Fgfr1 Variant Search Result - Rat Genome Database

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1001 records found for search term Fgfr1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150440848	CV1220225	single nucleotide variant	NM_023110.3(FGFR1):c.*66G>A	not provided [RCV001610208]	benign	8	38413562	38413562	Human		name
401918671	CV2800884	single nucleotide variant	NM_023110.3(FGFR1):c.-88G>T	FGFR1-related disorder [RCV004529833]\|not provided [RCV004786935]	uncertain significance	8	38457534	38457534	Human		name , alternate_id
11648082	CV305211	single nucleotide variant	NM_023110.3(FGFR1):c.*70C>T	Craniosynostosis syndrome [RCV000280193]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000374691]\|Osteoglophonic dysplasia [RCV000377820]\|Trigonocephaly 1 [RCV000283488]	uncertain significance	8	38413558	38413558	Human	5	name
11645954	CV314199	single nucleotide variant	NM_023110.3(FGFR1):c.*71A>G	Craniosynostosis syndrome [RCV000323143]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000326783]\|Osteoglophonic dysplasia [RCV000268297]\|Trigonocephaly 1 [RCV000362935]	uncertain significance	8	38413557	38413557	Human	5	name
11606755	CV314207	single nucleotide variant	NM_023110.3(FGFR1):c.*14G>A	Craniosynostosis syndrome [RCV000335152]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000295575]\|Osteoglophonic dysplasia [RCV000403057]\|Trigonocephaly 1 [RCV000403971]	likely benign\|uncertain significance	8	38413614	38413614	Human	5	name
405286405	CV3192756	single nucleotide variant	NM_023110.3(FGFR1):c.-21A>G	FGFR1-related disorder [RCV004540958]	likely benign	8	38457467	38457467	Human		name , trait , alternate_id
616934358	CV4012356	single nucleotide variant	NM_023110.3(FGFR1):c.-33G>A	not specified [RCV005409392]	uncertain significance	8	38457479	38457479	Human		name
13520521	CV495383	single nucleotide variant	NM_023110.3(FGFR1):c.-78A>T	not provided [RCV000598701]	uncertain significance	8	38457524	38457524	Human		name
156113642	CV2039107	single nucleotide variant	NM_023110.3(FGFR1):c.92-6C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002785502]\|Inborn genetic diseases [RCV002766800]	likely benign\|uncertain significance	8	38429954	38429954	Human	2	name
329953696	CV2670423	single nucleotide variant	NM_023110.3(FGFR1):c.92-1G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234728]	pathogenic	8	38429949	38429949	Human	1	name
401925806	CV2821030	single nucleotide variant	NM_023110.3(FGFR1):c.*220T>C	not provided [RCV003436866]	likely benign	8	38413408	38413408	Human		name
11602295	CV305210	single nucleotide variant	NM_023110.3(FGFR1):c.*723G>C	Craniosynostosis syndrome [RCV000388747]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000349336]\|Osteoglophonic dysplasia [RCV000384167]\|Trigonocephaly 1 [RCV000294428]	benign\|likely benign	8	38412905	38412905	Human	5	name
11600677	CV305229	single nucleotide variant	NM_023110.3(FGFR1):c.-636C>T	Craniosynostosis syndrome [RCV000275562]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000276380]\|Osteoglophonic dysplasia [RCV000370929]\|Trigonocephaly 1 [RCV000326643]\|not provided [RCV004712579]	benign	8	38468528	38468528	Human	9	name
11600677	CV305229	single nucleotide variant	NM_023110.3(FGFR1):c.-636C>T	Craniosynostosis syndrome [RCV000275562]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000276380]\|Osteoglophonic dysplasia [RCV000370929]\|Trigonocephaly 1 [RCV000326643]\|not provided [RCV004712579]	benign	8	38468528	38468529	Human	9	name
11599862	CV308968	single nucleotide variant	NM_023110.3(FGFR1):c.*958G>A	Craniosynostosis syndrome [RCV000378790]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000284410]\|Osteoglophonic dysplasia [RCV000320293]\|Trigonocephaly 1 [RCV000324294]	uncertain significance	8	38412670	38412670	Human	5	name
11599050	CV308969	single nucleotide variant	NM_023110.3(FGFR1):c.*494A>G	Craniosynostosis syndrome [RCV000302477]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000357211]\|Osteoglophonic dysplasia [RCV000262307]\|Trigonocephaly 1 [RCV000353718]	benign\|likely benign\|uncertain significance	8	38413134	38413134	Human	5	name
11648867	CV308987	single nucleotide variant	NM_023110.3(FGFR1):c.*313T>C	Craniosynostosis syndrome [RCV000287737]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000342750]\|Osteoglophonic dysplasia [RCV000284350]\|Trigonocephaly 1 [RCV000378862]	uncertain significance	8	38413315	38413315	Human	5	name
11604702	CV309019	single nucleotide variant	NM_023110.2(FGFR1):c.-853G>C	Craniosynostosis syndrome [RCV000405118]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000366748]\|Osteoglophonic dysplasia [RCV000312183]\|Trigonocephaly 1 [RCV000313718]\|not provided [RCV003422358]	likely benign\|uncertain significance	8	38468745	38468745	Human	5	name
11599423	CV309020	single nucleotide variant	NM_023110.2(FGFR1):c.-881G>A	Craniosynostosis syndrome [RCV000265646]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000328988]\|Osteoglophonic dysplasia [RCV000269164]\|Trigonocephaly 1 [RCV000320755]	benign\|likely benign	8	38468773	38468773	Human	5	name
11644427	CV314185	single nucleotide variant	NM_023110.3(FGFR1):c.*762A>G	Craniosynostosis syndrome [RCV000334242]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000373495]\|Osteoglophonic dysplasia [RCV000318855]\|Trigonocephaly 1 [RCV000263722]	uncertain significance	8	38412866	38412866	Human	5	name
11604065	CV314186	single nucleotide variant	NM_023110.3(FGFR1):c.*569C>T	Craniosynostosis syndrome [RCV000306067]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000394294]\|Osteoglophonic dysplasia [RCV000342206]\|Trigonocephaly 1 [RCV000402963]\|not provided [RCV002058728]	benign\|likely benign	8	38413059	38413059	Human	5	name
11600306	CV314189	single nucleotide variant	NM_023110.3(FGFR1):c.*963C>T	Craniosynostosis syndrome [RCV000363531]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000327578]\|Osteoglophonic dysplasia [RCV000312796]\|Trigonocephaly 1 [RCV000367186]	benign\|likely benign	8	38412665	38412665	Human	5	name
11647003	CV314193	single nucleotide variant	NM_023110.3(FGFR1):c.*313T>G	Craniosynostosis syndrome [RCV000327679]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000274060]\|Osteoglophonic dysplasia [RCV000332565]\|Trigonocephaly 1 [RCV000277440]	uncertain significance	8	38413315	38413315	Human	5	name
11648135	CV314194	single nucleotide variant	NM_023110.3(FGFR1):c.*913G>A	Craniosynostosis syndrome [RCV000280453]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000374885]\|Osteoglophonic dysplasia [RCV000335540]\|Trigonocephaly 1 [RCV000406093]	uncertain significance	8	38412715	38412715	Human	5	name
11604529	CV314195	single nucleotide variant	NM_023110.3(FGFR1):c.*906A>T	Craniosynostosis syndrome [RCV000405245]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000395349]\|Osteoglophonic dysplasia [RCV000350889]\|Trigonocephaly 1 [RCV000365281]\|not provided [RCV003437141]	benign\|likely benign\|uncertain significance	8	38412722	38412722	Human	5	name
11645692	CV314196	single nucleotide variant	NM_023110.3(FGFR1):c.*845T>C	Craniosynostosis syndrome [RCV000322103]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000358204]\|Osteoglophonic dysplasia [RCV000266916]\|Trigonocephaly 1 [RCV000361593]	uncertain significance	8	38412783	38412783	Human	5	name
11651446	CV314201	single nucleotide variant	NM_023110.3(FGFR1):c.*118C>T	Craniosynostosis syndrome [RCV000335471]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000299205]\|Osteoglophonic dysplasia [RCV000405652]\|Trigonocephaly 1 [RCV000404826]	uncertain significance	8	38413510	38413510	Human	5	name
11600590	CV314204	single nucleotide variant	NM_023110.3(FGFR1):c.*113G>A	Craniosynostosis syndrome [RCV000274882]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000311229]\|Osteoglophonic dysplasia [RCV000365921]\|Trigonocephaly 1 [RCV000369535]	benign\|likely benign	8	38413515	38413515	Human	5	name
11645857	CV314217	single nucleotide variant	NM_023110.3(FGFR1):c.91+6G>T	Craniosynostosis syndrome [RCV000267795]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000376397]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001069697]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003483607]\|Osteoglophonic dysplasia [RCV000271846]\|Trigon ... (more) ocephaly 1 [RCV000322225]	uncertain significance\|not provided	8	38457350	38457350	Human	5	name
11604885	CV314219	single nucleotide variant	NM_023110.3(FGFR1):c.-124G>A	Craniosynostosis syndrome [RCV000345233]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000403834]\|Osteoglophonic dysplasia [RCV000348755]\|Trigonocephaly 1 [RCV000313786]	benign\|likely benign	8	38468016	38468016	Human	5	name
11599459	CV314220	single nucleotide variant	NM_023110.3(FGFR1):c.-270G>A	Craniosynostosis syndrome [RCV000310087]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000305775]\|Osteoglophonic dysplasia [RCV000360487]\|Trigonocephaly 1 [RCV000364788]	likely benign\|uncertain significance	8	38468162	38468162	Human	5	name
11602035	CV314222	single nucleotide variant	NM_023110.3(FGFR1):c.-338T>G	Craniosynostosis syndrome [RCV000386086]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000382798]\|Osteoglophonic dysplasia [RCV000296562]\|Trigonocephaly 1 [RCV000332833]	likely benign\|uncertain significance	8	38468230	38468230	Human	5	name
11603584	CV314223	single nucleotide variant	NM_023110.3(FGFR1):c.-385G>A	Craniosynostosis syndrome [RCV000304934]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000403555]\|Osteoglophonic dysplasia [RCV000355172]\|Trigonocephaly 1 [RCV000301256]\|not provided [RCV001692057]	benign	8	38468277	38468277	Human	5	name
11602522	CV314228	single nucleotide variant	NM_023110.3(FGFR1):c.-699C>T	Craniosynostosis syndrome [RCV000291768]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000283582]\|Osteoglophonic dysplasia [RCV000381314]\|Trigonocephaly 1 [RCV000328004]\|not specified [RCV000757292]	benign	8	38468591	38468591	Human	5	name
11599052	CV314231	single nucleotide variant	NM_023110.3(FGFR1):c.-286C>T	Craniosynostosis syndrome [RCV000262308]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000260966]\|Osteoglophonic dysplasia [RCV000316240]\|Trigonocephaly 1 [RCV000375686]\|not provided [RCV003311792]	benign\|likely benign	8	38468178	38468178	Human	5	name
11601657	CV314237	single nucleotide variant	NM_023110.3(FGFR1):c.-358C>T	Craniosynostosis syndrome [RCV000283903]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000402518]\|Osteoglophonic dysplasia [RCV000392438]\|Trigonocephaly 1 [RCV000347194]\|not provided [RCV001785600]	benign\|likely benign	8	38468250	38468250	Human	5	name
11600920	CV314238	single nucleotide variant	NM_023110.2(FGFR1):c.-751C>T	Craniosynostosis syndrome [RCV000278211]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000337915]\|Osteoglophonic dysplasia [RCV000391766]\|Trigonocephaly 1 [RCV000341549]\|not provided [RCV004712580]	benign	8	38468643	38468643	Human	5	name
14695926	CV622508	single nucleotide variant	NM_023110.3(FGFR1):c.91+1G>A	not provided [RCV000785153]	pathogenic	8	38457355	38457355	Human		name
28907237	CV899470	single nucleotide variant	NM_023110.3(FGFR1):c.*994T>C	Craniosynostosis syndrome [RCV001159403]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159405]\|Osteoglophonic dysplasia [RCV001159404]\|Trigonocephaly 1 [RCV001160773]\|not provided [RCV004712965]	benign	8	38412634	38412634	Human	5	name
28909645	CV899471	single nucleotide variant	NM_023110.3(FGFR1):c.*991G>A	Craniosynostosis syndrome [RCV001160774]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160776]\|Osteoglophonic dysplasia [RCV001160777]\|Trigonocephaly 1 [RCV001160775]\|not provided [RCV004695029]	uncertain significance	8	38412637	38412637	Human	5	name
28868289	CV899472	single nucleotide variant	NM_023110.3(FGFR1):c.*957C>T	Craniosynostosis syndrome [RCV001164445]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162397]\|Osteoglophonic dysplasia [RCV001162396]\|Trigonocephaly 1 [RCV001162398]	uncertain significance	8	38412671	38412671	Human	5	name
28872547	CV899473	single nucleotide variant	NM_023110.3(FGFR1):c.*928G>A	Craniosynostosis syndrome [RCV001164448]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164447]\|Osteoglophonic dysplasia [RCV001164446]\|Trigonocephaly 1 [RCV001164449]	uncertain significance	8	38412700	38412700	Human	5	name
28909806	CV899474	single nucleotide variant	NM_023110.3(FGFR1):c.*819T>G	Craniosynostosis syndrome [RCV001160890]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160888]\|Osteoglophonic dysplasia [RCV001160889]\|Trigonocephaly 1 [RCV001160891]	uncertain significance	8	38412809	38412809	Human	5	name
28868453	CV899475	single nucleotide variant	NM_023110.3(FGFR1):c.*802C>T	Craniosynostosis syndrome [RCV001160893]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162502]\|Osteoglophonic dysplasia [RCV001160892]\|Trigonocephaly 1 [RCV001160894]	uncertain significance	8	38412826	38412826	Human	5	name
28907581	CV899476	single nucleotide variant	NM_023110.3(FGFR1):c.*391C>T	Craniosynostosis syndrome [RCV001159623]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159624]\|Osteoglophonic dysplasia [RCV001159621]\|Trigonocephaly 1 [RCV001159622]	uncertain significance	8	38413237	38413237	Human	5	name
28907584	CV899477	single nucleotide variant	NM_023110.3(FGFR1):c.*345T>A	Craniosynostosis syndrome [RCV001159626]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159625]\|Osteoglophonic dysplasia [RCV001161008]\|Trigonocephaly 1 [RCV001159627]	uncertain significance	8	38413283	38413283	Human	5	name
28868608	CV899478	single nucleotide variant	NM_023110.3(FGFR1):c.*262C>T	Craniosynostosis syndrome [RCV001162593]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162594]\|Osteoglophonic dysplasia [RCV001162595]\|Trigonocephaly 1 [RCV001162592]	uncertain significance	8	38413366	38413366	Human	5	name
28868611	CV899479	single nucleotide variant	NM_023110.3(FGFR1):c.*252G>A	Craniosynostosis syndrome [RCV001162597]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162596]\|Osteoglophonic dysplasia [RCV001164651]\|Trigonocephaly 1 [RCV001162598]	uncertain significance	8	38413376	38413376	Human	5	name
28872969	CV899480	single nucleotide variant	NM_023110.3(FGFR1):c.*231C>T	Craniosynostosis syndrome [RCV001164652]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164654]\|Osteoglophonic dysplasia [RCV001164655]\|Trigonocephaly 1 [RCV001164653]	uncertain significance	8	38413397	38413397	Human	5	name
28872975	CV899481	single nucleotide variant	NM_023110.3(FGFR1):c.*212G>A	Craniosynostosis syndrome [RCV001164657]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159731]\|Osteoglophonic dysplasia [RCV001164656]\|Trigonocephaly 1 [RCV001164658]	uncertain significance	8	38413416	38413416	Human	5	name
28907792	CV899482	single nucleotide variant	NM_023110.3(FGFR1):c.*203G>A	Craniosynostosis syndrome [RCV001159733]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159734]\|Osteoglophonic dysplasia [RCV001159735]\|Trigonocephaly 1 [RCV001159732]	uncertain significance	8	38413425	38413425	Human	5	name
28868766	CV899483	single nucleotide variant	NM_023110.3(FGFR1):c.*112C>T	Craniosynostosis syndrome [RCV001161132]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001161133]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002483911]\|Osteoglophonic dysplasia [RCV001162695]\|Trigonocephaly 1 [RCV001161134]	uncertain significance	8	38413516	38413516	Human	5	name
28869975	CV899494	single nucleotide variant	NM_023110.3(FGFR1):c.-116C>T	Craniosynostosis syndrome [RCV001163337]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163338]\|Osteoglophonic dysplasia [RCV001163339]\|Trigonocephaly 1 [RCV001163336]	uncertain significance	8	38468008	38468008	Human	5	name
28869982	CV899495	single nucleotide variant	NM_023110.3(FGFR1):c.-117C>G	Craniosynostosis syndrome [RCV001163341]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163342]\|Osteoglophonic dysplasia [RCV001165439]\|Trigonocephaly 1 [RCV001163340]	uncertain significance	8	38468009	38468009	Human	5	name
28874620	CV899496	single nucleotide variant	NM_023110.3(FGFR1):c.-209G>C	Craniosynostosis syndrome [RCV001165440]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001158711]\|Osteoglophonic dysplasia [RCV001165441]\|Trigonocephaly 1 [RCV001165442]	benign\|likely benign	8	38468101	38468101	Human	5	name
28905959	CV899497	single nucleotide variant	NM_023110.3(FGFR1):c.-263G>C	Craniosynostosis syndrome [RCV001158713]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001158714]\|Osteoglophonic dysplasia [RCV001158715]\|Trigonocephaly 1 [RCV001158712]	uncertain significance	8	38468155	38468155	Human	5	name
28867508	CV899498	single nucleotide variant	NM_023110.3(FGFR1):c.-278C>A	Craniosynostosis syndrome [RCV001161925]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001161924]\|Osteoglophonic dysplasia [RCV001161927]\|Trigonocephaly 1 [RCV001161926]	uncertain significance	8	38468170	38468170	Human	5	name
28870244	CV899499	single nucleotide variant	NM_023110.3(FGFR1):c.-320C>T	Craniosynostosis syndrome [RCV001163447]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163450]\|Osteoglophonic dysplasia [RCV001163449]\|Trigonocephaly 1 [RCV001163448]	uncertain significance	8	38468212	38468212	Human	5	name
28906169	CV899500	single nucleotide variant	NM_023110.3(FGFR1):c.-413G>A	Craniosynostosis syndrome [RCV001158825]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001158822]\|Osteoglophonic dysplasia [RCV001158823]\|Trigonocephaly 1 [RCV001158824]	uncertain significance	8	38468305	38468305	Human	5	name
28906172	CV899501	single nucleotide variant	NM_023110.3(FGFR1):c.-434G>A	Craniosynostosis syndrome [RCV001158828]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160166]\|Osteoglophonic dysplasia [RCV001158827]\|Trigonocephaly 1 [RCV001158826]	uncertain significance	8	38468326	38468326	Human	5	name
28908569	CV899502	single nucleotide variant	NM_023110.3(FGFR1):c.-444C>T	Craniosynostosis syndrome [RCV001160168]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160170]\|Osteoglophonic dysplasia [RCV001160167]\|Trigonocephaly 1 [RCV001160169]	uncertain significance	8	38468336	38468336	Human	5	name
28870504	CV899503	single nucleotide variant	NM_023110.3(FGFR1):c.-466C>T	Craniosynostosis syndrome [RCV001160173]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163551]\|Osteoglophonic dysplasia [RCV001160172]\|Trigonocephaly 1 [RCV001160171]	uncertain significance	8	38468358	38468358	Human	5	name
28870506	CV899504	single nucleotide variant	NM_023110.3(FGFR1):c.-522G>T	Craniosynostosis syndrome [RCV001163553]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163554]\|Osteoglophonic dysplasia [RCV001163552]\|Trigonocephaly 1 [RCV001163555]	uncertain significance	8	38468414	38468414	Human	5	name
28870516	CV899505	single nucleotide variant	NM_023110.3(FGFR1):c.-552C>G	Craniosynostosis syndrome [RCV001163558]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163850]\|Osteoglophonic dysplasia [RCV001163556]\|Trigonocephaly 1 [RCV001163557]	uncertain significance	8	38468444	38468444	Human	5	name
28871184	CV899506	single nucleotide variant	NM_023110.3(FGFR1):c.-555G>A	Craniosynostosis syndrome [RCV001163851]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163852]\|Osteoglophonic dysplasia [RCV001163854]\|Trigonocephaly 1 [RCV001163853]	uncertain significance	8	38468447	38468447	Human	5	name
28871190	CV899507	single nucleotide variant	NM_023110.3(FGFR1):c.-578A>C	Craniosynostosis syndrome [RCV001163856]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163857]\|Osteoglophonic dysplasia [RCV001163855]\|Trigonocephaly 1 [RCV001158932]\|not provided [RCV003425963]	likely benign\|uncertain significance	8	38468470	38468470	Human	5	name
28908784	CV899508	single nucleotide variant	NM_023110.3(FGFR1):c.-717C>T	Craniosynostosis syndrome [RCV001160270]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160267]\|Osteoglophonic dysplasia [RCV001160268]\|Trigonocephaly 1 [RCV001160269]	uncertain significance	8	38468609	38468609	Human	5	name
28870726	CV899509	single nucleotide variant	NM_023110.3(FGFR1):c.-741A>G	Craniosynostosis syndrome [RCV001160272]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160271]\|Osteoglophonic dysplasia [RCV001160273]\|Trigonocephaly 1 [RCV001163638]	uncertain significance	8	38468633	38468633	Human	5	name
28870730	CV899510	single nucleotide variant	NM_023110.2(FGFR1):c.-747C>G	Craniosynostosis syndrome [RCV001163639]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163641]\|Osteoglophonic dysplasia [RCV001163642]\|Trigonocephaly 1 [RCV001163640]	uncertain significance	8	38468639	38468639	Human	5	name
28871432	CV899511	single nucleotide variant	NM_023110.2(FGFR1):c.-755C>G	Craniosynostosis syndrome [RCV001163952]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159024]\|Osteoglophonic dysplasia [RCV001163953]\|Trigonocephaly 1 [RCV001163954]	uncertain significance	8	38468647	38468647	Human	5	name
28906563	CV899512	single nucleotide variant	NM_023110.2(FGFR1):c.-849C>A	Craniosynostosis syndrome [RCV001159026]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159025]\|Osteoglophonic dysplasia [RCV001159027]\|Trigonocephaly 1 [RCV001159028]	uncertain significance	8	38468741	38468741	Human	5	name
28905756	CV900487	single nucleotide variant	NM_023110.3(FGFR1):c.92-3C>T	Craniosynostosis syndrome [RCV001158600]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001158601]\|Osteoglophonic dysplasia [RCV001158599]\|Trigonocephaly 1 [RCV001158602]	uncertain significance	8	38429951	38429951	Human	5	name
126727585	CV1017051	single nucleotide variant	NM_023110.3(FGFR1):c.358+2T>C	Hartsfield-Bixler-Demyer syndrome [RCV001332495]\|not provided [RCV005235566]	likely pathogenic\|uncertain significance	8	38429680	38429680	Human	1	name
126732691	CV1028545	single nucleotide variant	NM_023110.3(FGFR1):c.746-5C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001349647]	likely benign\|uncertain significance	8	38424704	38424704	Human	1	name
126910635	CV1053644	single nucleotide variant	NM_023110.3(FGFR1):c.745+2T>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001375868]	likely pathogenic	8	38426120	38426120	Human	1	name
127302887	CV1139481	single nucleotide variant	NM_023110.3(FGFR1):c.359-9T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001479085]	likely benign	8	38428444	38428444	Human	1	name
127313031	CV1155958	single nucleotide variant	NM_023110.3(FGFR1):c.449-8C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001519132]	benign	8	38428101	38428101	Human	1	name
150427699	CV1187347	single nucleotide variant	NM_023110.3(FGFR1):c.448+1G>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001882653]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002476862]\|not provided [RCV001561278]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	38428345	38428345	Human	1	name
150421273	CV1197793	single nucleotide variant	NM_023110.3(FGFR1):c.91+57G>A	not provided [RCV001577965]	likely benign	8	38457299	38457299	Human		name
150486077	CV1262224	single nucleotide variant	NM_023110.3(FGFR1):c.92-89G>A	not provided [RCV001686915]	benign	8	38430037	38430037	Human		name
151875349	CV1397070	single nucleotide variant	NM_023110.3(FGFR1):c.621+4C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001940325]\|not specified [RCV004690174]	uncertain significance	8	38427917	38427917	Human	1	name
151873532	CV1429817	single nucleotide variant	NM_023110.3(FGFR1):c.622-2A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001998653]	likely pathogenic	8	38426247	38426247	Human	1	name
152056746	CV1523087	single nucleotide variant	NM_023110.3(FGFR1):c.92-14C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002167534]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002494046]	benign\|likely benign	8	38429962	38429962	Human	1	name
152052106	CV1538929	single nucleotide variant	NM_023110.3(FGFR1):c.92-13G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002189541]	likely benign	8	38429961	38429961	Human	1	name
152092529	CV1567798	single nucleotide variant	NM_023110.3(FGFR1):c.92-20C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002212924]	likely benign	8	38429968	38429968	Human	1	name
152037656	CV1596417	single nucleotide variant	NM_023110.3(FGFR1):c.937-4C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002125610]	likely benign	8	38421945	38421945	Human	1	name
152982203	CV1677157	single nucleotide variant	NM_023110.3(FGFR1):c.358+4G>A	not specified [RCV002248861]	benign	8	38429678	38429678	Human		name
155714475	CV1760351	single nucleotide variant	NM_023110.3(FGFR1):c.449-6G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003101708]\|not provided [RCV002300857]	likely pathogenic\|uncertain significance	8	38428099	38428099	Human	1	name
155948123	CV1869091	single nucleotide variant	NM_023110.3(FGFR1):c.91+20C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003073981]	likely benign	8	38457336	38457336	Human	1	name
156119485	CV1923965	single nucleotide variant	NM_023110.3(FGFR1):c.92-13G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002640255]	likely benign	8	38429961	38429961	Human	1	name
156230157	CV1955960	single nucleotide variant	NM_023110.3(FGFR1):c.621+5G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002575841]	uncertain significance	8	38427916	38427916	Human	1	name
156086735	CV2034116	single nucleotide variant	NM_023110.3(FGFR1):c.91+19G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002760802]	likely benign	8	38457337	38457337	Human	1	name
156198885	CV2169602	single nucleotide variant	NM_023110.3(FGFR1):c.936+7A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003041901]	likely benign	8	38424502	38424502	Human	1	name
329354919	CV2473301	single nucleotide variant	NM_023110.3(FGFR1):c.*1111C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003221345]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005356380]	likely pathogenic\|uncertain significance	8	38412517	38412517	Human	1	name
401913189	CV2801621	single nucleotide variant	NM_023110.3(FGFR1):c.*1069C>T	FGFR1-related disorder [RCV004529275]	uncertain significance	8	38412559	38412559	Human		name , trait , alternate_id
401902055	CV2804041	single nucleotide variant	NM_023110.3(FGFR1):c.448+1G>T	FGFR1-related disorder [RCV004531726]	uncertain significance	8	38428345	38428345	Human		name , trait , alternate_id
401925805	CV2821029	single nucleotide variant	NM_023110.3(FGFR1):c.*1046A>G	not provided [RCV003436865]	uncertain significance	8	38412582	38412582	Human		name
11599566	CV305196	single nucleotide variant	NM_023110.3(FGFR1):c.*1770G>A	Craniosynostosis syndrome [RCV000358861]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000320348]\|Osteoglophonic dysplasia [RCV000380948]\|Trigonocephaly 1 [RCV000266477]	benign\|likely benign	8	38411858	38411858	Human	5	name
11648719	CV305197	single nucleotide variant	NM_023110.3(FGFR1):c.*1286C>T	Craniosynostosis syndrome [RCV000375655]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000402893]\|Osteoglophonic dysplasia [RCV000340836]\|Trigonocephaly 1 [RCV000305651]	uncertain significance	8	38412342	38412342	Human	5	name
11600896	CV305206	single nucleotide variant	NM_023110.3(FGFR1):c.*1211G>T	Craniosynostosis syndrome [RCV000277998]\|FGFR1-related disorder [RCV004530466]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000370235]\|Osteoglophonic dysplasia [RCV000312959]\|Trigonocephaly 1 [RCV000373654]\|not provided [RCV003221957]	benign\|likely benign	8	38412417	38412417	Human	6	name , alternate_id
11600628	CV308949	single nucleotide variant	NM_023110.3(FGFR1):c.*2407C>T	Craniosynostosis syndrome [RCV000389400]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000385970]\|Osteoglophonic dysplasia [RCV000332549]\|Trigonocephaly 1 [RCV000275206]	uncertain significance	8	38411221	38411221	Human	5	name
11604232	CV308950	single nucleotide variant	NM_023110.3(FGFR1):c.*2188T>C	Craniosynostosis syndrome [RCV000403278]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000285609]\|Osteoglophonic dysplasia [RCV000307551]\|Trigonocephaly 1 [RCV000342866]\|not provided [RCV002221530]	benign\|likely benign	8	38411440	38411440	Human	5	name
11604589	CV308951	deletion	NM_023110.3(FGFR1):c.*2104del	Craniosynostosis syndrome [RCV000364448]\|Hypogonadism with anosmia [RCV000275902]\|Interfrontal craniofaciosynostosis [RCV000368061]\|Osteoglophonic dysplasia [RCV000311092]\|Pfeiffer syndrome [RCV000390120]	likely benign	8	38411524	38411524	Human	8	name
11599082	CV308954	single nucleotide variant	NM_023110.3(FGFR1):c.*1822A>C	Craniosynostosis syndrome [RCV000396158]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000371301]\|Osteoglophonic dysplasia [RCV000262858]\|Trigonocephaly 1 [RCV000298111]	likely benign	8	38411806	38411806	Human	5	name
11651038	CV308955	single nucleotide variant	NM_023110.3(FGFR1):c.*1616T>G	Craniosynostosis syndrome [RCV000395308]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000296343]\|Osteoglophonic dysplasia [RCV000388296]\|Trigonocephaly 1 [RCV000334931]	uncertain significance	8	38412012	38412012	Human	5	name
11599847	CV308965	single nucleotide variant	NM_023110.3(FGFR1):c.*1560C>T	Craniosynostosis syndrome [RCV000269089]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000361474]\|Osteoglophonic dysplasia [RCV000395295]\|Trigonocephaly 1 [RCV000304467]	uncertain significance	8	38412068	38412068	Human	5	name
11647029	CV308966	single nucleotide variant	NM_023110.3(FGFR1):c.*1218T>C	Craniosynostosis syndrome [RCV000309610]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000394454]\|Osteoglophonic dysplasia [RCV000366698]\|Trigonocephaly 1 [RCV000344302]	uncertain significance	8	38412410	38412410	Human	5	name
11601447	CV308967	single nucleotide variant	NM_023110.3(FGFR1):c.*1052C>T	Craniosynostosis syndrome [RCV000282424]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000286027]\|Osteoglophonic dysplasia [RCV000380870]\|Trigonocephaly 1 [RCV000340925]\|not provided [RCV003884512]	benign\|likely benign	8	38412576	38412576	Human	5	name
11599407	CV308992	single nucleotide variant	NM_023110.3(FGFR1):c.449-7C>T	Craniosynostosis syndrome [RCV000265539]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000357926]\|Osteoglophonic dysplasia [RCV000318377]\|Trigonocephaly 1 [RCV000356837]	benign\|likely benign\|uncertain significance	8	38428100	38428100	Human	5	name
11598691	CV308993	single nucleotide variant	NM_023110.3(FGFR1):c.449-9C>G	Craniosynostosis syndrome [RCV000296217]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000388176]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000860990]\|Osteoglophonic dysplasia [RCV000259237]\|Trigonocephaly 1 [RCV000330065]\|not provided [RCV001535070]\|not specified [RC ... (more) V000508144]	benign\|likely benign	8	38428102	38428102	Human	5	name
11598930	CV308994	single nucleotide variant	NM_023110.3(FGFR1):c.359-4A>G	Craniosynostosis syndrome [RCV000301233]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000332863]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000866450]\|Osteoglophonic dysplasia [RCV000371147]\|Trigonocephaly 1 [RCV000261182]\|not provided [RCV001551170]	benign\|likely benign\|uncertain significance	8	38428439	38428439	Human	5	name
404981349	CV3099745	single nucleotide variant	NM_023110.3(FGFR1):c.358+9C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003791574]	likely benign	8	38429673	38429673	Human	1	name
405070598	CV3099812	single nucleotide variant	NM_023110.3(FGFR1):c.91+16G>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003799527]	likely benign	8	38457340	38457340	Human	1	name
405071295	CV3099858	single nucleotide variant	NM_023110.3(FGFR1):c.92-19G>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003799573]	likely benign	8	38429967	38429967	Human	1	name
405003017	CV3102128	duplication	NM_023110.3(FGFR1):c.449-4dup	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804174]	uncertain significance	8	38428096	38428097	Human	1	name
405087102	CV3107996	single nucleotide variant	NM_023110.3(FGFR1):c.359-5C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003800694]	likely benign	8	38428440	38428440	Human	1	name
405128919	CV3110842	single nucleotide variant	NM_023110.3(FGFR1):c.745+1G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003815721]	likely pathogenic	8	38426121	38426121	Human	1	name
405108627	CV3112351	deletion	NM_023110.3(FGFR1):c.622-9del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003813194]	likely benign	8	38426254	38426254	Human	1	name
11599069	CV314169	single nucleotide variant	NM_023110.3(FGFR1):c.*2099T>G	Craniosynostosis syndrome [RCV000262394]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000376774]\|Osteoglophonic dysplasia [RCV000354938]\|Trigonocephaly 1 [RCV000333337]	benign\|likely benign	8	38411529	38411529	Human	5	name
11599571	CV314172	single nucleotide variant	NM_023110.3(FGFR1):c.*2434C>T	Craniosynostosis syndrome [RCV000361229]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000271773]\|Osteoglophonic dysplasia [RCV000362462]\|Trigonocephaly 1 [RCV000307744]	benign\|likely benign	8	38411194	38411194	Human	5	name
11600991	CV314173	single nucleotide variant	NM_023110.3(FGFR1):c.*2391A>G	Craniosynostosis syndrome [RCV000282106]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000374299]\|Osteoglophonic dysplasia [RCV000335868]\|Trigonocephaly 1 [RCV000339237]\|not provided [RCV004696073]	likely benign\|uncertain significance	8	38411237	38411237	Human	5	name
11650277	CV314175	single nucleotide variant	NM_023110.3(FGFR1):c.*1965G>A	Craniosynostosis syndrome [RCV000405499]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000292109]\|Osteoglophonic dysplasia [RCV000314368]\|Trigonocephaly 1 [RCV000349392]	uncertain significance	8	38411663	38411663	Human	5	name
11602241	CV314176	single nucleotide variant	NM_023110.3(FGFR1):c.*1632A>G	Craniosynostosis syndrome [RCV000350094]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000384896]\|Osteoglophonic dysplasia [RCV000292916]\|Trigonocephaly 1 [RCV000328076]\|not provided [RCV004712578]	benign	8	38411996	38411996	Human	5	name
11644931	CV314177	single nucleotide variant	NM_023110.3(FGFR1):c.*1144G>A	Craniosynostosis syndrome [RCV000377311]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000323928]\|Osteoglophonic dysplasia [RCV000262790]\|Trigonocephaly 1 [RCV000320262]	uncertain significance	8	38412484	38412484	Human	5	name
11601723	CV314180	single nucleotide variant	NM_023110.3(FGFR1):c.*2057C>T	Craniosynostosis syndrome [RCV000284588]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000345792]\|Osteoglophonic dysplasia [RCV000288105]\|Trigonocephaly 1 [RCV000323253]	likely benign\|uncertain significance	8	38411571	38411571	Human	5	name
11600263	CV314181	single nucleotide variant	NM_023110.3(FGFR1):c.*1498C>T	Craniosynostosis syndrome [RCV000386520]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000364494]\|Osteoglophonic dysplasia [RCV000272172]\|Trigonocephaly 1 [RCV000329728]	benign\|likely benign	8	38412130	38412130	Human	5	name
11603204	CV314182	single nucleotide variant	NM_023110.3(FGFR1):c.*1026T>C	Craniosynostosis syndrome [RCV000370856]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000337329]\|Osteoglophonic dysplasia [RCV000297496]\|Trigonocephaly 1 [RCV000396128]\|not provided [RCV003437140]	likely benign\|uncertain significance	8	38412602	38412602	Human	5	name
11600715	CV314183	single nucleotide variant	NM_023110.3(FGFR1):c.*1439T>C	Craniosynostosis syndrome [RCV000279514]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000371644]\|Osteoglophonic dysplasia [RCV000337442]\|Trigonocephaly 1 [RCV000333306]	benign\|likely benign	8	38412189	38412189	Human	5	name
405853613	CV3393159	single nucleotide variant	NM_023110.3(FGFR1):c.449-1G>A	Pfeiffer syndrome [RCV004546880]	likely pathogenic	8	38428094	38428094	Human	1	name
407503890	CV3495768	single nucleotide variant	NM_023110.3(FGFR1):c.448+5G>C	not provided [RCV004697608]	uncertain significance	8	38428341	38428341	Human		name
408370866	CV3514363	single nucleotide variant	NM_023110.3(FGFR1):c.*1091G>A	FGFR1-related disorder [RCV004740165]	uncertain significance	8	38412537	38412537	Human		name , trait , alternate_id
408371152	CV3514919	single nucleotide variant	NM_023110.3(FGFR1):c.*1045G>A	FGFR1-related disorder [RCV004740216]	uncertain significance	8	38412583	38412583	Human		name , trait , alternate_id
597735908	CV3722774	single nucleotide variant	NM_023110.3(FGFR1):c.92-14C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005051630]	uncertain significance	8	38429962	38429962	Human	1	name
598128427	CV3887632	single nucleotide variant	NM_023110.3(FGFR1):c.*1053G>A	not provided [RCV005243805]	likely benign	8	38412575	38412575	Human		name
598128510	CV3887714	single nucleotide variant	NM_023110.3(FGFR1):c.*1123C>T	not provided [RCV005243888]	uncertain significance	8	38412505	38412505	Human		name
12913616	CV421675	single nucleotide variant	NM_023110.3(FGFR1):c.92-19G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002524045]\|not provided [RCV000494040]	uncertain significance	8	38429967	38429967	Human	1	name
13471469	CV444276	single nucleotide variant	NM_023110.3(FGFR1):c.936+3A>C	not provided [RCV000518867]	uncertain significance	8	38424506	38424506	Human		name
14712525	CV651969	single nucleotide variant	NM_023110.3(FGFR1):c.448+1G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000810317]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002507407]\|Pfeiffer syndrome [RCV004596350]	likely pathogenic	8	38428345	38428345	Human	2	name
15121559	CV685242	single nucleotide variant	NM_023110.3(FGFR1):c.359-7C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002538905]	benign	8	38428442	38428442	Human	1	name
15102964	CV689920	single nucleotide variant	NM_023110.3(FGFR1):c.745+7G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000870569]\|not provided [RCV003222159]	likely benign	8	38426115	38426115	Human	1	name
15139776	CV689921	single nucleotide variant	NM_023110.3(FGFR1):c.621+7G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001489560]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002501239]	likely benign	8	38427914	38427914	Human	1	name
15134406	CV787716	single nucleotide variant	NM_023110.3(FGFR1):c.937-6T>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001504884]\|Inborn genetic diseases [RCV002549574]\|not provided [RCV000981734]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	38421947	38421947	Human	2	name
21069746	CV796171	single nucleotide variant	NM_023110.3(FGFR1):c.621+3A>G	not provided [RCV000999027]	likely benign	8	38427918	38427918	Human		name
28906557	CV899458	single nucleotide variant	NM_023110.3(FGFR1):c.*2445A>G	Craniosynostosis syndrome [RCV001159022]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159021]\|Osteoglophonic dysplasia [RCV001160361]\|Trigonocephaly 1 [RCV001159023]	uncertain significance	8	38411183	38411183	Human	5	name
28867665	CV899459	single nucleotide variant	NM_023110.3(FGFR1):c.*2408C>T	Craniosynostosis syndrome [RCV001162017]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160364]\|Osteoglophonic dysplasia [RCV001160363]\|Trigonocephaly 1 [RCV001160362]	uncertain significance	8	38411220	38411220	Human	5	name
28906739	CV899460	single nucleotide variant	NM_023110.3(FGFR1):c.*1982A>C	Craniosynostosis syndrome [RCV001160472]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159123]\|Osteoglophonic dysplasia [RCV001159124]\|Trigonocephaly 1 [RCV001159122]	benign\|likely benign\|uncertain significance	8	38411646	38411646	Human	5	name
28867824	CV899461	single nucleotide variant	NM_023110.3(FGFR1):c.*1823G>A	Craniosynostosis syndrome [RCV001160475]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162111]\|Osteoglophonic dysplasia [RCV001160473]\|Trigonocephaly 1 [RCV001160474]	uncertain significance	8	38411805	38411805	Human	5	name
28871826	CV899462	single nucleotide variant	NM_023110.3(FGFR1):c.*1723C>T	Craniosynostosis syndrome [RCV001164126]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164127]\|Osteoglophonic dysplasia [RCV001164125]\|Trigonocephaly 1 [RCV001164128]	uncertain significance	8	38411905	38411905	Human	5	name
28871837	CV899463	single nucleotide variant	NM_023110.3(FGFR1):c.*1711G>A	Craniosynostosis syndrome [RCV001164129]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164131]\|Osteoglophonic dysplasia [RCV001164130]\|Trigonocephaly 1 [RCV001159223]	uncertain significance	8	38411917	38411917	Human	5	name
28906923	CV899464	single nucleotide variant	NM_023110.3(FGFR1):c.*1676G>A	Craniosynostosis syndrome [RCV001159226]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159225]\|Osteoglophonic dysplasia [RCV001159224]\|Trigonocephaly 1 [RCV001159227]	uncertain significance	8	38411952	38411952	Human	5	name
28867954	CV899465	single nucleotide variant	NM_023110.3(FGFR1):c.*1446A>C	Craniosynostosis syndrome [RCV001162193]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164221]\|Osteoglophonic dysplasia [RCV001162194]\|Trigonocephaly 1 [RCV001162195]\|not provided [RCV004695045]	uncertain significance	8	38412182	38412182	Human	5	name
28909518	CV899466	single nucleotide variant	NM_023110.3(FGFR1):c.*1149G>A	Craniosynostosis syndrome [RCV001160680]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160682]\|Osteoglophonic dysplasia [RCV001160681]\|Trigonocephaly 1 [RCV001160679]	uncertain significance	8	38412479	38412479	Human	5	name
28868116	CV899467	single nucleotide variant	NM_023110.3(FGFR1):c.*1124C>G	Craniosynostosis syndrome [RCV001162292]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162291]\|Osteoglophonic dysplasia [RCV001162290]\|Trigonocephaly 1 [RCV001162293]	uncertain significance	8	38412504	38412504	Human	5	name
28868122	CV899468	single nucleotide variant	NM_023110.3(FGFR1):c.*1086A>T	Craniosynostosis syndrome [RCV001162295]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162296]\|Osteoglophonic dysplasia [RCV001162294]\|Trigonocephaly 1 [RCV001164324]	uncertain significance	8	38412542	38412542	Human	5	name
28872291	CV899469	single nucleotide variant	NM_023110.3(FGFR1):c.*1055C>T	Craniosynostosis syndrome [RCV001164326]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164327]\|Osteoglophonic dysplasia [RCV001164325]\|Trigonocephaly 1 [RCV001164328]	uncertain significance	8	38412573	38412573	Human	5	name
127246198	CV1097038	single nucleotide variant	NM_023110.3(FGFR1):c.358+18G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001435361]	likely benign	8	38429664	38429664	Human	1	name
150340107	CV1168160	single nucleotide variant	NM_023110.3(FGFR1):c.746-77G>A	not provided [RCV001534988]	benign	8	38424776	38424776	Human		name
150404947	CV1194047	single nucleotide variant	NM_023110.3(FGFR1):c.359-54G>A	not provided [RCV001571404]	likely benign	8	38428489	38428489	Human		name
150464005	CV1214866	single nucleotide variant	NM_023110.3(FGFR1):c.936+46A>T	not provided [RCV001613862]	benign	8	38424463	38424463	Human		name
150509501	CV1229904	single nucleotide variant	NM_023110.3(FGFR1):c.622-25G>C	not provided [RCV001636484]	benign	8	38426270	38426270	Human		name
150490432	CV1239115	single nucleotide variant	NM_023110.3(FGFR1):c.2293-6T>C	not provided [RCV001654683]	benign	8	38413810	38413810	Human		name
150446405	CV1250661	single nucleotide variant	NM_023110.3(FGFR1):c.449-25G>C	not provided [RCV001667166]	benign	8	38428118	38428118	Human		name
150462007	CV1253313	single nucleotide variant	NM_023110.3(FGFR1):c.937-77T>C	not provided [RCV001669642]	benign	8	38422018	38422018	Human		name
150498662	CV1255616	single nucleotide variant	NM_023110.3(FGFR1):c.359-89G>A	not provided [RCV001676404]	benign	8	38428524	38428524	Human		name
151661706	CV1329963	single nucleotide variant	NM_023110.3(FGFR1):c.2187-1G>A	not provided [RCV001823373]	pathogenic	8	38414024	38414024	Human		name
151662210	CV1332921	single nucleotide variant	NM_023110.3(FGFR1):c.1855-1G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001837165]	pathogenic	8	38414902	38414902	Human	1	name
151742405	CV1507397	single nucleotide variant	NM_023110.3(FGFR1):c.358+18G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001968270]	likely benign	8	38429664	38429664	Human	1	name
152047790	CV1519812	single nucleotide variant	NM_023110.3(FGFR1):c.1977+9C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002145282]\|not specified [RCV004700638]	likely benign	8	38414770	38414770	Human	1	name
152074669	CV1533737	single nucleotide variant	NM_023110.3(FGFR1):c.359-18C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002075567]	likely benign	8	38428453	38428453	Human	1	name
152120198	CV1547346	single nucleotide variant	NM_023110.3(FGFR1):c.2187-5C>T	FGFR1-related disorder [RCV004543849]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002081446]	likely benign	8	38414028	38414028	Human	2	name , alternate_id
152028965	CV1555594	single nucleotide variant	NM_023110.3(FGFR1):c.746-14C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002186010]	likely benign	8	38424713	38424713	Human	1	name
152148509	CV1577033	single nucleotide variant	NM_023110.3(FGFR1):c.937-10T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002179087]	likely benign	8	38421951	38421951	Human	1	name
152031350	CV1593493	single nucleotide variant	NM_023110.3(FGFR1):c.621+19G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002106134]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002494362]	likely benign	8	38427902	38427902	Human	1	name
152026468	CV1594570	single nucleotide variant	NM_023110.3(FGFR1):c.937-15C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002104567]	likely benign	8	38421956	38421956	Human	1	name
152047606	CV1627415	single nucleotide variant	NM_023110.3(FGFR1):c.448+20C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002108533]	benign	8	38428326	38428326	Human	1	name
152118355	CV1659019	single nucleotide variant	NM_023110.3(FGFR1):c.2292+9G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002175235]	likely benign	8	38413909	38413909	Human	1	name
152065982	CV1659847	single nucleotide variant	NM_023110.3(FGFR1):c.1430+9A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002147433]	likely benign	8	38418219	38418219	Human	1	name
155264984	CV1704534	single nucleotide variant	NM_023110.3(FGFR1):c.1082-3C>A	not provided [RCV002284750]	uncertain significance	8	38419738	38419738	Human		name
155801804	CV1864115	single nucleotide variant	NM_023110.3(FGFR1):c.1285-3C>A	not provided [RCV002475067]	uncertain significance	8	38418376	38418376	Human		name
156410806	CV1882775	single nucleotide variant	NM_023110.3(FGFR1):c.358+19C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003072216]	likely benign	8	38429663	38429663	Human	1	name
156250551	CV1887062	single nucleotide variant	NM_023110.3(FGFR1):c.2186+9G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003086086]	likely benign	8	38414143	38414143	Human	1	name
10050016	CV191284	single nucleotide variant	NM_023110.3(FGFR1):c.1663+9C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001429514]\|not provided [RCV000174406]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	38417297	38417297	Human	1	name
10048010	CV191949	single nucleotide variant	NM_023110.3(FGFR1):c.2187-6C>T	Craniosynostosis syndrome [RCV000299729]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000394557]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000540694]\|Osteoglophonic dysplasia [RCV000305455]\|Trigonocephaly 1 [RCV000356927]\|not provided [RCV001573370]\|not specified [RC ... (more) V000175231]	benign\|likely benign	8	38414029	38414029	Human	5	name
156437393	CV1937536	single nucleotide variant	NM_023110.3(FGFR1):c.1431-7C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003106928]	likely benign	8	38417998	38417998	Human	1	name
156333888	CV1954299	single nucleotide variant	NM_023110.3(FGFR1):c.358+11A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002580149]	likely benign	8	38429671	38429671	Human	1	name
156119219	CV2107477	single nucleotide variant	NM_023110.3(FGFR1):c.1855-8T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002914092]	likely benign	8	38414909	38414909	Human	1	name
155986680	CV2108993	single nucleotide variant	NM_023110.3(FGFR1):c.936+13C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002947132]	likely benign	8	38424496	38424496	Human	1	name
11345064	CV236849	single nucleotide variant	NM_023110.3(FGFR1):c.1977+1G>A	FGFR1-related disorder [RCV004782316]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000995547]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003765451]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005044464]\|Semilobar h ... (more) oloprosencephaly [RCV000223775]\|not provided [RCV001562405]	pathogenic\|likely pathogenic	8	38414778	38414778	Human	9	name , alternate_id
329353273	CV2477049	single nucleotide variant	NM_023110.3(FGFR1):c.936+22G>A	not provided [RCV003223281]	likely benign	8	38424487	38424487	Human		name
11633554	CV264353	single nucleotide variant	NM_023110.3(FGFR1):c.1431-1G>A	not provided [RCV000349347]	pathogenic	8	38417992	38417992	Human		name
11640232	CV266927	deletion	NM_023110.3(FGFR1):c.1978-8del	FGFR1-related disorder [RCV004535285]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002519115]\|not provided [RCV000333764]	likely benign\|uncertain significance	8	38414637	38414637	Human	2	name , alternate_id
329953580	CV2670346	single nucleotide variant	NM_023110.3(FGFR1):c.1081+1G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234651]	pathogenic	8	38421796	38421796	Human	1	name
329953583	CV2670348	single nucleotide variant	NM_023110.3(FGFR1):c.1285-2A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234653]	pathogenic	8	38418375	38418375	Human	1	name
329953587	CV2670351	deletion	NM_023110.3(FGFR1):c.1430+1del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234656]	pathogenic	8	38418227	38418227	Human	1	name
329953590	CV2670353	single nucleotide variant	NM_023110.3(FGFR1):c.1552+1G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234658]	likely pathogenic	8	38417869	38417869	Human	1	name
329953592	CV2670354	single nucleotide variant	NM_023110.3(FGFR1):c.1553-2A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234659]	pathogenic	8	38417418	38417418	Human	1	name
329953602	CV2670361	single nucleotide variant	NM_023110.3(FGFR1):c.1854+1G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234666]	pathogenic	8	38415869	38415869	Human	1	name
329953604	CV2670362	single nucleotide variant	NM_023110.3(FGFR1):c.1855-2A>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234667]	pathogenic	8	38414903	38414903	Human	1	name
329953606	CV2670364	single nucleotide variant	NM_023110.3(FGFR1):c.1977+1G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234669]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005227951]	pathogenic\|likely pathogenic	8	38414778	38414778	Human	1	name
329953615	CV2670370	single nucleotide variant	NM_023110.3(FGFR1):c.2293-1G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234675]	pathogenic	8	38413805	38413805	Human	1	name
401935132	CV2805422	single nucleotide variant	NM_023110.3(FGFR1):c.1663+2T>G	Hartsfield-Bixler-Demyer syndrome [RCV003412553]	uncertain significance	8	38417304	38417304	Human	1	name
404987820	CV3083931	single nucleotide variant	NM_023110.3(FGFR1):c.621+18C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003782123]	likely benign	8	38427903	38427903	Human	1	name
404998598	CV3085849	single nucleotide variant	NM_023110.3(FGFR1):c.746-13C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003783219]	likely benign	8	38424712	38424712	Human	1	name
402521030	CV3086315	single nucleotide variant	NM_023110.3(FGFR1):c.2049-1G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003781088]	likely pathogenic	8	38414290	38414290	Human	1	name
11600506	CV308995	single nucleotide variant	NM_023110.3(FGFR1):c.359-13C>G	Craniosynostosis syndrome [RCV000328450]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000384023]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002058732]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002504188]\|Osteoglophonic dysplasia [RCV000287515]\|Trigon ... (more) ocephaly 1 [RCV000274278]\|not provided [RCV001692056]	benign\|likely benign	8	38428448	38428448	Human	5	name
402506558	CV3090382	single nucleotide variant	NM_023110.3(FGFR1):c.1430+4A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003789151]	uncertain significance	8	38418224	38418224	Human	1	name
404994003	CV3091582	single nucleotide variant	NM_023110.3(FGFR1):c.746-14C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003793057]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040515]	likely benign\|uncertain significance	8	38424713	38424713	Human	1	name
402498499	CV3092882	single nucleotide variant	NM_023110.3(FGFR1):c.1285-5T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003788346]	likely benign	8	38418378	38418378	Human	1	name
402483506	CV3093587	single nucleotide variant	NM_023110.3(FGFR1):c.1081+8C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003786785]	likely benign	8	38421789	38421789	Human	1	name
402485450	CV3093794	single nucleotide variant	NM_023110.3(FGFR1):c.1552+8A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003786995]	likely benign	8	38417862	38417862	Human	1	name
405029996	CV3095184	single nucleotide variant	NM_023110.3(FGFR1):c.937-11G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003796389]	likely benign	8	38421952	38421952	Human	1	name
405052055	CV3097917	single nucleotide variant	NM_023110.3(FGFR1):c.621+14C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003808330]	likely benign	8	38427907	38427907	Human	1	name
405006067	CV3098505	single nucleotide variant	NM_023110.3(FGFR1):c.1855-5C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804436]	likely benign	8	38414906	38414906	Human	1	name
405033268	CV3098718	single nucleotide variant	NM_023110.3(FGFR1):c.1855-2A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003806844]	likely pathogenic	8	38414903	38414903	Human	1	name
405070778	CV3099824	single nucleotide variant	NM_023110.3(FGFR1):c.621+17G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003799539]	likely benign	8	38427904	38427904	Human	1	name
405044841	CV3103876	deletion	NM_023110.3(FGFR1):c.745+13del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003797594]	likely benign	8	38426109	38426109	Human	1	name
405171479	CV3104388	single nucleotide variant	NM_023110.3(FGFR1):c.1552+5G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003803065]	uncertain significance	8	38417865	38417865	Human	1	name
405068423	CV3111017	single nucleotide variant	NM_023110.3(FGFR1):c.2187-4G>A	FGFR1-related disorder [RCV004542279]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003809521]	likely benign	8	38414027	38414027	Human	2	name , alternate_id
405127716	CV3112089	single nucleotide variant	NM_023110.3(FGFR1):c.937-17T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003815563]	likely benign	8	38421958	38421958	Human	1	name
405040899	CV3112829	single nucleotide variant	NM_023110.3(FGFR1):c.1081+1G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003807496]	likely pathogenic	8	38421796	38421796	Human	1	name
405041670	CV3112891	single nucleotide variant	NM_023110.3(FGFR1):c.1285-8C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003807558]	likely benign	8	38418381	38418381	Human	1	name
405104848	CV3113082	single nucleotide variant	NM_023110.3(FGFR1):c.1854+7A>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003812373]	uncertain significance	8	38415863	38415863	Human	1	name
405158607	CV3114572	single nucleotide variant	NM_023110.3(FGFR1):c.1081+9T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003818150]	likely benign	8	38421788	38421788	Human	1	name
405654052	CV3228090	single nucleotide variant	NM_023110.3(FGFR1):c.1285-3C>T	not specified [RCV003994824]	uncertain significance	8	38418376	38418376	Human		name
407573015	CV3498792	single nucleotide variant	NM_023110.3(FGFR1):c.-88-19G>T	not provided [RCV005230655]\|not specified [RCV004699761]	likely benign	8	38457553	38457553	Human		name
596948010	CV3547602	single nucleotide variant	NM_023110.3(FGFR1):c.936+57G>A	not provided [RCV004811907]	likely benign	8	38424452	38424452	Human		name
12742288	CV359734	single nucleotide variant	NM_023110.2(FGFR1):c.1855-2A>T	not provided [RCV000413313]	likely pathogenic	8	38414903	38414903	Human		name
597652253	CV3722754	single nucleotide variant	NM_023110.3(FGFR1):c.1854+2T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041199]	likely pathogenic	8	38415868	38415868	Human	1	name
597652403	CV3722771	single nucleotide variant	NM_023110.3(FGFR1):c.622-20C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041214]	uncertain significance	8	38426265	38426265	Human	1	name
597842260	CV3865024	single nucleotide variant	NM_023110.3(FGFR1):c.2187-7G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005211472]	likely benign	8	38414030	38414030	Human	1	name
597867390	CV3869261	single nucleotide variant	NM_023110.3(FGFR1):c.1664-7C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005215191]	likely benign	8	38416067	38416067	Human	1	name
597853291	CV3869798	single nucleotide variant	NM_023110.3(FGFR1):c.1854+9C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005213083]	likely benign	8	38415861	38415861	Human	1	name
597907563	CV3870345	single nucleotide variant	NM_023110.3(FGFR1):c.2186+2T>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005221396]	likely pathogenic	8	38414150	38414150	Human	1	name
597889289	CV3871247	single nucleotide variant	NM_023110.3(FGFR1):c.745+10C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005218579]	likely benign	8	38426112	38426112	Human	1	name
597879414	CV3872041	single nucleotide variant	NM_023110.3(FGFR1):c.1855-3C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005217093]	uncertain significance	8	38414904	38414904	Human	1	name
597863784	CV3875382	single nucleotide variant	NM_023110.3(FGFR1):c.448+15C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005214559]	likely benign	8	38428331	38428331	Human	1	name
597913049	CV3879933	single nucleotide variant	NM_023110.3(FGFR1):c.621+18C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005222172]	likely benign	8	38427903	38427903	Human	1	name
598124071	CV3884130	single nucleotide variant	NM_023110.3(FGFR1):c.1663+5G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005234898]	uncertain significance	8	38417301	38417301	Human	1	name
598128256	CV3887455	single nucleotide variant	NM_023110.3(FGFR1):c.936+21C>T	not provided [RCV005243628]	likely benign	8	38424488	38424488	Human		name
616936595	CV4016493	single nucleotide variant	NM_023110.3(FGFR1):c.2049-1G>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005415360]	likely pathogenic	8	38414290	38414290	Human	1	name
13483499	CV458465	single nucleotide variant	NM_023110.3(FGFR1):c.1430+1G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000552321]	pathogenic\|likely pathogenic	8	38418227	38418227	Human	1	name
13521372	CV495229	single nucleotide variant	NM_023110.3(FGFR1):c.1977+4A>T	not provided [RCV000599398]	likely pathogenic	8	38414775	38414775	Human		name
13616275	CV523562	single nucleotide variant	NM_023110.3(FGFR1):c.2292+3A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000644519]\|not provided [RCV001548029]	likely benign\|uncertain significance	8	38413915	38413915	Human	1	name
13616283	CV523565	single nucleotide variant	NM_023110.3(FGFR1):c.2186+8C>T	FGFR1-related disorder [RCV004544867]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000644525]	likely benign	8	38414144	38414144	Human	2	name , alternate_id
13616282	CV523567	single nucleotide variant	NM_023110.3(FGFR1):c.1285-8C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000644524]	likely benign	8	38418381	38418381	Human	1	name
15158472	CV689918	single nucleotide variant	NM_023110.3(FGFR1):c.1431-5G>A	Craniosynostosis syndrome [RCV001160071]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001160069]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001497484]\|Inborn genetic diseases [RCV002539010]\|Osteoglophonic dysplasia [RCV001160070]\|Trigonocephaly 1 [RCV001160068]\|not pr ... (more) ovided [RCV000868644]	likely benign\|uncertain significance	8	38417996	38417996	Human	6	name
15155544	CV689919	single nucleotide variant	NM_023110.3(FGFR1):c.1431-6C>T	FGFR1-related disorder [RCV004740471]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001430425]	likely benign	8	38417997	38417997	Human	2	name , alternate_id
26898872	CV851694	single nucleotide variant	NM_023110.3(FGFR1):c.2292+6G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001039973]	uncertain significance	8	38413912	38413912	Human	1	name
38462009	CV920254	single nucleotide variant	NM_023110.3(FGFR1):c.937-14G>A	Encephalocraniocutaneous lipomatosis [RCV001198090]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003770214]	likely benign\|uncertain significance	8	38421955	38421955	Human	2	name
38597452	CV963113	single nucleotide variant	NM_023110.3(FGFR1):c.1430+1G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251088]	pathogenic	8	38418227	38418227	Human	1	name
127259131	CV1075367	single nucleotide variant	NM_023110.3(FGFR1):c.1977+10G>A	FGFR1-related disorder [RCV004531278]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001419705]	likely benign	8	38414769	38414769	Human	2	name , alternate_id
150409670	CV1177029	single nucleotide variant	NM_023110.3(FGFR1):c.745+302A>C	not provided [RCV001546336]	likely benign	8	38425820	38425820	Human		name
150420628	CV1180438	single nucleotide variant	NM_023110.3(FGFR1):c.622-300T>C	not provided [RCV001551638]	likely benign	8	38426545	38426545	Human		name
150417535	CV1180439	single nucleotide variant	NM_023110.3(FGFR1):c.622-311G>A	not provided [RCV001550172]	likely benign	8	38426556	38426556	Human		name
150428312	CV1187345	single nucleotide variant	NM_023110.3(FGFR1):c.2049-13C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001859397]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002506665]\|not provided [RCV001562102]	likely benign	8	38414302	38414302	Human	1	name
150416128	CV1190775	single nucleotide variant	NM_023110.3(FGFR1):c.745+271G>T	not provided [RCV001568298]	likely benign	8	38425851	38425851	Human		name
150407185	CV1190776	single nucleotide variant	NM_023110.3(FGFR1):c.358+186T>C	not provided [RCV001564946]	likely benign	8	38429496	38429496	Human		name
150417116	CV1194046	single nucleotide variant	NM_023110.3(FGFR1):c.1081+55G>A	not provided [RCV001568632]	likely benign	8	38421742	38421742	Human		name
150421010	CV1194048	single nucleotide variant	NM_023110.3(FGFR1):c.358+298C>T	not provided [RCV001570367]	likely benign	8	38429384	38429384	Human		name
150421313	CV1197790	single nucleotide variant	NM_023110.3(FGFR1):c.1978-13G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002072272]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002501933]\|not provided [RCV001577983]	likely benign	8	38414642	38414642	Human	1	name
150432442	CV1200647	single nucleotide variant	NM_023110.3(FGFR1):c.936+113C>T	not provided [RCV001581370]	likely benign	8	38424396	38424396	Human		name
150495613	CV1205050	single nucleotide variant	NM_023110.3(FGFR1):c.937-314C>T	not provided [RCV001593542]	likely benign	8	38422255	38422255	Human		name
150498204	CV1208883	single nucleotide variant	NM_023110.3(FGFR1):c.1855-24C>T	not provided [RCV001594100]	likely benign	8	38414925	38414925	Human		name
150483319	CV1210113	single nucleotide variant	NM_023110.3(FGFR1):c.2049-12G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002592504]\|not provided [RCV001590812]	likely benign\|uncertain significance	8	38414301	38414301	Human	1	name
150482236	CV1221020	single nucleotide variant	NM_023110.3(FGFR1):c.359-272C>T	not provided [RCV001617105]	benign	8	38428707	38428707	Human		name
150445858	CV1250576	single nucleotide variant	NM_023110.3(FGFR1):c.746-272A>C	not provided [RCV001667080]	benign	8	38424971	38424971	Human		name
150492116	CV1267888	single nucleotide variant	NM_023110.3(FGFR1):c.622-248G>A	not provided [RCV001687914]	benign	8	38426493	38426493	Human		name
152095605	CV1534082	single nucleotide variant	NM_023110.3(FGFR1):c.1285-15C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002151165]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002500310]	benign\|likely benign	8	38418388	38418388	Human	1	name
152142659	CV1538270	single nucleotide variant	NM_023110.3(FGFR1):c.1978-16C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002219578]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002498260]\|not provided [RCV002227292]	likely benign	8	38414645	38414645	Human	1	name
152029307	CV1568223	single nucleotide variant	NM_023110.3(FGFR1):c.1977+18C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002105540]	likely benign	8	38414761	38414761	Human	1	name
152063327	CV1594660	single nucleotide variant	NM_023110.3(FGFR1):c.2187-19C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002110400]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002500160]	likely benign	8	38414042	38414042	Human	1	name
152049818	CV1602602	single nucleotide variant	NM_023110.3(FGFR1):c.2048+18A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002127102]	likely benign	8	38414541	38414541	Human	1	name
152037359	CV1605596	single nucleotide variant	NM_023110.3(FGFR1):c.2186+19C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002087442]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002494007]\|not provided [RCV004706272]\|not specified [RCV005238191]	likely benign	8	38414133	38414133	Human	1	name
152106349	CV1609048	single nucleotide variant	NM_023110.3(FGFR1):c.1081+16T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002096218]	likely benign	8	38421781	38421781	Human	1	name
152042852	CV1618119	single nucleotide variant	NM_023110.3(FGFR1):c.1552+12T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002206573]	likely benign	8	38417858	38417858	Human	1	name
152108353	CV1623414	single nucleotide variant	NM_023110.3(FGFR1):c.2187-19C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002215125]	likely benign	8	38414042	38414042	Human	1	name
152111256	CV1626175	single nucleotide variant	NM_023110.3(FGFR1):c.2186+18T>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002153083]	likely benign	8	38414134	38414134	Human	1	name
152160362	CV1650112	single nucleotide variant	NM_023110.3(FGFR1):c.2187-18C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002159529]	likely benign	8	38414041	38414041	Human	1	name
152103596	CV1667481	single nucleotide variant	NM_023110.3(FGFR1):c.2292+36G>A	not provided [RCV002214469]	benign	8	38413882	38413882	Human		name
152103612	CV1667484	single nucleotide variant	NM_023110.3(FGFR1):c.-89+499G>A	not provided [RCV002214472]	benign	8	38467482	38467482	Human		name
153001009	CV1684042	microsatellite	NM_023110.3(FGFR1):c.621+6TG[5]	See cases [RCV004584479]\|not provided [RCV004694209]	uncertain significance	8	38427907	38427908	Human		name
153305292	CV1687658	single nucleotide variant	NM_023110.3(FGFR1):c.-89+122C>G	not provided [RCV002263479]	benign\|likely benign	8	38467859	38467859	Human		name
155947665	CV1872443	single nucleotide variant	NM_023110.3(FGFR1):c.1978-15C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003073954]	likely benign	8	38414644	38414644	Human	1	name
156056666	CV1879648	single nucleotide variant	NM_023110.3(FGFR1):c.1854+17C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003053190]	uncertain significance	8	38415853	38415853	Human	1	name
156328322	CV1887493	single nucleotide variant	NM_023110.3(FGFR1):c.2292+12C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003089634]	likely benign	8	38413906	38413906	Human	1	name
156060923	CV1892363	single nucleotide variant	NM_023110.3(FGFR1):c.1082-12G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003079220]	likely benign	8	38419747	38419747	Human	1	name
155940037	CV1913578	single nucleotide variant	NM_023110.3(FGFR1):c.1664-18C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002615568]	likely benign	8	38416078	38416078	Human	1	name
156049891	CV1914993	single nucleotide variant	NM_023110.3(FGFR1):c.2186+20G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002620567]	likely benign	8	38414132	38414132	Human	1	name
156376111	CV1930493	single nucleotide variant	NM_023110.3(FGFR1):c.2293-12C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002633844]	likely benign	8	38413816	38413816	Human	1	name
156008558	CV1989539	single nucleotide variant	NM_023110.3(FGFR1):c.1854+14A>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002636102]	likely benign	8	38415856	38415856	Human	1	name
156305024	CV2013676	single nucleotide variant	NM_023110.3(FGFR1):c.1431-10C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002716237]	likely benign	8	38418001	38418001	Human	1	name
156316537	CV2018027	single nucleotide variant	NM_023110.3(FGFR1):c.1977+20C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002671934]	likely benign	8	38414759	38414759	Human	1	name
156310682	CV2082372	single nucleotide variant	NM_023110.3(FGFR1):c.2186+11G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002898697]	likely benign	8	38414141	38414141	Human	1	name
156099263	CV2103073	single nucleotide variant	NM_023110.3(FGFR1):c.2048+13T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002913341]	likely benign	8	38414546	38414546	Human	1	name
156099820	CV2107231	single nucleotide variant	NM_023110.3(FGFR1):c.2293-12C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002927007]	likely benign	8	38413816	38413816	Human	1	name
156391582	CV2118743	single nucleotide variant	NM_023110.3(FGFR1):c.1663+20G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002943960]	likely benign	8	38417286	38417286	Human	1	name
155961175	CV2138388	single nucleotide variant	NM_023110.3(FGFR1):c.1977+15G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002972392]	likely benign	8	38414764	38414764	Human	1	name
155994204	CV2147817	single nucleotide variant	NM_023110.3(FGFR1):c.2187-13A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003016972]	uncertain significance	8	38414036	38414036	Human	1	name
401750028	CV2736268	single nucleotide variant	NM_023110.3(FGFR1):c.-89+214G>A	not provided [RCV003312716]	likely benign	8	38467767	38467767	Human		name
401923974	CV2821047	single nucleotide variant	NM_023110.3(FGFR1):c.-89+278T>C	not provided [RCV003435468]	benign	8	38467703	38467703	Human		name
401944867	CV2840664	single nucleotide variant	NM_023110.3(FGFR1):c.936+114G>A	not provided [RCV003457534]	likely benign	8	38424395	38424395	Human		name
11650672	CV305213	single nucleotide variant	NM_023110.3(FGFR1):c.2293-11G>A	Craniosynostosis syndrome [RCV000295326]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000294107]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002058729]\|Osteoglophonic dysplasia [RCV000385866]\|Trigonocephaly 1 [RCV000333930]	likely benign\|uncertain significance	8	38413815	38413815	Human	5	name
404988756	CV3084022	single nucleotide variant	NM_023110.3(FGFR1):c.1082-20C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003782214]	likely benign	8	38419755	38419755	Human	1	name
405000345	CV3086006	single nucleotide variant	NM_023110.3(FGFR1):c.2187-15A>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003783377]	likely benign	8	38414038	38414038	Human	1	name
402516588	CV3087735	single nucleotide variant	NM_023110.3(FGFR1):c.1553-14C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003790086]	likely benign	8	38417430	38417430	Human	1	name
405053023	CV3094894	single nucleotide variant	NM_023110.3(FGFR1):c.2292+13G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003798208]	likely benign	8	38413905	38413905	Human	1	name
404988901	CV3097132	single nucleotide variant	NM_023110.3(FGFR1):c.1431-19T>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003792521]	likely benign	8	38418010	38418010	Human	1	name
405044183	CV3097167	single nucleotide variant	NM_023110.3(FGFR1):c.1854+17C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003807747]	likely benign	8	38415853	38415853	Human	1	name
405031187	CV3098413	single nucleotide variant	NM_023110.3(FGFR1):c.1977+19G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003806706]	likely benign	8	38414760	38414760	Human	1	name
405034398	CV3098812	single nucleotide variant	NM_023110.3(FGFR1):c.1285-20G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003806938]	likely benign	8	38418393	38418393	Human	1	name
404977981	CV3098917	single nucleotide variant	NM_023110.3(FGFR1):c.1977+12C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003790897]	likely benign	8	38414767	38414767	Human	1	name
405110490	CV3110630	single nucleotide variant	NM_023110.3(FGFR1):c.1978-17C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003813533]	likely benign	8	38414646	38414646	Human	1	name
11600125	CV314209	single nucleotide variant	NM_023110.3(FGFR1):c.1430+13T>C	Craniosynostosis syndrome [RCV000328758]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000386851]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002058730]\|Osteoglophonic dysplasia [RCV000271401]\|Trigonocephaly 1 [RCV000285905]	likely benign\|uncertain significance	8	38418215	38418215	Human	5	name
11603175	CV314210	single nucleotide variant	NM_023110.3(FGFR1):c.1082-13C>T	Craniosynostosis syndrome [RCV000315388]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000367724]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002058731]\|Osteoglophonic dysplasia [RCV000406668]\|Trigonocephaly 1 [RCV000336384]\|not provided [RCV001552876]\|not specified [RC ... (more) V004701450]	benign\|likely benign	8	38419748	38419748	Human	5	name
405872543	CV3398255	single nucleotide variant	NM_023110.3(FGFR1):c.-89+683G>A	not provided [RCV004575256]	benign	8	38467298	38467298	Human		name
597652321	CV3722763	single nucleotide variant	NM_023110.3(FGFR1):c.1285-18C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041206]	uncertain significance	8	38418391	38418391	Human	1	name
597834122	CV3864221	duplication	NM_023110.3(FGFR1):c.1663+11dup	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005209857]	likely benign	8	38417294	38417295	Human	1	name
597842136	CV3864998	single nucleotide variant	NM_023110.3(FGFR1):c.1552+16G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005211446]	likely benign	8	38417854	38417854	Human	1	name
597896191	CV3865625	single nucleotide variant	NM_023110.3(FGFR1):c.2292+13G>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005219603]	likely benign	8	38413905	38413905	Human	1	name
597848513	CV3872843	single nucleotide variant	NM_023110.3(FGFR1):c.2292+16C>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005212480]	likely benign	8	38413902	38413902	Human	1	name
597859183	CV3878009	single nucleotide variant	NM_023110.3(FGFR1):c.2187-16T>C	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005229319]	likely benign	8	38414039	38414039	Human	1	name
597931228	CV3878561	single nucleotide variant	NM_023110.3(FGFR1):c.2186+17G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005224931]	likely benign	8	38414135	38414135	Human	1	name
597834699	CV3878715	single nucleotide variant	NM_023110.3(FGFR1):c.1285-16C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005225086]	likely benign	8	38418389	38418389	Human	1	name
597860350	CV3879893	single nucleotide variant	NM_023110.3(FGFR1):c.2049-16C>G	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005229472]	likely benign	8	38414305	38414305	Human	1	name
13522864	CV489468	single nucleotide variant	NM_023110.3(FGFR1):c.1854+19C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002062015]\|not provided [RCV000592281]	benign\|uncertain significance	8	38415851	38415851	Human	1	name
13539979	CV502458	single nucleotide variant	NM_023110.3(FGFR1):c.1855-16C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002064377]\|not provided [RCV004705710]\|not specified [RCV000614048]	benign\|likely benign	8	38414917	38414917	Human	1	name
15121235	CV695392	single nucleotide variant	NM_023110.3(FGFR1):c.1663+10G>A	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002487920]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002539179]	likely benign	8	38417296	38417296	Human	1	name
28910354	CV900485	single nucleotide variant	NM_023110.3(FGFR1):c.2187-14C>T	Craniosynostosis syndrome [RCV001161355]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001161353]\|Osteoglophonic dysplasia [RCV001161352]\|Trigonocephaly 1 [RCV001161354]	uncertain significance	8	38414037	38414037	Human	5	name
28873623	CV900486	single nucleotide variant	NM_023110.3(FGFR1):c.1553-13G>A	Craniosynostosis syndrome [RCV001164982]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164979]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001514202]\|Osteoglophonic dysplasia [RCV001164980]\|Trigonocephaly 1 [RCV001164981]\|not provided [RCV003737010]	benign\|likely benign	8	38417429	38417429	Human	5	name
41405691	CV981625	single nucleotide variant	NM_023110.3(FGFR1):c.1081+20C>T	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001523257]\|not provided [RCV001813140]	benign	8	38421777	38421777	Human	1	name
150340238	CV1168159	single nucleotide variant	NM_023110.3(FGFR1):c.1855-163G>T	not provided [RCV001535144]	benign	8	38415064	38415064	Human	8	name
150410159	CV1177031	deletion	NM_023110.3(FGFR1):c.92-10628del	not provided [RCV001546499]	likely benign	8	38440576	38440576	Human		name
150416552	CV1180441	single nucleotide variant	NM_023110.3(FGFR1):c.92-10618C>T	not provided [RCV001549715]	likely benign	8	38440566	38440566	Human		name
150426142	CV1184104	single nucleotide variant	NM_023110.3(FGFR1):c.-88-3663T>C	not provided [RCV001558965]	likely benign	8	38461197	38461197	Human		name
150421847	CV1194045	single nucleotide variant	NM_023110.3(FGFR1):c.1663+341T>C	not provided [RCV001570716]	likely benign	8	38416965	38416965	Human		name
150420051	CV1197791	deletion	NM_023110.3(FGFR1):c.1284+256del	not provided [RCV001577444]	likely benign	8	38419277	38419277	Human		name
150463705	CV1206770	single nucleotide variant	NM_023110.3(FGFR1):c.-88-3829C>T	not provided [RCV001587171]	likely benign	8	38461363	38461363	Human		name
150450119	CV1273726	single nucleotide variant	NM_023110.3(FGFR1):c.-88-3285C>G	not provided [RCV001691826]	benign	8	38460819	38460819	Human		name
150480117	CV1282502	single nucleotide variant	NM_023110.3(FGFR1):c.1855-123G>C	not provided [RCV001714585]	benign	8	38415024	38415024	Human		name
150532089	CV1292057	single nucleotide variant	NM_023110.3(FGFR1):c.92-10361G>A	not specified [RCV001733723]	likely benign	8	38440309	38440309	Human		name
152103601	CV1667482	single nucleotide variant	NM_023110.3(FGFR1):c.-88-4584A>G	not provided [RCV002214470]	benign\|likely benign	8	38462118	38462118	Human		name
152103607	CV1667483	single nucleotide variant	NM_023110.3(FGFR1):c.-89+2528C>T	not provided [RCV002214471]	benign\|likely benign	8	38465453	38465453	Human		name
153305285	CV1687656	single nucleotide variant	NM_023110.3(FGFR1):c.-88-1068C>G	not provided [RCV002263477]	benign\|likely benign	8	38458602	38458602	Human		name
153305289	CV1687657	single nucleotide variant	NM_023110.3(FGFR1):c.-88-4999A>G	not provided [RCV002263478]	benign\|likely benign	8	38462533	38462533	Human		name
155642222	CV1710087	single nucleotide variant	NM_023110.3(FGFR1):c.-88-3922A>C	not provided [RCV002293187]	benign\|likely benign	8	38461456	38461456	Human		name
155642224	CV1710088	single nucleotide variant	NM_023110.3(FGFR1):c.-89+3248T>A	not provided [RCV002293188]	benign	8	38464733	38464733	Human		name
156187608	CV2332810	single nucleotide variant	NM_023110.3(FGFR1):c.92-10400G>A	Inborn genetic diseases [RCV002956772]	likely benign	8	38440348	38440348	Human	1	name
329353277	CV2477050	single nucleotide variant	NM_023110.3(FGFR1):c.-88-2089C>A	not provided [RCV003223282]	likely benign	8	38459623	38459623	Human		name
401727272	CV2736267	single nucleotide variant	NM_023110.3(FGFR1):c.-89+3413A>G	not provided [RCV003312715]	likely benign	8	38464568	38464568	Human		name
401858728	CV2750633	single nucleotide variant	NM_023110.3(FGFR1):c.-89+3827T>C	not provided [RCV003334306]	likely benign	8	38464154	38464154	Human		name
401858734	CV2750634	single nucleotide variant	NM_023110.3(FGFR1):c.-89+3493A>C	not provided [RCV003334307]	likely benign	8	38464488	38464488	Human		name
401923963	CV2821037	single nucleotide variant	NM_023110.3(FGFR1):c.92-10362C>G	not provided [RCV003435461]	likely benign	8	38440310	38440310	Human		name
401923966	CV2821039	single nucleotide variant	NM_023110.3(FGFR1):c.-88-1138T>G	not provided [RCV003435463]	likely benign	8	38458672	38458672	Human		name
401909195	CV2821040	single nucleotide variant	NM_023110.3(FGFR1):c.-88-1576C>T	not provided [RCV003423908]	likely benign	8	38459110	38459110	Human		name
401923968	CV2821041	single nucleotide variant	NM_023110.3(FGFR1):c.-88-4970T>G	not provided [RCV003435464]	likely benign	8	38462504	38462504	Human		name
401923970	CV2821042	single nucleotide variant	NM_023110.3(FGFR1):c.-89+5001A>G	not provided [RCV003435465]	likely benign	8	38462980	38462980	Human		name
401909196	CV2821043	single nucleotide variant	NM_023110.3(FGFR1):c.-89+3910A>G	not provided [RCV003423909]	likely benign	8	38464071	38464071	Human		name
401923971	CV2821044	single nucleotide variant	NM_023110.3(FGFR1):c.-89+3064G>T	not provided [RCV003435466]	benign	8	38464917	38464917	Human		name
401923973	CV2821045	single nucleotide variant	NM_023110.3(FGFR1):c.-89+1893T>C	not provided [RCV003435467]	likely benign	8	38466088	38466088	Human		name
401909197	CV2821046	duplication	NM_023110.3(FGFR1):c.-89+1085dup	not provided [RCV003423910]	likely benign	8	38466895	38466896	Human		name
405852831	CV3393257	single nucleotide variant	NM_023110.3(FGFR1):c.-89+1264C>T	not provided [RCV004545987]	likely benign	8	38466717	38466717	Human		name
596947809	CV3547393	single nucleotide variant	NM_023110.3(FGFR1):c.937-1214G>A	not provided [RCV004811697]	likely benign	8	38423155	38423155	Human		name
596947968	CV3547559	single nucleotide variant	NM_023110.3(FGFR1):c.-88-3886G>A	not provided [RCV004811863]	likely benign	8	38461420	38461420	Human		name
598129981	CV3887407	single nucleotide variant	NM_023110.3(FGFR1):c.-89+4354G>A	not provided [RCV005245468]	likely benign	8	38463627	38463627	Human		name
598129506	CV3888805	deletion	NM_023110.3(FGFR1):c.-89+1907del	not provided [RCV005244979]	likely benign	8	38466074	38466074	Human		name
13832243	CV582735	duplication	NM_023110.3(FGFR1):c.-88-3566dup	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002485836]\|not provided [RCV000722927]\|not specified [RCV001174865]	uncertain significance	8	38461099	38461100	Human	1	name
127265557	CV1097037	microsatellite	NM_023110.3(FGFR1):c.359-15TTC[2]	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001429117]\|not provided [RCV001553051]	likely benign	8	38428442	38428444	Human		name
152071422	CV1549120	microsatellite	NM_023110.3(FGFR1):c.1431-20CT[2]	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002091639]	likely benign	8	38418006	38418007	Human		name
405277690	CV3196056	deletion	NM_023110.3(FGFR1):c.1048_1055del	FGFR1-related disorder [RCV004537104]	uncertain significance	8	38412573	38412580	Human		name , trait , alternate_id
597886313	CV3866603	duplication	NM_023110.3(FGFR1):c.622-117_627dup	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005218079]	uncertain significance	8	38426239	38426240	Human	1	name
405011853	CV3113957	single nucleotide variant	NM_023110.3(FGFR1):c.27C>T (p.Phe9=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804979]	likely benign	8	38457420	38457420	Human	1	name
150485910	CV1262191	single nucleotide variant	NM_023110.3(FGFR1):c.60C>T (p.Thr20=)	not provided [RCV001686882]	likely benign	8	38457387	38457387	Human		name
151661276	CV1329797	duplication	NM_023110.3(FGFR1):c.1285-527_2455dup	spinal cord mass [RCV001822981]	other	8	38413641	38413642	Human		name
151718495	CV1506698	single nucleotide variant	NM_023110.3(FGFR1):c.39G>A (p.Leu13=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001909355]	likely benign\|uncertain significance	8	38457408	38457408	Human	1	name
152110640	CV1537022	microsatellite	NM_023110.3(FGFR1):c.1430+7_1430+9del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002215436]	benign	8	38418219	38418221	Human		name
152119826	CV1659310	single nucleotide variant	NM_023110.3(FGFR1):c.75G>C (p.Pro25=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002175420]\|not provided [RCV003883752]	likely benign	8	38457372	38457372	Human	1	name
152980623	CV1676029	single nucleotide variant	NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002488624]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003101321]\|not provided [RCV002245098]	uncertain significance	8	38457439	38457439	Human	1	name
401923965	CV2821038	single nucleotide variant	NM_023110.3(FGFR1):c.81G>A (p.Leu27=)	not provided [RCV003435462]	uncertain significance	8	38457366	38457366	Human		name
11600957	CV305227	single nucleotide variant	NM_023110.3(FGFR1):c.75G>A (p.Pro25=)	Craniosynostosis syndrome [RCV000372980]\|FGFR1-related disorder [RCV004544703]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000337857]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001520757]\|Osteoglophonic dysplasia [RCV000278150]\|T ... (more) rigonocephaly 1 [RCV000373786]\|not provided [RCV000862056]\|not specified [RCV001729567]	benign\|likely benign\|uncertain significance	8	38457372	38457372	Human	7	name , alternate_id
405034455	CV3093063	single nucleotide variant	NM_023110.3(FGFR1):c.51A>G (p.Thr17=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003786414]	likely benign	8	38457396	38457396	Human	1	name
405002765	CV3102104	single nucleotide variant	NM_023110.3(FGFR1):c.33T>C (p.Ala11=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804150]	likely benign	8	38457414	38457414	Human	1	name
405129268	CV3110882	single nucleotide variant	NM_023110.3(FGFR1):c.42C>T (p.Val14=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003815761]\|not specified [RCV003994590]	likely benign	8	38457405	38457405	Human	1	name
596948024	CV3547616	single nucleotide variant	NM_023110.3(FGFR1):c.69G>C (p.Pro23=)	not provided [RCV004811921]	likely benign	8	38457378	38457378	Human		name
598129228	CV3888522	single nucleotide variant	NM_023110.3(FGFR1):c.5G>A (p.Trp2Ter)	not provided [RCV005244696]	likely pathogenic	8	38457442	38457442	Human		name
13704973	CV539142	single nucleotide variant	NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000662312]	likely pathogenic	8	38457441	38457441	Human	1	name
15151436	CV687291	single nucleotide variant	NM_023110.3(FGFR1):c.69G>A (p.Pro23=)	FGFR1-related disorder [RCV004540204]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001423732]\|not provided [RCV003736926]	likely benign	8	38457378	38457378	Human	2	name , alternate_id
150553752	CV1304083	single nucleotide variant	NM_023110.3(FGFR1):c.243C>T (p.Ile81=)	FGFR1-related disorder [RCV004542105]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002540517]\|not provided [RCV001769468]	likely benign\|uncertain significance	8	38429797	38429797	Human	2	name , alternate_id
151848183	CV1484138	single nucleotide variant	NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001903731]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002478336]\|not provided [RCV005241476]	uncertain significance	8	38457427	38457427	Human	1	name
152042195	CV1603392	single nucleotide variant	NM_023110.3(FGFR1):c.222G>C (p.Ala74=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002071165]	likely benign	8	38429818	38429818	Human	1	name
152169480	CV1632253	single nucleotide variant	NM_023110.3(FGFR1):c.279C>G (p.Pro93=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002142802]	likely benign	8	38429761	38429761	Human	1	name
152076654	CV1632747	single nucleotide variant	NM_023110.3(FGFR1):c.288C>T (p.Ser96=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002170006]	likely benign	8	38429752	38429752	Human	1	name
152117751	CV1633719	single nucleotide variant	NM_023110.3(FGFR1):c.141C>G (p.Pro47=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002117427]	likely benign	8	38429899	38429899	Human	1	name
152109741	CV1665103	single nucleotide variant	NM_023110.3(FGFR1):c.279C>T (p.Pro93=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002080084]	likely benign	8	38429761	38429761	Human	1	name
156099899	CV1907014	single nucleotide variant	NM_023110.3(FGFR1):c.228C>T (p.Ser76=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003080561]	likely benign	8	38429812	38429812	Human	1	name
156197256	CV1912389	single nucleotide variant	NM_023110.3(FGFR1):c.162C>G (p.Arg54=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002595576]	likely benign	8	38429878	38429878	Human	1	name
156239057	CV2109047	single nucleotide variant	NM_023110.3(FGFR1):c.222G>A (p.Ala74=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002933133]	likely benign	8	38429818	38429818	Human	1	name
329953694	CV2670422	deletion	NM_023110.3(FGFR1):c.70del (p.Ser24fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234727]	pathogenic	8	38457377	38457377	Human	1	name
401923962	CV2821036	single nucleotide variant	NM_023110.3(FGFR1):c.207C>T (p.Asp69=)	FGFR1-related disorder [RCV004536817]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003778443]\|not provided [RCV003435460]	likely benign	8	38429833	38429833	Human	2	name , alternate_id
402509249	CV3088901	single nucleotide variant	NM_023110.3(FGFR1):c.141C>T (p.Pro47=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003780105]	likely benign	8	38429899	38429899	Human	1	name
11600045	CV309017	single nucleotide variant	NM_023110.3(FGFR1):c.273C>T (p.Ser91=)	Craniosynostosis syndrome [RCV000366421]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000369735]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001464330]\|Osteoglophonic dysplasia [RCV000307070]\|Trigonocephaly 1 [RCV000270450]	likely benign\|uncertain significance	8	38429767	38429767	Human	5	name
405006651	CV3096107	single nucleotide variant	NM_023110.3(FGFR1):c.147C>T (p.Asp49=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003794257]	likely benign\|uncertain significance	8	38429893	38429893	Human	1	name
405166288	CV3107126	single nucleotide variant	NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003802617]	uncertain significance	8	38457430	38457430	Human	1	name
12841297	CV371859	single nucleotide variant	NM_023110.3(FGFR1):c.297T>C (p.Tyr99=)	FGFR1-related disorder [RCV004539904]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002522619]\|not specified [RCV000432317]	benign\|likely benign	8	38429743	38429743	Human	2	name , alternate_id
597735901	CV3722773	single nucleotide variant	NM_023110.3(FGFR1):c.148C>T (p.Leu50=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005051629]	uncertain significance	8	38429892	38429892	Human	1	name
597864786	CV3872501	single nucleotide variant	NM_023110.3(FGFR1):c.17G>T (p.Cys6Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005214776]	uncertain significance	8	38457430	38457430	Human	1	name
13535461	CV502461	single nucleotide variant	NM_023110.3(FGFR1):c.153G>A (p.Leu51=)	not specified [RCV000602358]	likely benign	8	38429887	38429887	Human		name
13809470	CV577061	single nucleotide variant	NM_023110.3(FGFR1):c.168G>A (p.Arg56=)	Craniosynostosis syndrome [RCV001165322]\|FGFR1-related disorder [RCV004544956]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001165323]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001483664]\|Osteoglophonic dysplasia [RCV001165324]\|T ... (more) rigonocephaly 1 [RCV001158598]\|not provided [RCV000711645]	benign\|likely benign\|uncertain significance	8	38429872	38429872	Human	7	name , alternate_id
15120844	CV684010	single nucleotide variant	NM_023110.3(FGFR1):c.177C>T (p.Asp59=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001481214]\|Inborn genetic diseases [RCV003279126]\|not provided [RCV000861754]	likely benign	8	38429863	38429863	Human	2	name
126923118	CV1045515	single nucleotide variant	NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001365478]	uncertain significance	8	38457366	38457366	Human	1	name
127283898	CV1075368	single nucleotide variant	NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)	FGFR1-related disorder [RCV004531255]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001412074]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002493970]	likely benign	8	38424524	38424524	Human	7	name , alternate_id
127275574	CV1097034	single nucleotide variant	NM_023110.3(FGFR1):c.714C>T (p.Ser238=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001432436]	likely benign	8	38426153	38426153	Human	1	name
127255011	CV1097035	single nucleotide variant	NM_023110.3(FGFR1):c.456T>C (p.Ala152=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001426427]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002504703]	likely benign	8	38428086	38428086	Human	1	name
127250025	CV1097036	single nucleotide variant	NM_023110.3(FGFR1):c.405T>C (p.Ser135=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001436218]\|not specified [RCV004699381]	likely benign	8	38428389	38428389	Human	1	name
127303718	CV1139479	single nucleotide variant	NM_023110.3(FGFR1):c.789C>T (p.Ala263=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001499467]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040293]\|not provided [RCV004774451]	likely benign\|uncertain significance	8	38424656	38424656	Human	1	name
127328158	CV1139480	single nucleotide variant	NM_023110.3(FGFR1):c.786C>T (p.Pro262=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001486645]	likely benign	8	38424659	38424659	Human	1	name
127317083	CV1155959	single nucleotide variant	NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)	FGFR1-related disorder [RCV004740711]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001520874]\|Osteoglophonic dysplasia [RCV001843591]\|not provided [RCV001565165]\|not specified [RCV001658222]	likely pathogenic\|benign\|likely benign\|no classifications from unflagged records	8	38457381	38457381	Human	3	name , alternate_id
150424882	CV1184103	single nucleotide variant	NM_023110.3(FGFR1):c.507G>A (p.Pro169=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002568368]\|not provided [RCV001557258]	likely benign	8	38428035	38428035	Human	1	name
150458992	CV1263943	single nucleotide variant	NM_023110.3(FGFR1):c.873G>A (p.Lys291=)	not provided [RCV001681857]	benign	8	38424572	38424572	Human		name
150456712	CV1269113	single nucleotide variant	NM_023110.3(FGFR1):c.618C>T (p.Tyr206=)	not provided [RCV001692937]	benign	8	38427924	38427924	Human		name
150529424	CV1288974	single nucleotide variant	NM_023110.3(FGFR1):c.74C>T (p.Pro25Leu)	FGFR1-related disorder [RCV004536268]\|not provided [RCV001727443]	uncertain significance	8	38457373	38457373	Human		name , alternate_id
150545351	CV1293757	single nucleotide variant	NM_023110.3(FGFR1):c.61G>A (p.Ala21Thr)	not provided [RCV001762937]	uncertain significance	8	38457386	38457386	Human		name
150553275	CV1298320	single nucleotide variant	NM_023110.3(FGFR1):c.56G>C (p.Cys19Ser)	not provided [RCV001768934]	uncertain significance	8	38457391	38457391	Human		name
151830850	CV1384505	single nucleotide variant	NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro)	FGFR1-related disorder [RCV004741161]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001955666]	uncertain significance	8	38457409	38457409	Human	2	name , alternate_id
151877767	CV1460231	single nucleotide variant	NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002036465]	uncertain significance	8	38457370	38457370	Human	1	name
152105102	CV1536639	single nucleotide variant	NM_023110.3(FGFR1):c.450C>T (p.Pro150=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002173607]	likely benign	8	38428092	38428092	Human	1	name
152099665	CV1606592	microsatellite	NM_023110.3(FGFR1):c.2186+12_2186+14del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002195383]	likely benign	8	38414138	38414140	Human		name
152146979	CV1608071	single nucleotide variant	NM_023110.3(FGFR1):c.333C>T (p.Thr111=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002178870]	likely benign	8	38429707	38429707	Human	1	name
152087937	CV1608606	single nucleotide variant	NM_023110.3(FGFR1):c.891G>A (p.Gly297=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002212312]	likely benign	8	38424554	38424554	Human	1	name
152167622	CV1611539	single nucleotide variant	NM_023110.3(FGFR1):c.411G>A (p.Glu137=)	FGFR1-related disorder [RCV004538785]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002182217]	likely benign	8	38428383	38428383	Human	2	name , alternate_id
152062036	CV1618661	single nucleotide variant	NM_023110.3(FGFR1):c.870A>G (p.Leu290=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002090364]	likely benign	8	38424575	38424575	Human	1	name
152165500	CV1649285	single nucleotide variant	NM_023110.3(FGFR1):c.819G>C (p.Val273=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002204257]	likely benign	8	38424626	38424626	Human	1	name
152047405	CV1653971	single nucleotide variant	NM_023110.3(FGFR1):c.648A>C (p.Ile216=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002088711]	likely benign	8	38426219	38426219	Human	1	name
156410778	CV1882750	single nucleotide variant	NM_023110.3(FGFR1):c.321G>A (p.Ser107=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003072206]	likely benign	8	38429719	38429719	Human	1	name
156053706	CV1928597	single nucleotide variant	NM_023110.3(FGFR1):c.849G>A (p.Pro283=)	FGFR1-related disorder [RCV004540583]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002620696]	likely benign	8	38424596	38424596	Human	2	name , alternate_id
10048548	CV193673	single nucleotide variant	NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	FGFR1-related disorder [RCV004539650]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001080712]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002503683]\|not provided [RCV000756158]\|not specified [RCV000177332]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	38429704	38429704	Human	7	name , alternate_id
10048549	CV193674	single nucleotide variant	NM_023110.3(FGFR1):c.345C>T (p.Ser115=)	Craniosynostosis syndrome [RCV000343521]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000383009]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001085952]\|Osteoglophonic dysplasia [RCV000379366]\|Trigonocephaly 1 [RCV000283836]\|not provided [RCV000559179]\|not specified [RC ... (more) V000177333]	benign\|likely benign	8	38429695	38429695	Human	5	name
156440469	CV1943520	single nucleotide variant	NM_023110.3(FGFR1):c.342C>T (p.Phe114=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003110504]	likely benign	8	38429698	38429698	Human	1	name
156008541	CV1989538	deletion	NM_023110.3(FGFR1):c.1854+15_1854+31del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002636101]	uncertain significance	8	38415839	38415855	Human	1	name
156015612	CV2010171	single nucleotide variant	NM_023110.3(FGFR1):c.303C>T (p.Cys101=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002735123]\|not provided [RCV003434504]	likely benign	8	38429737	38429737	Human	1	name
156371301	CV2048880	single nucleotide variant	NM_023110.3(FGFR1):c.957C>T (p.Thr319=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002814299]	likely benign	8	38421921	38421921	Human	1	name
156085716	CV2060504	deletion	NM_023110.3(FGFR1):c.111del (p.Val38fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002824004]	pathogenic	8	38429929	38429929	Human	1	name
156315056	CV2158540	single nucleotide variant	NM_023110.3(FGFR1):c.597T>C (p.Pro199=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003028809]	likely benign	8	38427945	38427945	Human	1	name
243059021	CV2410078	single nucleotide variant	NM_023110.3(FGFR1):c.97C>A (p.Pro33Thr)	not provided [RCV003147252]	uncertain significance	8	38429943	38429943	Human		name
329952491	CV2669933	deletion	NM_023110.3(FGFR1):c.1855-14_1855-11del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003779851]\|not provided [RCV003233146]	likely benign	8	38414912	38414915	Human	1	name
11642328	CV271831	single nucleotide variant	NM_023110.3(FGFR1):c.615C>T (p.Gly205=)	FGFR1-related disorder [RCV004535389]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002059223]\|not provided [RCV000373182]	likely benign\|uncertain significance	8	38427927	38427927	Human	2	name , alternate_id
401931357	CV2800648	single nucleotide variant	NM_023110.3(FGFR1):c.47C>T (p.Ala16Val)	FGFR1-related disorder [RCV004529804]	uncertain significance	8	38457400	38457400	Human		name , trait , alternate_id
401924563	CV2804953	single nucleotide variant	NM_023110.3(FGFR1):c.945A>G (p.Gly315=)	not specified [RCV003404772]	likely benign	8	38421933	38421933	Human		name
401948156	CV2832214	duplication	NM_023110.3(FGFR1):c.113dup (p.Glu39fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003447739]	uncertain significance	8	38429926	38429927	Human	1	name
11601182	CV305216	single nucleotide variant	NM_023110.3(FGFR1):c.600C>T (p.Asp200=)	Craniosynostosis syndrome [RCV000372366]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000391925]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001084938]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002504187]\|Osteoglophonic dysplasia [RCV000292726]\|Trigon ... (more) ocephaly 1 [RCV000279977]\|not provided [RCV000711647]\|not specified [RCV001700358]	benign\|likely benign	8	38427942	38427942	Human	5	name
402513839	CV3089474	single nucleotide variant	NM_023110.3(FGFR1):c.711C>T (p.Gly237=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003780507]	likely benign	8	38426156	38426156	Human	1	name
11653331	CV308991	single nucleotide variant	NM_023110.3(FGFR1):c.549C>T (p.Thr183=)	Craniosynostosis syndrome [RCV000350262]\|FGFR1-related disorder [RCV004544702]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000362873]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001403682]\|Osteoglophonic dysplasia [RCV000395523]\|T ... (more) rigonocephaly 1 [RCV000404923]	likely benign\|uncertain significance	8	38427993	38427993	Human	7	name , alternate_id
402504650	CV3090215	single nucleotide variant	NM_023110.3(FGFR1):c.957C>G (p.Thr319=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003788983]	likely benign	8	38421921	38421921	Human	1	name
402506965	CV3090601	single nucleotide variant	NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003789215]	uncertain significance	8	38457365	38457365	Human	1	name
405017593	CV3094126	single nucleotide variant	NM_023110.3(FGFR1):c.687C>T (p.Thr229=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003784976]	likely benign	8	38426180	38426180	Human	1	name
405056155	CV3095136	single nucleotide variant	NM_023110.3(FGFR1):c.330C>T (p.Asp110=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003798450]	likely benign	8	38429710	38429710	Human	1	name
405024884	CV3097719	microsatellite	NM_023110.3(FGFR1):c.1081+20_1081+22del	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003806180]	likely benign	8	38421775	38421777	Human		name
405092275	CV3105196	single nucleotide variant	NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003801079]	uncertain significance	8	38457383	38457383	Human	1	name
405034913	CV3105805	single nucleotide variant	NM_023110.3(FGFR1):c.363T>A (p.Ala121=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003796654]	likely benign	8	38428431	38428431	Human	1	name
8570023	CV31323	single nucleotide variant	NM_023110.3(FGFR1):c.936G>A (p.Lys312=)	Hypogonadotropic hypogonadism 2 with anosmia [RCV000030928]	risk factor	8	38424509	38424509	Human	1	name
11599772	CV314206	single nucleotide variant	NM_023110.3(FGFR1):c.663G>T (p.Val221=)	Craniosynostosis syndrome [RCV000321287]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000281294]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001478554]\|Osteoglophonic dysplasia [RCV000378184]\|Trigonocephaly 1 [RCV000338752]	likely benign\|uncertain significance	8	38426204	38426204	Human	5	name
11603633	CV314213	single nucleotide variant	NM_023110.3(FGFR1):c.375G>A (p.Ser125=)	Craniosynostosis syndrome [RCV000342007]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000403181]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000864179]\|Osteoglophonic dysplasia [RCV000302163]\|Trigonocephaly 1 [RCV000402790]\|not provided [RCV001557011]	benign\|likely benign	8	38428419	38428419	Human	5	name
405273054	CV3197579	single nucleotide variant	NM_023110.3(FGFR1):c.996C>T (p.Ser332=)	FGFR1-related disorder [RCV004531897]	likely benign	8	38421882	38421882	Human		name , trait , alternate_id
408370774	CV3512810	single nucleotide variant	NM_023110.3(FGFR1):c.927G>A (p.Gln309=)	FGFR1-related disorder [RCV004740011]	likely benign	8	38424518	38424518	Human		name , trait , alternate_id
408388749	CV3520876	single nucleotide variant	NM_023110.3(FGFR1):c.954C>T (p.Thr318=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005221040]\|not provided [RCV004761709]	likely benign\|uncertain significance	8	38421924	38421924	Human	1	name
597841948	CV3864958	single nucleotide variant	NM_023110.3(FGFR1):c.321G>C (p.Ser107=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005211406]	likely benign	8	38429719	38429719	Human	1	name
597890128	CV3867526	single nucleotide variant	NM_023110.3(FGFR1):c.309C>T (p.Thr103=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005218717]	likely benign	8	38429731	38429731	Human	1	name
597894651	CV3868434	single nucleotide variant	NM_023110.3(FGFR1):c.805C>T (p.Leu269=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005219286]	likely benign	8	38424640	38424640	Human	1	name
597919499	CV3868550	single nucleotide variant	NM_023110.3(FGFR1):c.324C>T (p.Gly108=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005223227]	likely benign	8	38429716	38429716	Human	1	name
597907988	CV3870406	single nucleotide variant	NM_023110.3(FGFR1):c.525G>A (p.Lys175=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005221457]	likely benign	8	38428017	38428017	Human	1	name
597909703	CV3870827	single nucleotide variant	NM_023110.3(FGFR1):c.546G>A (p.Gly182=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005221689]	likely benign	8	38427996	38427996	Human	1	name
597890996	CV3871674	single nucleotide variant	NM_023110.3(FGFR1):c.501A>C (p.Ala167=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005218843]	likely benign	8	38428041	38428041	Human	1	name
597836794	CV3874491	single nucleotide variant	NM_023110.3(FGFR1):c.534C>T (p.Cys178=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005210412]	likely benign	8	38428008	38428008	Human	1	name
597863601	CV3875430	single nucleotide variant	NM_023110.3(FGFR1):c.696G>A (p.Val232=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005214607]	likely benign	8	38426171	38426171	Human	1	name
12913256	CV421676	single nucleotide variant	NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001856982]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002496901]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV004584731]\|not provided [RCV000493590]	pathogenic\|likely benign\|uncertain significance	8	38457364	38457364	Human	1	name
13485297	CV458903	single nucleotide variant	NM_023110.3(FGFR1):c.471C>G (p.Ser157=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001504924]	likely benign	8	38428071	38428071	Human	1	name
15143609	CV687289	single nucleotide variant	NM_023110.3(FGFR1):c.708C>T (p.Tyr236=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001475418]\|not provided [RCV000865763]	likely benign	8	38426159	38426159	Human	1	name
15129493	CV692498	single nucleotide variant	NM_023110.3(FGFR1):c.768C>T (p.Ile256=)	not provided [RCV000875655]	likely benign	8	38424677	38424677	Human		name
28873849	CV899490	single nucleotide variant	NM_023110.3(FGFR1):c.861C>T (p.Ile287=)	Craniosynostosis syndrome [RCV001165095]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001165093]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003769796]\|Osteoglophonic dysplasia [RCV001165096]\|Trigonocephaly 1 [RCV001165094]	likely benign\|uncertain significance	8	38424584	38424584	Human	5	name
28905357	CV899491	single nucleotide variant	NM_023110.3(FGFR1):c.741C>T (p.Val247=)	Craniosynostosis syndrome [RCV001158382]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001158385]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001423260]\|Osteoglophonic dysplasia [RCV001158384]\|Trigonocephaly 1 [RCV001158383]	likely benign\|uncertain significance	8	38426126	38426126	Human	5	name
28867338	CV899493	single nucleotide variant	NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)	Craniosynostosis syndrome [RCV001161821]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001161822]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003769778]\|Osteoglophonic dysplasia [RCV001163335]\|Trigonocephaly 1 [RCV001161823]\|not provided [RCV003319443]	benign\|uncertain significance	8	38457379	38457379	Human	5	name
126750537	CV1008029	single nucleotide variant	NM_023110.3(FGFR1):c.193A>C (p.Asn65His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001326741]\|not provided [RCV001760419]	uncertain significance	8	38429847	38429847	Human	1	name
126727580	CV1017052	single nucleotide variant	NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)	Encephalocraniocutaneous lipomatosis [RCV001332493]\|not provided [RCV003442850]	uncertain significance	8	38429874	38429874	Human	1	name
126726702	CV1028542	single nucleotide variant	NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001348533]\|not provided [RCV005411724]	uncertain significance	8	38417415	38417415	Human	1	name
127263808	CV1097030	single nucleotide variant	NM_023110.3(FGFR1):c.2181C>T (p.Asn727=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001439412]	likely benign	8	38414157	38414157	Human	1	name
127251308	CV1097031	single nucleotide variant	NM_023110.3(FGFR1):c.1953C>T (p.Ile651=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001425545]	likely benign	8	38414803	38414803	Human	1	name
127265308	CV1097032	single nucleotide variant	NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001429037]	likely benign	8	38416035	38416035	Human	1	name
127236539	CV1097033	single nucleotide variant	NM_023110.3(FGFR1):c.1443C>G (p.Gly481=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001433361]	likely benign	8	38417979	38417979	Human	1	name
127312165	CV1155957	single nucleotide variant	NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001518855]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002501811]	benign\|likely benign	8	38418260	38418260	Human	1	name
150407073	CV1177030	single nucleotide variant	NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg)	FGFR1-related disorder [RCV004536170]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003771675]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040313]\|not provided [RCV001545476]	likely benign\|uncertain significance	8	38429774	38429774	Human	7	name , alternate_id
150507348	CV1244543	single nucleotide variant	NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040334]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005225448]\|not provided [RCV001658792]\|not specified [RCV003401566]	uncertain significance	8	38429862	38429862	Human	1	name
150533192	CV1294117	single nucleotide variant	NM_023110.3(FGFR1):c.148C>G (p.Leu50Val)	not provided [RCV001758135]	uncertain significance	8	38429892	38429892	Human		name
150534053	CV1300362	single nucleotide variant	NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002540410]\|not provided [RCV001758490]	uncertain significance	8	38429868	38429868	Human	1	name
150556680	CV1305604	single nucleotide variant	NM_023110.3(FGFR1):c.277C>T (p.Pro93Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005213584]\|Inborn genetic diseases [RCV004040308]\|not provided [RCV001774593]	uncertain significance	8	38429763	38429763	Human	2	name
151869356	CV1379299	single nucleotide variant	NM_023110.3(FGFR1):c.241A>G (p.Ile81Val)	FGFR1-related disorder [RCV004741134]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001906268]\|Pfeiffer syndrome [RCV002267642]\|not specified [RCV002509716]	likely benign\|uncertain significance	8	38429799	38429799	Human	2	name , alternate_id
151837363	CV1383247	single nucleotide variant	NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001935699]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002507037]	uncertain significance	8	38429867	38429867	Human	1	name
151790800	CV1393149	single nucleotide variant	NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001931397]	uncertain significance	8	38429876	38429876	Human	1	name
151810513	CV1393405	single nucleotide variant	NM_023110.3(FGFR1):c.1179G>T (p.Ser393=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001953771]	likely benign	8	38419638	38419638	Human	1	name
151742492	CV1407458	single nucleotide variant	NM_023110.3(FGFR1):c.1167C>T (p.Cys389=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002042370]	likely benign\|uncertain significance	8	38419650	38419650	Human	1	name
151765163	CV1418690	single nucleotide variant	NM_023110.3(FGFR1):c.181G>A (p.Val61Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001928973]	uncertain significance	8	38429859	38429859	Human	1	name
151805396	CV1429887	single nucleotide variant	NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001974287]	uncertain significance	8	38429934	38429934	Human	1	name
151784905	CV1454710	single nucleotide variant	NM_023110.3(FGFR1):c.2406C>T (p.Pro802=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001972433]	likely benign	8	38413691	38413691	Human	1	name
151755503	CV1480262	single nucleotide variant	NM_023110.3(FGFR1):c.1179G>A (p.Ser393=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001948575]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005042548]	likely benign\|uncertain significance	8	38419638	38419638	Human	1	name
151816720	CV1482623	single nucleotide variant	NM_023110.3(FGFR1):c.169C>A (p.Leu57Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002049384]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040420]\|Pfeiffer syndrome [RCV004558671]	likely benign\|uncertain significance	8	38429871	38429871	Human	2	name
151728243	CV1515698	single nucleotide variant	NM_023110.3(FGFR1):c.256G>A (p.Val86Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001983930]	likely benign\|uncertain significance	8	38429784	38429784	Human	1	name
152042559	CV1522197	single nucleotide variant	NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002088154]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002494160]	benign\|likely benign	8	38418350	38418350	Human	1	name
152083209	CV1525291	single nucleotide variant	NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002131091]	likely benign	8	38415909	38415909	Human	1	name
152142594	CV1526697	single nucleotide variant	NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002084361]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002508063]	likely benign	8	38414280	38414280	Human	1	name
152137022	CV1528570	single nucleotide variant	NM_023110.3(FGFR1):c.1005C>T (p.Asp335=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002100255]	likely benign	8	38421873	38421873	Human	1	name
152111333	CV1537144	single nucleotide variant	NM_023110.3(FGFR1):c.1770C>T (p.Asn590=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002215531]	likely benign	8	38415954	38415954	Human	1	name
152059347	CV1540453	single nucleotide variant	NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002109919]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002494368]	likely benign	8	38413939	38413939	Human	1	name
152168325	CV1558623	single nucleotide variant	NM_023110.3(FGFR1):c.1680C>T (p.Ile560=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002142402]	likely benign	8	38416044	38416044	Human	1	name
152079529	CV1579877	single nucleotide variant	NM_023110.3(FGFR1):c.2433A>T (p.Pro811=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002076183]	likely benign	8	38413664	38413664	Human	1	name
152137398	CV1603731	single nucleotide variant	NM_023110.3(FGFR1):c.2091C>T (p.Gly697=)	FGFR1-related disorder [RCV004741216]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002218908]\|Inborn genetic diseases [RCV004976229]	likely benign	8	38414247	38414247	Human	3	name , alternate_id
152100868	CV1606787	single nucleotide variant	NM_023110.3(FGFR1):c.2400G>A (p.Pro800=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002195530]	likely benign	8	38413697	38413697	Human	1	name
152051965	CV1607158	single nucleotide variant	NM_023110.3(FGFR1):c.1449C>T (p.Pro483=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002109083]	likely benign	8	38417973	38417973	Human	1	name
152174336	CV1622381	single nucleotide variant	NM_023110.3(FGFR1):c.1296C>T (p.Asp432=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002184475]	likely benign	8	38418362	38418362	Human	1	name
155643171	CV1706583	single nucleotide variant	NM_023110.3(FGFR1):c.287C>G (p.Ser96Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002468662]\|See cases [RCV004584492]	likely pathogenic\|uncertain significance	8	38429753	38429753	Human	1	name
155750059	CV1772890	single nucleotide variant	NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002305308]	uncertain significance	8	38429861	38429861	Human	1	name
155690068	CV1775119	single nucleotide variant	NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002294837]	uncertain significance	8	38429802	38429802	Human	1	name
9693637	CV178338	single nucleotide variant	NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys)	Delayed puberty [RCV000156962]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234549]\|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000156961]	pathogenic\|likely pathogenic	8	38429744	38429744	Human	4	name
156190970	CV1904036	single nucleotide variant	NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002574409]	likely benign	8	38418329	38418329	Human	1	name
156026216	CV1918779	single nucleotide variant	NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002636956]	likely benign	8	38419623	38419623	Human	1	name
156351164	CV1965443	single nucleotide variant	NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002581071]	likely benign	8	38417949	38417949	Human	1	name
156381886	CV1978891	single nucleotide variant	NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002604024]	likely benign	8	38417928	38417928	Human	1	name
156176389	CV2000459	single nucleotide variant	NM_023110.3(FGFR1):c.1245C>T (p.His415=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002642885]	likely benign	8	38419572	38419572	Human	1	name
156321804	CV2022142	single nucleotide variant	NM_023110.3(FGFR1):c.1932C>T (p.Leu644=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002717141]	likely benign	8	38414824	38414824	Human	1	name
156013160	CV2039618	single nucleotide variant	NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002756795]	likely benign	8	38421867	38421867	Human	1	name
156161969	CV2056436	single nucleotide variant	NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002801664]	likely benign	8	38413727	38413727	Human	1	name
156316702	CV2071074	single nucleotide variant	NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002834443]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005045008]	uncertain significance	8	38429759	38429759	Human	1	name
156210220	CV2074197	deletion	NM_023110.3(FGFR1):c.625del (p.Arg209fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002829268]	pathogenic	8	38426242	38426242	Human	1	name
155955980	CV2078256	deletion	NM_023110.3(FGFR1):c.780del (p.Leu261fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002880767]	pathogenic	8	38424665	38424665	Human	1	name
155998287	CV2092046	single nucleotide variant	NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002908497]	likely benign	8	38421858	38421858	Human	1	name
156099842	CV2107233	single nucleotide variant	NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002927008]	uncertain significance	8	38429748	38429748	Human	1	name
156126835	CV2112377	single nucleotide variant	NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002928038]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005399019]	uncertain significance	8	38429772	38429772	Human	1	name
156219201	CV2132756	single nucleotide variant	NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003007310]	uncertain significance	8	38429795	38429795	Human	1	name
155960744	CV2138355	single nucleotide variant	NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002972373]	likely benign	8	38416038	38416038	Human	1	name
156280719	CV2160951	single nucleotide variant	NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003027306]	likely benign	8	38417979	38417979	Human	1	name
156194131	CV2162397	single nucleotide variant	NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003041743]	uncertain significance	8	38429804	38429804	Human	1	name
156077991	CV2173619	single nucleotide variant	NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003053930]	likely benign	8	38416008	38416008	Human	1	name
156247721	CV2174383	single nucleotide variant	NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003043676]	likely benign	8	38414277	38414277	Human	1	name
156237396	CV2235670	single nucleotide variant	NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234598]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003777735]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005045409]\|Inborn genetic diseases [RCV002768044]	uncertain significance	8	38429835	38429835	Human	2	name
156092011	CV2389525	single nucleotide variant	NM_023110.3(FGFR1):c.136C>T (p.His46Tyr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005227871]\|Inborn genetic diseases [RCV002784370]	benign\|uncertain significance	8	38429904	38429904	Human	2	name
243059024	CV2410079	single nucleotide variant	NM_023110.3(FGFR1):c.1825C>A (p.Arg609=)	not provided [RCV003147253]	uncertain significance	8	38415899	38415899	Human		name
329847711	CV2524459	single nucleotide variant	NM_023110.3(FGFR1):c.245C>G (p.Thr82Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005047472]\|not provided [RCV003227351]	uncertain significance	8	38429795	38429795	Human	1	name
329953568	CV2670338	duplication	NM_023110.3(FGFR1):c.355dup (p.Ser119fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234643]	pathogenic	8	38429684	38429685	Human	1	name
329953569	CV2670339	duplication	NM_023110.3(FGFR1):c.551dup (p.Asn185fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234644]	pathogenic	8	38427990	38427991	Human	1	name
329953641	CV2670387	single nucleotide variant	NM_023110.3(FGFR1):c.239G>C (p.Arg80Pro)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234692]	uncertain significance	8	38429801	38429801	Human	1	name
329953654	CV2670395	single nucleotide variant	NM_023110.3(FGFR1):c.284A>G (p.Asp95Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234700]	uncertain significance	8	38429756	38429756	Human	1	name
329953660	CV2670399	single nucleotide variant	NM_023110.3(FGFR1):c.286T>C (p.Ser96Pro)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234704]	uncertain significance	8	38429754	38429754	Human	1	name
329953673	CV2670408	single nucleotide variant	NM_023110.3(FGFR1):c.289G>A (p.Gly97Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234713]	likely pathogenic	8	38429751	38429751	Human	1	name
329953699	CV2670425	single nucleotide variant	NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234730]	pathogenic	8	38429886	38429886	Human	1	name
11639559	CV271083	single nucleotide variant	NM_023110.3(FGFR1):c.211G>T (p.Val71Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002521956]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005049516]\|not provided [RCV000323081]	likely benign\|uncertain significance	8	38429829	38429829	Human	1	name
401727258	CV2736265	single nucleotide variant	NM_023110.3(FGFR1):c.2305C>T (p.Leu769=)	not provided [RCV003312713]	likely benign	8	38413792	38413792	Human		name
401727265	CV2736266	single nucleotide variant	NM_023110.3(FGFR1):c.101G>A (p.Trp34Ter)	not provided [RCV003312714]	pathogenic	8	38429939	38429939	Human		name
402492579	CV3082161	single nucleotide variant	NM_023110.3(FGFR1):c.1113G>A (p.Ser371=)	FGFR1-related disorder [RCV004542252]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003787721]	likely benign	8	38419704	38419704	Human	2	name , alternate_id
405027649	CV3082422	single nucleotide variant	NM_023110.3(FGFR1):c.1248G>A (p.Lys416=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003785873]	likely benign	8	38419569	38419569	Human	1	name
405007403	CV3082920	single nucleotide variant	NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003784021]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040504]	benign\|likely benign	8	38429846	38429846	Human	1	name
405049024	CV3084494	single nucleotide variant	NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003797901]	likely benign	8	38417913	38417913	Human	1	name
405049445	CV3084524	single nucleotide variant	NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003797931]	likely benign	8	38429858	38429858	Human	1	name
405023826	CV3084999	single nucleotide variant	NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003795865]	uncertain significance	8	38429900	38429900	Human	1	name
404994972	CV3085328	single nucleotide variant	NM_023110.3(FGFR1):c.1272C>T (p.Arg424=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003782859]	likely benign	8	38419545	38419545	Human	1	name
402512730	CV3087416	single nucleotide variant	NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003789767]	benign	8	38429819	38429819	Human	1	name
405018503	CV3087810	single nucleotide variant	NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003795370]	uncertain significance	8	38417928	38417928	Human	1	name
405019794	CV3087951	single nucleotide variant	NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003795511]	uncertain significance	8	38414779	38414779	Human	1	name
405022303	CV3088172	single nucleotide variant	NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003795732]	likely benign	8	38415993	38415993	Human	1	name
402505197	CV3090246	single nucleotide variant	NM_023110.3(FGFR1):c.1875A>G (p.Ala625=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003789014]	likely benign	8	38414881	38414881	Human	1	name
402508634	CV3090751	single nucleotide variant	NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003789368]	likely benign	8	38413715	38413715	Human	1	name
402490433	CV3090977	single nucleotide variant	NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003787479]	likely benign	8	38414252	38414252	Human	1	name
402493034	CV3091144	single nucleotide variant	NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003787649]	likely benign	8	38417352	38417352	Human	1	name
402496527	CV3092504	single nucleotide variant	NM_023110.3(FGFR1):c.2430C>T (p.His810=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003788124]	likely benign	8	38413667	38413667	Human	1	name
402496691	CV3092521	single nucleotide variant	NM_023110.3(FGFR1):c.112G>A (p.Val38Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003788141]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040499]	likely benign\|uncertain significance	8	38429928	38429928	Human	1	name
402499306	CV3092941	single nucleotide variant	NM_023110.3(FGFR1):c.1239T>C (p.Ala413=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003788405]	likely benign	8	38419578	38419578	Human	1	name
405054231	CV3094946	single nucleotide variant	NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003798260]	likely benign	8	38421834	38421834	Human	1	name
405000846	CV3095449	single nucleotide variant	NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003793752]	likely benign	8	38421816	38421816	Human	1	name
405001430	CV3095490	single nucleotide variant	NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003793793]	likely benign	8	38419614	38419614	Human	1	name
405005021	CV3095989	single nucleotide variant	NM_023110.3(FGFR1):c.2046T>C (p.Asp682=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003794139]	likely benign	8	38414561	38414561	Human	1	name
405046751	CV3097354	single nucleotide variant	NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003807934]	likely benign	8	38413730	38413730	Human	1	name
404979808	CV3099482	single nucleotide variant	NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003791310]	likely benign	8	38413951	38413951	Human	1	name
405017691	CV3100773	single nucleotide variant	NM_023110.3(FGFR1):c.1356T>C (p.Ser452=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003805521]	likely benign	8	38418302	38418302	Human	1	name
405033956	CV3105858	single nucleotide variant	NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003796709]	likely benign	8	38415879	38415879	Human	1	name
405156307	CV3109307	single nucleotide variant	NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003801830]	likely benign	8	38429778	38429778	Human	1	name
405109129	CV3112403	single nucleotide variant	NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)	FGFR1-related disorder [RCV004539146]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003813246]	likely benign	8	38414175	38414175	Human	2	name , alternate_id
8600136	CV31337	single nucleotide variant	NM_023110.3(FGFR1):c.142G>A (p.Gly48Ser)	FGFR1-related disorder [RCV004724747]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000017691]\|not provided [RCV003311661]	pathogenic\|likely pathogenic	8	38429898	38429898	Human	1	name , alternate_id
11602139	CV314200	single nucleotide variant	NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	Craniosynostosis syndrome [RCV000345174]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000390955]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001080803]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002502396]\|Osteoglophonic dysplasia [RCV000406266]\|Trigon ... (more) ocephaly 1 [RCV000346666]\|not provided [RCV000553183]	benign\|likely benign	8	38413948	38413948	Human	5	name
405269771	CV3187479	single nucleotide variant	NM_023110.3(FGFR1):c.2328C>T (p.Tyr776=)	not provided [RCV003887563]	likely benign	8	38413769	38413769	Human		name
405274102	CV3195025	single nucleotide variant	NM_023110.3(FGFR1):c.1614C>T (p.Ile538=)	FGFR1-related disorder [RCV004534616]\|Inborn genetic diseases [RCV004621945]	likely benign	8	38417355	38417355	Human	1	name , alternate_id
405275362	CV3196282	single nucleotide variant	NM_023110.3(FGFR1):c.2346C>T (p.Asp782=)	FGFR1-related disorder [RCV004540928]	likely benign	8	38413751	38413751	Human		name , trait , alternate_id
405291033	CV3203792	single nucleotide variant	NM_023110.3(FGFR1):c.2037C>T (p.His679=)	FGFR1-related disorder [RCV004534686]	likely benign	8	38414570	38414570	Human		name , trait , alternate_id
405270890	CV3218812	single nucleotide variant	NM_023110.3(FGFR1):c.1497G>A (p.Gly499=)	FGFR1-related disorder [RCV004545643]	likely benign	8	38417925	38417925	Human		name , trait , alternate_id
405852856	CV3393282	single nucleotide variant	NM_023110.3(FGFR1):c.1029G>A (p.Ala343=)	Hypogonadotropic hypogonadism [RCV004783140]\|not provided [RCV004546012]	pathogenic\|likely pathogenic	8	38421849	38421849	Human	3	name
408388248	CV3527431	single nucleotide variant	NM_023110.3(FGFR1):c.212T>C (p.Val71Ala)	not provided [RCV004773734]	uncertain significance	8	38429828	38429828	Human		name
596924296	CV3532193	single nucleotide variant	NM_023110.3(FGFR1):c.287C>T (p.Ser96Phe)	not provided [RCV004777304]	uncertain significance	8	38429753	38429753	Human		name
596943378	CV3542908	single nucleotide variant	NM_023110.3(FGFR1):c.278C>T (p.Pro93Leu)	not provided [RCV004798492]	uncertain significance	8	38429762	38429762	Human		name
12837089	CV369470	single nucleotide variant	NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002063561]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002502577]\|not provided [RCV000867615]	likely benign	8	38413766	38413766	Human	1	name
12834255	CV370233	single nucleotide variant	NM_023110.3(FGFR1):c.1386G>A (p.Glu462=)	Craniosynostosis syndrome [RCV001161485]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001161486]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001485544]\|Osteoglophonic dysplasia [RCV001161483]\|Trigonocephaly 1 [RCV001161484]\|not provided [RCV000420056]	benign\|likely benign	8	38418272	38418272	Human	5	name
12845268	CV371850	single nucleotide variant	NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)	Craniosynostosis syndrome [RCV001164856]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001078934]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164857]\|Osteoglophonic dysplasia [RCV001164855]\|Trigonocephaly 1 [RCV001164854]\|not provided [RCV000726653]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	38413932	38413932	Human	5	name
597652242	CV3722752	single nucleotide variant	NM_023110.3(FGFR1):c.2121G>A (p.Glu707=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041198]	uncertain significance	8	38414217	38414217	Human	1	name
597735872	CV3722753	single nucleotide variant	NM_023110.3(FGFR1):c.2031C>T (p.Tyr677=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005051625]	uncertain significance	8	38414576	38414576	Human	1	name
597652281	CV3722757	single nucleotide variant	NM_023110.3(FGFR1):c.1710G>T (p.Arg570=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041202]	uncertain significance	8	38416014	38416014	Human	1	name
597652293	CV3722758	single nucleotide variant	NM_023110.3(FGFR1):c.1383T>C (p.Ser461=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041203]	uncertain significance	8	38418275	38418275	Human	1	name
597652363	CV3722767	single nucleotide variant	NM_023110.3(FGFR1):c.1137C>T (p.Ile379=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041210]	uncertain significance	8	38419680	38419680	Human	1	name
597652410	CV3722772	single nucleotide variant	NM_023110.3(FGFR1):c.176A>T (p.Asp59Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041215]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005223185]	uncertain significance	8	38429864	38429864	Human	1	name
597835010	CV3864362	single nucleotide variant	NM_023110.3(FGFR1):c.2248C>T (p.Leu750=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005209998]	likely benign	8	38413962	38413962	Human	1	name
597889641	CV3867485	single nucleotide variant	NM_023110.3(FGFR1):c.1075C>T (p.Leu359=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005218676]	likely benign	8	38421803	38421803	Human	1	name
597841443	CV3868271	single nucleotide variant	NM_023110.3(FGFR1):c.2205C>T (p.Asp735=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005211304]	likely benign	8	38414005	38414005	Human	1	name
597871276	CV3870041	single nucleotide variant	NM_023110.3(FGFR1):c.2283C>T (p.Thr761=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005215771]	likely benign	8	38413927	38413927	Human	1	name
597852398	CV3870068	single nucleotide variant	NM_023110.3(FGFR1):c.1743G>A (p.Leu581=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005228460]	likely benign	8	38415981	38415981	Human	1	name
597856655	CV3870798	single nucleotide variant	NM_023110.3(FGFR1):c.1944T>C (p.Ile648=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005229001]	likely benign	8	38414812	38414812	Human	1	name
597838613	CV3871089	single nucleotide variant	NM_023110.3(FGFR1):c.233G>A (p.Arg78His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005210749]	uncertain significance	8	38429807	38429807	Human	1	name
597879149	CV3872001	single nucleotide variant	NM_023110.3(FGFR1):c.2067C>T (p.Leu689=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005217052]	likely benign	8	38414271	38414271	Human	1	name
597851400	CV3873388	single nucleotide variant	NM_023110.3(FGFR1):c.242T>C (p.Ile81Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005212831]	uncertain significance	8	38429798	38429798	Human	1	name
597836708	CV3874418	single nucleotide variant	NM_023110.3(FGFR1):c.2160C>T (p.Asp720=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005210339]	likely benign	8	38414178	38414178	Human	1	name
597862126	CV3875107	single nucleotide variant	NM_023110.3(FGFR1):c.1758C>T (p.Asn586=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005214283]	likely benign	8	38415966	38415966	Human	1	name
597839741	CV3877567	single nucleotide variant	NM_023110.3(FGFR1):c.1350C>T (p.Ser450=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005226221]	likely benign	8	38418308	38418308	Human	1	name
597844031	CV3877689	single nucleotide variant	NM_023110.3(FGFR1):c.1359G>C (p.Gly453=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005227040]	likely benign	8	38418299	38418299	Human	1	name
597859557	CV3878057	single nucleotide variant	NM_023110.3(FGFR1):c.2334C>G (p.Pro778=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005229367]	likely benign	8	38413763	38413763	Human	1	name
597846570	CV3880663	single nucleotide variant	NM_023110.3(FGFR1):c.157C>T (p.Leu53Phe)	not provided [RCV005227551]	uncertain significance	8	38429883	38429883	Human		name
598122669	CV3884601	single nucleotide variant	NM_023110.3(FGFR1):c.133G>A (p.Val45Ile)	not specified [RCV005237293]	uncertain significance	8	38429907	38429907	Human		name
598219012	CV3891742	single nucleotide variant	NM_023110.3(FGFR1):c.1854G>A (p.Lys618=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005252585]	uncertain significance	8	38415870	38415870	Human	1	name
12906710	CV415131	single nucleotide variant	NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001865508]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002475960]\|Inborn genetic diseases [RCV004023240]\|not provided [RCV000489554]	uncertain significance	8	38429912	38429912	Human	2	name
13212172	CV425793	single nucleotide variant	NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)	FGFR1-related disorder [RCV004527604]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000704507]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001004067]\|not provided [RCV000498444]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	8	38429808	38429808	Human	2	name , alternate_id
13214008	CV428840	single nucleotide variant	NM_023110.3(FGFR1):c.1176G>A (p.Gly392=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003766817]\|not specified [RCV000500602]	benign\|likely benign	8	38419641	38419641	Human	1	name
13470925	CV441234	deletion	NM_023110.3(FGFR1):c.821del (p.Glu274fs)	not provided [RCV000518169]	pathogenic	8	38424624	38424624	Human		name
13484582	CV458466	single nucleotide variant	NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000552834]\|not provided [RCV004592582]	uncertain significance	8	38429880	38429880	Human	1	name
13490251	CV458898	single nucleotide variant	NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)	FGFR1-related disorder [RCV004541713]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001081619]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002506352]\|not provided [RCV000756157]	benign\|likely benign	8	38414868	38414868	Human	7	name , alternate_id
13522910	CV489943	single nucleotide variant	NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)	FGFR1-related disorder [RCV004543338]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002062027]\|not provided [RCV000592343]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	38419719	38419719	Human	2	name , alternate_id
13516017	CV493079	single nucleotide variant	NM_023110.3(FGFR1):c.2007C>T (p.Pro669=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002531092]\|not provided [RCV000594996]	likely benign\|uncertain significance	8	38414600	38414600	Human	1	name
13515185	CV493549	single nucleotide variant	NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000644518]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002483651]\|not provided [RCV000593963]	pathogenic\|likely pathogenic	8	38429826	38429826	Human	1	name
13616277	CV524155	single nucleotide variant	NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000644521]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002493024]\|not provided [RCV001311329]	likely benign	8	38414232	38414232	Human	1	name
14978379	CV677428	single nucleotide variant	NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000850554]	uncertain significance	8	38429751	38429751	Human	1	name
15128805	CV684008	single nucleotide variant	NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)	FGFR1-related disorder [RCV004538201]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001462522]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002501219]\|not provided [RCV000863134]	likely benign	8	38413799	38413799	Human	7	name , alternate_id
15121083	CV684009	single nucleotide variant	NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000861800]\|not provided [RCV001532614]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	38419548	38419548	Human	1	name
15143589	CV687283	single nucleotide variant	NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001521216]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002478965]	benign\|likely benign	8	38413673	38413673	Human	1	name
15136185	CV687284	single nucleotide variant	NM_023110.3(FGFR1):c.2361G>A (p.Thr787=)	Craniosynostosis syndrome [RCV001161246]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001161245]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001400061]\|Osteoglophonic dysplasia [RCV001162791]\|Trigonocephaly 1 [RCV001161244]\|not provided [RCV000864450]	benign\|likely benign	8	38413736	38413736	Human	5	name
15155582	CV687285	single nucleotide variant	NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002064572]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002495278]	likely benign	8	38413972	38413972	Human	1	name
15156303	CV687286	single nucleotide variant	NM_023110.3(FGFR1):c.1884T>C (p.Asn628=)	not provided [RCV000868205]	likely benign	8	38414872	38414872	Human		name
15143749	CV687287	single nucleotide variant	NM_023110.3(FGFR1):c.1869C>T (p.Asp623=)	Craniosynostosis syndrome [RCV001162901]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162904]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002064519]\|Osteoglophonic dysplasia [RCV001162902]\|Trigonocephaly 1 [RCV001162903]	likely benign\|uncertain significance	8	38414887	38414887	Human	5	name
15149563	CV687288	single nucleotide variant	NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001463889]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002478972]	likely benign	8	38419632	38419632	Human	1	name
15126959	CV692496	single nucleotide variant	NM_023110.3(FGFR1):c.1809C>T (p.Cys603=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003768696]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005047138]	likely benign\|uncertain significance	8	38415915	38415915	Human	1	name
38598589	CV692497	single nucleotide variant	NM_023110.3(FGFR1):c.1476G>A (p.Val492=)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001417888]	likely benign	8	38417946	38417946	Human	1	name
15119568	CV766805	single nucleotide variant	NM_023110.3(FGFR1):c.1314C>T (p.Asn438=)	not provided [RCV000940206]	likely benign	8	38418344	38418344	Human		name
25317350	CV805569	single nucleotide variant	NM_023110.3(FGFR1):c.184C>T (p.Gln62Ter)	not provided [RCV001007991]	likely pathogenic	8	38429856	38429856	Human		name
28907970	CV899484	single nucleotide variant	NM_023110.3(FGFR1):c.2451C>T (p.Gly817=)	Craniosynostosis syndrome [RCV001161239]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159839]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002070974]\|Osteoglophonic dysplasia [RCV001159838]\|Trigonocephaly 1 [RCV001159840]	likely benign\|uncertain significance	8	38413646	38413646	Human	5	name
28869086	CV899488	single nucleotide variant	NM_023110.3(FGFR1):c.1713G>A (p.Glu571=)	Craniosynostosis syndrome [RCV001162907]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001162908]\|Osteoglophonic dysplasia [RCV001162905]\|Trigonocephaly 1 [RCV001162906]	uncertain significance	8	38416011	38416011	Human	5	name
28869748	CV899492	single nucleotide variant	NM_023110.3(FGFR1):c.274G>A (p.Val92Met)	Craniosynostosis syndrome [RCV001163227]\|FGFR1-related disorder [RCV004538383]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001165321]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002557393]\|Hypogonadotropic hypogonadism 2 with or w ... (more) ithout anosmia [RCV005039980]\|Osteoglophonic dysplasia [RCV001163226]\|Trigonocephaly 1 [RCV001163225]	benign\|likely benign\|uncertain significance	8	38429766	38429766	Human	10	name , alternate_id
38484940	CV925200	single nucleotide variant	NM_023110.3(FGFR1):c.295T>C (p.Tyr99His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001219412]	uncertain significance	8	38429745	38429745	Human	1	name
38487991	CV946063	single nucleotide variant	NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001237839]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002491770]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234572]\|not provided [RCV001547124]	uncertain significance	8	38429809	38429809	Human	1	name
38597458	CV963110	single nucleotide variant	NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251092]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003770305]	likely pathogenic	8	38429751	38429751	Human	1	name
38597459	CV963111	single nucleotide variant	NM_023110.3(FGFR1):c.211G>A (p.Val71Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251093]	likely pathogenic	8	38429829	38429829	Human	1	name
38597460	CV963112	single nucleotide variant	NM_023110.3(FGFR1):c.208G>A (p.Gly70Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251094]	likely pathogenic	8	38429832	38429832	Human	1	name
40888002	CV973661	single nucleotide variant	NM_023110.3(FGFR1):c.285C>G (p.Asp95Glu)	Inborn genetic diseases [RCV001267524]	uncertain significance	8	38429755	38429755	Human	1	name
126773435	CV1008028	single nucleotide variant	NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001324327]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002476525]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234575]	uncertain significance	8	38428372	38428372	Human	1	name
126727587	CV1017050	single nucleotide variant	NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn)	Jackson-Weiss syndrome [RCV001332496]	uncertain significance	8	38428403	38428403	Human	1	name
126729245	CV1028546	single nucleotide variant	NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001349073]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002504553]	uncertain significance	8	38427958	38427958	Human	1	name
126746034	CV1028547	single nucleotide variant	NM_023110.3(FGFR1):c.389A>T (p.Asp130Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001351471]	uncertain significance	8	38428405	38428405	Human	1	name
126763415	CV1028548	single nucleotide variant	NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001341267]	uncertain significance	8	38429718	38429718	Human	1	name
150420816	CV1180440	single nucleotide variant	NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002032587]\|Inborn genetic diseases [RCV002568333]\|not provided [RCV001551726]	likely benign\|uncertain significance	8	38428400	38428400	Human	2	name
150426290	CV1187346	single nucleotide variant	NM_023110.3(FGFR1):c.535C>T (p.Pro179Ser)	not provided [RCV001559383]	uncertain significance	8	38428007	38428007	Human		name
150508106	CV1244740	single nucleotide variant	NM_023110.3(FGFR1):c.451G>A (p.Val151Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002539626]\|not provided [RCV001658989]	uncertain significance	8	38428091	38428091	Human	1	name
150530137	CV1293360	single nucleotide variant	NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001882822]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234583]\|not provided [RCV001756580]	uncertain significance	8	38428036	38428036	Human	1	name
150540592	CV1296377	single nucleotide variant	NM_023110.3(FGFR1):c.378G>T (p.Glu126Asp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040353]\|not provided [RCV001760444]	uncertain significance	8	38428416	38428416	Human	1	name
150555308	CV1297755	single nucleotide variant	NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002489759]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005213571]\|not provided [RCV001772663]	uncertain significance	8	38428352	38428352	Human	1	name
150540805	CV1298533	single nucleotide variant	NM_023110.3(FGFR1):c.303C>G (p.Cys101Trp)	not provided [RCV001760681]	uncertain significance	8	38429737	38429737	Human		name
150549506	CV1299488	single nucleotide variant	NM_023110.3(FGFR1):c.820G>C (p.Glu274Gln)	not provided [RCV001752414]	uncertain significance	8	38424625	38424625	Human		name
150549732	CV1299624	single nucleotide variant	NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001868518]\|not provided [RCV001752550]	uncertain significance	8	38428346	38428346	Human	1	name
151350056	CV1324576	single nucleotide variant	NM_023110.3(FGFR1):c.391G>C (p.Asp131His)	Hartsfield-Bixler-Demyer syndrome [RCV001809021]	uncertain significance	8	38428403	38428403	Human	1	name
151354181	CV1329314	deletion	NM_023110.3(FGFR1):c.2223del (p.Ser742fs)	not provided [RCV001817677]	pathogenic	8	38413987	38413987	Human		name
151354417	CV1329550	single nucleotide variant	NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV004796668]\|not provided [RCV001817913]	likely pathogenic	8	38424636	38424636	Human	1	name
151662209	CV1332920	single nucleotide variant	NM_023110.3(FGFR1):c.748C>T (p.Arg250Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001837164]	pathogenic\|likely pathogenic	8	38424697	38424697	Human	1	name
151662211	CV1332922	single nucleotide variant	NM_023110.3(FGFR1):c.863A>T (p.Gln288Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001837166]	uncertain significance	8	38424582	38424582	Human	1	name
151733253	CV1336522	single nucleotide variant	NM_023110.3(FGFR1):c.779G>A (p.Gly260Glu)	Amenorrhea [RCV001849751]	uncertain significance	8	38424666	38424666	Human	2	name
151810088	CV1363079	single nucleotide variant	NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001991741]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002486599]\|not provided [RCV003438911]	likely benign\|uncertain significance	8	38429694	38429694	Human	1	name
8686771	CV136393	single nucleotide variant	NM_023110.3(FGFR1):c.443G>A (p.Arg148His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000119057]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002483201]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005213208]\|not provided [RCV000585124]	pathogenic\|uncertain significance	8	38428351	38428351	Human	1	name
8686772	CV136394	single nucleotide variant	NM_023110.3(FGFR1):c.790A>C (p.Asn264His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000119058]	pathogenic	8	38424655	38424655	Human	1	name
151787172	CV1390340	duplication	NM_023110.3(FGFR1):c.1265dup (p.Leu423fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001931031]	pathogenic	8	38419551	38419552	Human	1	name
151790769	CV1399905	single nucleotide variant	NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001916796]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234585]	likely pathogenic\|uncertain significance	8	38428010	38428010	Human	1	name
151814545	CV1444472	single nucleotide variant	NM_023110.3(FGFR1):c.566G>A (p.Arg189His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001933536]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002484599]	uncertain significance	8	38427976	38427976	Human	1	name
151733664	CV1477609	single nucleotide variant	NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001967365]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002491970]	uncertain significance	8	38428413	38428413	Human	1	name
151729224	CV1483127	single nucleotide variant	NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001892068]	uncertain significance	8	38429699	38429699	Human	1	name
151757602	CV1516251	single nucleotide variant	NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002043910]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234587]	uncertain significance	8	38427985	38427985	Human	1	name
152999459	CV1679814	single nucleotide variant	NM_023110.3(FGFR1):c.606A>T (p.Arg202Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002251203]	uncertain significance	8	38427936	38427936	Human	1	name
153000568	CV1683150	single nucleotide variant	NM_023110.3(FGFR1):c.421A>G (p.Thr141Ala)	See cases [RCV002253160]\|not provided [RCV002464523]\|not specified [RCV002271727]	uncertain significance	8	38428373	38428373	Human		name
153301796	CV1685862	single nucleotide variant	NM_023110.3(FGFR1):c.673A>G (p.Lys225Glu)	not provided [RCV002260839]	uncertain significance	8	38426194	38426194	Human		name
155265228	CV1704687	single nucleotide variant	NM_023110.3(FGFR1):c.443G>C (p.Arg148Pro)	not provided [RCV002284903]	uncertain significance	8	38428351	38428351	Human		name
155643201	CV1706597	single nucleotide variant	NM_023110.3(FGFR1):c.457C>G (p.Pro153Ala)	See cases [RCV004584498]	uncertain significance	8	38428085	38428085	Human		name
155643158	CV1707704	duplication	NM_023110.3(FGFR1):c.1969dup (p.Thr657fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002289165]	pathogenic	8	38414786	38414787	Human	1	name
155701006	CV1771130	single nucleotide variant	NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002295628]	uncertain significance	8	38428369	38428369	Human	1	name
9693633	CV178337	single nucleotide variant	NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)	Delayed puberty [RCV000156952]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002505182]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234546]\|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000156951]	likely pathogenic\|uncertain significance	8	38424624	38424624	Human	4	name
10406053	CV181583	single nucleotide variant	NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000200962]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	38427977	38427977	Human	1	name
156061927	CV1868129	single nucleotide variant	NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003037292]	pathogenic	8	38429738	38429738	Human	1	name
156418787	CV1918765	single nucleotide variant	NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002611996]	uncertain significance	8	38426148	38426148	Human	1	name
155961159	CV1936536	single nucleotide variant	NM_023110.3(FGFR1):c.814A>T (p.Asn272Tyr)	not provided [RCV002512353]	uncertain significance	8	38424631	38424631	Human		name
10048547	CV193672	single nucleotide variant	NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)	Craniosynostosis syndrome [RCV000405061]\|FGFR1-related disorder [RCV004537429]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000300152]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000546208]\|Osteoglophonic dysplasia [RCV000350406]\|T ... (more) rigonocephaly 1 [RCV000405303]\|not provided [RCV001573117]\|not specified [RCV000177331]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	38429720	38429720	Human	7	name , alternate_id
156068561	CV2050824	single nucleotide variant	NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002797331]	uncertain significance	8	38421887	38421887	Human	1	name
156366284	CV2130665	single nucleotide variant	NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002967331]	likely benign\|uncertain significance	8	38429729	38429729	Human	1	name
156260230	CV2138580	single nucleotide variant	NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002988438]	uncertain significance	8	38427925	38427925	Human	1	name
156256433	CV2185298	single nucleotide variant	NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)	FGFR1-related disorder [RCV004529195]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003043970]	uncertain significance	8	38428432	38428432	Human	2	name , alternate_id
11050506	CV224978	single nucleotide variant	NM_023110.3(FGFR1):c.572T>C (p.Leu191Ser)	Hartsfield-Bixler-Demyer syndrome [RCV000208879]	pathogenic\|not provided	8	38427970	38427970	Human	1	name
11345026	CV236852	single nucleotide variant	NM_023110.3(FGFR1):c.749G>C (p.Arg250Pro)	Lobar holoprosencephaly [RCV000223933]\|not provided [RCV004719772]	pathogenic\|likely pathogenic	8	38424696	38424696	Human	2	name
156448901	CV2402321	deletion	NM_023110.3(FGFR1):c.2460del (p.Lys820fs)	not provided [RCV003120480]	uncertain significance	8	38413637	38413637	Human		name
243062618	CV2405071	single nucleotide variant	NM_023110.3(FGFR1):c.514A>T (p.Lys172Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003140621]	likely pathogenic	8	38428028	38428028	Human	1	name
11638394	CV266126	single nucleotide variant	NM_023110.3(FGFR1):c.463T>C (p.Trp155Arg)	not provided [RCV000301620]	uncertain significance	8	38428079	38428079	Human		name
329953565	CV2670336	single nucleotide variant	NM_023110.3(FGFR1):c.317C>T (p.Pro106Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234641]	uncertain significance	8	38429723	38429723	Human	1	name
329953571	CV2670340	single nucleotide variant	NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234645]	pathogenic	8	38427972	38427972	Human	1	name
329953572	CV2670341	single nucleotide variant	NM_023110.3(FGFR1):c.630T>A (p.Tyr210Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234646]	pathogenic	8	38426237	38426237	Human	1	name
329953574	CV2670342	single nucleotide variant	NM_023110.3(FGFR1):c.630T>G (p.Tyr210Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234647]	pathogenic	8	38426237	38426237	Human	1	name
329953576	CV2670343	single nucleotide variant	NM_023110.3(FGFR1):c.925C>T (p.Gln309Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234648]	pathogenic	8	38424520	38424520	Human	1	name
329953577	CV2670344	duplication	NM_023110.3(FGFR1):c.1039dup (p.Ile347fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234649]	pathogenic	8	38421838	38421839	Human	1	name
329953582	CV2670347	duplication	NM_023110.3(FGFR1):c.1152dup (p.Phe385fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234652]	pathogenic	8	38419664	38419665	Human	1	name
329953586	CV2670350	duplication	NM_023110.3(FGFR1):c.1384dup (p.Glu462fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234655]	pathogenic	8	38418273	38418274	Human	1	name
329953595	CV2670356	deletion	NM_023110.3(FGFR1):c.1673del (p.Tyr558fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234661]	pathogenic	8	38416051	38416051	Human	1	name
329953609	CV2670366	deletion	NM_023110.3(FGFR1):c.2036del (p.His679fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234671]	pathogenic	8	38414571	38414571	Human	1	name
329953611	CV2670367	deletion	NM_023110.3(FGFR1):c.2058del (p.Phe686fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234672]	pathogenic	8	38414280	38414280	Human	1	name
329953617	CV2670371	single nucleotide variant	NM_023110.3(FGFR1):c.591C>A (p.Phe197Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234676]	uncertain significance	8	38427951	38427951	Human	1	name
329953618	CV2670372	single nucleotide variant	NM_023110.3(FGFR1):c.604A>G (p.Arg202Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234677]	uncertain significance	8	38427938	38427938	Human	1	name
329953620	CV2670373	single nucleotide variant	NM_023110.3(FGFR1):c.619A>G (p.Lys207Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234678]	uncertain significance	8	38427923	38427923	Human	1	name
329953622	CV2670374	single nucleotide variant	NM_023110.3(FGFR1):c.670G>C (p.Asp224His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234679]\|Hypogonadotropic hypogonadism [RCV004783050]	likely pathogenic	8	38426197	38426197	Human	4	name
329953623	CV2670375	single nucleotide variant	NM_023110.3(FGFR1):c.682T>G (p.Tyr228Asp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234680]	likely pathogenic	8	38426185	38426185	Human	1	name
329953625	CV2670376	single nucleotide variant	NM_023110.3(FGFR1):c.694G>A (p.Val232Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234681]	uncertain significance	8	38426173	38426173	Human	1	name
329953626	CV2670377	single nucleotide variant	NM_023110.3(FGFR1):c.700A>G (p.Asn234Asp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234682]	uncertain significance	8	38426167	38426167	Human	1	name
329953628	CV2670378	single nucleotide variant	NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234683]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005051277]	pathogenic\|likely pathogenic	8	38426157	38426157	Human	1	name
329953629	CV2670379	single nucleotide variant	NM_023110.3(FGFR1):c.716T>C (p.Ile239Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234684]	likely pathogenic	8	38426151	38426151	Human	1	name
329953631	CV2670380	single nucleotide variant	NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234685]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005227952]	pathogenic\|likely pathogenic	8	38424685	38424685	Human	1	name
329953632	CV2670381	single nucleotide variant	NM_023110.3(FGFR1):c.761G>A (p.Arg254Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234686]	likely pathogenic	8	38424684	38424684	Human	1	name
329953634	CV2670382	single nucleotide variant	NM_023110.3(FGFR1):c.764C>T (p.Pro255Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234687]	uncertain significance	8	38424681	38424681	Human	1	name
329953635	CV2670383	single nucleotide variant	NM_023110.3(FGFR1):c.797C>T (p.Thr266Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234688]	likely pathogenic	8	38424648	38424648	Human	1	name
329953637	CV2670384	single nucleotide variant	NM_023110.3(FGFR1):c.841A>G (p.Ser281Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234689]	uncertain significance	8	38424604	38424604	Human	1	name
329953638	CV2670385	single nucleotide variant	NM_023110.3(FGFR1):c.848C>G (p.Pro283Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234690]	uncertain significance	8	38424597	38424597	Human	1	name
329953640	CV2670386	single nucleotide variant	NM_023110.3(FGFR1):c.854C>G (p.Pro285Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234691]	uncertain significance	8	38424591	38424591	Human	1	name
329953643	CV2670388	single nucleotide variant	NM_023110.3(FGFR1):c.887A>T (p.Asn296Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234693]	uncertain significance	8	38424558	38424558	Human	1	name
329953690	CV2670419	single nucleotide variant	NM_023110.3(FGFR1):c.305T>G (p.Val102Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234724]	uncertain significance	8	38429735	38429735	Human	1	name
329953697	CV2670424	duplication	NM_023110.3(FGFR1):c.94_95dup (p.Gln32fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234729]	pathogenic	8	38429944	38429945	Human	1	name
401830530	CV2748217	single nucleotide variant	NM_023110.3(FGFR1):c.449C>A (p.Pro150His)	not provided [RCV003329824]	uncertain significance	8	38428093	38428093	Human		name
401925811	CV2821035	single nucleotide variant	NM_023110.3(FGFR1):c.386A>G (p.Asp129Gly)	Hartsfield-Bixler-Demyer syndrome [RCV005254789]\|not provided [RCV003436871]	uncertain significance	8	38428408	38428408	Human	1	name
11602331	CV305217	single nucleotide variant	NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)	Craniosynostosis syndrome [RCV000386920]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000289001]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001861321]\|Inborn genetic diseases [RCV002523679]\|Osteoglophonic dysplasia [RCV000347374]\|Trigonocephaly 1 [RCV000391006]\|not pr ... (more) ovided [RCV001584091]	likely benign\|uncertain significance	8	38428379	38428379	Human	6	name
405026061	CV3082140	single nucleotide variant	NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003785748]	uncertain significance	8	38424568	38424568	Human	1	name
11599794	CV308990	single nucleotide variant	NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr)	Craniosynostosis syndrome [RCV000268656]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000275517]\|Osteoglophonic dysplasia [RCV000366723]\|Trigonocephaly 1 [RCV000327189]	benign\|likely benign\|uncertain significance	8	38424658	38424658	Human	5	name
405017805	CV3094170	single nucleotide variant	NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003785020]	uncertain significance	8	38428423	38428423	Human	1	name
405008346	CV3096257	single nucleotide variant	NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003794407]	uncertain significance	8	38428390	38428390	Human	1	name
405179491	CV3101642	single nucleotide variant	NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003803855]	uncertain significance	8	38428019	38428019	Human	1	name
405010864	CV3106031	single nucleotide variant	NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003794529]	uncertain significance	8	38429702	38429702	Human	1	name
405055136	CV3107855	single nucleotide variant	NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003808601]	uncertain significance	8	38426209	38426209	Human	1	name
405008637	CV3108995	deletion	NM_023110.3(FGFR1):c.1946del (p.His649fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804662]	pathogenic	8	38414810	38414810	Human	1	name
405008675	CV3108998	deletion	NM_023110.3(FGFR1):c.1948del (p.His650fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804665]	pathogenic	8	38414808	38414808	Human	1	name
405009050	CV3109030	single nucleotide variant	NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804697]	uncertain significance	8	38429705	38429705	Human	1	name
405152122	CV3110155	single nucleotide variant	NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003817675]	likely pathogenic	8	38428010	38428010	Human	1	name
405067616	CV3111001	single nucleotide variant	NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003809505]	uncertain significance	8	38429724	38429724	Human	1	name
405069703	CV3111135	duplication	NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003809639]	pathogenic	8	38414891	38414892	Human	1	name
405106524	CV3113641	duplication	NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003812763]	pathogenic	8	38417978	38417979	Human	1	name
405011833	CV3113955	single nucleotide variant	NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003804977]	uncertain significance	8	38424622	38424622	Human	1	name
405013938	CV3114298	single nucleotide variant	NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003805152]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040529]	uncertain significance	8	38428395	38428395	Human	1	name
405079187	CV3114679	single nucleotide variant	NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003810242]	uncertain significance	8	38426205	38426205	Human	1	name
8600130	CV31318	single nucleotide variant	NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)	FGFR1-related disorder [RCV005229812]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000644520]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002496391]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV004798731]\|Jackson-Wei ... (more) ss syndrome [RCV000017670]\|Pfeiffer syndrome [RCV000017669]\|not provided [RCV001200303]	pathogenic	8	38424690	38424690	Human	7	name , alternate_id
8603172	CV31324	single nucleotide variant	NM_023110.3(FGFR1):c.499G>T (p.Ala167Ser)	Hypogonadotropic hypogonadism 2 with anosmia [RCV000030929]	pathogenic	8	38428043	38428043	Human	1	name
8600131	CV31325	single nucleotide variant	NM_023110.3(FGFR1):c.989A>T (p.Asn330Ile)	Osteoglophonic dysplasia [RCV000017678]	pathogenic\|no classifications from unflagged records	8	38421889	38421889	Human	1	name
8600133	CV31328	single nucleotide variant	NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)	FGFR1-related disorder [RCV004532374]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000766015]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001407682]\|Trigonocephaly 1 [RCV000017681]\|not provided [RCV000514891]\|not specified [RCV0005 ... (more) 02492]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	38424546	38424546	Human	7	name , alternate_id
8600135	CV31330	single nucleotide variant	NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser)	FGFR1-related disorder [RCV004528116]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000017684]	likely pathogenic\|risk factor	8	38426158	38426158	Human	1	name , alternate_id
8603181	CV31342	single nucleotide variant	NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000030940]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002514107]	pathogenic\|risk factor	8	38424696	38424696	Human	1	name
11610265	CV314212	single nucleotide variant	NM_023110.3(FGFR1):c.742G>A (p.Val248Met)	Craniosynostosis syndrome [RCV000379458]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003766087]	likely benign\|uncertain significance	8	38426125	38426125	Human	3	name
405259712	CV3186389	deletion	NM_023110.3(FGFR1):c.-88-3884_-88-3882del	not provided [RCV003884148]	likely benign	8	38461416	38461418	Human		name
405269774	CV3187480	deletion	NM_023110.3(FGFR1):c.2334del (p.Ser779fs)	not provided [RCV003887564]	uncertain significance	8	38413763	38413763	Human		name
405288627	CV3193734	single nucleotide variant	NM_023110.3(FGFR1):c.824T>A (p.Phe275Tyr)	FGFR1-related disorder [RCV004542655]	uncertain significance	8	38424621	38424621	Human		name , trait , alternate_id
407428131	CV3412353	deletion	NM_023110.3(FGFR1):c.2166del (p.Ser723fs)	not provided [RCV004593521]	pathogenic	8	38414172	38414172	Human		name
407429156	CV3413543	deletion	NM_023110.3(FGFR1):c.2327del (p.Tyr776fs)	Jackson-Weiss syndrome [RCV004594952]	uncertain significance	8	38413770	38413770	Human	1	name
407574693	CV3495443	single nucleotide variant	NM_023110.3(FGFR1):c.995C>G (p.Ser332Cys)	not provided [RCV004720198]	uncertain significance	8	38421883	38421883	Human		name
407503882	CV3495769	single nucleotide variant	NM_023110.3(FGFR1):c.401C>G (p.Ser134Cys)	not provided [RCV004697609]	uncertain significance	8	38428393	38428393	Human		name
407573772	CV3498121	single nucleotide variant	NM_023110.3(FGFR1):c.416A>G (p.Lys139Arg)	not provided [RCV004702110]	uncertain significance	8	38428378	38428378	Human		name
408381531	CV3501954	single nucleotide variant	NM_023110.3(FGFR1):c.995C>T (p.Ser332Phe)	not provided [RCV004729482]	uncertain significance	8	38421883	38421883	Human		name
408393345	CV3519783	single nucleotide variant	NM_023110.3(FGFR1):c.785C>T (p.Pro262Leu)	not provided [RCV004764079]	uncertain significance	8	38424660	38424660	Human		name
408388127	CV3520652	single nucleotide variant	NM_023110.3(FGFR1):c.359A>G (p.Asp120Gly)	not provided [RCV004761485]	uncertain significance	8	38428435	38428435	Human		name
408388250	CV3522601	single nucleotide variant	NM_023110.3(FGFR1):c.409G>C (p.Glu137Gln)	not provided [RCV004768982]	uncertain significance	8	38428385	38428385	Human		name
408391067	CV3527870	single nucleotide variant	NM_023110.3(FGFR1):c.359A>T (p.Asp120Val)	not provided [RCV004775140]	uncertain significance	8	38428435	38428435	Human		name
596942207	CV3542540	single nucleotide variant	NM_023110.3(FGFR1):c.505C>G (p.Pro169Ala)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV004798124]	uncertain significance	8	38428037	38428037	Human	1	name
12843385	CV363175	single nucleotide variant	NM_023110.3(FGFR1):c.754C>A (p.Pro252Thr)	Neoplasm [RCV000436130]	likely pathogenic	8	38424691	38424691	Human	1	name
12834441	CV363176	single nucleotide variant	NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234556]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003766180]\|not provided [RCV003235204]	likely pathogenic\|uncertain significance	8	38428420	38428420	Human	1	name
597653662	CV3672734	single nucleotide variant	NM_023110.3(FGFR1):c.589T>G (p.Phe197Val)	Inborn genetic diseases [RCV004975078]	uncertain significance	8	38427953	38427953	Human	1	name
597653668	CV3672735	single nucleotide variant	NM_023110.3(FGFR1):c.553A>C (p.Asn185His)	Inborn genetic diseases [RCV004975079]	uncertain significance	8	38427989	38427989	Human	1	name
597652382	CV3722769	single nucleotide variant	NM_023110.3(FGFR1):c.827T>C (p.Met276Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041212]	uncertain significance	8	38424618	38424618	Human	1	name
597652393	CV3722770	single nucleotide variant	NM_023110.3(FGFR1):c.626G>A (p.Arg209His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005041213]	uncertain significance	8	38426241	38426241	Human	1	name
597854316	CV3762475	single nucleotide variant	NM_023110.3(FGFR1):c.694G>T (p.Val232Leu)	not specified [RCV005088391]	uncertain significance	8	38426173	38426173	Human		name
12854275	CV384419	deletion	NM_023110.3(FGFR1):c.1711del (p.Glu571fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000449624]	pathogenic	8	38416013	38416013	Human	1	name
597864780	CV3872500	single nucleotide variant	NM_023110.3(FGFR1):c.644T>C (p.Ile215Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005214775]	uncertain significance	8	38426223	38426223	Human	1	name
598126235	CV3886152	single nucleotide variant	NM_023110.3(FGFR1):c.709G>C (p.Gly237Arg)	not provided [RCV005241955]	uncertain significance	8	38426158	38426158	Human		name
598222781	CV3892259	deletion	NM_023110.3(FGFR1):c.1365del (p.Met456fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005253598]	likely pathogenic	8	38418293	38418293	Human	1	name
598241815	CV3955569	single nucleotide variant	NM_023110.3(FGFR1):c.739G>A (p.Val247Ile)	Inborn genetic diseases [RCV005344414]	uncertain significance	8	38426128	38426128	Human	1	name
616934189	CV4012176	single nucleotide variant	NM_023110.3(FGFR1):c.853C>T (p.Pro285Ser)	not specified [RCV005409210]	uncertain significance	8	38424592	38424592	Human		name
617153671	CV4016745	single nucleotide variant	NM_023110.3(FGFR1):c.865T>G (p.Trp289Gly)	not provided [RCV005415842]	uncertain significance	8	38424580	38424580	Human		name
12894734	CV407379	single nucleotide variant	NM_023110.3(FGFR1):c.836T>G (p.Val279Gly)	not provided [RCV000483935]	likely pathogenic	8	38424609	38424609	Human		name
12894019	CV407380	single nucleotide variant	NM_023110.3(FGFR1):c.752C>T (p.Ser251Phe)	not provided [RCV000481168]	pathogenic\|likely pathogenic	8	38424693	38424693	Human		name
12912749	CV421674	single nucleotide variant	NM_023110.3(FGFR1):c.817G>A (p.Val273Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001851361]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234560]\|not provided [RCV000492969]	pathogenic\|likely pathogenic\|uncertain significance	8	38424628	38424628	Human	1	name
13479193	CV441235	single nucleotide variant	NM_023110.3(FGFR1):c.569G>T (p.Trp190Leu)	not provided [RCV000516914]	uncertain significance	8	38427973	38427973	Human		name
13480330	CV444277	single nucleotide variant	NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)	FGFR1-related disorder [RCV004537871]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002060267]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV004584739]\|not provided [RCV000521203]	pathogenic\|likely benign\|uncertain significance	8	38428408	38428408	Human	2	name , alternate_id
13528606	CV508756	single nucleotide variant	NM_023110.3(FGFR1):c.880G>A (p.Glu294Lys)	Holoprosencephaly sequence [RCV000608240]\|not provided [RCV005241382]	pathogenic\|likely pathogenic	8	38424565	38424565	Human	3	name
13534473	CV513170	single nucleotide variant	NM_023110.3(FGFR1):c.454G>A (p.Ala152Thr)	Hartsfield-Bixler-Demyer syndrome [RCV000625700]	benign	8	38428088	38428088	Human	1	name
13542085	CV513216	single nucleotide variant	NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)	Craniosynostosis syndrome [RCV001163222]\|FGFR1-related disorder [RCV004544815]\|Hartsfield-Bixler-Demyer syndrome [RCV000625740]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000644523]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001 ... (more) 163221]\|Osteoglophonic dysplasia [RCV001163224]\|Trigonocephaly 1 [RCV001163223]\|not provided [RCV001572134]	benign\|likely benign	8	38429736	38429736	Human	8	name , alternate_id
13704974	CV539141	single nucleotide variant	NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys)	FGFR1-related disorder [RCV004533453]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000662313]	pathogenic\|likely pathogenic	8	38426242	38426242	Human	1	name , alternate_id
13809472	CV577062	duplication	NM_023110.3(FGFR1):c.36_42dup (p.Thr15fs)	not provided [RCV000711646]	pathogenic	8	38457404	38457405	Human		name
13835440	CV586699	single nucleotide variant	NM_023110.3(FGFR1):c.403T>A (p.Ser135Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005046992]\|not provided [RCV000731244]	uncertain significance	8	38428391	38428391	Human	1	name
14698743	CV623634	single nucleotide variant	NM_023110.3(FGFR1):c.917C>T (p.Pro306Leu)	Osteoglophonic dysplasia [RCV000787327]	likely pathogenic	8	38424528	38424528	Human	1	name
14744638	CV637202	single nucleotide variant	NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000824229]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234566]\|Inborn genetic diseases [RCV004029174]\|not provided [RCV001557461]	likely benign\|uncertain significance	8	38429690	38429690	Human	2	name
14975360	CV679003	duplication	NM_023110.3(FGFR1):c.2460dup (p.Arg821fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000851573]	likely pathogenic	8	38413636	38413637	Human	1	name
8621925	CV76981	single nucleotide variant	NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser)	Hartsfield-Bixler-Demyer syndrome [RCV000056314]	pathogenic	8	38428048	38428048	Human	1	name
26903338	CV834739	deletion	NM_023110.3(FGFR1):c.1512del (p.Lys504fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001068950]	pathogenic	8	38417910	38417910	Human	1	name
38463741	CV919151	deletion	NM_023110.3(FGFR1):c.1671del (p.Leu557fs)	Encephalocraniocutaneous lipomatosis [RCV001199033]	pathogenic	8	38416053	38416053	Human	1	name
38477850	CV934303	single nucleotide variant	NM_023110.3(FGFR1):c.646A>G (p.Ile216Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001205279]\|not provided [RCV001760168]	uncertain significance	8	38426221	38426221	Human	1	name
38471790	CV934304	single nucleotide variant	NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)	FGFR1-related disorder [RCV004740616]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001213861]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002484165]	uncertain significance	8	38429708	38429708	Human	7	name , alternate_id
41407974	CV962716	duplication	NM_023110.3(FGFR1):c.1820dup (p.Ala608fs)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001281296]	pathogenic	8	38415903	38415904	Human	1	name
38597455	CV963108	single nucleotide variant	NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251090]	likely pathogenic	8	38424558	38424558	Human	1	name
38597457	CV963109	single nucleotide variant	NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251091]\|not provided [RCV001724276]	pathogenic\|likely pathogenic\|uncertain significance	8	38426190	38426190	Human	1	name
126759168	CV992783	single nucleotide variant	NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001299412]	uncertain significance	8	38428088	38428088	Human	1	name
126768729	CV1008027	single nucleotide variant	NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001321531]\|not specified [RCV005232265]	uncertain significance	8	38419586	38419586	Human	1	name
126758578	CV1028541	single nucleotide variant	NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001339887]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002486365]	uncertain significance	8	38413747	38413747	Human	1	name
126773842	CV1028543	single nucleotide variant	NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001346534]	uncertain significance	8	38418315	38418315	Human	1	name
126772882	CV1028544	single nucleotide variant	NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001345874]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002486407]	uncertain significance	8	38421806	38421806	Human	1	name
126914070	CV1037867	single nucleotide variant	NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005040210]\|not provided [RCV001357941]\|not specified [RCV003151307]	uncertain significance	8	38418259	38418259	Human	1	name
127231483	CV1053884	single nucleotide variant	NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001871980]\|not provided [RCV001376140]	likely benign\|uncertain significance	8	38417945	38417945	Human	1	name
150338516	CV1174293	single nucleotide variant	NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001542472]	pathogenic\|likely pathogenic	8	38414216	38414216	Human	1	name
150414995	CV1177027	single nucleotide variant	NM_023110.3(FGFR1):c.2267G>T (p.Arg756Leu)	not provided [RCV001548380]	uncertain significance	8	38413943	38413943	Human		name
150410971	CV1177028	single nucleotide variant	NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001882620]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002495872]\|not provided [RCV001546914]	uncertain significance	8	38417975	38417975	Human	1	name
150419385	CV1180436	single nucleotide variant	NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002501889]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002568326]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234576]\|not provided [RCV001551032]	uncertain significance	8	38418250	38418250	Human	1	name
150422667	CV1180437	single nucleotide variant	NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001882632]\|not provided [RCV001552947]	likely benign\|uncertain significance	8	38419639	38419639	Human	1	name
150425373	CV1184102	single nucleotide variant	NM_023110.3(FGFR1):c.1423C>T (p.Arg475Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005213542]\|not provided [RCV001557913]	uncertain significance	8	38418235	38418235	Human	1	name
150410957	CV1196025	single nucleotide variant	NM_023110.3(FGFR1):c.1388A>G (p.Tyr463Cys)	not provided [RCV001573403]	uncertain significance	8	38418270	38418270	Human		name
150459537	CV1202937	single nucleotide variant	NM_023110.3(FGFR1):c.1936C>T (p.Arg646Trp)	not provided [RCV001586590]	likely pathogenic	8	38414820	38414820	Human		name
150434827	CV1206844	single nucleotide variant	NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001866204]\|not provided [RCV001582193]	likely benign\|uncertain significance	8	38413746	38413746	Human	1	name
150470193	CV1209274	single nucleotide variant	NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val)	FGFR1-related disorder [RCV004741043]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234578]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005225443]\|not provided [RCV001588385]\|not specified [RCV001821923]	likely pathogenic\|uncertain significance	8	38421850	38421850	Human	2	name , alternate_id
150514125	CV1210872	insertion	NM_023110.3(FGFR1):c.92-287_92-286insTGATC	not provided [RCV001598914]	benign	8	38430234	38430235	Human		name
150458166	CV1214312	single nucleotide variant	NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002488437]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005225446]\|not provided [RCV001596882]	uncertain significance	8	38419678	38419678	Human	1	name
150520465	CV1289677	single nucleotide variant	NM_023110.3(FGFR1):c.1006G>A (p.Ala336Thr)	Osteoglophonic dysplasia [RCV001779338]\|Trigonocephaly 1 [RCV001730096]	uncertain significance	8	38421872	38421872	Human	2	name
150545964	CV1291227	single nucleotide variant	NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)	Hartsfield-Bixler-Demyer syndrome [RCV002051952]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003771891]\|not provided [RCV001732716]	likely pathogenic\|uncertain significance	8	38414891	38414891	Human	2	name
150529625	CV1292899	single nucleotide variant	NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002477921]\|not provided [RCV001756292]	uncertain significance	8	38415997	38415997	Human	1	name
150529782	CV1293183	single nucleotide variant	NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002506757]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003771910]\|not provided [RCV001756402]	likely benign\|uncertain significance	8	38413669	38413669	Human	1	name
150530131	CV1293357	single nucleotide variant	NM_023110.3(FGFR1):c.2302G>C (p.Asp768His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234581]\|not provided [RCV001756577]	uncertain significance	8	38413795	38413795	Human	1	name
150530133	CV1293358	single nucleotide variant	NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234582]\|not provided [RCV001756578]	uncertain significance	8	38414231	38414231	Human	1	name
150530135	CV1293359	single nucleotide variant	NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003771912]\|not provided [RCV001756579]	uncertain significance	8	38418309	38418309	Human	1	name
150530665	CV1293421	single nucleotide variant	NM_023110.3(FGFR1):c.2153G>A (p.Arg718His)	not provided [RCV001756642]	conflicting interpretations of pathogenicity\|uncertain significance	8	38414185	38414185	Human		name
150549089	CV1294684	single nucleotide variant	NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002506762]\|not provided [RCV001752176]	conflicting interpretations of pathogenicity\|uncertain significance	8	38413671	38413671	Human	1	name
150555103	CV1295916	single nucleotide variant	NM_023110.3(FGFR1):c.1700G>T (p.Gly567Val)	not provided [RCV001772425]	uncertain significance	8	38416024	38416024	Human		name
150555125	CV1295940	single nucleotide variant	NM_023110.3(FGFR1):c.1616G>A (p.Gly539Glu)	not provided [RCV001772449]\|not specified [RCV005408997]	uncertain significance	8	38417353	38417353	Human		name
150556200	CV1296747	single nucleotide variant	NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln)	FGFR1-related craniosynostosis syndrome [RCV001796998]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234584]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005213572]\|not provided [RCV001774037]	likely pathogenic\|uncertain significance	8	38414625	38414625	Human	2	name
150545864	CV1296964	single nucleotide variant	NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002489763]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003771975]\|not provided [RCV001763255]\|not specified [RCV003479346]	uncertain significance	8	38418325	38418325	Human	1	name
150551131	CV1297193	single nucleotide variant	NM_023110.3(FGFR1):c.1904A>T (p.Asn635Ile)	not provided [RCV001766875]	uncertain significance	8	38414852	38414852	Human		name
150551506	CV1297405	single nucleotide variant	NM_023110.3(FGFR1):c.1900G>A (p.Asp634Asn)	not provided [RCV001767087]	uncertain significance	8	38414856	38414856	Human		name
150550506	CV1298962	single nucleotide variant	NM_023110.3(FGFR1):c.2368T>C (p.Ser790Pro)	not provided [RCV001765756]	uncertain significance	8	38413729	38413729	Human		name
150534702	CV1300698	single nucleotide variant	NM_023110.3(FGFR1):c.1417C>G (p.Leu473Val)	not provided [RCV001758826]	uncertain significance	8	38418241	38418241	Human		name
150541657	CV1301552	single nucleotide variant	NM_023110.3(FGFR1):c.1279G>A (p.Val427Ile)	not provided [RCV001761018]	uncertain significance	8	38419538	38419538	Human		name
150533755	CV1302077	single nucleotide variant	NM_023110.3(FGFR1):c.1120T>G (p.Tyr374Asp)	not provided [RCV001758351]	uncertain significance	8	38419697	38419697	Human		name
150542335	CV1302572	single nucleotide variant	NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001885032]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002488584]\|not provided [RCV001761262]	uncertain significance	8	38413774	38413774	Human	1	name
150553550	CV1303556	single nucleotide variant	NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003772034]\|not provided [RCV001769246]	uncertain significance	8	38414849	38414849	Human	1	name
150550742	CV1305116	single nucleotide variant	NM_023110.3(FGFR1):c.2390C>T (p.Ser797Phe)	not provided [RCV001765896]	uncertain significance	8	38413707	38413707	Human		name
150556833	CV1305797	single nucleotide variant	NM_023110.3(FGFR1):c.1078G>C (p.Glu360Gln)	not provided [RCV001774782]	uncertain significance	8	38421800	38421800	Human		name
151348396	CV1324020	single nucleotide variant	NM_023110.3(FGFR1):c.1471C>T (p.Gln491Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001807932]	likely pathogenic	8	38417951	38417951	Human	1	name
151349665	CV1324443	single nucleotide variant	NM_023110.3(FGFR1):c.1862A>C (p.His621Pro)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001808888]	uncertain significance	8	38414894	38414894	Human	1	name
151350047	CV1324573	single nucleotide variant	NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003772262]\|Osteoglophonic dysplasia [RCV001809018]\|not provided [RCV003442910]	uncertain significance	8	38417411	38417411	Human	2	name
151350050	CV1324574	single nucleotide variant	NM_023110.3(FGFR1):c.1909A>G (p.Met637Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001809019]	uncertain significance	8	38414847	38414847	Human	1	name
151350053	CV1324575	single nucleotide variant	NM_023110.3(FGFR1):c.2044G>A (p.Asp682Asn)	Hartsfield-Bixler-Demyer syndrome [RCV001809020]	likely pathogenic	8	38414563	38414563	Human	1	name
151355678	CV1326810	single nucleotide variant	NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)	FGFR1-related disorder [RCV005419218]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002541949]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003147684]\|not provided [RCV001822020]	pathogenic\|likely pathogenic	8	38414626	38414626	Human	2	name , alternate_id
151662212	CV1332923	single nucleotide variant	NM_023110.3(FGFR1):c.1072G>C (p.Val358Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001837167]	uncertain significance	8	38421806	38421806	Human	1	name
151733641	CV1336600	single nucleotide variant	NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002506866]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002543437]\|Pilomyxoid astrocytoma [RCV001849830]	uncertain significance	8	38416013	38416013	Human	2	name
151781423	CV1357911	single nucleotide variant	NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001875393]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005050443]\|Pfeiffer syndrome [RCV003452061]	uncertain significance	8	38415950	38415950	Human	2	name
151831551	CV1379436	single nucleotide variant	NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001935102]	uncertain significance	8	38413650	38413650	Human	1	name
151865928	CV1381216	single nucleotide variant	NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001905881]	uncertain significance	8	38415953	38415953	Human	1	name
151836048	CV1382995	single nucleotide variant	NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001935567]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002491888]\|not provided [RCV005242126]	likely benign\|uncertain significance	8	38413943	38413943	Human	1	name
151726484	CV1387182	single nucleotide variant	NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001910402]	likely benign\|uncertain significance	8	38417930	38417930	Human	1	name
151722583	CV1414031	single nucleotide variant	NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002020395]	uncertain significance	8	38419717	38419717	Human	1	name
151861720	CV1423430	single nucleotide variant	NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001980200]	uncertain significance	8	38414581	38414581	Human	1	name
151806464	CV1427484	single nucleotide variant	NM_023110.3(FGFR1):c.1244A>G (p.His415Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001899545]	uncertain significance	8	38419573	38419573	Human	1	name
151864144	CV1431504	single nucleotide variant	NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001924391]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002479455]	uncertain significance	8	38419703	38419703	Human	1	name
151726507	CV1445625	single nucleotide variant	NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002040746]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002492357]	likely benign\|uncertain significance	8	38419631	38419631	Human	1	name
151762846	CV1447424	single nucleotide variant	NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001895537]	uncertain significance	8	38416027	38416027	Human	1	name
151745525	CV1461027	single nucleotide variant	NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001871469]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002482669]\|not provided [RCV004699529]	uncertain significance	8	38414010	38414010	Human	1	name
151838759	CV1470434	single nucleotide variant	NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001902586]	uncertain significance	8	38419561	38419561	Human	1	name
151778503	CV1477158	single nucleotide variant	NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001897021]	uncertain significance	8	38416046	38416046	Human	1	name
151787514	CV1479102	single nucleotide variant	NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002046772]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002482425]	uncertain significance	8	38413959	38413959	Human	1	name
151846794	CV1483858	single nucleotide variant	NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001903541]	uncertain significance	8	38413645	38413645	Human	1	name
151740090	CV1492395	single nucleotide variant	NM_023110.3(FGFR1):c.1168A>G (p.Met390Val)	FGFR1-related disorder [RCV004536367]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002042145]\|not provided [RCV003120726]	uncertain significance	8	38419649	38419649	Human	2	name , alternate_id
151853870	CV1501009	single nucleotide variant	NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001958351]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234586]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005397191]	uncertain significance	8	38418249	38418249	Human	1	name
151773300	CV1504785	single nucleotide variant	NM_023110.3(FGFR1):c.2393A>C (p.His798Pro)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002009053]	uncertain significance	8	38413704	38413704	Human	1	name
151758320	CV1510659	single nucleotide variant	NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001948853]	uncertain significance	8	38416003	38416003	Human	1	name
155719721	CV1671832	single nucleotide variant	NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234588]\|Martsolf syndrome 1 [RCV002305662]	uncertain significance	8	38414156	38414156	Human	2	name
153000760	CV1683832	single nucleotide variant	NM_023110.3(FGFR1):c.1252G>T (p.Ala418Ser)	not provided [RCV002254451]	uncertain significance	8	38419565	38419565	Human		name
153348882	CV1692927	single nucleotide variant	NM_023110.3(FGFR1):c.2414C>A (p.Pro805His)	not provided [RCV002274783]	uncertain significance	8	38413683	38413683	Human		name
153349388	CV1693216	single nucleotide variant	NM_023110.3(FGFR1):c.2184G>C (p.Glu728Asp)	not provided [RCV002275789]	uncertain significance	8	38414154	38414154	Human		name
155266758	CV1696364	single nucleotide variant	NM_023110.3(FGFR1):c.2032A>G (p.Thr678Ala)	not provided [RCV002281222]	uncertain significance	8	38414575	38414575	Human		name
155645632	CV1710960	single nucleotide variant	NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)	Hartsfield-Bixler-Demyer syndrome [RCV002294741]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003101705]	pathogenic\|uncertain significance\|no classifications from unflagged records	8	38414834	38414834	Human	2	name
155714892	CV1760387	single nucleotide variant	NM_023110.3(FGFR1):c.1070C>G (p.Thr357Ser)	not provided [RCV002300894]	uncertain significance	8	38421808	38421808	Human		name
155795940	CV1861573	single nucleotide variant	NM_023110.3(FGFR1):c.2314C>A (p.Pro772Thr)	not provided [RCV002469856]	uncertain significance	8	38413783	38413783	Human		name
156305375	CV1868128	single nucleotide variant	NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003062160]	pathogenic	8	38414873	38414873	Human	1	name
156322015	CV1873238	single nucleotide variant	NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003063136]	uncertain significance	8	38419564	38419564	Human	1	name
156373342	CV1874826	single nucleotide variant	NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003066489]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234803]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005045204]	uncertain significance	8	38413636	38413636	Human	1	name
156152887	CV1875229	single nucleotide variant	NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003056598]	uncertain significance	8	38414170	38414170	Human	1	name
10048049	CV192053	single nucleotide variant	NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)	Craniosynostosis syndrome [RCV000356059]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000677340]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001087665]\|Osteoglophonic dysplasia [RCV000316400]\|Trigonocephaly 1 [RCV000264893]\|not provided [RCV000224227]\|not specified [RC ... (more) V000175365]	pathogenic\|benign\|likely benign	8	38413783	38413783	Human	5	name
156443884	CV1941160	single nucleotide variant	NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003114795]	uncertain significance	8	38417902	38417902	Human	1	name
156392275	CV1965009	single nucleotide variant	NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002583984]\|Inborn genetic diseases [RCV004973466]	uncertain significance	8	38418306	38418306	Human	2	name
156300889	CV2017318	single nucleotide variant	NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002716053]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005044950]	uncertain significance	8	38413753	38413753	Human	1	name
156022553	CV2019446	single nucleotide variant	NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002691071]	uncertain significance	8	38414583	38414583	Human	1	name
156321277	CV2025399	single nucleotide variant	NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002717106]\|not specified [RCV003324047]	uncertain significance	8	38417870	38417870	Human	1	name
156117937	CV2042982	single nucleotide variant	NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)	FGFR1-related disorder [RCV004545389]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002800109]\|not specified [RCV003155491]	uncertain significance	8	38418330	38418330	Human	2	name , alternate_id
156107077	CV2045892	single nucleotide variant	NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002785248]	uncertain significance	8	38417903	38417903	Human	1	name
156318243	CV2071189	single nucleotide variant	NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)	FGFR1-related disorder [RCV004545401]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002834533]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234594]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005045009]\|not provide ... (more) d [RCV005251329]	likely pathogenic\|uncertain significance	8	38414231	38414231	Human	7	name , alternate_id
155980627	CV2101769	single nucleotide variant	NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002907689]	uncertain significance	8	38417369	38417369	Human	1	name
156348106	CV2128907	single nucleotide variant	NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002966090]	uncertain significance	8	38419588	38419588	Human	1	name
156152994	CV2131880	single nucleotide variant	NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002982719]	likely pathogenic	8	38414591	38414591	Human	1	name
156159093	CV2138952	single nucleotide variant	NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002982931]	uncertain significance	8	38413944	38413944	Human	1	name
155957088	CV2140257	single nucleotide variant	NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002994955]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234595]	uncertain significance	8	38419547	38419547	Human	1	name
156312343	CV2160490	single nucleotide variant	NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003046104]	uncertain significance	8	38416021	38416021	Human	1	name
156184055	CV2163860	single nucleotide variant	NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003023918]	uncertain significance	8	38413633	38413633	Human	1	name
156357220	CV2166059	single nucleotide variant	NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003031315]	uncertain significance	8	38415899	38415899	Human	1	name
156093477	CV2167196	single nucleotide variant	NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003038305]	uncertain significance	8	38415929	38415929	Human	1	name
155951800	CV2169650	single nucleotide variant	NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003014891]	pathogenic	8	38414559	38414559	Human	1	name
156140151	CV2191739	single nucleotide variant	NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003056151]	uncertain significance	8	38418369	38418369	Human	1	name
11050505	CV224975	single nucleotide variant	NM_023110.3(FGFR1):c.1884T>G (p.Asn628Lys)	Hartsfield-Bixler-Demyer syndrome [RCV000208876]	pathogenic\|not provided	8	38414872	38414872	Human	1	name
11050503	CV224976	single nucleotide variant	NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)	Hartsfield-Bixler-Demyer syndrome [RCV000208873]	pathogenic\|conflicting interpretations of pathogenicity	8	38414876	38414876	Human	1	name
11050504	CV224977	single nucleotide variant	NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg)	Hartsfield-Bixler-Demyer syndrome [RCV000208875]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	38417954	38417954	Human	1	name
155925944	CV2258657	single nucleotide variant	NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234599]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005227836]\|Inborn genetic diseases [RCV002773637]	uncertain significance	8	38413714	38413714	Human	2	name
11059903	CV226759	single nucleotide variant	NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	Encephalocraniocutaneous lipomatosis [RCV000210485]\|Rosette-forming glioneuronal tumor [RCV000487433]	pathogenic\|likely pathogenic	8	38417331	38417331	Human	3	name
11059898	CV226760	single nucleotide variant	NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	Encephalocraniocutaneous lipomatosis [RCV000210479]\|Pilomyxoid astrocytoma [RCV001849345]	pathogenic\|likely pathogenic\|uncertain significance	8	38414790	38414790	Human	2	name
11345105	CV236848	single nucleotide variant	NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys)	Holoprosencephaly sequence [RCV000223865]	pathogenic\|likely pathogenic	8	38414264	38414264	Human	3	name
11345112	CV236850	single nucleotide variant	NM_023110.3(FGFR1):c.1928G>A (p.Gly643Asp)	Microform holoprosencephaly [RCV000223914]	likely pathogenic	8	38414828	38414828	Human	1	name
11345093	CV236851	single nucleotide variant	NM_023110.3(FGFR1):c.1454G>T (p.Gly485Val)	Hartsfield-Bixler-Demyer syndrome [RCV000223739]	likely pathogenic	8	38417968	38417968	Human	1	name
243051679	CV2403892	single nucleotide variant	NM_023110.3(FGFR1):c.1082C>A (p.Ala361Asp)	not provided [RCV003128969]	uncertain significance	8	38419735	38419735	Human		name
243059019	CV2410077	single nucleotide variant	NM_023110.3(FGFR1):c.2243A>G (p.Lys748Arg)	not provided [RCV003147251]	uncertain significance	8	38413967	38413967	Human		name
243059026	CV2410080	single nucleotide variant	NM_023110.3(FGFR1):c.1163C>T (p.Ser388Phe)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005215986]\|not provided [RCV003147254]	uncertain significance	8	38419654	38419654	Human	1	name
243053289	CV2418144	single nucleotide variant	NM_023110.3(FGFR1):c.1550A>C (p.Lys517Thr)	Hartsfield-Bixler-Demyer syndrome [RCV003153210]	likely pathogenic	8	38417872	38417872	Human	1	name
329350600	CV2477399	single nucleotide variant	NM_023110.3(FGFR1):c.2455C>T (p.Leu819Phe)	not provided [RCV003221724]	uncertain significance	8	38413642	38413642	Human		name
11560177	CV259898	single nucleotide variant	NM_023110.3(FGFR1):c.1864C>G (p.Arg622Gly)	not provided [RCV000255867]	pathogenic	8	38414892	38414892	Human		name
329953599	CV2670359	single nucleotide variant	NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234664]	pathogenic	8	38415969	38415969	Human	1	name
329953601	CV2670360	single nucleotide variant	NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234665]	pathogenic	8	38415915	38415915	Human	1	name
329953605	CV2670363	duplication	NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234668]	pathogenic	8	38414793	38414794	Human	1	name
329953608	CV2670365	single nucleotide variant	NM_023110.3(FGFR1):c.1997G>A (p.Trp666Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234670]	pathogenic	8	38414610	38414610	Human	1	name
329953672	CV2670407	single nucleotide variant	NM_023110.3(FGFR1):c.1936C>G (p.Arg646Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234712]	uncertain significance	8	38414820	38414820	Human	1	name
401796521	CV2740686	single nucleotide variant	NM_023110.3(FGFR1):c.2208C>G (p.Cys736Trp)	not provided [RCV003321356]	uncertain significance	8	38414002	38414002	Human		name
401830793	CV2748314	single nucleotide variant	NM_023110.3(FGFR1):c.1709G>A (p.Arg570Gln)	not provided [RCV003329923]	uncertain significance	8	38416015	38416015	Human		name
401914874	CV2830871	single nucleotide variant	NM_023110.3(FGFR1):c.1285G>A (p.Val429Met)	not provided [RCV003442610]	uncertain significance	8	38418373	38418373	Human		name
11603951	CV308988	single nucleotide variant	NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)	Craniosynostosis syndrome [RCV000304983]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000361960]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002502395]\|Infertility disorder [RCV001327949]\|Osteoglophonic dysplasia [RCV000363279]\|Trigonocephaly 1 [RCV000310867]\|not provi ... (more) ded [RCV000757293]	conflicting interpretations of pathogenicity\|uncertain significance	8	38413632	38413632	Human	12	name
11601708	CV308989	single nucleotide variant	NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)	Craniosynostosis syndrome [RCV000337400]\|Craniosynostosis, nonspecific [RCV000408775]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000404673]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000703651]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005398494]\|O ... (more) steoglophonic dysplasia [RCV000284766]\|Trigonocephaly 1 [RCV000343209]\|not provided [RCV001528843]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	38418290	38418290	Human	6	name
329952895	CV31331	single nucleotide variant	NM_023110.3(FGFR1):c.2165C>A (p.Pro722His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234554]	likely pathogenic	8	38414173	38414173	Human	1	name
11598775	CV314205	single nucleotide variant	NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg)	Craniosynostosis syndrome [RCV000298552]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000369604]\|Osteoglophonic dysplasia [RCV000259751]\|Trigonocephaly 1 [RCV000277344]	uncertain significance	8	38417354	38417354	Human	5	name
12741316	CV359732	single nucleotide variant	NM_023110.3(FGFR1):c.1990G>A (p.Val664Met)	not specified [RCV000414726]	uncertain significance	8	38414617	38414617	Human		name
12742177	CV359841	single nucleotide variant	NM_023110.3(FGFR1):c.2062G>C (p.Val688Leu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005222914]\|not provided [RCV000413066]	likely pathogenic\|uncertain significance	8	38414276	38414276	Human	1	name
12836108	CV363307	single nucleotide variant	NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)	Astrocytoma [RCV000443011]\|Glioblastoma [RCV000444182]\|Hepatocellular carcinoma [RCV000422833]\|Lymphoblastic leukemia, acute, with lymphomatous features [RCV000426798]\|Medulloblastoma [RCV000437662]\|Transitional cell carcinoma of the bladder [RCV000433539]	likely pathogenic	8	38414788	38414788	Human	5	name
12837358	CV363308	single nucleotide variant	NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)	Astrocytoma [RCV000424432]\|Brainstem glioma [RCV000435153]\|Gastric adenocarcinoma [RCV000443832]\|Medulloblastoma [RCV000443693]\|Neuroblastoma [RCV000425019]	likely pathogenic	8	38417333	38417333	Human	5	name
12834464	CV363309	single nucleotide variant	NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)	Astrocytoma [RCV000435727]\|Brainstem glioma [RCV000429290]\|Gastric adenocarcinoma [RCV000419230]\|Medulloblastoma [RCV000418590]\|Neuroblastoma [RCV000436467]	likely pathogenic	8	38417879	38417879	Human	5	name
12848774	CV364105	single nucleotide variant	NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002524730]\|not provided [RCV000417937]	pathogenic	8	38417954	38417954	Human	1	name
12849495	CV369471	single nucleotide variant	NM_023110.3(FGFR1):c.2073G>T (p.Trp691Cys)	not provided [RCV000430948]	likely pathogenic	8	38414265	38414265	Human		name
12844400	CV370231	single nucleotide variant	NM_023110.3(FGFR1):c.1660G>A (p.Asp554Asn)	not provided [RCV000437928]	uncertain significance	8	38417309	38417309	Human		name
12849070	CV371858	single nucleotide variant	NM_023110.3(FGFR1):c.2152C>G (p.Arg718Gly)	not provided [RCV000423621]	pathogenic	8	38414186	38414186	Human		name
151764732	CV38475	single nucleotide variant	NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001857786]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234553]	likely pathogenic\|uncertain significance	8	38414166	38414166	Human	1	name
12901390	CV407374	single nucleotide variant	NM_023110.3(FGFR1):c.1838A>G (p.Tyr613Cys)	not provided [RCV000484557]	uncertain significance	8	38415886	38415886	Human		name
12894203	CV407375	single nucleotide variant	NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002526617]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005044726]\|not provided [RCV000481922]	likely pathogenic\|likely benign\|uncertain significance	8	38417374	38417374	Human	1	name
12901511	CV407376	single nucleotide variant	NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys)	FGFR1-related disorder [RCV004740260]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002525951]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005049569]\|not provided [RCV000484860]	uncertain significance	8	38421800	38421800	Human	7	name , alternate_id
12893850	CV407377	single nucleotide variant	NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met)	Hartsfield-Bixler-Demyer syndrome [RCV003168938]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003766656]\|not provided [RCV000480479]	likely pathogenic\|uncertain significance	8	38421859	38421859	Human	2	name
12893312	CV407378	single nucleotide variant	NM_023110.3(FGFR1):c.1010G>A (p.Gly337Glu)	not provided [RCV000478577]	likely pathogenic	8	38421868	38421868	Human		name
12907266	CV415129	single nucleotide variant	NM_023110.3(FGFR1):c.2155A>G (p.Met719Val)	not provided [RCV000490235]	likely pathogenic	8	38414183	38414183	Human		name
12906521	CV415130	single nucleotide variant	NM_023110.3(FGFR1):c.1537G>A (p.Val513Met)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV004820850]\|not provided [RCV000489322]	uncertain significance	8	38417885	38417885	Human	1	name
12912925	CV421673	single nucleotide variant	NM_023110.3(FGFR1):c.2023C>T (p.Arg675Trp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005044742]\|not provided [RCV000493180]	uncertain significance	8	38414584	38414584	Human	1	name
13212372	CV425792	single nucleotide variant	NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001253587]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001857029]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002481592]\|not provided [RCV000498726]	benign\|uncertain significance	8	38417902	38417902	Human	1	name
13216214	CV428839	single nucleotide variant	NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000503490]	likely pathogenic	8	38414279	38414279	Human	1	name
13462530	CV438640	single nucleotide variant	NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002481655]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005222983]\|not provided [RCV000514316]	uncertain significance	8	38418234	38418234	Human	1	name
13480366	CV444274	single nucleotide variant	NM_023110.3(FGFR1):c.1839T>G (p.Tyr613Ter)	not provided [RCV000521212]	pathogenic	8	38415885	38415885	Human		name
13500317	CV458901	single nucleotide variant	NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000540340]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005044823]\|Inborn genetic diseases [RCV002528411]\|not provided [RCV000757294]	likely benign\|uncertain significance	8	38418315	38418315	Human	2	name
13477084	CV472259	single nucleotide variant	NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000560918]	uncertain significance	8	38414004	38414004	Human	1	name
13517565	CV488207	single nucleotide variant	NM_023110.3(FGFR1):c.1604T>A (p.Met535Lys)	Hartsfield-Bixler-Demyer syndrome [RCV000591009]	pathogenic	8	38417365	38417365	Human	1	name
13528970	CV508757	single nucleotide variant	NM_023110.3(FGFR1):c.1921G>A (p.Asp641Asn)	Hartsfield-Bixler-Demyer syndrome [RCV000614143]	pathogenic	8	38414835	38414835	Human	1	name
13534465	CV513166	single nucleotide variant	NM_023110.3(FGFR1):c.1869C>G (p.Asp623Glu)	Hartsfield-Bixler-Demyer syndrome [RCV000625696]	pathogenic	8	38414887	38414887	Human	1	name
13611182	CV514568	single nucleotide variant	NM_023110.3(FGFR1):c.1589C>A (p.Ser530Ter)	not provided [RCV000627342]	pathogenic	8	38417380	38417380	Human		name
13616279	CV523886	single nucleotide variant	NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys)	Craniosynostosis syndrome [RCV001159835]\|FGFR1-related disorder [RCV004533371]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001159836]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002060753]\|Osteoglophonic dysplasia [RCV001159837]\|T ... (more) rigonocephaly 1 [RCV001159834]\|not provided [RCV000644522]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	38413633	38413633	Human	7	name , alternate_id
13705326	CV536337	single nucleotide variant	NM_023110.3(FGFR1):c.2052G>A (p.Trp684Ter)	not provided [RCV000657784]	pathogenic	8	38414286	38414286	Human		name
13801638	CV562414	single nucleotide variant	NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000689540]	uncertain significance	8	38417882	38417882	Human	1	name
13801778	CV562416	single nucleotide variant	NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV000702519]	uncertain significance	8	38421814	38421814	Human	1	name
13804682	CV576331	single nucleotide variant	NM_023110.3(FGFR1):c.1996T>C (p.Trp666Arg)	Hartsfield-Bixler-Demyer syndrome [RCV000710044]	pathogenic	8	38414611	38414611	Human	1	name
13831633	CV582130	single nucleotide variant	NM_023110.3(FGFR1):c.1671G>T (p.Leu557Phe)	not provided [RCV000722312]	uncertain significance	8	38416053	38416053	Human		name
13833987	CV585227	single nucleotide variant	NM_023110.3(FGFR1):c.1138T>C (p.Tyr380His)	not provided [RCV000729386]	uncertain significance	8	38419679	38419679	Human		name
14689309	CV621027	single nucleotide variant	NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser)	Congenital cerebellar hypoplasia [RCV001257986]\|Hartsfield-Bixler-Demyer syndrome [RCV000779636]	pathogenic\|likely pathogenic	8	38414875	38414875	Human	4	name
21404046	CV679934	single nucleotide variant	NM_023110.3(FGFR1):c.1871T>C (p.Leu624Pro)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001004066]	uncertain significance	8	38414885	38414885	Human	1	name
21071716	CV790799	single nucleotide variant	NM_023110.3(FGFR1):c.1469G>T (p.Gly490Val)	Osteoglophonic dysplasia [RCV000988049]	likely pathogenic	8	38417953	38417953	Human	1	name
21074130	CV793281	single nucleotide variant	NM_023110.3(FGFR1):c.1934C>T (p.Ala645Val)	not provided [RCV000991987]	uncertain significance	8	38414822	38414822	Human		name
21406347	CV799538	single nucleotide variant	NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)	Encephalocraniocutaneous lipomatosis [RCV001332494]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001860516]\|not provided [RCV005416437]\|not specified [RCV001002536]	uncertain significance	8	38416030	38416030	Human	2	name
26901016	CV834738	single nucleotide variant	NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001055318]	uncertain significance	8	38417314	38417314	Human	1	name
28910233	CV899485	single nucleotide variant	NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)	Craniosynostosis syndrome [RCV001161240]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001161243]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001859044]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005047324]\|Osteoglophonic dysplasia [RCV001161242]\|Trigon ... (more) ocephaly 1 [RCV001161241]	benign\|likely benign\|uncertain significance	8	38413698	38413698	Human	5	name
28873384	CV899486	single nucleotide variant	NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)	Craniosynostosis syndrome [RCV001164861]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001164860]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002557412]\|Osteoglophonic dysplasia [RCV001164859]\|Trigonocephaly 1 [RCV001164858]\|not provided [RCV002282465]	uncertain significance	8	38413938	38413938	Human	5	name
28869254	CV899489	single nucleotide variant	NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala)	Craniosynostosis syndrome [RCV001163006]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001163007]\|Osteoglophonic dysplasia [RCV001163005]\|Trigonocephaly 1 [RCV001163008]	uncertain significance	8	38419553	38419553	Human	5	name
38462603	CV919152	single nucleotide variant	NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)	Encephalocraniocutaneous lipomatosis [RCV001198551]\|FGFR1-related disorder [RCV004538434]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV002480649]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234571]	uncertain significance	8	38418316	38418316	Human	7	name , alternate_id
38479151	CV925198	single nucleotide variant	NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001216941]	uncertain significance	8	38413669	38413669	Human	1	name
38488696	CV925199	single nucleotide variant	NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001221361]	likely pathogenic	8	38417377	38417377	Human	1	name
38458314	CV946062	single nucleotide variant	NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001228910]	uncertain significance	8	38418339	38418339	Human	1	name
38597450	CV963106	single nucleotide variant	NM_023110.3(FGFR1):c.1823C>A (p.Ala608Asp)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251087]	pathogenic	8	38415901	38415901	Human	1	name
38597454	CV963107	single nucleotide variant	NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251089]	likely pathogenic	8	38421835	38421835	Human	1	name
126729168	CV985736	single nucleotide variant	NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001293690]\|not provided [RCV003325559]	likely pathogenic	8	38414200	38414200	Human	1	name
9693641	CV178334	single nucleotide variant	NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg)	FGFR1-related disorder [RCV004535018]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001251086]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005222785]\|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000156967]\|not provide ... (more) d [RCV001795280]	pathogenic\|likely pathogenic	8	38414279	38414279	Human	3	alternate_id
329953688	CV2670418	single nucleotide variant	NM_023110.3(FGFR1):c.2233C>T (p.Pro745Ser)	FGFR1-related disorder [RCV004529615]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234723]	likely pathogenic	8	38413977	38413977	Human	1	alternate_id
329954873	CV2670805	single nucleotide variant	NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr)	FGFR1-related disorder [RCV003396969]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005047482]\|not provided [RCV003236073]	uncertain significance	8	38418306	38418306	Human	7	alternate_id
401906368	CV2802707	deletion	NM_023110.3(FGFR1):c.280_283del (p.Ala94fs)	FGFR1-related disorder [RCV004536721]	likely pathogenic	8	38429757	38429760	Human		trait , alternate_id
402522926	CV3088267	single nucleotide variant	NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)	FGFR1-related disorder [RCV004539137]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003790603]	uncertain significance	8	38413749	38413749	Human	2	alternate_id
408371454	CV3503890	single nucleotide variant	NM_023110.3(FGFR1):c.1264C>T (p.Pro422Ser)	FGFR1-related disorder [RCV004724709]	uncertain significance	8	38419553	38419553	Human		trait , alternate_id
408379363	CV3506817	deletion	NM_023110.3(FGFR1):c.1569_1572del (p.Lys523fs)	FGFR1-related disorder [RCV004728342]	pathogenic	8	38417397	38417400	Human		trait , alternate_id
408370090	CV3507976	single nucleotide variant	NM_023110.3(FGFR1):c.1321G>T (p.Val441Phe)	FGFR1-related disorder [RCV004739059]	uncertain significance	8	38418337	38418337	Human		trait , alternate_id
408370113	CV3508154	single nucleotide variant	NM_023110.3(FGFR1):c.1816C>T (p.Gln606Ter)	FGFR1-related disorder [RCV004739086]	likely pathogenic	8	38415908	38415908	Human		trait , alternate_id
8572448	CV59835	single nucleotide variant	NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg)	FGFR1-related disorder [RCV004537181]\|Hypogonadotropic hypogonadism 2 with anosmia [RCV000043588]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV001542473]\|not provided [RCV000319353]	pathogenic\|risk factor	8	38421836	38421836	Human	1	alternate_id
8611966	CV59838	single nucleotide variant	NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys)	FGFR1-related disorder [RCV004739327]\|Hypogonadotropic hypogonadism 2 with anosmia [RCV000043591]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234545]\|Hypogonadotropic hypogonadism 2 with or without anosmia [RCV005222729]	pathogenic\|risk factor	8	38414599	38414599	Human	2	alternate_id
329953596	CV2670357	single nucleotide variant	NM_023110.3(FGFR1):c.1684G>T (p.Glu562Ter)	Hypogonadotropic hypogonadism 2 with or without anosmia [RCV003234662]	pathogenic	8	38416040	38416040	Human	1	name

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