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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: acrocephalopolysyndactyly (MONDO:0000078)
Parent Node: craniostenosis associated with a strabismus (MONDO:0020254)
..Starting node ..Pfeiffer syndrome ()
Child Nodes:
........Pfeiffer syndrome type 1 ()
........Pfeiffer syndrome type 2 ()
........Pfeiffer syndrome type 3 ()
Sister Nodes:
..apert syndrome ()
..Crouzon syndrome ()
..Crouzon syndrome-acanthosis nigricans syndrome ()
..isolated brachycephaly ()
..isolated oxycephaly ()
..isolated plagiocephaly ()
..isolated scaphocephaly ()
..isolated trigonocephaly ()
..Pfeiffer syndrome ()
..Saethre-Chotzen syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7043

Name:

Pfeiffer syndrome

Definition:

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.

Alternative IDs:

101600

ParentIDs:

TreeNumbers:

Synonyms:

acrocephalosyndactylia type V; acrocephalosyndactyly type 5; acrocephalosyndactyly type V; acrocephalosyndactyly, type 5; ACS 5; ACS5; craniofacial-skeletal-Dermatologic dysplasia; Noack syndrome; Pfeiffer syndrome; Pfeiffer type acrocephalosyndactyly; type V Acrocephalosyndactyly

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 101600;
MSeqDR :
Genes: FGFR1; FGFR2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002308	Arnold-Chiari malformation
3	HP:0000244	Brachyturricephaly
4	HP:0010055	Broad hallux
5	HP:0011304	Broad thumb
6	HP:0002780	Bronchomalacia
7	HP:0005347	Cartilaginous trachea
8	HP:0000453	Choanal atresia
9	HP:0000452	Choanal stenosis
10	HP:0002676	Cloverleaf skull	HP:0040283
11	HP:0004440	Coronal craniosynostosis
12	HP:0000678	Dental crowding
13	HP:0005280	Depressed nasal bridge
14	HP:0000494	Downslanted palpebral fissures
15	HP:0003070	Elbow ankylosis
16	HP:0006101	Finger syndactyly
17	HP:0000218	High palate
18	HP:0003041	Humeroradial synostosis
19	HP:0000238	Hydrocephalus
20	HP:0000316	Hypertelorism
21	HP:0000327	Hypoplasia of the maxilla
22	HP:0001249	Intellectual disability
23	HP:0000303	Mandibular prognathia
24	HP:0000586	Shallow orbits
25	HP:0003795	Short middle phalanx of toe
26	HP:0003196	Short nose
27	HP:0006110	Shortening of all middle phalanges of the fingers
28	HP:0000486	Strabismus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)	2260	FGFR1	Pathogenic/Likely pathogenic	776264072	RCV001822020\|RCV002541949\|RCV003147684;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38272144	38272144	38272144	-
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)	2260	FGFR1	Pathogenic/Likely pathogenic	121909634	RCV000017682\|RCV002254904\|RCV002514106;	N	MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250, Orphanet:2645\|MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277194	38277194	8:g.38277194A>G	ClinGen:CA126356,UniProtKB:P11362#VAR_030994,OMIM:136350.0010,OMIM:136350.0012	C0432283 166250 Osteoglophonic dysplasia;
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	2260	FGFR1	Pathogenic/Likely pathogenic	1554570813	RCV000593963\|RCV000644518\|RCV002483651;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38287344	38287344	8:g.38287344G>A	ClinGen:CA370736417	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)	2260	FGFR1	Pathogenic	-1	RCV003014891;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272077	38272077	NC_000008.10:g.38272077A>C	-
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)	2260	FGFR1	Pathogenic	-1	RCV003062160;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272391	38272391	NC_000008.10:g.38272391T>C	-
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)	2260	FGFR1	Pathogenic	-1	RCV003016646;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274917	38274918	NC_000008.10:g.38274919_38274920dup	-
NM_023110.3(FGFR1):c.1512del (p.Lys504fs)	2260	FGFR1	Pathogenic	1817280576	RCV001068950;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275428	38275428	8:g.38275428_38275428del	-
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg)	2260	FGFR1	Pathogenic	869025670	RCV000417937\|RCV002524730;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275472	38275472	8:g.38275472C>T	ClinGen:CA16603309	CN517202 not provided;
NM_023110.3(FGFR1):c.1430+1G>A	2260	FGFR1	Pathogenic	1554552774	RCV000552321;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275745	38275745	8:g.38275745C>T	ClinGen:CA370733169	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs)	2260	FGFR1	Pathogenic	2150705198	RCV001931031;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277069	38277070	38277069	-
NM_023110.3(FGFR1):c.979_983del (p.His327fs)	2260	FGFR1	Pathogenic	2150757205	RCV001387445;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38279413	38279417	38279412	-
NC_000008.11:g.(?_38424489)_(38461126_?)del	2260	FGFR1	Pathogenic	-1	RCV001032928;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38282007	38318644	-1	-
NM_023110.3(FGFR1):c.780del (p.Leu261fs)	2260	FGFR1	Pathogenic	-1	RCV002880767;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282183	38282183	NC_000008.10:g.38282185del	-
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)	2260	FGFR1	Pathogenic	121909627	RCV000017670\|RCV000017669\|RCV000644520\|RCV001200303\|RCV002496391;	Y	MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C	8	38282208	38282208	8:g.38282208G>C	ClinGen:CA280217,UniProtKB:P11362#VAR_004111,OMIM:136350.0001	C0795998 123150 Jackson-Weiss syndrome;
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)	2260	FGFR1	Pathogenic	121909645	RCV000030940\|RCV002514107;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282214	38282214	8:g.38282214C>T	ClinGen:CA260625,UniProtKB:P11362#VAR_069291,OMIM:136350.0025	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.625del (p.Arg209fs)	2260	FGFR1	Pathogenic	-1	RCV002829268;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38283760	38283760	NC_000008.10:g.38283761del	-
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)	2260	FGFR1	Pathogenic	-1	RCV003037292;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287256	38287256	NC_000008.10:g.38287256C>A	-
NM_023110.3(FGFR1):c.111del (p.Val38fs)	2260	FGFR1	Pathogenic	-1	RCV002824004;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287447	38287447	NC_000008.10:g.38287447del	-
NC_000008.10:g.(?_38314854)_(38314964_?)del	2260	FGFR1	Pathogenic	-1	RCV003122629;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38314854	38314964		-
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)	2260	FGFR1	Likely pathogenic	-1	RCV002982719;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272109	38272109	NC_000008.10:g.38272109T>A	-
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly)	2260	FGFR1	Likely pathogenic	1817052708	RCV001221361;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38274895	38274895	8:g.38274895T>C	-
NM_023110.3(FGFR1):c.622-2A>G	2260	FGFR1	Likely pathogenic	2150866757	RCV001998653;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38283765	38283765	38283765	-
NM_023110.3(FGFR1):c.448+1G>A	2260	FGFR1	Likely pathogenic	376416531	RCV000810317\|RCV002507407;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38285863	38285863	8:g.38285863C>T	-
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)	2260	FGFR1	Uncertain significance	-1	RCV003023918;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271151	38271151	NC_000008.10:g.38271151G>T	-
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)	2260	FGFR1	Uncertain significance	-1	RCV003066489\|RCV003234803;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271154	38271154	NC_000008.10:g.38271154G>A	-
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg)	2260	FGFR1	Uncertain significance	17182456	RCV001903541;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271163	38271163	38271163	-
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser)	2260	FGFR1	Uncertain significance	1815142188	RCV001935102;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271168	38271168	38271168	-
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=)	2260	FGFR1	Likely benign	770921947	RCV002076183;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271182	38271182	38271182	-
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)	2260	FGFR1	Uncertain significance	759376422	RCV001216941;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271187	38271187	8:g.38271187G>T	-
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)	2260	FGFR1	Benign/Likely benign	374507681	RCV001521216\|RCV002478965;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38271191	38271191	8:g.38271191G>C	-
NM_023110.3(FGFR1):c.2406C>T (p.Pro802=)	2260	FGFR1	Likely benign	573344794	RCV001972433;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271209	38271209	38271209	-
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=)	2260	FGFR1	Likely benign	780308433	RCV002195530;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271215	38271215	38271215	-
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)	2260	FGFR1	Uncertain significance	-1	RCV003051969;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271220	38271221	NC_000008.10:g.38271220_38271221del	-
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro)	2260	FGFR1	Uncertain significance	755160898	RCV002009053;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271222	38271222	38271222	-
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)	2260	FGFR1	Uncertain significance	767698667	RCV002050495\|RCV003227040\|RCV002506873;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:C3661900\|7 conditions	8	38271244	38271245	38271243	-
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)	2260	FGFR1	Likely benign	-1	RCV002801664;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271245	38271245		-
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)	2260	FGFR1	Conflicting interpretations of pathogenicity	746602135	RCV001582193\|RCV001866204;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271264	38271264	38271264	-
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)	2260	FGFR1	Uncertain significance	377149398	RCV001339887\|RCV002486365;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271265	38271265	38271265	-
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)	2260	FGFR1	Uncertain significance	-1	RCV002716053;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271271	38271271	NC_000008.10:g.38271271C>T	-
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)	2260	FGFR1	Likely benign	763571736	RCV000867615\|RCV002063561\|RCV002502577;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38271284	38271284	8:g.38271284G>C	ClinGen:CA4718099	CN169374 not specified;
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)	2260	FGFR1	Uncertain significance	1232665126	RCV001761262\|RCV001885032\|RCV002488584;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38271292	38271292	38271292	-
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)	2260	FGFR1	Likely benign	376173540	RCV000863134\|RCV001462522\|RCV002501219;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271317	38271317	8:g.38271317G>A	-
NM_023110.3(FGFR1):c.2293-12C>T	2260	FGFR1	Likely benign	-1	RCV002633844;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271334	38271334	NC_000008.10:g.38271334G>A	-
NM_023110.3(FGFR1):c.2293-12C>G	2260	FGFR1	Likely benign	-1	RCV002927007;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271334	38271334	NC_000008.10:g.38271334G>C	-
NM_023110.3(FGFR1):c.2292+12C>T	2260	FGFR1	Likely benign	-1	RCV003089634;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271424	38271424	NC_000008.10:g.38271424G>A	-
NM_023110.3(FGFR1):c.2292+9G>A	2260	FGFR1	Likely benign	2150517873	RCV002175235;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271427	38271427	38271427	-
NM_023110.3(FGFR1):c.2292+6G>T	2260	FGFR1	Uncertain significance	905873179	RCV001039973;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271430	38271430	8:g.38271430C>A	-
NM_023110.3(FGFR1):c.2292+3A>G	2260	FGFR1	Conflicting interpretations of pathogenicity	747737281	RCV000644519\|RCV001548029;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:C3661900	8	38271433	38271433	8:g.38271433T>C	ClinGen:CA4718129	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)	2260	FGFR1	Conflicting interpretations of pathogenicity	201490643	RCV000726653\|RCV001078934\|RCV001164854\|RCV001164855\|RCV001164856\|RCV001164857;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440, Orphanet:3366\|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orpha	8	38271450	38271450	8:g.38271450A>G	ClinGen:CA4718131	CN169374 not specified;
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)	2260	FGFR1	Likely benign	369782405	RCV002494368\|RCV002109919;	N	7 conditions\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271457	38271457	38271457	-
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)	2260	FGFR1	Uncertain significance	374473310	RCV001935567\|RCV002491888;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271461	38271461	38271461	-
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)	2260	FGFR1	Uncertain significance	-1	RCV002982931;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271462	38271462	NC_000008.10:g.38271462G>A	-
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)	2260	FGFR1	Uncertain significance	2150520798	RCV002046772\|RCV002482425;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271477	38271477	38271477	-
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)	2260	FGFR1	Likely benign	774683007	RCV002064572\|RCV002495278;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38271490	38271490	8:g.38271490G>A	-
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)	2260	FGFR1	Uncertain significance	1329256283	RCV001871469\|RCV002482669;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271528	38271528	38271528	-
NM_023110.3(FGFR1):c.2187-5C>T	2260	FGFR1	Likely benign	770230705	RCV002081446;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271546	38271546	38271546	-
NM_023110.3(FGFR1):c.2187-13A>G	2260	FGFR1	Uncertain significance	-1	RCV003016972;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271554	38271554	NC_000008.10:g.38271554T>C	-
NM_023110.3(FGFR1):c.2187-18C>G	2260	FGFR1	Likely benign	2150525040	RCV002159529;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271559	38271559	38271559	-
NM_023110.3(FGFR1):c.2187-19C>T	2260	FGFR1	Likely benign	376583717	RCV002110400\|RCV002500160;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38271560	38271560	38271560	-
NM_023110.3(FGFR1):c.2187-19C>A	2260	FGFR1	Likely benign	376583717	RCV002215125;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271560	38271560	38271560	-
NM_023110.3(FGFR1):c.2186+20G>A	2260	FGFR1	Likely benign	-1	RCV002620567;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271650	38271650	NC_000008.10:g.38271650C>T	-
NM_023110.3(FGFR1):c.2186+19C>T	2260	FGFR1	Likely benign	776791517	RCV002087442\|RCV002494007;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271651	38271651	38271651	-
NM_023110.3(FGFR1):c.2186+18T>G	2260	FGFR1	Likely benign	764343061	RCV002153083;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271652	38271652	38271652	-
NM_023110.3(FGFR1):c.2186+12_2186+14del	2260	FGFR1	Likely benign	1218085532	RCV002195383;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271656	38271658	38271655	-
NM_023110.3(FGFR1):c.2186+11G>A	2260	FGFR1	Likely benign	-1	RCV002898697;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271659	38271659	NC_000008.10:g.38271659C>T	-
NM_023110.3(FGFR1):c.2186+9G>A	2260	FGFR1	Likely benign	-1	RCV003086086;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271661	38271661	NC_000008.10:g.38271661C>T	-
NM_023110.3(FGFR1):c.2186+8C>T	2260	FGFR1	Likely benign	372639138	RCV000644525;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271662	38271662	8:g.38271662G>A	ClinGen:CA4718163	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=)	2260	FGFR1	Likely benign	767613285	RCV001439412;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271675	38271675	38271675	-
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys)	2260	FGFR1	Conflicting interpretations of pathogenicity	267606806	RCV001857786\|RCV003234553;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271684	38271684	8:g.38271684G>C	ClinVar:16292,UniProtKB:P11362#VAR_031007,OMIM:136350.0014	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)	2260	FGFR1	Uncertain significance	-1	RCV003056598;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271688	38271688	NC_000008.10:g.38271688C>T	-
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)	2260	FGFR1	Conflicting interpretations of pathogenicity	-1	RCV002834533\|RCV003234594;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271749	38271749	NC_000008.10:g.38271749C>T	-
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)	2260	FGFR1	Likely benign	777061347	RCV001311329\|RCV000644521\|RCV002493024;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38271750	38271750	8:g.38271750G>A	ClinGen:CA4718177	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=)	2260	FGFR1	Likely benign	773144331	RCV002218908;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271765	38271765	38271765	-
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)	2260	FGFR1	Likely benign	-1	RCV003043676;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271795	38271795		-
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)	2260	FGFR1	Likely benign	1193961883	RCV002084361\|RCV002508063;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271798	38271798	38271798	-
NM_023110.3(FGFR1):c.2049-12G>A	2260	FGFR1	Conflicting interpretations of pathogenicity	563601371	RCV001590812\|RCV002592504;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38271819	38271819	38271819	-
NM_023110.3(FGFR1):c.2049-13C>T	2260	FGFR1	Likely benign	756845879	RCV001562102\|RCV001859397\|RCV002506665;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38271820	38271820	38271820	-
NM_023110.3(FGFR1):c.2048+18A>G	2260	FGFR1	Likely benign	1340003441	RCV002127102;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272059	38272059	38272059	-
NM_023110.3(FGFR1):c.2048+13T>C	2260	FGFR1	Likely benign	-1	RCV002913341;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272064	38272064	NC_000008.10:g.38272064A>G	-
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe)	2260	FGFR1	Uncertain significance	2150549553	RCV001980200;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272099	38272099	38272099	-
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)	2260	FGFR1	Uncertain significance	-1	RCV002691071;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272101	38272101	NC_000008.10:g.38272101C>T	-
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=)	2260	FGFR1	Conflicting interpretations of pathogenicity	760681522	RCV000594996\|RCV002531092;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272118	38272118	8:g.38272118G>A	ClinGen:CA4718203	CN169374 not specified;
NM_023110.3(FGFR1):c.1978-8del	2260	FGFR1	Conflicting interpretations of pathogenicity	112311314	RCV000333764\|RCV002519115;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272155	38272155	8:g.38272155_38272155del	ClinGen:CA4718207	CN169374 not specified;
NM_023110.3(FGFR1):c.1978-13G>A	2260	FGFR1	Likely benign	761708658	RCV001577983\|RCV002501933\|RCV002072272;	N	MedGen:C3661900\|7 conditions\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38272160	38272160	38272160	-
NM_023110.3(FGFR1):c.1978-15C>T	2260	FGFR1	Likely benign	-1	RCV003073954;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272162	38272162	NC_000008.10:g.38272162G>A	-
NM_023110.3(FGFR1):c.1978-16C>T	2260	FGFR1	Likely benign	764971696	RCV002219578\|RCV002227292\|RCV002498260;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C3661900\|7 conditions	8	38272163	38272163	38272163	-
NM_023110.3(FGFR1):c.1977+20C>T	2260	FGFR1	Likely benign	-1	RCV002671934;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272277	38272277	NC_000008.10:g.38272277G>A	-
NM_023110.3(FGFR1):c.1977+18C>T	2260	FGFR1	Likely benign	201805975	RCV002105540;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272279	38272279	38272279	-
NM_023110.3(FGFR1):c.1977+15G>A	2260	FGFR1	Likely benign	-1	RCV002972392;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272282	38272282	NC_000008.10:g.38272282C>T	-
NM_023110.3(FGFR1):c.1977+10G>A	2260	FGFR1	Likely benign	770318743	RCV001419705;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272287	38272287	38272287	-
NM_023110.3(FGFR1):c.1977+9C>T	2260	FGFR1	Likely benign	372632166	RCV002145282;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272288	38272288	38272288	-
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=)	2260	FGFR1	Likely benign	376421301	RCV001425545;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38272321	38272321	38272321	-
NM_023110.3(FGFR1):c.1932C>T (p.Leu644=)	2260	FGFR1	Likely benign	-1	RCV002717141;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272342	38272342		-
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)	2260	FGFR1	Conflicting interpretations of pathogenicity	-1	RCV002294741\|RCV003101705;	N	MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465, Orphanet:2117\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38272352	38272352	38272352	-
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val)	2260	FGFR1	Conflicting interpretations of pathogenicity	1815800575	RCV001269555\|RCV001880193;	N	MedGen:CN517202\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38272355	38272355	8:g.38272355G>A	-
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)	2260	FGFR1	Benign/Likely benign	746123129	RCV000756157\|RCV001081619\|RCV002506352;	N	MedGen:CN517202\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38272386	38272386	8:g.38272386G>A	ClinGen:CA4718239	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.1855-8T>C	2260	FGFR1	Likely benign	-1	RCV002914092;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38272427	38272427	NC_000008.10:g.38272427A>G	-
NM_023110.3(FGFR1):c.1855-16C>T	2260	FGFR1	Benign/Likely benign	371160786	RCV000614048\|RCV002064377;	N	MedGen:CN169374\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38272435	38272435	8:g.38272435G>A	ClinGen:CA4718245	CN169374 not specified;
NM_023110.3(FGFR1):c.1854+15_1854+31del	2260	FGFR1	Uncertain significance	-1	RCV002636101;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38273357	38273373	NC_000008.10:g.38273357_38273373del	-
NM_023110.3(FGFR1):c.1854+19C>T	2260	FGFR1	Conflicting interpretations of pathogenicity	199830036	RCV000592281\|RCV002062015;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273369	38273369	8:g.38273369G>A	ClinGen:CA4718269	CN169374 not specified;
NM_023110.3(FGFR1):c.1854+17C>G	2260	FGFR1	Uncertain significance	-1	RCV003053190;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273371	38273371	NC_000008.10:g.38273371G>C	-
NM_023110.3(FGFR1):c.1854+14A>C	2260	FGFR1	Likely benign	-1	RCV002636102;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38273374	38273374	NC_000008.10:g.38273374T>G	-
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)	2260	FGFR1	Uncertain significance	-1	RCV003031315;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273417	38273417	NC_000008.10:g.38273417G>C	-
NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=)	2260	FGFR1	Likely benign	374740971	RCV002131091;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273427	38273427	38273427	-
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)	2260	FGFR1	Uncertain significance	-1	RCV003038305;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273447	38273447	NC_000008.10:g.38273447C>T	-
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys)	2260	FGFR1	Uncertain significance	755002934	RCV001875393\|RCV003452061;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273468	38273468	38273468	-
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr)	2260	FGFR1	Uncertain significance	2150585866	RCV001905881;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273471	38273471	38273471	-
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=)	2260	FGFR1	Likely benign	2150585961	RCV002215531;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273472	38273472	38273472	-
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg)	2260	FGFR1	Uncertain significance	903239767	RCV001948853;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38273521	38273521	38273521	-
NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=)	2260	FGFR1	Likely benign	-1	RCV003053930;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273526	38273526		-
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)	2260	FGFR1	Uncertain significance	771720144	RCV001849830\|RCV002543437\|RCV002506866;	N	MONDO:MONDO:0016692,MedGen:C1519086, Orphanet:251615\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38273531	38273531	38273531	-
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)	2260	FGFR1	Uncertain significance	-1	RCV003046104;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273539	38273539	NC_000008.10:g.38273539T>C	-
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg)	2260	FGFR1	Uncertain significance	531903077	RCV001895537;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273545	38273545	38273545	-
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)	2260	FGFR1	Uncertain significance	768223019	RCV001002536\|RCV001332494\|RCV001860516;	N	MedGen:CN169374\|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001, Orphanet:2396\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273548	38273548	8:g.38273548G>A	-
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=)	2260	FGFR1	Likely benign	2150591250	RCV001429037;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38273553	38273553	38273553	-
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)	2260	FGFR1	Likely benign	-1	RCV002972373;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273556	38273556		-
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=)	2260	FGFR1	Likely benign	1019589019	RCV002142402;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273562	38273562	38273562	-
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val)	2260	FGFR1	Uncertain significance	2150591908	RCV001897021;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273564	38273564	38273564	-
NM_023110.3(FGFR1):c.1664-18C>T	2260	FGFR1	Likely benign	-1	RCV002615568;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38273596	38273596	NC_000008.10:g.38273596G>A	-
NM_023110.3(FGFR1):c.1663+20G>A	2260	FGFR1	Likely benign	-1	RCV002943960;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38274804	38274804	NC_000008.10:g.38274804C>T	-
NM_023110.3(FGFR1):c.1663+10G>A	2260	FGFR1	Likely benign	901498652	RCV002487920\|RCV002539179;	N	7 conditions\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274814	38274814	8:g.38274814C>T	-
NM_023110.3(FGFR1):c.1663+9C>T	2260	FGFR1	Conflicting interpretations of pathogenicity	557754125	RCV000174406\|RCV001429514;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274815	38274815	8:g.38274815G>A	ClinGen:CA239943	CN169374 not specified;
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)	2260	FGFR1	Uncertain significance	760702592	RCV001055318;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274832	38274832	8:g.38274832G>C	-
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)	2260	FGFR1	Uncertain significance	-1	RCV002907689;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274887	38274887	NC_000008.10:g.38274887T>C	-
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr)	2260	FGFR1	Conflicting interpretations of pathogenicity	777345476	RCV000481922\|RCV002526617;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274892	38274892	8:g.38274892A>G	ClinGen:CA4718332	CN517202 not provided;
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)	2260	FGFR1	Uncertain significance	-1	RCV002829722;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274893	38274895	NC_000008.10:g.38274893_38274895del	-
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)	2260	FGFR1	Uncertain significance	199499923	RCV001348533;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38274933	38274933	38274933	-
NM_023110.3(FGFR1):c.1552+12T>C	2260	FGFR1	Likely benign	777138222	RCV002206573;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275376	38275376	38275376	-
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)	2260	FGFR1	Uncertain significance	-1	RCV002717106\|RCV003324047;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:CN169374	8	38275388	38275388	NC_000008.10:g.38275388A>C	-
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln)	2260	FGFR1	Uncertain significance	199573818	RCV000689540;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275400	38275400	NC_000008.10:g.38275400T>G	-	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)	2260	FGFR1	Uncertain significance	369356672	RCV000498726\|RCV001253587\|RCV001857029\|RCV002481592;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38275420	38275420	8:g.38275420C>T	ClinGen:CA4718357	CN169374 not specified;
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)	2260	FGFR1	Uncertain significance	-1	RCV003114795;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275420	38275420	NC_000008.10:g.38275420C>A	-
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)	2260	FGFR1	Uncertain significance	-1	RCV002785248;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275421	38275421	NC_000008.10:g.38275421G>A	-
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)	2260	FGFR1	Likely benign	-1	RCV002604024;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275446	38275446		-
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val)	2260	FGFR1	Uncertain significance	767419329	RCV001910402;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275448	38275448	38275448	-
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)	2260	FGFR1	Conflicting interpretations of pathogenicity	752601407	RCV001376140\|RCV001871980;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275463	38275463	38275463	-
NM_023110.3(FGFR1):c.1476G>A (p.Val492=)	2260	FGFR1	Likely benign	1817294749	RCV001417888;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275464	38275464	8:g.38275464C>T	-
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)	2260	FGFR1	Likely benign	-1	RCV002581071;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275467	38275467		-
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=)	2260	FGFR1	Likely benign	755702592	RCV002109083;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275491	38275491	38275491	-
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)	2260	FGFR1	Uncertain significance	397515444	RCV001546914\|RCV001882620\|RCV002495872;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38275493	38275493	38275493	-
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=)	2260	FGFR1	Likely benign	2150658041	RCV001433361;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275497	38275497	38275497	-
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)	2260	FGFR1	Likely benign	-1	RCV003027306;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275497	38275497		-
NM_023110.3(FGFR1):c.1431-6C>T	2260	FGFR1	Likely benign	375706016	RCV001430425;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275515	38275515	8:g.38275515G>A	-
NM_023110.3(FGFR1):c.1431-7C>T	2260	FGFR1	Likely benign	-1	RCV003106928;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275516	38275516	NC_000008.10:g.38275516G>A	-
NM_023110.3(FGFR1):c.1431-10C>T	2260	FGFR1	Likely benign	-1	RCV002716237;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275519	38275519	NC_000008.10:g.38275519G>A	-
NM_023110.3(FGFR1):c.1431-20CT[2]	2260	FGFR1	Likely benign	774739614	RCV002091639;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275524	38275525	38275523	-
NM_023110.3(FGFR1):c.1430+7_1430+9del	2260	FGFR1	Benign	772340109	RCV002215436;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275737	38275739	38275736	-
NM_023110.3(FGFR1):c.1430+9A>G	2260	FGFR1	Likely benign	371390925	RCV002147433;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275737	38275737	38275737	-
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu)	2260	FGFR1	Conflicting interpretations of pathogenicity	121909637	RCV000030932\|RCV001851897;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275767	38275767	8:g.38275767C>A	ClinGen:CA260621,UniProtKB:P11362#VAR_069292,OMIM:136350.0016	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)	2260	FGFR1	Uncertain significance	121909637	RCV001958351\|RCV003234586;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275767	38275767	38275767	-
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)	2260	FGFR1	Uncertain significance	781310679	RCV001551032\|RCV002501889\|RCV002568326\|RCV003234576;	N	MedGen:C3661900\|7 conditions\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275768	38275768	38275768	-
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)	2260	FGFR1	Benign/Likely benign	150652786	RCV001518855\|RCV002501811;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38275778	38275778	38275778	-
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)	2260	FGFR1	Uncertain significance	-1	RCV002583984;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275824	38275824	NC_000008.10:g.38275824G>C	-
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)	2260	FGFR1	Uncertain significance	758138124	RCV000540340\|RCV000757294\|RCV002528411;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	8	38275833	38275833	8:g.38275833C>T	ClinGen:CA4718406	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu)	2260	FGFR1	Uncertain significance	758138124	RCV001346534;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275833	38275833	38275833	-
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)	2260	FGFR1	Likely benign	-1	RCV002574409;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275847	38275847		-
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)	2260	FGFR1	Uncertain significance	-1	RCV002800109\|RCV003155491;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN169374	8	38275848	38275848	NC_000008.10:g.38275848A>G	-
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu)	2260	FGFR1	Uncertain significance	372654433	RCV001228910;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275857	38275857	8:g.38275857C>T	-
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)	2260	FGFR1	Benign/Likely benign	546318124	RCV002088154\|RCV002494160;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38275868	38275868	38275868	-
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=)	2260	FGFR1	Likely benign	1377886104	RCV002184475;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275880	38275880	38275880	-
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)	2260	FGFR1	Uncertain significance	-1	RCV003056151;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38275887	38275887	NC_000008.10:g.38275887G>A	-
NM_023110.3(FGFR1):c.1285-8C>A	2260	FGFR1	Likely benign	1235765985	RCV000644524;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38275899	38275899	8:g.38275899G>T	ClinGen:CA658797084	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.1285-15C>T	2260	FGFR1	Benign/Likely benign	760069564	RCV002151165\|RCV002500310;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38275906	38275906	38275906	-
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)	2260	FGFR1	Uncertain significance	-1	RCV002994955\|RCV003234595;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38277065	38277065	NC_000008.10:g.38277065G>A	-
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)	2260	FGFR1	Conflicting interpretations of pathogenicity	144131616	RCV000861800\|RCV001532614;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C3661900	8	38277066	38277066	8:g.38277066C>T	-
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg)	2260	FGFR1	Uncertain significance	1232639613	RCV001902586;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277079	38277079	38277079	-
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)	2260	FGFR1	Uncertain significance	-1	RCV003063136;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277082	38277082	NC_000008.10:g.38277082G>A	-
NM_023110.3(FGFR1):c.1245C>T (p.His415=)	2260	FGFR1	Likely benign	-1	RCV002642885;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38277090	38277090		-
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg)	2260	FGFR1	Uncertain significance	2150706408	RCV001899545;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277091	38277091	38277091	-
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)	2260	FGFR1	Uncertain significance	1817962450	RCV001321531;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277104	38277104	38277104	-
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)	2260	FGFR1	Uncertain significance	-1	RCV002966090;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38277106	38277106	NC_000008.10:g.38277106C>T	-
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)	2260	FGFR1	Likely benign	-1	RCV002636956;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38277141	38277141		-
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)	2260	FGFR1	Conflicting interpretations of pathogenicity	752627281	RCV002040746\|RCV002492357;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38277149	38277149	38277149	-
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)	2260	FGFR1	Likely benign	756104594	RCV001463889\|RCV002478972;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38277150	38277150	8:g.38277150G>A	-
NM_023110.3(FGFR1):c.1179G>T (p.Ser393=)	2260	FGFR1	Likely benign	374674165	RCV001953771;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38277156	38277156	38277156	-
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=)	2260	FGFR1	Likely benign	374674165	RCV001948575;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277156	38277156	38277156	-
NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu)	2260	FGFR1	Likely benign	369059499	RCV001552947\|RCV001882632;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277157	38277157	38277157	-
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val)	2260	FGFR1	Uncertain significance	376921992	RCV002042145\|RCV003401772\|RCV003120726;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|\|MedGen:C3661900	8	38277167	38277167	38277167	-
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=)	2260	FGFR1	Uncertain significance	1338926241	RCV002042370;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277168	38277168	38277168	-
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)	2260	FGFR1	Uncertain significance	377648976	RCV001924391\|RCV002479455;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38277221	38277221	38277221	-
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val)	2260	FGFR1	Uncertain significance	1324436328	RCV002020395;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277235	38277235	38277235	-
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)	2260	FGFR1	Conflicting interpretations of pathogenicity	56174879	RCV000592343\|RCV002062027;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38277237	38277237	8:g.38277237C>T	ClinGen:CA4718477	CN169374 not specified;
NM_023110.3(FGFR1):c.1082-12G>A	2260	FGFR1	Likely benign	-1	RCV003079220;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38277265	38277265	NC_000008.10:g.38277265C>T	-
NM_023110.3(FGFR1):c.1081+20C>T	2260	FGFR1	Benign	17175982	RCV001523257\|RCV001813140;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C3661900	8	38279295	38279295	38279295	-
NM_023110.3(FGFR1):c.1081+16T>C	2260	FGFR1	Likely benign	1414301323	RCV002096218;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279299	38279299	38279299	-
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys)	2260	FGFR1	Uncertain significance	982371464	RCV000484860\|RCV002525951;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279318	38279318	8:g.38279318C>T	ClinGen:CA16618629	CN169374 not specified;
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)	2260	FGFR1	Uncertain significance	774768179	RCV001345874\|RCV002486407;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38279324	38279324	38279324	-
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser)	2260	FGFR1	Uncertain significance	1563474845	RCV000702519;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38279332	38279332	NC_000008.10:g.38279332C>G	-	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)	2260	FGFR1	Likely benign	-1	RCV002908497;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279376	38279376		-
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)	2260	FGFR1	Likely benign	-1	RCV002756795;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279385	38279385		-
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=)	2260	FGFR1	Likely benign	1331582263	RCV002100255;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279391	38279391	38279391	-
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)	2260	FGFR1	Uncertain significance	-1	RCV002797331;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279405	38279405	NC_000008.10:g.38279405C>A	-
NM_023110.3(FGFR1):c.957C>T (p.Thr319=)	2260	FGFR1	Likely benign	-1	RCV002814299;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38279439	38279439		-
NM_023110.3(FGFR1):c.937-4C>T	2260	FGFR1	Likely benign	777156333	RCV002125610;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279463	38279463	38279463	-
NM_023110.3(FGFR1):c.937-6T>G	2260	FGFR1	Conflicting interpretations of pathogenicity	374904700	RCV000981734\|RCV001504884\|RCV002549574;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MeSH:D030342,MedGen:C0950123	8	38279465	38279465	8:g.38279465A>C	-
NM_023110.3(FGFR1):c.937-10T>C	2260	FGFR1	Likely benign	757823303	RCV002179087;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38279469	38279469	38279469	-
NM_023110.3(FGFR1):c.937-15C>T	2260	FGFR1	Likely benign	966338298	RCV002104567;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38279474	38279474	38279474	-
NM_023110.3(FGFR1):c.936+13C>T	2260	FGFR1	Likely benign	-1	RCV002947132;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38282014	38282014	NC_000008.10:g.38282014G>A	-
NM_023110.3(FGFR1):c.936+7A>G	2260	FGFR1	Likely benign	-1	RCV003041901;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282020	38282020	NC_000008.10:g.38282020T>C	-
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)	2260	FGFR1	Likely benign	377010221	RCV001412074\|RCV002493970;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38282042	38282042	38282042	-
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)	2260	FGFR1	Conflicting interpretations of pathogenicity	121909633	RCV000017681\|RCV000502492\|RCV000514891\|RCV000766015\|RCV001407682;	N	MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440, Orphanet:3366\|MedGen:CN169374\|MedGen:C3661900\|7 conditions\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38282064	38282064	8:g.38282064A>G	OMIM:136350.0011,ClinGen:CA126355,UniProtKB:P11362#VAR_030986	CN517202 not provided;
NM_023110.3(FGFR1):c.891G>A (p.Gly297=)	2260	FGFR1	Likely benign	774652525	RCV002212312;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282072	38282072	38282072	-
NM_023110.3(FGFR1):c.870A>G (p.Leu290=)	2260	FGFR1	Likely benign	751538019	RCV002090364;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282093	38282093	38282093	-
NM_023110.3(FGFR1):c.849G>A (p.Pro283=)	2260	FGFR1	Likely benign	-1	RCV002620696;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38282114	38282114		-
NM_023110.3(FGFR1):c.819G>C (p.Val273=)	2260	FGFR1	Likely benign	779056585	RCV002204257;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282144	38282144	38282144	-
NM_023110.3(FGFR1):c.817G>A (p.Val273Met)	2260	FGFR1	Conflicting interpretations of pathogenicity	1131691929	RCV000492969\|RCV001851361\|RCV003234560;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38282146	38282146	8:g.38282146C>T	ClinGen:CA370735039	CN517202 not provided;
NM_023110.3(FGFR1):c.789C>T (p.Ala263=)	2260	FGFR1	Likely benign	780944776	RCV001499467;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38282174	38282174	38282174	-
NM_023110.3(FGFR1):c.786C>T (p.Pro262=)	2260	FGFR1	Likely benign	769599671	RCV001486645;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282177	38282177	38282177	-
NM_023110.3(FGFR1):c.746-5C>G	2260	FGFR1	Uncertain significance	1820095016	RCV001349647;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282222	38282222	38282222	-
NM_023110.3(FGFR1):c.746-14C>G	2260	FGFR1	Likely benign	1171714073	RCV002186010;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38282231	38282231	38282231	-
NM_023110.3(FGFR1):c.745+7G>A	2260	FGFR1	Likely benign	202096944	RCV000870569\|RCV003222159;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C3661900	8	38283633	38283633	8:g.38283633C>T	-
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)	2260	FGFR1	Uncertain significance	-1	RCV002611996;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38283666	38283666	NC_000008.10:g.38283666T>C	-
NM_023110.3(FGFR1):c.714C>T (p.Ser238=)	2260	FGFR1	Likely benign	1586315279	RCV001432436;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38283671	38283671	38283671	-
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=)	2260	FGFR1	Likely benign	373644620	RCV000865763\|RCV001475418;	N	MedGen:CN517202\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38283677	38283677	8:g.38283677G>A	-
NM_023110.3(FGFR1):c.648A>C (p.Ile216=)	2260	FGFR1	Likely benign	756132460	RCV002088711;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38283737	38283737	38283737	-
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val)	2260	FGFR1	Uncertain significance	763771933	RCV001205279\|RCV001760168;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN517202	8	38283739	38283739	8:g.38283739T>C	-
NM_023110.3(FGFR1):c.621+19G>A	2260	FGFR1	Likely benign	945311072	RCV002106134\|RCV002494362;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38285420	38285420	38285420	-
NM_023110.3(FGFR1):c.621+7G>T	2260	FGFR1	Likely benign	377200873	RCV001489560\|RCV002501239;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38285432	38285432	8:g.38285432C>A	-
NM_023110.3(FGFR1):c.621+5G>A	2260	FGFR1	Uncertain significance	-1	RCV002575841;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285434	38285434	NC_000008.10:g.38285434C>T	-
NM_023110.3(FGFR1):c.621+4C>T	2260	FGFR1	Uncertain significance	750639887	RCV001940325;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285435	38285435	38285435	-
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)	2260	FGFR1	Uncertain significance	-1	RCV002988438;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285443	38285443	NC_000008.10:g.38285443T>C	-
NM_023110.3(FGFR1):c.615C>T (p.Gly205=)	2260	FGFR1	Conflicting interpretations of pathogenicity	781689191	RCV000373182\|RCV002059223;	N	MedGen:CN517202\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285445	38285445	8:g.38285445G>A	ClinGen:CA4718704	CN169374 not specified;
NM_023110.3(FGFR1):c.597T>C (p.Pro199=)	2260	FGFR1	Likely benign	-1	RCV003028809;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285463	38285463		-
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)	2260	FGFR1	Uncertain significance	770139002	RCV001349073\|RCV002504553;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38285476	38285476	38285476	-
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)	2260	FGFR1	Uncertain significance	778166317	RCV001933536\|RCV002484599;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38285494	38285494	38285494	-
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg)	2260	FGFR1	Uncertain significance	2150912609	RCV002043910\|RCV003234587;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285503	38285503	38285503	-
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg)	2260	FGFR1	Uncertain significance	2150914598	RCV001916796\|RCV003234585;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285528	38285528	38285528	-
NM_023110.3(FGFR1):c.507G>A (p.Pro169=)	2260	FGFR1	Likely benign	374145904	RCV001557258\|RCV002568368;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285553	38285553	38285553	-
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu)	2260	FGFR1	Uncertain significance	1413642890	RCV001756580\|RCV001882822\|RCV003234583;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285554	38285554	38285554	-
NM_023110.3(FGFR1):c.471C>G (p.Ser157=)	2260	FGFR1	Likely benign	376497452	RCV001504924;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285589	38285589	8:g.38285589G>C	ClinGen:CA460400475	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.456T>C (p.Ala152=)	2260	FGFR1	Likely benign	369175953	RCV001426427\|RCV002504703;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38285604	38285604	38285604	-
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro)	2260	FGFR1	Uncertain significance	1033377277	RCV001299412;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285606	38285606	38285606	-
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile)	2260	FGFR1	Uncertain significance	762665767	RCV001658989\|RCV002539626;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285609	38285609	38285609	-
NM_023110.3(FGFR1):c.450C>T (p.Pro150=)	2260	FGFR1	Likely benign	766091702	RCV002173607;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285610	38285610	38285610	-
NM_023110.3(FGFR1):c.449-6G>A	2260	FGFR1	Uncertain significance	-1	RCV002300857\|RCV003101708;	N	MedGen:CN517202\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285617	38285617	38285617	-
NM_023110.3(FGFR1):c.449-8C>A	2260	FGFR1	Benign	551551806	RCV001519132;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285619	38285619	38285619	-
NM_023110.3(FGFR1):c.448+20C>T	2260	FGFR1	Benign	767029419	RCV002108533;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285844	38285844	38285844	-
NM_023110.3(FGFR1):c.448+1G>C	2260	FGFR1	Conflicting interpretations of pathogenicity	376416531	RCV001561278\|RCV001882653\|RCV002476862;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38285863	38285863	38285863	-
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser)	2260	FGFR1	Uncertain significance	746094709	RCV001752550\|RCV001868518;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285864	38285864	38285864	-
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)	2260	FGFR1	Uncertain significance	-1	RCV002295628;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285887	38285887	38285887	-
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)	2260	FGFR1	Uncertain significance	200482627	RCV001324327\|RCV002476525\|RCV003234575;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285890	38285890	38285890	-
NM_023110.3(FGFR1):c.411G>A (p.Glu137=)	2260	FGFR1	Likely benign	1010621186	RCV002182217;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285901	38285901	38285901	-
NM_023110.3(FGFR1):c.405T>C (p.Ser135=)	2260	FGFR1	Likely benign	374139613	RCV001436218;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285907	38285907	38285907	-
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)	2260	FGFR1	Uncertain significance	-1	RCV003081931\|RCV003443119;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:C3661900	8	38285912	38285913	NC_000008.10:g.38285913_38285915dup	-
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)	2260	FGFR1	Conflicting interpretations of pathogenicity	138489552	RCV000512821\|RCV001343353\|RCV003314603;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:C5680616, Orphanet:139039	8	38285913	38285914	8:g.38285913_38285914insTCA	ClinGen:CA4718759	CN517202 not provided;
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)	2260	FGFR1	Likely benign	138489552	RCV000869877\|RCV002507508;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38285914	38285916	8:g.38285914_38285916del	-
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn)	2260	FGFR1	Likely benign	562958780	RCV001551726\|RCV002032587\|RCV002568333;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MeSH:D030342,MedGen:C0950123	8	38285918	38285918	38285918	-
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val)	2260	FGFR1	Uncertain significance	1161536828	RCV001351471;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285923	38285923	38285923	-
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)	2260	FGFR1	Conflicting interpretations of pathogenicity	765615419	RCV000521203\|RCV002060267\|RCV003409745;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|	8	38285926	38285926	8:g.38285926T>G	ClinGen:CA4718764	CN169374 not specified;
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)	2260	FGFR1	Uncertain significance	750795714	RCV001967365\|RCV002491970;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38285931	38285931	38285931	-
NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del)	2260	FGFR1	Uncertain significance	1328266877	RCV003238590\|RCV003388042;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38285938	38285940	38285937	-
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)	2260	FGFR1	Uncertain significance	-1	RCV003043970\|RCV003410043;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|	8	38285950	38285950	NC_000008.10:g.38285950G>A	-
NM_023110.3(FGFR1):c.359-7C>T	2260	FGFR1	Benign	749216266	RCV002538905;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285960	38285960	8:g.38285960G>A	-
NM_023110.3(FGFR1):c.359-15TTC[2]	2260	FGFR1	Likely benign	768778460	RCV001429117\|RCV001553051;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:C3661900	8	38285960	38285962	38285959	-
NM_023110.3(FGFR1):c.359-9T>C	2260	FGFR1	Likely benign	770811938	RCV001479085;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285962	38285962	38285962	-
NM_023110.3(FGFR1):c.359-18C>T	2260	FGFR1	Likely benign	1177584027	RCV002075567;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38285971	38285971	38285971	-
NM_023110.3(FGFR1):c.358+19C>A	2260	FGFR1	Likely benign	-1	RCV003072216;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287181	38287181	NC_000008.10:g.38287181G>T	-
NM_023110.3(FGFR1):c.358+18G>A	2260	FGFR1	Likely benign	375458309	RCV001435361;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287182	38287182	38287182	-
NM_023110.3(FGFR1):c.358+18G>T	2260	FGFR1	Likely benign	375458309	RCV001968270;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287182	38287182	38287182	-
NM_023110.3(FGFR1):c.358+11A>G	2260	FGFR1	Likely benign	-1	RCV002580149;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287189	38287189	NC_000008.10:g.38287189T>C	-
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser)	2260	FGFR1	Likely benign	780765366	RCV000824229\|RCV001557461\|RCV003234566;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287208	38287208	8:g.38287208T>C	-
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)	2260	FGFR1	Uncertain significance	747842199	RCV001991741\|RCV002486599\|RCV003438911;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions\|MedGen:C3661900	8	38287212	38287212	38287212	-
NM_023110.3(FGFR1):c.342C>T (p.Phe114=)	2260	FGFR1	Likely benign	-1	RCV003110504;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287216	38287216		-
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser)	2260	FGFR1	Uncertain significance	2150955298	RCV001892068;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287217	38287217	38287217	-
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	2260	FGFR1	Benign/Likely benign	148480919	RCV000177332\|RCV000756158\|RCV001080712\|RCV002503683;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38287222	38287222	8:g.38287222G>A	ClinGen:CA202419	CN169374 not specified;
NM_023110.3(FGFR1):c.333C>T (p.Thr111=)	2260	FGFR1	Likely benign	771522317	RCV002178870;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287225	38287225	38287225	-
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)	2260	FGFR1	Uncertain significance	775020833	RCV001213861\|RCV002484165;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|7 conditions	8	38287226	38287226	8:g.38287226G>A	-
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser)	2260	FGFR1	Uncertain significance	1419947824	RCV001341267;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287236	38287236	38287236	-
NM_023110.3(FGFR1):c.321G>A (p.Ser107=)	2260	FGFR1	Likely benign	-1	RCV003072206;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287237	38287237		-
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)	2260	FGFR1	Uncertain significance	-1	RCV002967331;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287247	38287247	NC_000008.10:g.38287247C>T	-
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)	2260	FGFR1	Benign/Likely benign	55642501	RCV000625740\|RCV000644523\|RCV001163223\|RCV001163221\|RCV001163222\|RCV001163224\|RCV001572134;	N	MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465, Orphanet:2117\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440, Orphanet:3366\|MONDO:M	8	38287254	38287254	8:g.38287254C>T	ClinGen:CA4718822	C1845146 615465 Hartsfield syndrome;
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)	2260	FGFR1	Likely benign	-1	RCV002735123\|RCV003434504;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:C3661900	8	38287255	38287255		-
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=)	2260	FGFR1	Benign/Likely benign	552562422	RCV000432317\|RCV002522619;	N	MedGen:CN169374\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287261	38287261	8:g.38287261A>G	ClinGen:CA4718824	CN169374 not specified;
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His)	2260	FGFR1	Uncertain significance	1822219907	RCV001219412;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287263	38287263	8:g.38287263A>G	-
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)	2260	FGFR1	Uncertain significance	-1	RCV002927008;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287266	38287266	NC_000008.10:g.38287266G>A	-
NM_023110.3(FGFR1):c.288C>T (p.Ser96=)	2260	FGFR1	Likely benign	757362905	RCV002170006;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287270	38287270	38287270	-
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)	2260	FGFR1	Uncertain significance	-1	RCV002834443;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287277	38287277	NC_000008.10:g.38287277G>T	-
NM_023110.3(FGFR1):c.279C>G (p.Pro93=)	2260	FGFR1	Likely benign	781034707	RCV002142802;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287279	38287279	38287279	-
NM_023110.3(FGFR1):c.279C>T (p.Pro93=)	2260	FGFR1	Likely benign	781034707	RCV002080084;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287279	38287279	38287279	-
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)	2260	FGFR1	Uncertain significance	-1	RCV002928038;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287290	38287290	NC_000008.10:g.38287290C>A	-
NM_023110.3(FGFR1):c.256G>A (p.Val86Met)	2260	FGFR1	Uncertain significance	1404670039	RCV001983930;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287302	38287302	38287302	-
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)	2260	FGFR1	Uncertain significance	-1	RCV003007310;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287313	38287313	NC_000008.10:g.38287313G>A	-
NM_023110.3(FGFR1):c.243C>T (p.Ile81=)	2260	FGFR1	Conflicting interpretations of pathogenicity	764340351	RCV001769468\|RCV002540517;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287315	38287315	38287315	-
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val)	2260	FGFR1	Uncertain significance	201574031	RCV001906268\|RCV002267642\|RCV002509716;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN169374	8	38287317	38287317	38287317	-
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)	2260	FGFR1	Uncertain significance	-1	RCV002294837;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287320	38287320	38287320	-
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)	2260	FGFR1	Uncertain significance	-1	RCV003041743;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287322	38287322	NC_000008.10:g.38287322G>T	-
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)	2260	FGFR1	Conflicting interpretations of pathogenicity	1554570706	RCV000498444\|RCV000704507\|RCV001004067\|RCV003409687;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|	8	38287326	38287326	8:g.38287326G>A	ClinGen:CA370736382	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)	2260	FGFR1	Uncertain significance	767195580	RCV001237839\|RCV001547124\|RCV002491770\|RCV003234572;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:CN517202\|7 conditions\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287327	38287327	8:g.38287327G>C	-
NM_023110.3(FGFR1):c.228C>T (p.Ser76=)	2260	FGFR1	Likely benign	-1	RCV003080561;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287330	38287330		-
NM_023110.3(FGFR1):c.222G>C (p.Ala74=)	2260	FGFR1	Likely benign	748896706	RCV002071165;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287336	38287336	38287336	-
NM_023110.3(FGFR1):c.222G>A (p.Ala74=)	2260	FGFR1	Likely benign	-1	RCV002933133;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287336	38287336		-
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu)	2260	FGFR1	Conflicting interpretations of pathogenicity	561300213	RCV000323081\|RCV002521956;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287347	38287347	8:g.38287347C>A	ClinGen:CA4718852	CN169374 not specified;
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del)	2260	FGFR1	Uncertain significance	1387712427	RCV001962858;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287350	38287379	38287349	-
NM_023110.3(FGFR1):c.193A>C (p.Asn65His)	2260	FGFR1	Uncertain significance	768919123	RCV001326741\|RCV001760419;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN517202	8	38287365	38287365	38287365	-
NM_023110.3(FGFR1):c.181G>A (p.Val61Met)	2260	FGFR1	Uncertain significance	762089291	RCV001928973;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287377	38287377	38287377	-
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)	2260	FGFR1	Uncertain significance	-1	RCV002305308;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287379	38287379	38287379	-
NM_023110.3(FGFR1):c.177C>T (p.Asp59=)	2260	FGFR1	Likely benign	367880371	RCV000861754\|RCV001481214\|RCV003279126;	N	MedGen:CN517202\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MeSH:D030342,MedGen:C0950123	8	38287381	38287381	8:g.38287381G>A	-
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)	2260	FGFR1	Uncertain significance	200116660	RCV001935699\|RCV002507037;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38287385	38287385	38287385	-
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp)	2260	FGFR1	Uncertain significance	1162148796	RCV001758490\|RCV002540410;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287386	38287386	38287386	-
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met)	2260	FGFR1	Uncertain significance	1301127877	RCV002049384;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287389	38287389	38287389	-
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr)	2260	FGFR1	Uncertain significance	2150964150	RCV001931397;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287394	38287394	38287394	-
NM_023110.3(FGFR1):c.162C>G (p.Arg54=)	2260	FGFR1	Likely benign	-1	RCV002595576;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287396	38287396		-
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys)	2260	FGFR1	Uncertain significance	778531708	RCV000552834;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287398	38287398	8:g.38287398G>A	ClinGen:CA4718869	C1563720 147950 Kallmann syndrome 2;
NM_023110.3(FGFR1):c.141C>G (p.Pro47=)	2260	FGFR1	Likely benign	553706848	RCV002117427;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287417	38287417	38287417	-
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)	2260	FGFR1	Uncertain significance	1085307493	RCV000489554\|RCV001865508\|RCV002475960;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38287430	38287430	8:g.38287430A>C	ClinGen:CA370736589	CN169374 not specified;
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr)	2260	FGFR1	Uncertain significance	2150966948	RCV001974287;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287452	38287452	38287452	-
NM_023110.3(FGFR1):c.92-6C>G	2260	FGFR1	Conflicting interpretations of pathogenicity	-1	RCV002766800\|RCV002785502;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287472	38287472	NC_000008.10:g.38287472G>C	-
NM_023110.3(FGFR1):c.92-13G>A	2260	FGFR1	Likely benign	373032952	RCV002189541;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287479	38287479	38287479	-
NM_023110.3(FGFR1):c.92-13G>T	2260	FGFR1	Likely benign	-1	RCV002640255;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287479	38287479	NC_000008.10:g.38287479C>A	-
NM_023110.3(FGFR1):c.92-14C>T	2260	FGFR1	Benign/Likely benign	547772178	RCV002167534\|RCV002494046;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38287480	38287480	38287480	-
NM_023110.3(FGFR1):c.92-19G>A	2260	FGFR1	Uncertain significance	753723806	RCV000494040\|RCV002524045;	N	MedGen:CN517202\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38287485	38287485	8:g.38287485C>T	ClinGen:CA581431094	CN169374 not specified;
NM_023110.3(FGFR1):c.92-20C>T	2260	FGFR1	Likely benign	559825541	RCV002212924;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38287486	38287486	38287486	-
NM_023110.3(FGFR1):c.91+20C>T	2260	FGFR1	Likely benign	-1	RCV003073981;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38314854	38314854	NC_000008.10:g.38314854G>A	-
NM_023110.3(FGFR1):c.91+19G>T	2260	FGFR1	Likely benign	-1	RCV002760802;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38314855	38314855	NC_000008.10:g.38314855C>A	-
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)	2260	FGFR1	Uncertain significance	145434725	RCV000493590\|RCV001856982\|RCV002496901;	N	MedGen:CN517202\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38314882	38314882	8:g.38314882G>A	ClinGen:CA4718940	CN169374 not specified;
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe)	2260	FGFR1	Uncertain significance	1230569367	RCV001365478;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38314884	38314884	38314884	-
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn)	2260	FGFR1	Uncertain significance	1833133571	RCV002036465;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38314888	38314888	38314888	-
NM_023110.3(FGFR1):c.75G>C (p.Pro25=)	2260	FGFR1	Likely benign	17175757	RCV002175420;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38314890	38314890	38314890	-
NM_023110.3(FGFR1):c.69G>A (p.Pro23=)	2260	FGFR1	Likely benign	369704492	RCV001423732;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38314896	38314896	8:g.38314896C>T	-
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)	2260	FGFR1	Conflicting interpretations of pathogenicity	17175750	RCV001520874\|RCV001658222\|RCV001565165\|RCV001843591;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710; MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250, Orphanet:2645	8	38314899	38314899	38314899	-
NM_023110.3(FGFR1):c.39G>A (p.Leu13=)	2260	FGFR1	Uncertain significance	760206071	RCV001909355;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38314926	38314926	38314926	-
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro)	2260	FGFR1	Uncertain significance	764533580	RCV001955666;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38314927	38314927	38314927	-
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)	2260	FGFR1	Uncertain significance	532741632	RCV001903731\|RCV002478336;	N	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|7 conditions	8	38314945	38314945	38314945	-
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)	2260	FGFR1	Uncertain significance	751651299	RCV002245098\|RCV002488624\|RCV003101321;	N	MedGen:C3661900\|7 conditions\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	38314957	38314957	38314957	-
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)	2263	FGFR2	Pathogenic/Likely pathogenic	1057519047	RCV000415480\|RCV000731782;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C3661900	10	123247569	123247569	10:g.123247569T>C	ClinGen:CA16043905	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	2263	FGFR2	Pathogenic/Likely pathogenic	121918506	RCV000014219\|RCV000434384\|RCV001851848\|RCV003441716;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|Human Phenotype Ontology:HP:0001363,Human Phenotype Ontology:HP:0001365,Human Phenotype Ontology:HP:0004494,Human Phenotype Ontology:HP:0005448,Human Phenotype Ontology:HP:0005457,Human Phenot	10	123256215	123256215	10:g.123256215T>G	ClinGen:CA280192,OMIM:176943.0033	C0010278 Craniosynostosis syndrome;
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	2263	FGFR2	Pathogenic/Likely pathogenic	121918506	RCV000415495\|RCV000438913\|RCV001549391\|RCV001865307\|RCV002488862;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:C0279763\|MedGen:C3661900\|MedGen:CN231480\|11 conditions	10	123256215	123256215	10:g.123256215T>C	ClinGen:CA16043906	C0279763 Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation;
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	2263	FGFR2	Pathogenic/Likely pathogenic	121918494	RCV000014190\|RCV000626619\|RCV000655421\|RCV000726654\|RCV001823713;	N	Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|22 conditions\|MedGen:CN231480\|MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	10	123276877	123276877	10:g.123276877G>C	ClinGen:CA280173,UniProtKB:P21802#VAR_004142,OMIM:176943.0009	C0431483 Abnormality of the pinna;
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	2263	FGFR2	Pathogenic/Likely pathogenic	121918487	RCV000014173\|RCV000014174\|RCV000547490\|RCV000762801\|RCV001090933\|RCV001196204\|RCV001730471;	N	Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480\|11 conditions\|MedGen:C3661900\|MONDO:MONDO:0020667,MedGen:C2936791,	10	123276892	123276892	10:g.123276892C>T	ClinGen:CA280168,UniProtKB:P21802#VAR_004139,OMIM:176943.0001	C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1084+3A>G	2263	FGFR2	Pathogenic	879253721	RCV000014225\|RCV000014226\|RCV001254178\|RCV001382547\|RCV002273930;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C00102	10	123276830	123276830	NC_000010.10:g.123276830T>C	ClinGen:CA10575520,OMIM:176943.0038	C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	2263	FGFR2	Pathogenic	121918502	RCV000014208\|RCV000014209\|RCV000256107\|RCV000415503\|RCV000528973\|RCV003313920;	N	MONDO:MONDO:0019661,MedGen:C5438850, Orphanet:93260\|MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410, Orphanet:596008, Orphanet:83\|MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480\|Human Phenotype Ontology:HP:00044	10	123276865	123276865	10:g.123276865G>C	ClinGen:CA122991,UniProtKB:P21802#VAR_004143,OMIM:176943.0024	C2936791 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)	2263	FGFR2	Pathogenic	121918492	RCV000014187\|RCV000014188\|RCV001851846\|RCV003313919;	N	MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540\|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|MedGen:CN231480\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	10	123276886	123276886	10:g.123276886G>C	ClinGen:CA280171,UniProtKB:P21802#VAR_004140,OMIM:176943.0007	C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)	2263	FGFR2	Pathogenic	121918487	RCV000415499\|RCV000560038\|RCV000856727\|RCV001729573\|RCV003155177;	N	MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540\|MedGen:CN231480\|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,O	10	123276892	123276892	10:g.123276892C>G	ClinGen:CA10575447	CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)	2263	FGFR2	Pathogenic	121918488	RCV000014178\|RCV000014180\|RCV000014177\|RCV000014179\|RCV000534888\|RCV001723565;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0020667,MedGen:C2936791,OMIM:207410, Orphanet:596008, Orphanet:83\|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|MONDO:	10	123276893	123276893	10:g.123276893A>G	ClinGen:CA256745,UniProtKB:P21802#VAR_004137,OMIM:176943.0002	C2936791 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)	2263	FGFR2	Pathogenic	121918488	RCV000415501\|RCV001270790\|RCV001591054\|RCV001861462;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|\|MedGen:CN517202\|MedGen:CN231480	10	123276893	123276893	10:g.123276893A>C	ClinGen:CA16043910	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)	2263	FGFR2	Pathogenic	121918495	RCV000014194\|RCV001037961\|RCV001781263;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480\|MedGen:C3661900	10	123276896	123276896	10:g.123276896T>G	ClinGen:CA280176,UniProtKB:P21802#VAR_004135,OMIM:176943.0012	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)	2263	FGFR2	Pathogenic	121918510	RCV000014227\|RCV002513039;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480	10	123276955	123276955	10:g.123276955T>G	ClinGen:CA280195,UniProtKB:P21802#VAR_004129,OMIM:176943.0039	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.940-3_946delinsACC	2263	FGFR2	Pathogenic	1589828632	RCV000014216;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	10	123276971	123276980	10:g.123276972_123276980del	ClinGen:CA10575518,OMIM:176943.0031	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.940-1G>A	2263	FGFR2	Pathogenic	879253719	RCV000014215\|RCV000694780;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480	10	123276978	123276978	10:g.123276978C>T	ClinGen:CA10575517,OMIM:176943.0030	CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.940-2A>G	2263	FGFR2	Pathogenic	1057519041	RCV000415479\|RCV000558628\|RCV001559997;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480\|MedGen:CN517202	10	123276979	123276979	10:g.123276979T>C	ClinGen:CA16043914	CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet)	2263	FGFR2	Pathogenic	886037837	RCV000240846;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	10	123279551	123279568	NC_000010.10:g.123279552_123279569del	ClinGen:CA10586374	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)	2263	FGFR2	Pathogenic	121918499	RCV000014203\|RCV000419759\|RCV002254264\|RCV003150929\|RCV003421919;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782\|MONDO:MONDO:0011921,MedGen:C1842937,OMIM:607842\|MedGen:C3661900\|	10	123279562	123279562	10:g.123279562C>G	ClinGen:CA280182,UniProtKB:P21802#VAR_004124,OMIM:176943.0019	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	2263	FGFR2	Pathogenic	121918499	RCV000014217\|RCV000014218\|RCV000655418\|RCV001268882\|RCV002490362;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN042705\|MedGen:CN231480\|MedGen:C3661900\|11 conditions	10	123279562	123279562	10:g.123279562C>A	ClinGen:CA122994,UniProtKB:P21802#VAR_004124,OMIM:176943.0032	C0220658 Craniofacial-skeletal-dermatologic dysplasia;
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	2263	FGFR2	Pathogenic	121918497	RCV000014196\|RCV000014197\|RCV000415509\|RCV001217538\|RCV001572560;	N	Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480\|MedG	10	123279566	123279566	10:g.123279566T>G	ClinGen:CA280178,UniProtKB:P21802#VAR_004123,OMIM:176943.0014	C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)	2263	FGFR2	Pathogenic	776587763	RCV000255197\|RCV000415498\|RCV000557313\|RCV000844883;	N	MedGen:C3661900\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MedGen:CN231480\|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207	10	123279599	123279599	10:g.123279599C>A	ClinGen:CA5720987,UniProtKB:P21802#VAR_004121	CN231480 FGFR2 related craniosynostosis;
NM_000141.5(FGFR2):c.818_820del (p.Asp273del)	2263	FGFR2	Pathogenic	121918503	RCV000014211;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	10	123279612	123279614	10:g.123279612_123279614del	ClinGen:CA280189,OMIM:176943.0027	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)	2263	FGFR2	Pathogenic	121918505	RCV000014213\|RCV000408850\|RCV000435703\|RCV000690962\|RCV002508123;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|Human Phenotype Ontology:HP:0004439,MONDO:MONDO:0007405,MeSH:D003394,MedGen:C0010273,OMIM:123500, Orphanet:207\|MedGen:C3661900\|MedGen:CN231480\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:00	10	123279633	123279633	10:g.123279633A>G	ClinGen:CA210548,UniProtKB:P21802#VAR_004118,OMIM:176943.0029	C0010273 123500 Crouzon syndrome;
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu)	2263	FGFR2	Likely pathogenic	1057519037	RCV000415475;	N	MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	10	123279598	123279599	NC_000010.10:g.123279598_123279599delinsTA	ClinGen:CA16043918	C1863356 101600 Pfeiffer syndrome;
NM_000141.5(FGFR2):c.*736dup	2263	FGFR2	Uncertain significance	886046762	RCV000266721\|RCV000303069\|RCV000306624\|RCV000309997\|RCV000346095\|RCV000357969\|RCV000361332\|RCV000398211\|RCV000398207;	N	MedGen:CN043619\|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710\|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87\|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphan	10	123238634	123238635	NC_000010.10:g.123238635dup	ClinGen:CA10631068	C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.110-22TC[3]	2263	FGFR2	Conflicting interpretations of pathogenicity	773932794	RCV000261993\|RCV000267981\|RCV000275299\|RCV000311649\|RCV000317100\|RCV000323000\|RCV000356791\|RCV000371758\|RCV000377753\|RCV002059527;	N	MedGen:CN043619\|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540\|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87\|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730, Orphanet:2363\|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orp	10	123325233	123325234	NC_000010.10:g.123325233GA[3]	ClinGen:CA5721218	C0001193 101200 Acrocephalosyndactyly type I;
NC_000008.10:g.(?_37595441)_(38961219_?)del	-1	subset of 23 genes: FGFR1	Pathogenic	-1	RCV001950890\|RCV001970153;	N	MedGen:C3661900\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478; MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600, Orphanet:710	8	37595441	38961219	-1	-

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