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	Criteria Provided Multiple Submitters No Conflicts	CA280168	rs_121918487	16 SubmittersRCV000014173 RCV000014174 RCV000547490 RCV000762801 RCV001090933 RCV001196204 RCV001730471 RCV004795406
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 Condition: not provided Pfeiffer syndrome FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA256746	rs_121918488	5 SubmittersRCV000014181 RCV000014182 RCV000014183 RCV000490034 RCV000415484 RCV000655416
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	SNV Germline	Chr10:121517371	Pathogenic	Crouzon syndrome Craniosynostosis, nonclassifiable autosomal dominant Scaphocephaly and axenfeld-rieger anomaly Craniosynostosis syndrome 11 conditions FGFR2-related craniosynostosis Acrocephalosyndactyly type I Pfeiffer syndrome Condition: not provided 11 conditions FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122983	rs_121918491	12 SubmittersRCV000014184 RCV000014185 RCV000014186 RCV000192353 RCV000762800 RCV000686210 RCV002247335 RCV002250460 RCV001579726 RCV002482864 RCV002280092
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)	SNV Germline	Chr10:121517372	Pathogenic	Jackson-Weiss syndrome Crouzon syndrome FGFR2-related craniosynostosis Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280171	rs_121918492	3 SubmittersRCV000014187 RCV000014188 RCV001851846 RCV003313919
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	SNV Germline	Chr10:121517363	Pathogenic/Likely pathogenic	Crouzon syndrome FGFR2-related craniosynostosis 22 conditions Condition: not provided Pfeiffer syndrome Meier-Gorlin syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA280173	rs_121918494	9 SubmittersRCV000014190 RCV000655421 RCV000626619 RCV000726654 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 Pfeiffer syndrome 11 conditions FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122985	rs_79184941	34 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000552015 RCV002476961 RCV004527288 RCV004795407 RCV004532334
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	6 SubmittersRCV000014194 RCV001037961 RCV001781263
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	SNV Germline	Chr10:121520052	Pathogenic	Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA280178	rs_121918497	6 SubmittersRCV000014196 RCV000014197 RCV000415509 RCV001572560 RCV001217538
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 FGFR2-related craniosynostosis Condition: not provided FGFR2-related disorder Pfeiffer syndrome Crouzon syndrome	Criteria Provided Multiple Submitters No Conflicts	CA122991	rs_121918502	11 SubmittersRCV000014208 RCV000014209 RCV000528973 RCV000256107 RCV004737152 RCV000415503 RCV003313920
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)	SNV Germline/somatic	Chr10:121520119	Pathogenic	Pfeiffer syndrome Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA210548	rs_121918505	6 SubmittersRCV000014213 RCV000408850 RCV000690962 RCV000435703 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	Familial scaphocephaly syndrome, McGillivray type Crouzon syndrome Pfeiffer syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA122996	rs_121918507	3 SubmittersRCV000014221 RCV000014220 RCV003988821 RCV004760330
NM_000141.5(FGFR2):c.1084+3A>G	SNV Germline	Chr10:121517316	Pathogenic	Pfeiffer syndrome Crouzon syndrome FGFR2-related craniosynostosis Crouzon syndrome Pfeiffer syndrome Acrocephalosyndactyly type I 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	Jackson-Weiss syndrome Pfeiffer syndrome Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Condition: not provided 7 conditions Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Multiple Submitters No Conflicts	CA280217	rs_121909627	10 SubmittersRCV000017670 RCV000017669 RCV000644520 RCV001200303 RCV002496391 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	Criteria Provided Multiple Submitters No Conflicts	CA185882	rs_121909628	7 SubmittersRCV000030926 RCV000156953 RCV000156954 RCV000760399 RCV002513084 RCV004584329
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)	SNV Germline	Chr8:38424546	Conflicting classifications of pathogenicity	Trigonocephaly 1 not specified Condition: not provided 7 conditions Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome FGFR1-related disorder	Criteria Provided Conflicting Classifications	CA126355	rs_121909633	13 SubmittersRCV000017681 RCV000502492 RCV000514891 RCV000766015 RCV001407682 RCV004532374
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)	SNV Germline	Chr8:38419676	Pathogenic/Likely pathogenic	Osteoglophonic dysplasia Condition: not provided Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	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 Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	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 Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Conflicting Classifications		rs_267606806	2 SubmittersRCV003234553 RCV001857786
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.1663+9C>T	SNV Germline	Chr8:38417297	Conflicting classifications of pathogenicity	Condition: not provided Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	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 Condition: not provided Hypogonadotropic hypogonadism 2 with or without anosmia Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome FGFR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10581214	rs_876661334	8 SubmittersRCV000223775 RCV001562405 RCV000995547 RCV003765451 RCV004782316
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	Criteria Provided Conflicting Classifications	CA4718852	rs_561300213	2 SubmittersRCV000323081 RCV002521956
NM_023110.3(FGFR1):c.615C>T (p.Gly205=)	SNV Germline	Chr8:38427927	Conflicting classifications of pathogenicity	Condition: not provided Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia FGFR1-related disorder	Criteria Provided Conflicting Classifications	CA4718704	rs_781689191	3 SubmittersRCV000373182 RCV002059223 RCV004535389
NM_023110.3(FGFR1):c.2293-11G>A	SNV Germline	Chr8:38413815	Conflicting classifications of pathogenicity	Hypogonadotropic hypogonadism 2 with or without anosmia Craniosynostosis syndrome Trigonocephaly 1 Osteoglophonic dysplasia Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications	CA10625389	rs_886062919	2 SubmittersRCV000294107 RCV000295326 RCV000333930 RCV000385866 RCV002058729
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)	SNV Germline	Chr8:38428379	Conflicting classifications of pathogenicity	Osteoglophonic dysplasia Hypogonadotropic hypogonadism 2 with or without anosmia Craniosynostosis syndrome Condition: not provided Inborn genetic diseases Trigonocephaly 1 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications	CA4718752	rs_201054877	4 SubmittersRCV000347374 RCV000289001 RCV000386920 RCV001584091 RCV002523679 RCV000391006 RCV001861321
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)	SNV Germline	Chr8:38418290	Conflicting classifications of pathogenicity	Osteoglophonic dysplasia Trigonocephaly 1 Craniosynostosis syndrome Craniosynostosis, nonspecific Hypogonadotropic hypogonadism 2 with or without anosmia Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4718401	rs_200776757	9 SubmittersRCV000284766 RCV000343209 RCV000337400 RCV000408775 RCV000404673 RCV000703651 RCV001528843
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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia 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 Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4718770	rs_185233212	5 SubmittersRCV000261182 RCV000332863 RCV000371147 RCV000301233 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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	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	Trigonocephaly 1 Craniosynostosis syndrome Osteoglophonic dysplasia Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications	CA4718385	rs_763815221	2 SubmittersRCV000285905 RCV000328758 RCV000271401 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_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)	SNV Germline	Chr10:121488055	Pathogenic/Likely pathogenic	Pfeiffer syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043905	rs_1057519047	3 SubmittersRCV000415480 RCV000731782
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	Criteria Provided Multiple Submitters No Conflicts	CA10575447	rs_121918487	11 SubmittersRCV000415499 RCV000560038 RCV000856727 RCV001729573 RCV003155177 RCV004737463
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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Multiple Submitters No Conflicts	CA16603309	rs_869025670	2 SubmittersRCV000417937 RCV002524730
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)	SNV Germline	Chr8:38413932	Conflicting classifications of pathogenicity	Condition: not provided Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome Trigonocephaly 1 Craniosynostosis syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia	Criteria Provided Conflicting Classifications	CA4718131	rs_201490643	4 SubmittersRCV000726653 RCV001078934 RCV001164854 RCV001164856 RCV001164857 RCV001164855
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	Criteria Provided Conflicting Classifications	CA4718332	rs_777345476	2 SubmittersRCV000481922 RCV002526617
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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia 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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia 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.232C>T (p.Arg78Cys)	SNV Germline	Chr8:38429808	Likely pathogenic	Condition: not provided Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia FGFR1-related disorder Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Multiple Submitters No Conflicts	CA370736382	rs_1554570706	5 SubmittersRCV000498444 RCV000704507 RCV004527604 RCV001004067
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)	SNV Germline	Chr8:38428408	Conflicting classifications of pathogenicity	Condition: not provided Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia 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	6 SubmittersRCV000523700 RCV001232531 RCV004796222
NM_023110.3(FGFR1):c.1430+1G>A	SNV Germline	Chr8:38418227	Pathogenic	Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Single Submitter	CA370733169	rs_1554552774	1 SubmittersRCV000552321
NM_023110.3(FGFR1):c.1854+19C>T	SNV Germline	Chr8:38415851	Conflicting classifications of pathogenicity	Condition: not provided Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia FGFR1-related disorder	Criteria Provided Conflicting Classifications	CA4718477	rs_56174879	5 SubmittersRCV000592343 RCV002062027 RCV004543338
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=)	SNV Germline	Chr8:38414600	Conflicting classifications of pathogenicity	Condition: not provided Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia 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	Criteria Provided Conflicting Classifications	CA4718065	rs_17182463	5 SubmittersRCV000644522 RCV001159834 RCV001159835 RCV001159836 RCV001159837 RCV002060753 RCV004533371
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 Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome Craniosynostosis syndrome Osteoglophonic dysplasia FGFR1-related disorder	Criteria Provided Conflicting Classifications		rs_147482922	4 SubmittersRCV000711645 RCV001158598 RCV001165323 RCV001483664 RCV001165322 RCV001165324 RCV004544956
NM_023110.3(FGFR1):c.448+1G>A	SNV Germline	Chr8:38428345	Likely pathogenic	Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia 7 conditions Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_376416531	3 SubmittersRCV000810317 RCV002507407 RCV004596350
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)	SNV Germline	Chr8:38419548	Conflicting classifications of pathogenicity	Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Condition: not provided	Criteria Provided Conflicting Classifications		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	Criteria Provided Conflicting Classifications		rs_780009859	2 SubmittersRCV001162901 RCV001162902 RCV001162903 RCV001162904 RCV002064519
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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201773631	5 SubmittersRCV000868644 RCV001160068 RCV001160069 RCV001160070 RCV001160071 RCV001497484 RCV002539010
NM_023110.3(FGFR1):c.937-6T>G	SNV Germline	Chr8:38421947	Conflicting classifications of pathogenicity	Condition: not provided Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374904700	3 SubmittersRCV000981734 RCV001504884 RCV002549574
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		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	Craniosynostosis syndrome Trigonocephaly 1 Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Conflicting Classifications		rs_377620009	2 SubmittersRCV001161240 RCV001161241 RCV001161243 RCV001161242 RCV001859044
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		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 Craniosynostosis syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Trigonocephaly 1 Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Conflicting Classifications		rs_1370490922	2 SubmittersRCV001165096 RCV001165095 RCV001165093 RCV001165094 RCV003769796
NM_023110.3(FGFR1):c.741C>T (p.Val247=)	SNV Germline	Chr8:38426126	Conflicting classifications of pathogenicity	Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications		rs_745325958	2 SubmittersRCV001158384 RCV001158382 RCV001158383 RCV001423260 RCV001158385
NM_023110.3(FGFR1):c.274G>A (p.Val92Met)	SNV Germline	Chr8:38429766	Conflicting classifications of pathogenicity	Trigonocephaly 1 Osteoglophonic dysplasia Hypogonadotropic hypogonadism 2 with or without anosmia Craniosynostosis syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome FGFR1-related disorder	Criteria Provided Conflicting Classifications		rs_755828990	3 SubmittersRCV001163225 RCV001163226 RCV001165321 RCV001163227 RCV002557393 RCV004538383
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)	SNV Germline	Chr8:38457379	Conflicting classifications of pathogenicity	Trigonocephaly 1 Craniosynostosis syndrome 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		rs_143341876	3 SubmittersRCV001161823 RCV001161821 RCV001161822 RCV001163335 RCV003319443 RCV003769778
NM_023110.3(FGFR1):c.937-14G>A	SNV Germline	Chr8:38421955	Conflicting classifications of pathogenicity	Encephalocraniocutaneous lipomatosis Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Conflicting Classifications		rs_779223305	2 SubmittersRCV001198090 RCV003770214
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly)	SNV Germline	Chr8:38417377	Likely pathogenic	Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Single Submitter		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		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		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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications		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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_780944776	2 SubmittersRCV001499467 RCV004774451
NM_023110.3(FGFR1):c.448+1G>C	SNV Germline	Chr8:38428345	Conflicting classifications of pathogenicity	Condition: not provided Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome 7 conditions	Criteria Provided Conflicting Classifications		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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications		rs_746602135	2 SubmittersRCV001582193 RCV001866204
NM_023110.3(FGFR1):c.2049-12G>A	SNV Germline	Chr8:38414301	Conflicting classifications of pathogenicity	Condition: not provided Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications		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	Criteria Provided Conflicting Classifications		rs_1815818452	3 SubmittersRCV001732716 RCV002051952 RCV003771891
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		rs_759376422	3 SubmittersRCV001756402 RCV002506757 RCV003771910
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		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 Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Multiple Submitters No Conflicts		rs_776264072	4 SubmittersRCV001822020 RCV002541949 RCV003147684
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		rs_201574031	4 SubmittersRCV001906268 RCV002267642 RCV002509716 RCV004741134
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		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		rs_752627281	2 SubmittersRCV002040746 RCV002492357
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)	SNV Germline	Chr8:38414834	Pathogenic	Hartsfield-Bixler-Demyer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts			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			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			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			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			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			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 FGFR1-related disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV003234594 RCV002834533 RCV004545401
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			1 SubmittersRCV002982719
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)	SNV Germline	Chr8:38414559	Pathogenic	Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003014891
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			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			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			1 SubmittersRCV003781089
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			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	Criteria Provided Conflicting Classifications			2 SubmittersRCV003801112 RCV004596608
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)	SNV Germline	Chr8:38428010	Likely pathogenic	Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003817675
NM_023110.3(FGFR1):c.745+1G>T	SNV Germline	Chr8:38426121	Likely pathogenic	Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome	Criteria Provided Single Submitter			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			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			1 SubmittersRCV003807496
NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)	SNV Germline	Chr10:121517460	Conflicting classifications of pathogenicity	Pfeiffer syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003988759 RCV004794670
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)	SNV Germline	Chr10:121485494	Likely pathogenic	Pfeiffer syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003989002
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe)	SNV Germline	Chr10:121515280	Likely pathogenic	Pfeiffer syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004017205
NM_023110.3(FGFR1):c.449-1G>A	SNV Germline	Chr8:38428094	Likely pathogenic	Pfeiffer syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004546880

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280168

rs_121918487

16 SubmittersRCV000014173 RCV000014174 RCV000547490 RCV000762801 RCV001090933 RCV001196204 RCV001730471 RCV004795406

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
Condition: not provided
Pfeiffer syndrome
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256746

rs_121918488

5 SubmittersRCV000014181 RCV000014182 RCV000014183 RCV000490034 RCV000415484 RCV000655416

NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)

SNV
Germline

Chr10:121517371

Pathogenic

Crouzon syndrome
Craniosynostosis, nonclassifiable autosomal dominant
Scaphocephaly and axenfeld-rieger anomaly
Craniosynostosis syndrome
11 conditions
FGFR2-related craniosynostosis
Acrocephalosyndactyly type I
Pfeiffer syndrome
Condition: not provided
11 conditions
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122983

rs_121918491

12 SubmittersRCV000014184 RCV000014185 RCV000014186 RCV000192353 RCV000762800 RCV000686210 RCV002247335 RCV002250460 RCV001579726 RCV002482864 RCV002280092

NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)

SNV
Germline

Chr10:121517372

Pathogenic

Jackson-Weiss syndrome
Crouzon syndrome
FGFR2-related craniosynostosis
Pfeiffer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA280171

rs_121918492

3 SubmittersRCV000014187 RCV000014188 RCV001851846 RCV003313919

NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)

SNV
Germline

Chr10:121517363

Pathogenic/Likely pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
22 conditions
Condition: not provided
Pfeiffer syndrome
Meier-Gorlin syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA280173

rs_121918494

9 SubmittersRCV000014190 RCV000655421 RCV000626619 RCV000726654 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
Pfeiffer syndrome
11 conditions
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122985

rs_79184941

34 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000552015 RCV002476961 RCV004527288 RCV004795407 RCV004532334

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

6 SubmittersRCV000014194 RCV001037961 RCV001781263

NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)

SNV
Germline

Chr10:121520052

Pathogenic

Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA280178

rs_121918497

6 SubmittersRCV000014196 RCV000014197 RCV000415509 RCV001572560 RCV001217538

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
FGFR2-related craniosynostosis
Condition: not provided
FGFR2-related disorder
Pfeiffer syndrome
Crouzon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA122991

rs_121918502

11 SubmittersRCV000014208 RCV000014209 RCV000528973 RCV000256107 RCV004737152 RCV000415503 RCV003313920

NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)

SNV
Germline/somatic

Chr10:121520119

Pathogenic

Pfeiffer syndrome
Crouzon syndrome
FGFR2-related craniosynostosis
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA210548

rs_121918505

6 SubmittersRCV000014213 RCV000408850 RCV000690962 RCV000435703 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

Familial scaphocephaly syndrome, McGillivray type
Crouzon syndrome
Pfeiffer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA122996

rs_121918507

3 SubmittersRCV000014221 RCV000014220 RCV003988821 RCV004760330

NM_000141.5(FGFR2):c.1084+3A>G

SNV
Germline

Chr10:121517316

Pathogenic

Pfeiffer syndrome
Crouzon syndrome
FGFR2-related craniosynostosis
Crouzon syndrome
Pfeiffer syndrome
Acrocephalosyndactyly type I
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

Jackson-Weiss syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
7 conditions
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Multiple Submitters
No Conflicts

CA280217

rs_121909627

10 SubmittersRCV000017670 RCV000017669 RCV000644520 RCV001200303 RCV002496391 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

Criteria Provided
Multiple Submitters
No Conflicts

CA185882

rs_121909628

7 SubmittersRCV000030926 RCV000156953 RCV000156954 RCV000760399 RCV002513084 RCV004584329

NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)

SNV
Germline

Chr8:38424546

Conflicting classifications of pathogenicity

Trigonocephaly 1
not specified
Condition: not provided
7 conditions
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder

Criteria Provided
Conflicting Classifications

CA126355

rs_121909633

13 SubmittersRCV000017681 RCV000502492 RCV000514891 RCV000766015 RCV001407682 RCV004532374

NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)

SNV
Germline

Chr8:38419676

Pathogenic/Likely pathogenic

Osteoglophonic dysplasia
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

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
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

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
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Conflicting Classifications

rs_267606806

2 SubmittersRCV003234553 RCV001857786

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.1663+9C>T

SNV
Germline

Chr8:38417297

Conflicting classifications of pathogenicity

Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

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
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10581214

rs_876661334

8 SubmittersRCV000223775 RCV001562405 RCV000995547 RCV003765451 RCV004782316

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

Criteria Provided
Conflicting Classifications

CA4718852

rs_561300213

2 SubmittersRCV000323081 RCV002521956

NM_023110.3(FGFR1):c.615C>T (p.Gly205=)

SNV
Germline

Chr8:38427927

Conflicting classifications of pathogenicity

Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder

Criteria Provided
Conflicting Classifications

CA4718704

rs_781689191

3 SubmittersRCV000373182 RCV002059223 RCV004535389

NM_023110.3(FGFR1):c.2293-11G>A

SNV
Germline

Chr8:38413815

Conflicting classifications of pathogenicity

Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Trigonocephaly 1
Osteoglophonic dysplasia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Conflicting Classifications

CA10625389

rs_886062919

2 SubmittersRCV000294107 RCV000295326 RCV000333930 RCV000385866 RCV002058729

NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)

SNV
Germline

Chr8:38428379

Conflicting classifications of pathogenicity

Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Condition: not provided
Inborn genetic diseases
Trigonocephaly 1
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Conflicting Classifications

CA4718752

rs_201054877

4 SubmittersRCV000347374 RCV000289001 RCV000386920 RCV001584091 RCV002523679 RCV000391006 RCV001861321

NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)

SNV
Germline

Chr8:38418290

Conflicting classifications of pathogenicity

Osteoglophonic dysplasia
Trigonocephaly 1
Craniosynostosis syndrome
Craniosynostosis, nonspecific
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4718401

rs_200776757

9 SubmittersRCV000284766 RCV000343209 RCV000337400 RCV000408775 RCV000404673 RCV000703651 RCV001528843

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
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
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4718770

rs_185233212

5 SubmittersRCV000261182 RCV000332863 RCV000371147 RCV000301233 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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

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

Trigonocephaly 1
Craniosynostosis syndrome
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Conflicting Classifications

CA4718385

rs_763815221

2 SubmittersRCV000285905 RCV000328758 RCV000271401 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_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)

SNV
Germline

Chr10:121488055

Pathogenic/Likely pathogenic

Pfeiffer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043905

rs_1057519047

3 SubmittersRCV000415480 RCV000731782

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10575447

rs_121918487

11 SubmittersRCV000415499 RCV000560038 RCV000856727 RCV001729573 RCV003155177 RCV004737463

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Multiple Submitters
No Conflicts

CA16603309

rs_869025670

2 SubmittersRCV000417937 RCV002524730

NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)

SNV
Germline

Chr8:38413932

Conflicting classifications of pathogenicity

Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia

Criteria Provided
Conflicting Classifications

CA4718131

rs_201490643

4 SubmittersRCV000726653 RCV001078934 RCV001164854 RCV001164856 RCV001164857 RCV001164855

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

Criteria Provided
Conflicting Classifications

CA4718332

rs_777345476

2 SubmittersRCV000481922 RCV002526617

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
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.232C>T (p.Arg78Cys)

SNV
Germline

Chr8:38429808

Likely pathogenic

Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Multiple Submitters
No Conflicts

CA370736382

rs_1554570706

5 SubmittersRCV000498444 RCV000704507 RCV004527604 RCV001004067

NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)

SNV
Germline

Chr8:38428408

Conflicting classifications of pathogenicity

Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
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

6 SubmittersRCV000523700 RCV001232531 RCV004796222

NM_023110.3(FGFR1):c.1430+1G>A

SNV
Germline

Chr8:38418227

Pathogenic

Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Single Submitter

CA370733169

rs_1554552774

1 SubmittersRCV000552321

NM_023110.3(FGFR1):c.1854+19C>T

SNV
Germline

Chr8:38415851

Conflicting classifications of pathogenicity

Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder

Criteria Provided
Conflicting Classifications

CA4718477

rs_56174879

5 SubmittersRCV000592343 RCV002062027 RCV004543338

NM_023110.3(FGFR1):c.2007C>T (p.Pro669=)

SNV
Germline

Chr8:38414600

Conflicting classifications of pathogenicity

Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
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

Criteria Provided
Conflicting Classifications

CA4718065

rs_17182463

5 SubmittersRCV000644522 RCV001159834 RCV001159835 RCV001159836 RCV001159837 RCV002060753 RCV004533371

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
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Craniosynostosis syndrome
Osteoglophonic dysplasia
FGFR1-related disorder

Criteria Provided
Conflicting Classifications

rs_147482922

4 SubmittersRCV000711645 RCV001158598 RCV001165323 RCV001483664 RCV001165322 RCV001165324 RCV004544956

NM_023110.3(FGFR1):c.448+1G>A

SNV
Germline

Chr8:38428345

Likely pathogenic

Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
7 conditions
Pfeiffer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_376416531

3 SubmittersRCV000810317 RCV002507407 RCV004596350

NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)

SNV
Germline

Chr8:38419548

Conflicting classifications of pathogenicity

Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_780009859

2 SubmittersRCV001162901 RCV001162902 RCV001162903 RCV001162904 RCV002064519

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201773631

5 SubmittersRCV000868644 RCV001160068 RCV001160069 RCV001160070 RCV001160071 RCV001497484 RCV002539010

NM_023110.3(FGFR1):c.937-6T>G

SNV
Germline

Chr8:38421947

Conflicting classifications of pathogenicity

Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374904700

3 SubmittersRCV000981734 RCV001504884 RCV002549574

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

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

Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Conflicting Classifications

rs_377620009

2 SubmittersRCV001161240 RCV001161241 RCV001161243 RCV001161242 RCV001859044

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

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
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Conflicting Classifications

rs_1370490922

2 SubmittersRCV001165096 RCV001165095 RCV001165093 RCV001165094 RCV003769796

NM_023110.3(FGFR1):c.741C>T (p.Val247=)

SNV
Germline

Chr8:38426126

Conflicting classifications of pathogenicity

Osteoglophonic dysplasia
Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Conflicting Classifications

rs_745325958

2 SubmittersRCV001158384 RCV001158382 RCV001158383 RCV001423260 RCV001158385

NM_023110.3(FGFR1):c.274G>A (p.Val92Met)

SNV
Germline

Chr8:38429766

Conflicting classifications of pathogenicity

Trigonocephaly 1
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder

Criteria Provided
Conflicting Classifications

rs_755828990

3 SubmittersRCV001163225 RCV001163226 RCV001165321 RCV001163227 RCV002557393 RCV004538383

NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)

SNV
Germline

Chr8:38457379

Conflicting classifications of pathogenicity

Trigonocephaly 1
Craniosynostosis syndrome
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

rs_143341876

3 SubmittersRCV001161823 RCV001161821 RCV001161822 RCV001163335 RCV003319443 RCV003769778

NM_023110.3(FGFR1):c.937-14G>A

SNV
Germline

Chr8:38421955

Conflicting classifications of pathogenicity

Encephalocraniocutaneous lipomatosis
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Conflicting Classifications

rs_779223305

2 SubmittersRCV001198090 RCV003770214

NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly)

SNV
Germline

Chr8:38417377

Likely pathogenic

Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Single Submitter

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

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

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Conflicting Classifications

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780944776

2 SubmittersRCV001499467 RCV004774451

NM_023110.3(FGFR1):c.448+1G>C

SNV
Germline

Chr8:38428345

Conflicting classifications of pathogenicity

Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
7 conditions

Criteria Provided
Conflicting Classifications

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Conflicting Classifications

rs_746602135

2 SubmittersRCV001582193 RCV001866204

NM_023110.3(FGFR1):c.2049-12G>A

SNV
Germline

Chr8:38414301

Conflicting classifications of pathogenicity

Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_1815818452

3 SubmittersRCV001732716 RCV002051952 RCV003771891

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

rs_759376422

3 SubmittersRCV001756402 RCV002506757 RCV003771910

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

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
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia

Criteria Provided
Multiple Submitters
No Conflicts

rs_776264072

4 SubmittersRCV001822020 RCV002541949 RCV003147684

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

rs_201574031

4 SubmittersRCV001906268 RCV002267642 RCV002509716 RCV004741134

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

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

rs_752627281

2 SubmittersRCV002040746 RCV002492357

NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)

SNV
Germline

Chr8:38414834

Pathogenic

Hartsfield-Bixler-Demyer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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
FGFR1-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003234594 RCV002834533 RCV004545401

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

1 SubmittersRCV002982719

NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)

SNV
Germline

Chr8:38414559

Pathogenic

Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003014891

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

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

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

1 SubmittersRCV003781089

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003801112 RCV004596608

NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)

SNV
Germline

Chr8:38428010

Likely pathogenic

Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003817675

NM_023110.3(FGFR1):c.745+1G>T

SNV
Germline

Chr8:38426121

Likely pathogenic

Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003807496

NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)

SNV
Germline

Chr10:121517460

Conflicting classifications of pathogenicity

Pfeiffer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003988759 RCV004794670

NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)

SNV
Germline

Chr10:121485494

Likely pathogenic

Pfeiffer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003989002

NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe)

SNV
Germline

Chr10:121515280

Likely pathogenic

Pfeiffer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004017205

NM_023110.3(FGFR1):c.449-1G>A

SNV
Germline

Chr8:38428094

Likely pathogenic

Pfeiffer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004546880