ClinVar for MedGen (Select 67390) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24267961.	NC_000008.10:g.(?_38314854)_(38314964_?)del GRCh37: Chr8:38314854-38314964	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Pathogenic (Oct 20, 2021)	criteria provided, single submitter
Select item 24256922.	NC_000008.10:g.(?_37595441)_(38961219_?)dup GRCh37: Chr8:37595441-38961219	ADAM9, ADRB3, ASH2L, ADGRA2, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Spastic paraplegia, Hereditary spastic paraplegia 54	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 24173263.	NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu) GRCh37: Chr8:38275420 GRCh38: Chr8:38417902	FGFR1	R414L, R416L, R418L, R497L, R503L, R505L, R507L, R538L	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 24161794.	NM_023110.3(FGFR1):c.1431-7C>T GRCh37: Chr8:38275516 GRCh38: Chr8:38417998	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 24150855.	NM_023110.3(FGFR1):c.342C>T (p.Phe114=) GRCh37: Chr8:38287216 GRCh38: Chr8:38429698	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 21987446.	NM_023110.3(FGFR1):c.2293-12C>T GRCh37: Chr8:38271334 GRCh38: Chr8:38413816	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 21978047.	NM_023110.3(FGFR1):c.92-13G>T GRCh37: Chr8:38287479 GRCh38: Chr8:38429961	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 21916268.	NM_023110.3(FGFR1):c.849G>A (p.Pro283=) GRCh37: Chr8:38282114 GRCh38: Chr8:38424596	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 21900299.	NM_023110.3(FGFR1):c.1194G>A (p.Lys398=) GRCh37: Chr8:38277141 GRCh38: Chr8:38419623	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 219001510.	NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser) GRCh37: Chr8:38283666 GRCh38: Chr8:38426148	FGFR1	N240S, N271S, N149S, N238S, N232S, N151S	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218888111.	NM_023110.3(FGFR1):c.2186+20G>A GRCh37: Chr8:38271650 GRCh38: Chr8:38414132	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 218357912.	NM_023110.3(FGFR1):c.1664-18C>T GRCh37: Chr8:38273596 GRCh38: Chr8:38416078	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 217851213.	NM_023110.3(FGFR1):c.162C>G (p.Arg54=) GRCh37: Chr8:38287396 GRCh38: Chr8:38429878	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 217267514.	NM_023110.3(FGFR1):c.1329G>A (p.Leu443=) GRCh37: Chr8:38275847 GRCh38: Chr8:38418329	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 217048415.	NM_023110.3(FGFR1):c.228C>T (p.Ser76=) GRCh37: Chr8:38287330 GRCh38: Chr8:38429812	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 216171416.	NM_023110.3(FGFR1):c.2292+12C>T GRCh37: Chr8:38271424 GRCh38: Chr8:38413906	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215998517.	NM_023110.3(FGFR1):c.2186+9G>A GRCh37: Chr8:38271661 GRCh38: Chr8:38414143	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 215520718.	NM_023110.3(FGFR1):c.358+19C>A GRCh37: Chr8:38287181 GRCh38: Chr8:38429663	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 215518119.	NM_023110.3(FGFR1):c.321G>A (p.Ser107=) GRCh37: Chr8:38287237 GRCh38: Chr8:38429719	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 215473520.	NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp) GRCh37: Chr8:38285912-38285913 GRCh38: Chr8:38428394-38428395	FGFR1		not provided, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Nov 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215229221.	NM_023110.3(FGFR1):c.1082-12G>A GRCh37: Chr8:38277265 GRCh38: Chr8:38419747	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 214483622.	NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val) GRCh37: Chr8:38277082 GRCh38: Chr8:38419564	FGFR1	A327V, A416V, A449V, A329V, A410V, A418V	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 214386823.	NM_023110.3(FGFR1):c.1854+17C>G GRCh37: Chr8:38273371 GRCh38: Chr8:38415853	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 214155524.	NM_023110.3(FGFR1):c.91+20C>T GRCh37: Chr8:38314854 GRCh38: Chr8:38457336	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 214145225.	NM_023110.3(FGFR1):c.1978-15C>T GRCh37: Chr8:38272162 GRCh38: Chr8:38414644	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 214073126.	NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn) GRCh37: Chr8:38271688 GRCh38: Chr8:38414170	FGFR1	S634N, S754N, S630N, S719N, S721N, S632N, S713N, S723N	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 213903127.	NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys) GRCh37: Chr8:38271154 GRCh38: Chr8:38413636	FGFR1	R817C, R821C, R728C, R811C, R852C, R730C, R732C, R819C	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213666128.	NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe) GRCh37: Chr8:38287256 GRCh38: Chr8:38429738	FGFR1	C93F, C101F, C134F	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 213666029.	NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser) GRCh37: Chr8:38272391 GRCh38: Chr8:38414873	FGFR1	N539S, N628S, N626S, N535S, N537S, N618S, N624S, N659S	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Pathogenic (Oct 20, 2022)	criteria provided, single submitter
Select item 213290030.	NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe) GRCh37: Chr8:38275887 GRCh38: Chr8:38418369	FGFR1	S428F, S430F, S337F, S339F, S420F, S341F, S426F, S461F	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 212705031.	NM_023110.3(FGFR1):c.2394_2395del (p.His798fs) GRCh37: Chr8:38271220-38271221 GRCh38: Chr8:38413702-38413703	FGFR1	H705fs, H788fs, H798fs, H707fs, H796fs, H709fs, H829fs	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212613032.	NM_023110.3(FGFR1):c.362C>T (p.Ala121Val) GRCh37: Chr8:38285950 GRCh38: Chr8:38428432	FGFR1	A32V, A113V, A154V, A121V	FGFR1-related condition, Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Apr 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212555233.	NM_023110.3(FGFR1):c.2061G>C (p.Gly687=) GRCh37: Chr8:38271795 GRCh38: Chr8:38414277	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212219434.	NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=) GRCh37: Chr8:38273526 GRCh38: Chr8:38416008	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 211341635.	NM_023110.3(FGFR1):c.1443C>T (p.Gly481=) GRCh37: Chr8:38275497 GRCh38: Chr8:38417979	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 211166936.	NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser) GRCh37: Chr8:38273539 GRCh38: Chr8:38416021	FGFR1	N475S, N558S, N599S, N479S, N568S, N564S, N566S, N477S	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 211128537.	NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser) GRCh37: Chr8:38271151 GRCh38: Chr8:38413633	FGFR1	R853S, R731S, R812S, R818S, R820S, R729S, R733S, R822S	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210933138.	NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn) GRCh37: Chr8:38273447 GRCh38: Chr8:38415929	FGFR1	D510N, D508N, D589N, D595N, D599N, D630N, D506N, D597N	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210529839.	NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly) GRCh37: Chr8:38272077 GRCh38: Chr8:38414559	FGFR1	V673G, V679G, V683G, V594G, V714G, V590G, V592G, V681G	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 210525040.	NM_023110.3(FGFR1):c.936+7A>G GRCh37: Chr8:38282020 GRCh38: Chr8:38424502	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 210463441.	NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn) GRCh37: Chr8:38287322 GRCh38: Chr8:38429804	FGFR1	T112N, T79N, T71N	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210430242.	NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly) GRCh37: Chr8:38273417 GRCh38: Chr8:38415899	FGFR1	R599G, R516G, R518G, R605G, R607G, R609G, R520G, R640G	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 210323643.	NM_023110.3(FGFR1):c.597T>C (p.Pro199=) GRCh37: Chr8:38285463 GRCh38: Chr8:38427945	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210155944.	NM_023110.3(FGFR1):c.2187-13A>G GRCh37: Chr8:38271554 GRCh38: Chr8:38414036	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 209734645.	NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs) GRCh37: Chr8:38274917-38274918 GRCh38: Chr8:38417399-38417400	FGFR1	D431fs, D433fs, D435fs, D514fs, D555fs, D520fs, D524fs, D522fs	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 208491446.	NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys) GRCh37: Chr8:38277065 GRCh38: Chr8:38419547	FGFR1	R424C, R455C, R333C, R335C, R416C, R422C	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208257147.	NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile) GRCh37: Chr8:38287313 GRCh38: Chr8:38429795	FGFR1	T82I, T115I, T74I	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 207973148.	NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys) GRCh37: Chr8:38271462 GRCh38: Chr8:38413944	FGFR1	R667C, R746C, R752C, R756C, R787C, R663C, R665C, R754C	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 207911349.	NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe) GRCh37: Chr8:38272109 GRCh38: Chr8:38414591	FGFR1	L583F, L662F, L579F, L581F, L668F, L672F, L703F, L670F	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 207806450.	NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys) GRCh37: Chr8:38285443 GRCh38: Chr8:38427925	FGFR1	Y206C, Y237C, Y115C, Y204C, Y117C, Y198C	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 207658551.	NM_023110.3(FGFR1):c.1977+15G>A GRCh37: Chr8:38272282 GRCh38: Chr8:38414764	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 207655252.	NM_023110.3(FGFR1):c.1686G>A (p.Glu562=) GRCh37: Chr8:38273556 GRCh38: Chr8:38416038	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 207273653.	NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn) GRCh37: Chr8:38287247 GRCh38: Chr8:38429729	FGFR1	S137N, S96N, S104N	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 206735054.	NM_023110.3(FGFR1):c.1663+20G>A GRCh37: Chr8:38274804 GRCh38: Chr8:38417286	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 206622255.	NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn) GRCh37: Chr8:38277106 GRCh38: Chr8:38419588	FGFR1	S319N, S408N, S410N, S441N, S321N, S402N	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 205504656.	NM_023110.3(FGFR1):c.222G>A (p.Ala74=) GRCh37: Chr8:38287336 GRCh38: Chr8:38429818	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 205499257.	NM_023110.3(FGFR1):c.936+13C>T GRCh37: Chr8:38282014 GRCh38: Chr8:38424496	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 205449558.	NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr) GRCh37: Chr8:38287290 GRCh38: Chr8:38429772	FGFR1	D123Y, D82Y, D90Y	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 204959059.	NM_023110.3(FGFR1):c.1855-8T>C GRCh37: Chr8:38272427 GRCh38: Chr8:38414909	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 204804760.	NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe) GRCh37: Chr8:38287266 GRCh38: Chr8:38429748	FGFR1	L90F, L98F, L131F	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 204804561.	NM_023110.3(FGFR1):c.2293-12C>G GRCh37: Chr8:38271334 GRCh38: Chr8:38413816	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 204390062.	NM_023110.3(FGFR1):c.2048+13T>C GRCh37: Chr8:38272064 GRCh38: Chr8:38414546	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 204318463.	NM_023110.3(FGFR1):c.1020G>A (p.Thr340=) GRCh37: Chr8:38279376 GRCh38: Chr8:38421858	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 203870264.	NM_023110.3(FGFR1):c.1600A>G (p.Met534Val) GRCh37: Chr8:38274887 GRCh38: Chr8:38417369	FGFR1	M565V, M445V, M524V, M530V, M441V, M443V, M532V, M534V	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 203086965.	NM_023110.3(FGFR1):c.2186+11G>A GRCh37: Chr8:38271659 GRCh38: Chr8:38414141	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 202932566.	NM_023110.3(FGFR1):c.780del (p.Leu261fs) GRCh37: Chr8:38282183 GRCh38: Chr8:38424665	FGFR1	L170fs, L292fs, L172fs, L259fs, L261fs, L253fs	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 201385867.	NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal) GRCh37: Chr8:38274893-38274895 GRCh38: Chr8:38417375-38417377	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 201325268.	NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser) GRCh37: Chr8:38271749 GRCh38: Chr8:38414231	FGFR1	G610S, G612S, G701S, G614S, G693S, G699S, G703S, G734S	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Conflicting interpretations of pathogenicity (May 4, 2023)	criteria provided, conflicting interpretations
Select item 201313769.	NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu) GRCh37: Chr8:38287277 GRCh38: Chr8:38429759	FGFR1	A86E, A94E, A127E	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 201112370.	NM_023110.3(FGFR1):c.625del (p.Arg209fs) GRCh37: Chr8:38283760 GRCh38: Chr8:38426242	FGFR1	R118fs, R207fs, R120fs, R209fs, R201fs, R240fs	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 200019071.	NM_023110.3(FGFR1):c.991G>T (p.Val331Phe) GRCh37: Chr8:38279405 GRCh38: Chr8:38421887	FGFR1	V240F, V242F, V329F, V331F, V323F, V362F	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 199742272.	NM_023110.3(FGFR1):c.111del (p.Val38fs) GRCh37: Chr8:38287447 GRCh38: Chr8:38429929	FGFR1	V30fs, V38fs, V71fs	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 199592673.	NM_023110.3(FGFR1):c.2370A>G (p.Ser790=) GRCh37: Chr8:38271245 GRCh38: Chr8:38413727	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 199213174.	NM_023110.3(FGFR1):c.957C>T (p.Thr319=) GRCh37: Chr8:38279439 GRCh38: Chr8:38421921	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 198436575.	NM_023110.3(FGFR1):c.1011G>A (p.Gly337=) GRCh37: Chr8:38279385 GRCh38: Chr8:38421867	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 198382776.	NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro) GRCh37: Chr8:38275848 GRCh38: Chr8:38418330	FGFR1	L350P, L354P, L439P, L433P, L441P, L474P, L352P, L443P	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, not specified	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 198254877.	NM_023110.3(FGFR1):c.92-6C>G GRCh37: Chr8:38287472 GRCh38: Chr8:38429954	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 198152678.	NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys) GRCh37: Chr8:38275421 GRCh38: Chr8:38417903	FGFR1	R418C, R497C, R416C, R505C, R538C, R414C, R503C, R507C	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 197626479.	NM_023110.3(FGFR1):c.91+19G>T GRCh37: Chr8:38314855 GRCh38: Chr8:38457337	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 196933480.	NM_023110.3(FGFR1):c.1932C>T (p.Leu644=) GRCh37: Chr8:38272342 GRCh38: Chr8:38414824	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 196926181.	NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala) GRCh37: Chr8:38275388 GRCh38: Chr8:38417870	FGFR1	S518A, S549A, S425A, S508A, S427A, S429A, S514A, S516A	not specified, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 196388082.	NM_023110.3(FGFR1):c.1431-10C>T GRCh37: Chr8:38275519 GRCh38: Chr8:38418001	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 196364783.	NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn) GRCh37: Chr8:38271271 GRCh38: Chr8:38413753	FGFR1	D691N, D772N, D813N, D689N, D693N, D778N, D780N, D782N	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 196252384.	NM_023110.3(FGFR1):c.303C>T (p.Cys101=) GRCh37: Chr8:38287255 GRCh38: Chr8:38429737	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome, not provided	Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 195802185.	NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln) GRCh37: Chr8:38272101 GRCh38: Chr8:38414583	FGFR1	R671Q, R673Q, R586Q, R675Q, R582Q, R584Q, R665Q, R706Q	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 195271886.	NM_023110.3(FGFR1):c.1977+20C>T GRCh37: Chr8:38272277 GRCh38: Chr8:38414759	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 193771287.	NM_023110.3(FGFR1):c.1245C>T (p.His415=) GRCh37: Chr8:38277090 GRCh38: Chr8:38419572	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 193582988.	NM_023110.3(FGFR1):c.1854+14A>C GRCh37: Chr8:38273374 GRCh38: Chr8:38415856	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 193582889.	NM_023110.3(FGFR1):c.1854+15_1854+31del GRCh37: Chr8:38273357-38273373 GRCh38: Chr8:38415839-38415855	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 191997890.	NM_023110.3(FGFR1):c.1494C>T (p.Ile498=) GRCh37: Chr8:38275446 GRCh38: Chr8:38417928	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 190780391.	NM_023110.3(FGFR1):c.1473G>A (p.Gln491=) GRCh37: Chr8:38275467 GRCh38: Chr8:38417949	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 190607292.	NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys) GRCh37: Chr8:38275824 GRCh38: Chr8:38418306	FGFR1	S441C, S449C, S358C, S360C, S362C, S447C, S482C, S451C	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 190226093.	NM_023110.3(FGFR1):c.358+11A>G GRCh37: Chr8:38287189 GRCh38: Chr8:38429671	FGFR1		Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 189657494.	NM_023110.3(FGFR1):c.621+5G>A GRCh37: Chr8:38285434 GRCh38: Chr8:38427916	FGFR1		Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 172155695.	NM_023110.3(FGFR1):c.179A>T (p.Asp60Val) GRCh37: Chr8:38287379 GRCh38: Chr8:38429861	FGFR1	D52V, D60V, D93V	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 172113796.	NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys) GRCh37: Chr8:38287320 GRCh38: Chr8:38429802	FGFR1	R113C, R72C, R80C	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 171451397.	NM_023110.3(FGFR1):c.425A>T (p.Asp142Val) GRCh37: Chr8:38285887 GRCh38: Chr8:38428369	FGFR1	D134V, D142V, D175V, D53V	Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 171268598.	NM_023110.3(FGFR1):c.449-6G>A GRCh37: Chr8:38285617 GRCh38: Chr8:38428099	FGFR1		not provided, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171248699.	NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly) GRCh37: Chr8:38272352 GRCh38: Chr8:38414834	FGFR1	D548G, D550G, D552G, D631G, D637G, D639G, D641G, D672G	Hartsfield-Bixler-Demyer syndrome, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 1684098100.	NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) GRCh37: Chr8:38314957 GRCh38: Chr8:38457439	FGFR1	S36N, S3N	Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Jackson-Weiss syndrome, Encephalocraniocutaneous lipomatosis, Hartsfield-Bixler-Demyer syndrome, Trigonocephaly 1, Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, not provided	Uncertain significance (Nov 7, 2023)	criteria provided, multiple submitters, no conflicts

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