Total 33 pathogenic variants reported for Osteoglophonic dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_023110.3(FGFR1):c.989A>T (p.Asn330Ile) SNV
Germline		 Chr8:38421889 Pathogenic Osteoglophonic dysplasia No Assertion Criteria Provided
 CA126353 rs_121909632

1 SubmittersRCV000017678
NM_023110.3(FGFR1):c.1121A>G (p.Tyr374Cys) SNV
Germline		 Chr8:38419696 Pathogenic Osteoglophonic dysplasia No Assertion Criteria Provided
 CA126354 rs_121909631

1 SubmittersRCV000017679
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) SNV
Germline		 Chr8:38419676 Pathogenic/Likely pathogenic Osteoglophonic dysplasia
Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126356 rs_121909634

3 SubmittersRCV000017682RCV002254904RCV002514106
NM_023110.3(FGFR1):c.2293-11G>A SNV
Germline		 Chr8:38413815 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Trigonocephaly 1
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 CA10625389 rs_886062919

2 SubmittersRCV000294107RCV000295326RCV000333930RCV000385866RCV002058729
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) SNV
Germline		 Chr8:38428379 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Trigonocephaly 1
Condition: not provided
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Inborn genetic diseases
Craniosynostosis syndrome		 Criteria Provided
Conflicting Classifications
 CA4718752 rs_201054877

4 SubmittersRCV000289001RCV000347374RCV000391006RCV001584091RCV001861321RCV002523679RCV000386920
NM_023110.3(FGFR1):c.*494A>G SNV
Germline		 Chr8:38413134 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia		 Criteria Provided
Conflicting Classifications
 CA10627726 rs_562843836

1 SubmittersRCV000262307RCV000302477RCV000353718RCV000357211
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) SNV
Germline		 Chr8:38418290 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis, nonspecific
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4718401 rs_200776757

9 SubmittersRCV000284766RCV000337400RCV000343209RCV000404673RCV000408775RCV000703651RCV001528843
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) SNV
Germline		 Chr8:38427993 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Trigonocephaly 1
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10627741 rs_886062920

3 SubmittersRCV000350262RCV000362873RCV000395523RCV000404923RCV001403682RCV004544702
NM_023110.3(FGFR1):c.359-4A>G SNV
Germline		 Chr8:38428439 Conflicting classifications of pathogenicity Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4718770 rs_185233212

5 SubmittersRCV000261182RCV000301233RCV000332863RCV000371147RCV000866450RCV001551170
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) SNV
Germline		 Chr8:38429767 Conflicting classifications of pathogenicity Trigonocephaly 1
Osteoglophonic dysplasia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 CA4718832 rs_201823433

2 SubmittersRCV000270450RCV000307070RCV000366421RCV000369735RCV001464330
NM_023110.2(FGFR1):c.-853G>C SNV
Germline		 Chr8:38468745 Conflicting classifications of pathogenicity Trigonocephaly 1
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10627755 rs_553799602

2 SubmittersRCV000313718RCV000312183RCV000366748RCV000405118RCV003422358
NM_023110.3(FGFR1):c.*1026T>C SNV
Germline		 Chr8:38412602 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Trigonocephaly 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10630954 rs_542417198

2 SubmittersRCV000297496RCV000337329RCV000370856RCV000396128RCV003437140
NM_023110.3(FGFR1):c.663G>T (p.Val221=) SNV
Germline		 Chr8:38426204 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Trigonocephaly 1
Osteoglophonic dysplasia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia		 Criteria Provided
Conflicting Classifications
 CA4718673 rs_766451294

2 SubmittersRCV000281294RCV000321287RCV000338752RCV000378184RCV001478554
NM_023110.3(FGFR1):c.*14G>A SNV
Germline		 Chr8:38413614 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Osteoglophonic dysplasia
Trigonocephaly 1		 Criteria Provided
Conflicting Classifications
 CA4718060 rs_371776128

1 SubmittersRCV000295575RCV000335152RCV000403057RCV000403971
NM_023110.3(FGFR1):c.1430+13T>C SNV
Germline		 Chr8:38418215 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia		 Criteria Provided
Conflicting Classifications
 CA4718385 rs_763815221

2 SubmittersRCV000271401RCV000285905RCV000328758RCV000386851RCV002058730
NM_023110.3(FGFR1):c.-338T>G SNV
Germline		 Chr8:38468230 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia		 Criteria Provided
Conflicting Classifications
 CA10630975 rs_527518565

1 SubmittersRCV000296562RCV000332833RCV000386086RCV000382798
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) SNV
Germline		 Chr8:38413932 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Condition: not provided
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Trigonocephaly 1		 Criteria Provided
Conflicting Classifications
 CA4718131 rs_201490643

4 SubmittersRCV001078934RCV000726653RCV001164856RCV001164857RCV001164855RCV001164854
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) SNV
Germline		 Chr8:38413633 Conflicting classifications of pathogenicity Condition: not provided
Trigonocephaly 1
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4718065 rs_17182463

5 SubmittersRCV000644522RCV001159834RCV001159835RCV001159836RCV001159837RCV002060753RCV004533371
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) SNV
Germline		 Chr8:38429872 Conflicting classifications of pathogenicity Condition: not provided
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
FGFR1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_147482922

4 SubmittersRCV000711645RCV001158598RCV001165323RCV001165324RCV001483664RCV001165322RCV004544956
NM_023110.3(FGFR1):c.917C>T (p.Pro306Leu) SNV
Germline		 Chr8:38424528 Likely pathogenic Osteoglophonic dysplasia Criteria Provided
Single Submitter
 rs_1586287963

1 SubmittersRCV000787327
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) SNV
Germline		 Chr8:38414887 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 rs_780009859

2 SubmittersRCV001162901RCV001162902RCV001162903RCV001162904RCV002064519
NM_023110.3(FGFR1):c.1431-5G>A SNV
Germline		 Chr8:38417996 Conflicting classifications of pathogenicity Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201773631

5 SubmittersRCV001160068RCV001160069RCV001160070RCV001160071RCV001497484RCV002539010RCV000868644
NM_023110.3(FGFR1):c.1469G>T (p.Gly490Val) SNV
Unknown		 Chr8:38417953 Likely pathogenic Osteoglophonic dysplasia Criteria Provided
Single Submitter
 rs_1586172462

1 SubmittersRCV000988049
NM_023110.3(FGFR1):c.*1982A>C SNV
Germline		 Chr8:38411646 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome		 Criteria Provided
Conflicting Classifications
 rs_536000259

1 SubmittersRCV001159124RCV001159122RCV001159123RCV001160472
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) SNV
Germline		 Chr8:38413646 Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1014179319

2 SubmittersRCV001159839RCV001161239RCV001159838RCV001159840RCV002070974
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) SNV
Germline		 Chr8:38413698 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 rs_377620009

2 SubmittersRCV001161240RCV001161241RCV001161243RCV001161242RCV001859044
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) SNV
Germline		 Chr8:38414583 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 rs_771078736

3 SubmittersRCV001161356RCV001161357RCV001161358RCV001161359RCV001779123RCV003769772
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) SNV
Germline		 Chr8:38424584 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1370490922

2 SubmittersRCV001165096RCV001165095RCV001165093RCV001165094RCV003769796
NM_023110.3(FGFR1):c.741C>T (p.Val247=) SNV
Germline		 Chr8:38426126 Conflicting classifications of pathogenicity Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 rs_745325958

2 SubmittersRCV001158382RCV001158383RCV001158385RCV001158384RCV001423260
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) SNV
Germline		 Chr8:38429766 Conflicting classifications of pathogenicity Osteoglophonic dysplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome
FGFR1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_755828990

3 SubmittersRCV001163226RCV001165321RCV001163227RCV001163225RCV002557393RCV004538383
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) SNV
Germline		 Chr8:38457379 Conflicting classifications of pathogenicity Trigonocephaly 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Craniosynostosis syndrome
Osteoglophonic dysplasia
Condition: not provided
Hypogonadotropic hypogonadism 2 with or without anosmia
Pfeiffer syndrome		 Criteria Provided
Conflicting Classifications
 rs_143341876

3 SubmittersRCV001161823RCV001161822RCV001161821RCV001163335RCV003319443RCV003769778
NM_023110.3(FGFR1):c.-578A>C SNV
Germline		 Chr8:38468470 Conflicting classifications of pathogenicity Trigonocephaly 1
Osteoglophonic dysplasia
Craniosynostosis syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_558180061

2 SubmittersRCV001158932RCV001163855RCV001163856RCV001163857RCV003425963
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) SNV
Germline		 Chr8:38457381 Conflicting classifications of pathogenicity Pfeiffer syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia
Condition: not provided
not specified
Osteoglophonic dysplasia		 Criteria Provided
Conflicting Classifications
 rs_17175750

5 SubmittersRCV001520874RCV001565165RCV001658222RCV001843591