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 SubmittersRCV000014173 RCV000014174 RCV000547490 RCV000762801 RCV001090933 RCV001196204 RCV001730471 RCV004795406 RCV006605188
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 SubmittersRCV000014178 RCV000014180 RCV000014177 RCV000014179 RCV000534888 RCV001723565
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 SubmittersRCV000014181 RCV000014182 RCV000014183 RCV000415484 RCV000490034 RCV000655416
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 SubmittersRCV000014188 RCV000014187 RCV001851846 RCV003313919 RCV005249989
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 SubmittersRCV000014190 RCV000726654 RCV000655421 RCV000626619 RCV001823713 RCV004813038
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 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000552015 RCV002476961 RCV004532334 RCV004527288 RCV005841520 RCV005229786 RCV006253543
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 SubmittersRCV000014193 RCV000489611 RCV000532721 RCV000762803 RCV001197223 RCV004532335 RCV005859461
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 SubmittersRCV000014194 RCV001037961 RCV001781263
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 SubmittersRCV000014196 RCV000014197 RCV000415509 RCV001217538 RCV001572560 RCV005831545 RCV005867753
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 SubmittersRCV000014203 RCV002254264 RCV003150929 RCV004532337
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 SubmittersRCV000014208 RCV000014209 RCV000256107 RCV000415503 RCV000528973 RCV003313920 RCV004737152
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 SubmittersRCV000014213 RCV000408850 RCV000435703 RCV000690962 RCV002508123
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 SubmittersRCV000014215 RCV000694780
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 SubmittersRCV000014217 RCV000014218 RCV000655418 RCV001268882 RCV002490362
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 SubmittersRCV000014219 RCV001851848 RCV003441716 RCV004532338
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 SubmittersRCV000014220 RCV000014221 RCV003988821 RCV004760330 RCV005089251
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 SubmittersRCV000014225 RCV000014226 RCV001382547 RCV001254178 RCV002273930
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 SubmittersRCV000014227 RCV002513039
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 SubmittersRCV000017669 RCV000017670 RCV000644520 RCV001200303 RCV002496391 RCV005229812 RCV004798731
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 SubmittersRCV000030926 RCV000156953 RCV000156954 RCV000760399 RCV002513084 RCV004584329 RCV005252688
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 SubmittersRCV000017681 RCV000514891 RCV000502492 RCV000766015 RCV001407682 RCV004532374
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 SubmittersRCV000017682 RCV002254904 RCV002514106
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 SubmittersRCV000030932 RCV001851897
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 SubmittersRCV000030934 RCV000500417 RCV000478244 RCV003764580
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 SubmittersRCV000030940 RCV002514107
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 SubmittersRCV001857786 RCV003234553
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 SubmittersRCV000043590 RCV003234544 RCV003764717
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 SubmittersRCV000043591 RCV003234545 RCV004739327 RCV005222729 RCV005831549
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 SubmittersRCV000156967 RCV001251086 RCV001795280 RCV005222785 RCV004535018
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 SubmittersRCV000174406 RCV001429514
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 SubmittersRCV000223775 RCV000995547 RCV001562405 RCV003765451 RCV004782316 RCV005044464
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 SubmittersRCV000255197 RCV000415498 RCV000557313 RCV000844883 RCV004737395
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 SubmittersRCV000323081 RCV002521956 RCV005049516
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 SubmittersRCV000373182 RCV002059223 RCV004535389
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 SubmittersRCV000295326 RCV000294107 RCV000333930 RCV000385866 RCV002058729
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 SubmittersRCV000289001 RCV000347374 RCV000386920 RCV000391006 RCV001584091 RCV001861321 RCV005863131 RCV002523679
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 SubmittersRCV000284766 RCV000337400 RCV000343209 RCV000404673 RCV000408775 RCV000703651 RCV001528843 RCV005398494 RCV005899368
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 SubmittersRCV000350262 RCV000362873 RCV000404923 RCV000395523 RCV001403682 RCV004544702
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 SubmittersRCV000261182 RCV000301233 RCV000332863 RCV000371147 RCV000866450 RCV001551170
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 SubmittersRCV000270450 RCV000307070 RCV000366421 RCV000369735 RCV001464330
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 SubmittersRCV000281294 RCV000321287 RCV000338752 RCV000378184 RCV001478554
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 SubmittersRCV000271401 RCV000285905 RCV000328758 RCV000386851 RCV002058730
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 SubmittersRCV000379458 RCV003766087
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 SubmittersRCV000413066 RCV005222914
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 SubmittersRCV000415480 RCV000731782 RCV006462605
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 SubmittersRCV000415495 RCV001549391 RCV001865307 RCV002488862
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 SubmittersRCV000415499 RCV000560038 RCV000856727 RCV001729573 RCV003155177 RCV004737463 RCV006268764
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 SubmittersRCV000415501 RCV001270790 RCV001591054 RCV001861462
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 SubmittersRCV000415479 RCV000558628 RCV001559997 RCV004796173
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 SubmittersRCV000417937 RCV002524730
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 SubmittersRCV000430948 RCV006556002
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 SubmittersRCV000726653 RCV001164855 RCV001164854 RCV001078934 RCV001164856 RCV001164857 RCV006436784
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 SubmittersRCV000481922 RCV002526617 RCV005044726 RCV006452676
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 SubmittersRCV000480479 RCV003168938 RCV003766656
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 SubmittersRCV000492969 RCV001851361 RCV003234560
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 SubmittersRCV000493590 RCV001856982 RCV002496901 RCV004584731
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 SubmittersRCV000498726 RCV001253587 RCV001857029 RCV002481592
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 SubmittersRCV000498444 RCV000704507 RCV001004067 RCV004527604
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 SubmittersRCV000503490 RCV006556114
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 SubmittersRCV000521203 RCV002060267 RCV004537871 RCV004584739
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 SubmittersRCV000523700 RCV001232531 RCV004796222
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 SubmittersRCV000540340 RCV000757294 RCV002528411 RCV005044823
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 SubmittersRCV000592281 RCV002062015
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 SubmittersRCV000592343 RCV002062027 RCV004543338
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 SubmittersRCV000594996 RCV002531092
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 SubmittersRCV000593963 RCV000644518 RCV002483651
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 SubmittersRCV000644519 RCV001548029
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 SubmittersRCV000644522 RCV001159834 RCV001159835 RCV001159836 RCV001159837 RCV002060753 RCV004533371 RCV005863232
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 SubmittersRCV000711645 RCV001158598 RCV001165323 RCV001483664 RCV001165322 RCV001165324 RCV004544956
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 SubmittersRCV000785153 RCV006556677
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 SubmittersRCV000810317 RCV002507407 RCV004596350
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 SubmittersRCV000861800 RCV001532614
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 SubmittersRCV001162901 RCV001162902 RCV001162903 RCV001162904 RCV002064519 RCV006269041
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 SubmittersRCV000868644 RCV001160068 RCV001160069 RCV001160070 RCV001160071 RCV001497484 RCV002539010
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 SubmittersRCV003768696 RCV005047138
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 SubmittersRCV000981734 RCV001504884 RCV002549574 RCV005912092
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 SubmittersRCV001159838 RCV001159840 RCV001159839 RCV001161239 RCV002070974
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 SubmittersRCV001161242 RCV001161240 RCV001161241 RCV001161243 RCV001859044 RCV005047324
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 SubmittersRCV001161356 RCV001161357 RCV001161358 RCV001161359 RCV001779123 RCV003769772
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 SubmittersRCV001165096 RCV001165093 RCV001165094 RCV001165095 RCV003769796
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 SubmittersRCV001158382 RCV001158383 RCV001158384 RCV001158385 RCV001423260
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 SubmittersRCV001163227 RCV001163226 RCV001163225 RCV001165321 RCV002557393 RCV004538383 RCV005039980
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 SubmittersRCV001161821 RCV001161823 RCV001161822 RCV001163335 RCV003319443 RCV003769778
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 SubmittersRCV001161355 RCV001161352 RCV001161354 RCV001161353 RCV006557068
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 SubmittersRCV001198090 RCV003770214
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 SubmittersRCV001251092 RCV003770305
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 SubmittersRCV001269555 RCV001880193
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 SubmittersRCV001376140 RCV001871980
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 SubmittersRCV001499467 RCV005040293 RCV004774451
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 SubmittersRCV001520874 RCV001658222 RCV001565165 RCV001843591 RCV004740711 RCV006438862
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 SubmittersRCV001545476 RCV004536170 RCV003771675 RCV005040313
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 SubmittersRCV001561278 RCV001882653 RCV002476862
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 SubmittersRCV001582193 RCV001866204 RCV005919320
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 SubmittersRCV001588385 RCV001821923 RCV003234578 RCV004741043 RCV005225443
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 SubmittersRCV001590812 RCV002592504
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 SubmittersRCV001732716 RCV002051952 RCV003771891 RCV005868334
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 SubmittersRCV001756402 RCV002506757 RCV003771910
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 SubmittersRCV001752176 RCV002506762 RCV006557634
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 SubmittersRCV001774037 RCV001796998 RCV003234584 RCV005213572
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 SubmittersRCV001769468 RCV002540517 RCV004542105
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 SubmittersRCV001822020 RCV002541949 RCV003147684 RCV005419218
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 SubmittersRCV002486599 RCV003438911 RCV001991741
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 SubmittersRCV001906268 RCV002267642 RCV002509716 RCV004741134
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 SubmittersRCV001935567 RCV002491888 RCV005242126
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 SubmittersRCV001916796 RCV003234585
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 SubmittersRCV002040746 RCV002492357
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 SubmittersRCV001948575 RCV005042548
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 SubmittersRCV002049384 RCV004558671 RCV005040420
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 SubmittersRCV002294741 RCV003101705
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 SubmittersRCV002300857 RCV003101708
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 SubmittersRCV003058266 RCV005002018
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 SubmittersRCV002766800 RCV002785502
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 SubmittersRCV002834533 RCV003234594 RCV005251329 RCV004545401 RCV005045009
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 SubmittersRCV002784370 RCV005227871
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 SubmittersRCV003234660 RCV006561275
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 SubmittersRCV003234669 RCV005227951
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 SubmittersRCV003234685 RCV005227952
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 SubmittersRCV003234713 RCV006561277
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 SubmittersRCV003234730 RCV006561278
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 SubmittersRCV003588491 RCV004698884
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 SubmittersRCV003795511 RCV006435358
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 SubmittersRCV005040515 RCV003793057
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 SubmittersRCV003788141 RCV005040499
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 SubmittersRCV003801112 RCV004596608 RCV005040526
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 SubmittersRCV003988759 RCV005040620 RCV004794670
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 SubmittersRCV004017205 RCV005038646 RCV006259554 RCV006564684
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 SubmittersRCV004761709 RCV005221040
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

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 SubmittersRCV000014173 RCV000014174 RCV000547490 RCV000762801 RCV001090933 RCV001196204 RCV001730471 RCV004795406 RCV006605188

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 SubmittersRCV000014178 RCV000014180 RCV000014177 RCV000014179 RCV000534888 RCV001723565

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 SubmittersRCV000014181 RCV000014182 RCV000014183 RCV000415484 RCV000490034 RCV000655416

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 SubmittersRCV000014188 RCV000014187 RCV001851846 RCV003313919 RCV005249989

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 SubmittersRCV000014190 RCV000726654 RCV000655421 RCV000626619 RCV001823713 RCV004813038

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 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000552015 RCV002476961 RCV004532334 RCV004527288 RCV005841520 RCV005229786 RCV006253543

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 SubmittersRCV000014193 RCV000489611 RCV000532721 RCV000762803 RCV001197223 RCV004532335 RCV005859461

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 SubmittersRCV000014194 RCV001037961 RCV001781263

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 SubmittersRCV000014196 RCV000014197 RCV000415509 RCV001217538 RCV001572560 RCV005831545 RCV005867753

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 SubmittersRCV000014203 RCV002254264 RCV003150929 RCV004532337

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 SubmittersRCV000014208 RCV000014209 RCV000256107 RCV000415503 RCV000528973 RCV003313920 RCV004737152

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 SubmittersRCV000014213 RCV000408850 RCV000435703 RCV000690962 RCV002508123

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 SubmittersRCV000014215 RCV000694780

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 SubmittersRCV000014217 RCV000014218 RCV000655418 RCV001268882 RCV002490362

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 SubmittersRCV000014219 RCV001851848 RCV003441716 RCV004532338

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 SubmittersRCV000014220 RCV000014221 RCV003988821 RCV004760330 RCV005089251

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 SubmittersRCV000014225 RCV000014226 RCV001382547 RCV001254178 RCV002273930

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 SubmittersRCV000014227 RCV002513039

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 SubmittersRCV000017669 RCV000017670 RCV000644520 RCV001200303 RCV002496391 RCV005229812 RCV004798731

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 SubmittersRCV000030926 RCV000156953 RCV000156954 RCV000760399 RCV002513084 RCV004584329 RCV005252688

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 SubmittersRCV000017681 RCV000514891 RCV000502492 RCV000766015 RCV001407682 RCV004532374

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 SubmittersRCV000017682 RCV002254904 RCV002514106

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 SubmittersRCV000030932 RCV001851897

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 SubmittersRCV000030934 RCV000500417 RCV000478244 RCV003764580

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 SubmittersRCV000030940 RCV002514107

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 SubmittersRCV001857786 RCV003234553

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 SubmittersRCV000043590 RCV003234544 RCV003764717

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 SubmittersRCV000043591 RCV003234545 RCV004739327 RCV005222729 RCV005831549

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 SubmittersRCV000156967 RCV001251086 RCV001795280 RCV005222785 RCV004535018

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 SubmittersRCV000174406 RCV001429514

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 SubmittersRCV000223775 RCV000995547 RCV001562405 RCV003765451 RCV004782316 RCV005044464

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 SubmittersRCV000255197 RCV000415498 RCV000557313 RCV000844883 RCV004737395

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 SubmittersRCV000323081 RCV002521956 RCV005049516

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 SubmittersRCV000373182 RCV002059223 RCV004535389

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 SubmittersRCV000295326 RCV000294107 RCV000333930 RCV000385866 RCV002058729

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 SubmittersRCV000289001 RCV000347374 RCV000386920 RCV000391006 RCV001584091 RCV001861321 RCV005863131 RCV002523679

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 SubmittersRCV000284766 RCV000337400 RCV000343209 RCV000404673 RCV000408775 RCV000703651 RCV001528843 RCV005398494 RCV005899368

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 SubmittersRCV000350262 RCV000362873 RCV000404923 RCV000395523 RCV001403682 RCV004544702

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 SubmittersRCV000261182 RCV000301233 RCV000332863 RCV000371147 RCV000866450 RCV001551170

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 SubmittersRCV000270450 RCV000307070 RCV000366421 RCV000369735 RCV001464330

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 SubmittersRCV000281294 RCV000321287 RCV000338752 RCV000378184 RCV001478554

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 SubmittersRCV000271401 RCV000285905 RCV000328758 RCV000386851 RCV002058730

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 SubmittersRCV000379458 RCV003766087

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 SubmittersRCV000413066 RCV005222914

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 SubmittersRCV000415480 RCV000731782 RCV006462605

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 SubmittersRCV000415495 RCV001549391 RCV001865307 RCV002488862

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 SubmittersRCV000415499 RCV000560038 RCV000856727 RCV001729573 RCV003155177 RCV004737463 RCV006268764

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 SubmittersRCV000415501 RCV001270790 RCV001591054 RCV001861462

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 SubmittersRCV000415479 RCV000558628 RCV001559997 RCV004796173

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 SubmittersRCV000417937 RCV002524730

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 SubmittersRCV000430948 RCV006556002

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 SubmittersRCV000726653 RCV001164855 RCV001164854 RCV001078934 RCV001164856 RCV001164857 RCV006436784

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 SubmittersRCV000481922 RCV002526617 RCV005044726 RCV006452676

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 SubmittersRCV000480479 RCV003168938 RCV003766656

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 SubmittersRCV000492969 RCV001851361 RCV003234560

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 SubmittersRCV000493590 RCV001856982 RCV002496901 RCV004584731

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 SubmittersRCV000498726 RCV001253587 RCV001857029 RCV002481592

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 SubmittersRCV000498444 RCV000704507 RCV001004067 RCV004527604

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 SubmittersRCV000503490 RCV006556114

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 SubmittersRCV000521203 RCV002060267 RCV004537871 RCV004584739

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 SubmittersRCV000523700 RCV001232531 RCV004796222

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 SubmittersRCV000540340 RCV000757294 RCV002528411 RCV005044823

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 SubmittersRCV000592281 RCV002062015

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 SubmittersRCV000592343 RCV002062027 RCV004543338

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 SubmittersRCV000594996 RCV002531092

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 SubmittersRCV000593963 RCV000644518 RCV002483651

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 SubmittersRCV000644519 RCV001548029

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 SubmittersRCV000644522 RCV001159834 RCV001159835 RCV001159836 RCV001159837 RCV002060753 RCV004533371 RCV005863232

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 SubmittersRCV000711645 RCV001158598 RCV001165323 RCV001483664 RCV001165322 RCV001165324 RCV004544956

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 SubmittersRCV000785153 RCV006556677

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 SubmittersRCV000810317 RCV002507407 RCV004596350

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 SubmittersRCV000861800 RCV001532614

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 SubmittersRCV001162901 RCV001162902 RCV001162903 RCV001162904 RCV002064519 RCV006269041

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 SubmittersRCV000868644 RCV001160068 RCV001160069 RCV001160070 RCV001160071 RCV001497484 RCV002539010

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 SubmittersRCV003768696 RCV005047138

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 SubmittersRCV000981734 RCV001504884 RCV002549574 RCV005912092

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 SubmittersRCV001159838 RCV001159840 RCV001159839 RCV001161239 RCV002070974

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 SubmittersRCV001161242 RCV001161240 RCV001161241 RCV001161243 RCV001859044 RCV005047324

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 SubmittersRCV001161356 RCV001161357 RCV001161358 RCV001161359 RCV001779123 RCV003769772

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 SubmittersRCV001165096 RCV001165093 RCV001165094 RCV001165095 RCV003769796

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 SubmittersRCV001158382 RCV001158383 RCV001158384 RCV001158385 RCV001423260

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 SubmittersRCV001163227 RCV001163226 RCV001163225 RCV001165321 RCV002557393 RCV004538383 RCV005039980

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 SubmittersRCV001161821 RCV001161823 RCV001161822 RCV001163335 RCV003319443 RCV003769778

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 SubmittersRCV001161355 RCV001161352 RCV001161354 RCV001161353 RCV006557068

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 SubmittersRCV001198090 RCV003770214

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 SubmittersRCV001251092 RCV003770305

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 SubmittersRCV001269555 RCV001880193

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 SubmittersRCV001376140 RCV001871980

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 SubmittersRCV001499467 RCV005040293 RCV004774451

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 SubmittersRCV001520874 RCV001658222 RCV001565165 RCV001843591 RCV004740711 RCV006438862

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 SubmittersRCV001545476 RCV004536170 RCV003771675 RCV005040313

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 SubmittersRCV001561278 RCV001882653 RCV002476862

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 SubmittersRCV001582193 RCV001866204 RCV005919320

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 SubmittersRCV001588385 RCV001821923 RCV003234578 RCV004741043 RCV005225443

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 SubmittersRCV001590812 RCV002592504

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 SubmittersRCV001732716 RCV002051952 RCV003771891 RCV005868334

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 SubmittersRCV001756402 RCV002506757 RCV003771910

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 SubmittersRCV001752176 RCV002506762 RCV006557634

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 SubmittersRCV001774037 RCV001796998 RCV003234584 RCV005213572

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 SubmittersRCV001769468 RCV002540517 RCV004542105

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 SubmittersRCV001822020 RCV002541949 RCV003147684 RCV005419218

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 SubmittersRCV002486599 RCV003438911 RCV001991741

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 SubmittersRCV001906268 RCV002267642 RCV002509716 RCV004741134

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 SubmittersRCV001935567 RCV002491888 RCV005242126

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 SubmittersRCV001916796 RCV003234585

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 SubmittersRCV002040746 RCV002492357

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 SubmittersRCV001948575 RCV005042548

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 SubmittersRCV002049384 RCV004558671 RCV005040420

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 SubmittersRCV002294741 RCV003101705

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 SubmittersRCV002300857 RCV003101708

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 SubmittersRCV003058266 RCV005002018

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 SubmittersRCV002766800 RCV002785502

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 SubmittersRCV002834533 RCV003234594 RCV005251329 RCV004545401 RCV005045009

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 SubmittersRCV002784370 RCV005227871

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 SubmittersRCV003234660 RCV006561275

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 SubmittersRCV003234669 RCV005227951

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 SubmittersRCV003234685 RCV005227952

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 SubmittersRCV003234713 RCV006561277

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 SubmittersRCV003234730 RCV006561278

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 SubmittersRCV003588491 RCV004698884

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 SubmittersRCV003795511 RCV006435358

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 SubmittersRCV005040515 RCV003793057

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 SubmittersRCV003788141 RCV005040499

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 SubmittersRCV003801112 RCV004596608 RCV005040526

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 SubmittersRCV003988759 RCV005040620 RCV004794670

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 SubmittersRCV004017205 RCV005038646 RCV006259554 RCV006564684

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 SubmittersRCV004761709 RCV005221040

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