1):c.136C>T (p.His46Tyr) SNV
Germline
Chr8:38429904 Conflicting classifications of pathogenicity Inborn genetic diseases
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA4718874 rs_769061510

2 SubmittersRCV002784370RCV005227871

NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter) SNV
Germline
Chr8:38417380 Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA370732312 rs_1554551706

2 SubmittersRCV003234660RCV006561275

NM_023110.3(FGFR1):c.1977+1G>T SNV
Germline
Chr8:38414778 Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA370729947 rs_876661334

2 SubmittersRCV003234669RCV005227951

NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp) SNV
Germline
Chr8:38424685 Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA370735158 rs_2150825999

2 SubmittersRCV003234685RCV005227952

NM_023110.3(FGFR1):c.289G>A (p.Gly97Ser) SNV
Germline
Chr8:38429751 Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA370736272 rs_1260404537

3 SubmittersRCV003234713RCV006561277

NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter) SNV
Germline
Chr8:38429886 Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA370736538 rs_2150964621

3 SubmittersRCV003234730RCV006561278

NM_000141.5(FGFR2):c.1988G>A (p.Gly663Glu) SNV
Germline
Chr10:121487423 Pathogenic FGFR2-related craniosynostosis
Pfeiffer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA378313388 rs_2133825396

2 SubmittersRCV003588491RCV004698884

NM_023110.3(FGFR1):c.2049-1G>A SNV
Germline
Chr8:38414290 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370729203 rs_2150537863

1 SubmittersRCV003781088

NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro) SNV
Germline
Chr8:38421797 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370734067 rs_2150751821

1 SubmittersRCV003781089

NM_023110.3(FGFR1):c.1977C>T (p.Asn659=) SNV
Germline
Chr8:38414779 Conflicting classifications of pathogenicity Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA460395351 rs_1296971200

2 SubmittersRCV003795511RCV006435358

NM_023110.3(FGFR1):c.746-14C>T SNV
Germline
Chr8:38424713 Conflicting classifications of pathogenicity 7 conditions
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Conflicting Classifications
CA581431278 rs_1171714073

2 SubmittersRCV005040515RCV003793057

NM_023110.3(FGFR1):c.112G>A (p.Val38Met) SNV
Germline
Chr8:38429928 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718877 rs_377555354

2 SubmittersRCV003788141RCV005040499

NM_023110.3(FGFR1):c.1855-2A>G SNV
Germline
Chr8:38414903 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370730664 rs_1554548434

1 SubmittersRCV003806844

NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter) SNV
Germline
Chr8:38413672 Conflicting classifications of pathogenicity Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Hartsfield-Bixler-Demyer syndrome
7 conditions
Criteria Provided
Conflicting Classifications
CA4718074 rs_775166971

3 SubmittersRCV003801112RCV004596608RCV005040526

NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg) SNV
Germline
Chr8:38414249 Pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370728912 rs_2536788775

1 SubmittersRCV003804839

NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly) SNV
Germline
Chr8:38428010 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370735696 rs_2150914598

1 SubmittersRCV003817675

NM_023110.3(FGFR1):c.745+1G>T SNV
Germline
Chr8:38426121 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370735194 rs_2150857240

1 SubmittersRCV003815721

NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu) SNV
Germline
Chr8:38413976 Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Single Submitter
CA370727979 rs_2536775609

1 SubmittersRCV003815480

NM_023110.3(FGFR1):c.1081+1G>A SNV
Germline
Chr8:38421796 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter
CA370734065 rs_2150751795

1 SubmittersRCV003807496

NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr) SNV
Germline
Chr10:121517460 Conflicting classifications of pathogenicity Pfeiffer syndrome
11 conditions
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5720886 rs_121918504

3 SubmittersRCV003988759RCV005040620RCV004794670

NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser) SNV
Germline
Chr10:121485494 Likely pathogenic Pfeiffer syndrome Criteria Provided
Single Submitter
CA378312414 rs_2539419195

1 SubmittersRCV003989002

NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe) SNV
Germline
Chr10:121515280 Conflicting classifications of pathogenicity Pfeiffer syndrome
11 conditions
Condition: not provided
FGFR2-related craniosynostosis
Criteria Provided
Conflicting Classifications
CA378327313 rs_121913478

4 SubmittersRCV004017205RCV005038646RCV006259554RCV006564684

NM_023110.3(FGFR1):c.449-1G>A SNV
Germline
Chr8:38428094 Likely pathogenic Pfeiffer syndrome Criteria Provided
Single Submitter
CA370735884 rs_2150920571

1 SubmittersRCV004546880

NM_023110.3(FGFR1):c.954C>T (p.Thr318=) SNV
Germline
Chr8:38421924 Conflicting classifications of pathogenicity Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004761709RCV005221040

NM_023110.3(FGFR1):c.1882A>G (p.Asn628Asp) SNV
Germline
Chr8:38414874 Pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter

1 SubmittersRCV005225773

NM_023110.3(FGFR1):c.2186+2T>G SNV
Germline
Chr8:38414150 Likely pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter

1 SubmittersRCV005221396

NM_023110.3(FGFR1):c.1231C>T (p.Gln411Ter) SNV
Germline
Chr8:38419586 Pathogenic Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Criteria Provided
Single Submitter

1 SubmittersRCV005221515

NM_000141.5(FGFR2):c.940-2A>T SNV
Germline
Chr10:121517465 Pathogenic Pfeiffer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005882569