Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	SNV Germline	Chr10:121517378	Pathogenic/Likely pathogenic	Crouzon syndrome Pfeiffer syndrome FGFR2-related craniosynostosis 11 conditions Condition: not provided Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Craniosynostosis syndrome 11 conditions Common craniosynostosis syndromes	Criteria Provided Multiple Submitters No Conflicts	CA280168	rs_121918487	19 SubmittersRCV000014173 RCV000014174 RCV000547490 RCV000762801 RCV001090933 RCV001196204 RCV001730471 RCV004795406 RCV006605188
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)	SNV Germline	Chr10:121517385	Pathogenic	Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided Common craniosynostosis syndromes	Criteria Provided Multiple Submitters No Conflicts	CA280169	rs_121918489	8 SubmittersRCV000014175 RCV001214882 RCV001723564 RCV006461159
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)	SNV Germline	Chr10:121517342	Pathogenic	Crouzon syndrome FGFR2-related craniosynostosis Inborn genetic diseases Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA280170	rs_121918490	9 SubmittersRCV000014176 RCV000655419 RCV000623131 RCV001565300 RCV002287333
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)	SNV Germline	Chr10:121517379	Pathogenic	Pfeiffer syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Crouzon syndrome Jackson-Weiss syndrome FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256745	rs_121918488	10 SubmittersRCV000014178 RCV000014180 RCV000014177 RCV000014179 RCV000534888 RCV001723565
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)	SNV Germline	Chr10:121517379	Pathogenic	Crouzon syndrome Jackson-Weiss syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Pfeiffer syndrome Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA256746	rs_121918488	5 SubmittersRCV000014181 RCV000014182 RCV000014183 RCV000415484 RCV000490034 RCV000655416
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	SNV Germline	Chr10:121517371	Pathogenic	SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY Crouzon syndrome CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT Craniosynostosis syndrome FGFR2-related craniosynostosis 11 conditions Condition: not provided Acrocephalosyndactyly type I FGFR2-related disorder 11 conditions Common craniosynostosis syndromes Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122983	rs_121918491	15 SubmittersRCV000014186 RCV000014184 RCV000014185 RCV000192353 RCV000686210 RCV000762800 RCV001579726 RCV002247335 RCV002280092 RCV002482864 RCV005887496 RCV005887495
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)	SNV Germline	Chr10:121517372	Pathogenic	Crouzon syndrome Jackson-Weiss syndrome FGFR2-related craniosynostosis Pfeiffer syndrome FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280171	rs_121918492	4 SubmittersRCV000014188 RCV000014187 RCV001851846 RCV003313919 RCV005249989
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys)	SNV Germline	Chr10:121517420	Pathogenic/Likely pathogenic	Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280172	rs_121918493	4 SubmittersRCV000014189 RCV000798719 RCV004700231
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	SNV Germline	Chr10:121517363	Pathogenic/Likely pathogenic	Crouzon syndrome Condition: not provided FGFR2-related craniosynostosis 22 conditions Pfeiffer syndrome Meier-Gorlin syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA280173	rs_121918494	9 SubmittersRCV000014190 RCV000726654 RCV000655421 RCV000626619 RCV001823713 RCV004813038
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	SNV Germline/somatic	Chr10:121520163	Pathogenic	Acrocephalosyndactyly type I Endometrial carcinoma Condition: not provided FGFR2-related craniosynostosis 11 conditions FGFR2-related disorder Pfeiffer syndrome Inborn genetic diseases Neoplasm Liver cancer	Criteria Provided Multiple Submitters No Conflicts	CA122985	rs_79184941	39 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000552015 RCV002476961 RCV004532334 RCV004527288 RCV005841520 RCV005229786 RCV006253543
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	SNV Germline	Chr10:121520160	Pathogenic/Likely pathogenic	Acrocephalosyndactyly type I Condition: not provided FGFR2-related craniosynostosis 11 conditions Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis FGFR2-related disorder Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280174	rs_77543610	22 SubmittersRCV000014193 RCV000489611 RCV000532721 RCV000762803 RCV001197223 RCV004532335 RCV005859461
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)	SNV Germline	Chr10:121517382	Pathogenic	Pfeiffer syndrome FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280176	rs_121918495	7 SubmittersRCV000014194 RCV001037961 RCV001781263
NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp)	SNV Germline	Chr10:121517377	Pathogenic	Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided Common craniosynostosis syndromes	Criteria Provided Multiple Submitters No Conflicts	CA280177	rs_121918496	5 SubmittersRCV000014195 RCV000535651 RCV001588812 RCV006272127
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	SNV Germline	Chr10:121520052	Pathogenic	Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome FGFR2-related craniosynostosis Condition: not provided Inborn genetic diseases FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280178	rs_121918497	9 SubmittersRCV000014196 RCV000014197 RCV000415509 RCV001217538 RCV001572560 RCV005831545 RCV005867753
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	SNV Germline/somatic	Chr10:121515280	Pathogenic/Likely pathogenic	Beare-Stevenson cutis gyrata syndrome Endometrial carcinoma Condition: not provided FGFR2-related craniosynostosis 11 conditions FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122987	rs_121913478	12 SubmittersRCV000014198 RCV000014199 RCV000224124 RCV000549100 RCV000762799 RCV004532336
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys)	SNV Germline	Chr10:121515289	Pathogenic	Beare-Stevenson cutis gyrata syndrome FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA256747	rs_121913477	2 SubmittersRCV000014200 RCV001382546
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)	SNV Germline	Chr10:121520048	Pathogenic	Pfeiffer syndrome Aural atresia, congenital Condition: not provided FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280182	rs_121918499	6 SubmittersRCV000014203 RCV002254264 RCV003150929 RCV004532337
NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu)	SNV Germline	Chr10:121520044	Likely pathogenic	Crouzon syndrome FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA280183	rs_121918500	2 SubmittersRCV000014204 RCV002513037
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)	SNV Germline	Chr10:121520050	Pathogenic	Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280185	rs_121918501	7 SubmittersRCV000014205 RCV000537718 RCV001549469
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly)	SNV Germline	Chr10:121520050	Pathogenic	Crouzon syndrome FGFR2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280187	rs_121918501	4 SubmittersRCV000014206 RCV004724741 RCV005629900
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	SNV Germline	Chr10:121517351	Pathogenic	Pfeiffer syndrome type 3 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Condition: not provided Pfeiffer syndrome FGFR2-related craniosynostosis Crouzon syndrome FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122991	rs_121918502	11 SubmittersRCV000014208 RCV000014209 RCV000256107 RCV000415503 RCV000528973 RCV003313920 RCV004737152
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)	SNV Germline	Chr10:121517460	Pathogenic	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL Crouzon syndrome Condition: not provided FGFR2-related craniosynostosis 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA122992	rs_121918504	7 SubmittersRCV000014212 RCV000856813 RCV001280733 RCV001851847 RCV002496355
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)	SNV Germline/somatic	Chr10:121520119	Pathogenic	Pfeiffer syndrome Crouzon syndrome Condition: not provided FGFR2-related craniosynostosis Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA210548	rs_121918505	7 SubmittersRCV000014213 RCV000408850 RCV000435703 RCV000690962 RCV002508123
NM_000141.5(FGFR2):c.940-1G>A	SNV Germline	Chr10:121517464	Pathogenic	Pfeiffer syndrome FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA10575517	rs_879253719	2 SubmittersRCV000014215 RCV000694780
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	SNV Germline	Chr10:121520048	Pathogenic	Pfeiffer syndrome CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA FGFR2-related craniosynostosis Condition: not provided 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA122994	rs_121918499	10 SubmittersRCV000014217 RCV000014218 RCV000655418 RCV001268882 RCV002490362
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	SNV Germline	Chr10:121496701	Pathogenic/Likely pathogenic	Pfeiffer syndrome FGFR2-related craniosynostosis Condition: not provided FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280192	rs_121918506	7 SubmittersRCV000014219 RCV001851848 RCV003441716 RCV004532338
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)	SNV Germline	Chr10:121498591	Pathogenic/Likely pathogenic	Crouzon syndrome Familial scaphocephaly syndrome, McGillivray type Pfeiffer syndrome Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA122996	rs_121918507	4 SubmittersRCV000014220 RCV000014221 RCV003988821 RCV004760330 RCV005089251
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)	SNV Germline	Chr10:121488035	Pathogenic	Levy-Hollister syndrome Condition: not provided FGFR2-related craniosynostosis Familial scaphocephaly syndrome, McGillivray type LADD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA122998	rs_121918508	6 SubmittersRCV000014222 RCV001291623 RCV002513038 RCV004767007 RCV006451761
NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr)	SNV Germline	Chr10:121488095	Pathogenic	Condition: not provided LADD syndrome 1	Criteria Provided Single Submitter	CA123000	rs_121918509	2 SubmittersRCV000414415 RCV006451763
NM_000141.5(FGFR2):c.1084+3A>G	SNV Germline	Chr10:121517316	Pathogenic	Pfeiffer syndrome Crouzon syndrome FGFR2-related craniosynostosis Acrocephalosyndactyly type I Pfeiffer syndrome Crouzon syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575520	rs_879253721	5 SubmittersRCV000014225 RCV000014226 RCV001382547 RCV001254178 RCV002273930
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)	SNV Germline	Chr10:121517441	Pathogenic	Pfeiffer syndrome FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA280195	rs_121918510	3 SubmittersRCV000014227 RCV002513039
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro)	SNV Germline	Chr10:121517394	Pathogenic/Likely pathogenic	Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280240	rs_387906676	4 SubmittersRCV000022732 RCV002513173 RCV005241334
NM_000141.5(FGFR2):c.1172T>G (p.Met391Arg)	SNV Germline	Chr10:121515232	Pathogenic	Bent bone dysplasia syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA128693	rs_387906677	2 SubmittersRCV000022734 RCV000493423
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)	SNV Germline	Chr10:121515263	Pathogenic	Bent bone dysplasia syndrome 1 Inborn genetic diseases Condition: not provided FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128695	rs_387906678	6 SubmittersRCV000022735 RCV000190765 RCV000725446 RCV004528130
NM_000141.5(FGFR2):c.34G>A (p.Val12Met)	SNV Germline	Chr10:121593784	Conflicting classifications of pathogenicity	not specified Condition: not provided FGFR2-related craniosynostosis FGFR2-related disorder 11 conditions	Criteria Provided Conflicting Classifications	CA159665	rs_143978938	8 SubmittersRCV000121061 RCV000432180 RCV002055337 RCV004542874 RCV005394416
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)	SNV Germline	Chr10:121593795	Conflicting classifications of pathogenicity	not specified Condition: not provided FGFR2-related craniosynostosis Isolated Coronal Synostosis Saethre-Chotzen syndrome Craniosynostosis syndrome Beare-Stevenson cutis gyrata syndrome Crouzon syndrome FGFR2-related disorder	Criteria Provided Conflicting Classifications	CA159667	rs_147307031	7 SubmittersRCV000121062 RCV000756160 RCV001078866 RCV001103882 RCV001103883 RCV001103884 RCV001107510 RCV001107511 RCV004530000
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=)	SNV Germline	Chr10:121487371	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA240424	rs_751495618	2 SubmittersRCV000174827 RCV002516646
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=)	SNV Germline	Chr10:121485484	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA240641	rs_794727163	2 SubmittersRCV000174990 RCV005089879
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)	SNV Germline	Chr10:121520085	Pathogenic	Condition: not provided Pfeiffer syndrome FGFR2-related craniosynostosis Crouzon syndrome FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5720987	rs_776587763	9 SubmittersRCV000255197 RCV000415498 RCV000557313 RCV000844883 RCV004737395
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp)	SNV Germline	Chr10:121551346	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA5721097	rs_147987917	3 SubmittersRCV000306598 RCV003753111
NM_000141.5(FGFR2):c.*111G>A	SNV Germline	Chr10:121479746	Conflicting classifications of pathogenicity	Craniosynostosis syndrome Beare-Stevenson cutis gyrata syndrome Crouzon syndrome Saethre-Chotzen syndrome Isolated Coronal Synostosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10628108	rs_574474794	2 SubmittersRCV000273494 RCV000285345 RCV000325142 RCV000364461 RCV000382095 RCV003391059
NM_000141.5(FGFR2):c.-135C>T	SNV Germline	Chr10:121593952	Conflicting classifications of pathogenicity	Crouzon syndrome Beare-Stevenson cutis gyrata syndrome Craniosynostosis syndrome Isolated Coronal Synostosis Saethre-Chotzen syndrome	Criteria Provided Conflicting Classifications	CA10628114	rs_554557891	1 SubmittersRCV000266910 RCV000273663 RCV000355593 RCV000376851 RCV000380311
NM_000141.5(FGFR2):c.1562-11A>G	SNV Germline	Chr10:121498616	Conflicting classifications of pathogenicity	Crouzon syndrome Isolated Coronal Synostosis Beare-Stevenson cutis gyrata syndrome Craniosynostosis syndrome Saethre-Chotzen syndrome FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA5720700	rs_41293744	2 SubmittersRCV000279290 RCV000314648 RCV000334405 RCV000342883 RCV000403467 RCV005090434
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=)	SNV Germline	Chr10:121500848	Conflicting classifications of pathogenicity	Isolated Coronal Synostosis Craniosynostosis syndrome Crouzon syndrome Saethre-Chotzen syndrome Beare-Stevenson cutis gyrata syndrome FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA10631081	rs_74160617	2 SubmittersRCV000279093 RCV000320169 RCV000294423 RCV000349333 RCV000404985 RCV006629128
NM_000141.5(FGFR2):c.625-10A>G	SNV Germline	Chr10:121538725	Conflicting classifications of pathogenicity	Beare-Stevenson cutis gyrata syndrome Isolated Coronal Synostosis Crouzon syndrome Saethre-Chotzen syndrome Craniosynostosis syndrome not specified FGFR2-related craniosynostosis FGFR2-related disorder	Criteria Provided Conflicting Classifications	CA5721075	rs_201512833	4 SubmittersRCV000294102 RCV000288101 RCV000345434 RCV000386009 RCV000405259 RCV001820865 RCV002059526 RCV004544501
NM_000141.5(FGFR2):c.*674G>T	SNV Germline	Chr10:121479183	Conflicting classifications of pathogenicity	Beare-Stevenson cutis gyrata syndrome Isolated Coronal Synostosis Crouzon syndrome Craniosynostosis syndrome Saethre-Chotzen syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10634793	rs_566155088	2 SubmittersRCV000263242 RCV000292614 RCV000318442 RCV000354604 RCV000383383 RCV003391058
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys)	SNV Germline	Chr10:121496621	Conflicting classifications of pathogenicity	Beare-Stevenson cutis gyrata syndrome Saethre-Chotzen syndrome Craniosynostosis syndrome Crouzon syndrome Isolated Coronal Synostosis FGFR2-related craniosynostosis 11 conditions	Criteria Provided Conflicting Classifications	CA5720652	rs_141929882	3 SubmittersRCV000305351 RCV000340231 RCV000341569 RCV000357145 RCV000396197 RCV001859778 RCV005033858
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)	SNV Germline	Chr10:121479907	Conflicting classifications of pathogenicity	Craniosynostosis syndrome Beare-Stevenson cutis gyrata syndrome Crouzon syndrome Saethre-Chotzen syndrome Isolated Coronal Synostosis Condition: not provided FGFR2-related craniosynostosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5720449	rs_764959117	4 SubmittersRCV000284236 RCV000311542 RCV000324015 RCV000336994 RCV000376381 RCV001753763 RCV003753112 RCV006342218
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)	SNV Germline	Chr10:121515165	Conflicting classifications of pathogenicity	Crouzon syndrome Isolated Coronal Synostosis Beare-Stevenson cutis gyrata syndrome Saethre-Chotzen syndrome Craniosynostosis syndrome FGFR2-related craniosynostosis FGFR2-related disorder	Criteria Provided Conflicting Classifications	CA5720812	rs_147674677	3 SubmittersRCV000305286 RCV000308682 RCV000317604 RCV000360045 RCV000402531 RCV002059523 RCV004544500
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)	SNV Germline	Chr10:121488055	Pathogenic/Likely pathogenic	Pfeiffer syndrome Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA16043905	rs_1057519047	4 SubmittersRCV000415480 RCV000731782 RCV006462605
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	SNV Germline	Chr10:121496701	Pathogenic/Likely pathogenic	Pfeiffer syndrome Condition: not provided FGFR2-related craniosynostosis 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA16043906	rs_121918506	5 SubmittersRCV000415495 RCV001549391 RCV001865307 RCV002488862
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)	SNV Germline/somatic	Chr10:121498522	Pathogenic/Likely pathogenic	Crouzon syndrome Pemigatinib resistance FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA16043908	rs_1057519045	3 SubmittersRCV000415507 RCV000786040 RCV006462604
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe)	SNV Germline	Chr10:121517378	Pathogenic	Jackson-Weiss syndrome FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043909	rs_121918487	3 SubmittersRCV000415490 RCV000815502 RCV004701459
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)	SNV Germline	Chr10:121517378	Pathogenic	Jackson-Weiss syndrome FGFR2-related craniosynostosis Crouzon syndrome Condition: not provided Pfeiffer syndrome FGFR2-related disorder Crouzon syndrome Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10575447	rs_121918487	12 SubmittersRCV000415499 RCV000560038 RCV000856727 RCV001729573 RCV003155177 RCV004737463 RCV006268764
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)	SNV Germline	Chr10:121517379	Pathogenic	Pfeiffer syndrome FGFR2-related syndromic and non-syndromic craniosynostoses Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA16043910	rs_121918488	4 SubmittersRCV000415501 RCV001270790 RCV001591054 RCV001861462
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	SNV Germline	Chr10:121517390	Pathogenic/Likely pathogenic	Crouzon syndrome 11 conditions FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA16043911	rs_1057519044	3 SubmittersRCV000415513 RCV000762802 RCV001377881
NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg)	SNV Germline	Chr10:121517391	Pathogenic	Crouzon syndrome FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA16043912	rs_1057519043	3 SubmittersRCV000415494 RCV001381651
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)	SNV Germline	Chr10:121517396	Pathogenic/Likely pathogenic	Crouzon syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16043913	rs_1057519042	2 SubmittersRCV000415483
NM_000141.5(FGFR2):c.940-2A>G	SNV Germline	Chr10:121517465	Conflicting classifications of pathogenicity	Pfeiffer syndrome FGFR2-related craniosynostosis Condition: not provided 11 conditions	Criteria Provided Conflicting Classifications	CA16043914	rs_1057519041	6 SubmittersRCV000415479 RCV000558628 RCV001559997 RCV004796173
NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys)	SNV Germline	Chr10:121519995	Pathogenic/Likely pathogenic	Crouzon syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043915	rs_1057519040	2 SubmittersRCV000415502 RCV005621943
NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser)	SNV Germline	Chr10:121520049	Pathogenic	Crouzon syndrome	Criteria Provided Single Submitter	CA16043916	rs_1057519039	1 SubmittersRCV000415506
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)	SNV Germline	Chr10:121520076	Likely pathogenic	Crouzon syndrome Condition: not provided FGFR2-related craniosynostosis FGFR2-related disorder Common craniosynostosis syndromes	Criteria Provided Multiple Submitters No Conflicts	CA16043917	rs_1057519038	5 SubmittersRCV000415488 RCV001547058 RCV002524678 RCV004544729 RCV006443341
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)	SNV Germline	Chr10:121520092	Pathogenic	Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043919	rs_1057519036	6 SubmittersRCV000415486 RCV000655413 RCV001723974
NM_000141.5(FGFR2):c.138A>C (p.Gln46His)	SNV Germline	Chr10:121565676	Conflicting classifications of pathogenicity	Craniosynostosis, nonspecific FGFR2-related craniosynostosis 11 conditions	Criteria Provided Conflicting Classifications	CA5721212	rs_748117555	3 SubmittersRCV000415491 RCV001861461 RCV002481290
NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His)	SNV Germline	Chr10:121515263	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16602762	rs_387906678	1 SubmittersRCV003229832
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)	SNV Germline/somatic	Chr10:121515260	Pathogenic/Likely pathogenic	Condition: not provided Beare-Stevenson cutis gyrata syndrome Adenoid cystic carcinoma Neoplasm Sialoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA16602866	rs_121913474	6 SubmittersRCV003322768 RCV005603622 RCV004813093 RCV006273731 RCV006254007
NM_000141.5(FGFR2):c.1925T>A (p.Ile642Lys)	SNV Germline	Chr10:121488052	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16618938	rs_1064796413	1 SubmittersRCV000478596
NM_000141.5(FGFR2):c.1142A>G (p.Tyr381Cys)	SNV Germline	Chr10:121515262	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16618939	rs_1064796452	1 SubmittersRCV000482209
NM_000141.5(FGFR2):c.1019A>G (p.Tyr340Cys)	SNV Germline	Chr10:121517384	Pathogenic	Condition: not provided FGFR2-related craniosynostosis Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA378328024	rs_1554928884	7 SubmittersRCV000523700 RCV001232531 RCV004796222
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)	SNV Germline	Chr10:121565500	Pathogenic/Likely pathogenic	Condition: not provided FGFR2-related craniosynostosis 11 conditions Bent bone dysplasia syndrome 1 Crouzon syndrome Inborn genetic diseases Acrocephalosyndactyly type I	Criteria Provided Multiple Submitters No Conflicts	CA378324800	rs_1434545235	12 SubmittersRCV000522502 RCV000531359 RCV000762805 RCV002291280 RCV003128407 RCV004975610 RCV005603635
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)	SNV Germline	Chr10:121515254	Pathogenic	FGFR2-related craniosynostosis 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA378327226	rs_1554927408	2 SubmittersRCV000525216 RCV000762798
NM_000141.5(FGFR2):c.940G>T (p.Ala314Ser)	SNV Germline	Chr10:121517463	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Conflicting Classifications	CA378328613	rs_1358919643	2 SubmittersRCV000534665 RCV001755916
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)	SNV Germline	Chr10:121565525	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis FGFR2-realated disorder 11 conditions FGFR2-related disorder	Criteria Provided Conflicting Classifications	CA5721181	rs_372430349	5 SubmittersRCV000592272 RCV001302577 RCV002245031 RCV002483578 RCV004737855
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=)	SNV Germline	Chr10:121515318	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA471652693	rs_151250769	2 SubmittersRCV000592421 RCV002065159
NM_000141.5(FGFR2):c.759T>G (p.Pro253=)	SNV Germline	Chr10:121520159	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA5721004	rs_3135755	4 SubmittersRCV000594519 RCV001085609
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=)	SNV Germline	Chr10:121485466	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA5720549	rs_140813163	2 SubmittersRCV000595612 RCV002062091
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)	SNV Germline	Chr10:121485400	Conflicting classifications of pathogenicity	Craniosynostosis syndrome Beare-Stevenson cutis gyrata syndrome Saethre-Chotzen syndrome Isolated Coronal Synostosis Crouzon syndrome Condition: not provided FGFR2-related craniosynostosis FGFR2-related disorder	Criteria Provided Conflicting Classifications	CA5720545	rs_55637244	5 SubmittersRCV001108507 RCV001108506 RCV001106281 RCV001106282 RCV001108505 RCV001698024 RCV002065445 RCV004530809
NM_000141.5(FGFR2):c.1991G>A (p.Arg664Gln)	SNV Germline	Chr10:121487420	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA378313384	rs_1554907364	1 SubmittersRCV000624844
NM_000141.5(FGFR2):c.1012G>T (p.Gly338Trp)	SNV Germline	Chr10:121517391	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378328091	rs_1057519043	1 SubmittersRCV000655417
NM_000141.5(FGFR2):c.834C>G (p.Cys278Trp)	SNV Germline	Chr10:121520084	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378330887	rs_1554930790	1 SubmittersRCV000655420
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val)	SNV Germline	Chr10:121487390	Likely pathogenic	Levy-Hollister syndrome	Criteria Provided Single Submitter	CA378313216	rs_1554907337	1 SubmittersRCV000659649
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)	SNV Germline	Chr10:121500910	Likely pathogenic	Levy-Hollister syndrome	Criteria Provided Single Submitter	CA378323223	rs_1554917471	1 SubmittersRCV000659648
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)	SNV Germline	Chr10:121520163	Conflicting classifications of pathogenicity	Crouzon syndrome FGFR2-related craniosynostosis Condition: not provided FGFR2-related disorder not specified	Criteria Provided Conflicting Classifications	CA5721006	rs_79184941	9 SubmittersRCV000664049 RCV001313539 RCV002298724 RCV004527721 RCV003987651
NM_000141.5(FGFR2):c.1717C>T (p.Arg573Ter)	SNV Germline	Chr10:121496678	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA378320514	rs_1564875577	1 SubmittersRCV000681721
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)	SNV Germline	Chr10:121520106	Pathogenic/Likely pathogenic	FGFR2-related craniosynostosis Crouzon syndrome	Criteria Provided Multiple Submitters No Conflicts	CA378330949	rs_1564919048	3 SubmittersRCV000695392 RCV000856806
NM_000141.5(FGFR2):c.1012G>A (p.Gly338Arg)	SNV Germline/somatic	Chr10:121517391	Pathogenic	FGFR2-related craniosynostosis Neoplasm	Criteria Provided Single Submitter	CA378328094	rs_1057519043	2 SubmittersRCV000695897 RCV006273996
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)	SNV Germline	Chr10:121517414	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis 11 conditions Craniosynostosis syndrome Condition: not provided Crouzon syndrome Isolated Coronal Synostosis Saethre-Chotzen syndrome Beare-Stevenson cutis gyrata syndrome 11 conditions not specified	Criteria Provided Conflicting Classifications	CA5720881	rs_199757302	5 SubmittersRCV000700533 RCV000763646 RCV001108748 RCV001536168 RCV001106572 RCV001106573 RCV001106574 RCV001108749 RCV005034316 RCV006459835
NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn)	SNV Germline	Chr10:121488000	Pathogenic	FGFR2-related craniosynostosis Condition: not provided FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA378314117	rs_1589722765	3 SubmittersRCV000818805 RCV001805896 RCV004528313
NM_000141.5(FGFR2):c.780C>T (p.Ala260=)	SNV Germline	Chr10:121520138	Conflicting classifications of pathogenicity	Saethre-Chotzen syndrome Craniosynostosis syndrome Beare-Stevenson cutis gyrata syndrome Isolated Coronal Synostosis Crouzon syndrome FGFR2-related craniosynostosis FGFR2-related disorder	Criteria Provided Conflicting Classifications	CA5721001	rs_778288494	3 SubmittersRCV001103587 RCV001103588 RCV001103589 RCV001103586 RCV001105524 RCV001462126 RCV004533655
NM_000141.5(FGFR2):c.714G>A (p.Gly238=)	SNV Germline	Chr10:121538626	Conflicting classifications of pathogenicity	Condition: not provided Craniosynostosis syndrome Saethre-Chotzen syndrome Crouzon syndrome Isolated Coronal Synostosis Beare-Stevenson cutis gyrata syndrome	Criteria Provided Conflicting Classifications	CA471656477	rs_1276387170	2 SubmittersRCV000903031 RCV001106677 RCV001106679 RCV001105530 RCV001105531 RCV001106678
NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val)	SNV Germline	Chr10:121500843	Pathogenic	Levy-Hollister syndrome	No Assertion Criteria Provided	CA378322753	rs_1847510893	1 SubmittersRCV001250712
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)	SNV Germline	Chr10:121520160	Conflicting classifications of pathogenicity	Acrocephalosyndactyly type I FGFR2-related craniosynostosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA378331057	rs_77543610	3 SubmittersRCV001029732 RCV001228029 RCV001266231
NM_000141.5(FGFR2):c.2032A>G (p.Arg678Gly)	SNV Germline	Chr10:121487379	Pathogenic/Likely pathogenic	FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA378313172	rs_1845559552	2 SubmittersRCV001035610 RCV001593194
NM_000141.5(FGFR2):c.863T>A (p.Ile288Asn)	SNV Germline	Chr10:121520055	Pathogenic/Likely pathogenic	FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA378330706	rs_1850289942	2 SubmittersRCV001049467 RCV006279320
NM_000141.5(FGFR2):c.764G>A (p.Arg255Gln)	SNV Unknown	Chr10:121520154	Likely pathogenic	Ectrodactyly	Criteria Provided Single Submitter	CA378331047	rs_1850314485	1 SubmittersRCV001089549
NM_000141.5(FGFR2):c.833G>A (p.Cys278Tyr)	SNV Germline	Chr10:121520085	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA378330894	rs_776587763	1 SubmittersRCV001091416
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)	SNV Germline	Chr10:121498605	Conflicting classifications of pathogenicity	Craniosynostosis syndrome Saethre-Chotzen syndrome Beare-Stevenson cutis gyrata syndrome Isolated Coronal Synostosis Crouzon syndrome FGFR2-related craniosynostosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5720695	rs_55689343	3 SubmittersRCV001108582 RCV001108584 RCV001108581 RCV001108583 RCV001108585 RCV001856447 RCV005841702
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu)	SNV Germline	Chr10:121515191	Conflicting classifications of pathogenicity	Isolated Coronal Synostosis Saethre-Chotzen syndrome Craniosynostosis syndrome Crouzon syndrome Beare-Stevenson cutis gyrata syndrome 11 conditions	Criteria Provided Conflicting Classifications	CA5720815	rs_772986332	2 SubmittersRCV001103506 RCV001108662 RCV001108663 RCV001108664 RCV001108665 RCV005036405
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=)	SNV Germline	Chr10:121515237	Conflicting classifications of pathogenicity	Craniosynostosis syndrome Beare-Stevenson cutis gyrata syndrome Crouzon syndrome Saethre-Chotzen syndrome Isolated Coronal Synostosis FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA5720825	rs_757648006	2 SubmittersRCV001103507 RCV001103508 RCV001105426 RCV001105427 RCV001105428 RCV006465370
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)	SNV Germline	Chr10:121565613	Conflicting classifications of pathogenicity	Beare-Stevenson cutis gyrata syndrome Crouzon syndrome Saethre-Chotzen syndrome Craniosynostosis syndrome Isolated Coronal Synostosis FGFR2-related craniosynostosis FGFR2-related disorder	Criteria Provided Conflicting Classifications	CA5721200	rs_200386134	3 SubmittersRCV001103786 RCV001103785 RCV001103782 RCV001103783 RCV001103784 RCV002069722 RCV004536157
NM_000141.5(FGFR2):c.33C>T (p.Val11=)	SNV Germline	Chr10:121593785	Conflicting classifications of pathogenicity	Crouzon syndrome Craniosynostosis syndrome Saethre-Chotzen syndrome Isolated Coronal Synostosis Beare-Stevenson cutis gyrata syndrome FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA5721250	rs_200562301	2 SubmittersRCV001107506 RCV001107505 RCV001107507 RCV001107508 RCV001107509 RCV002555051
NM_000141.5(FGFR2):c.-626C>A	SNV Germline	Chr10:121598437	Conflicting classifications of pathogenicity	Beare-Stevenson cutis gyrata syndrome Saethre-Chotzen syndrome Isolated Coronal Synostosis Craniosynostosis syndrome Crouzon syndrome	Criteria Provided Conflicting Classifications	CA214327357	rs_549524538	1 SubmittersRCV001102648 RCV001102646 RCV001104559 RCV001104560 RCV001102647
NM_000141.5(FGFR2):c.1075G>T (p.Val359Phe)	SNV Germline	Chr10:121517328	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378327652	rs_1274989878	1 SubmittersRCV001224644
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)	SNV Germline	Chr10:121593802	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis 11 conditions Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5721255	rs_141724446	3 SubmittersRCV001296997 RCV002499543 RCV002538478
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)	SNV Germline	Chr10:121503881	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis Condition: not provided Inborn genetic diseases 11 conditions	Criteria Provided Conflicting Classifications	CA5720768	rs_536181987	4 SubmittersRCV001360671 RCV001576683 RCV004978409 RCV005005207
NM_000141.5(FGFR2):c.962A>T (p.Asp321Val)	SNV Germline	Chr10:121517441	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378328475	rs_121918510	1 SubmittersRCV001370090
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe)	SNV Germline	Chr10:121517342	Pathogenic	FGFR2-related craniosynostosis Acrocephalosyndactyly type I	Criteria Provided Multiple Submitters No Conflicts	CA378327681	rs_121918490	2 SubmittersRCV001377880 RCV002246353
NM_000141.5(FGFR2):c.1030G>C (p.Ala344Pro)	SNV Germline	Chr10:121517373	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378327927	rs_2134256250	1 SubmittersRCV001390280
NM_000141.5(FGFR2):c.1561+10G>C	SNV Germline	Chr10:121500816	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis Levy-Hollister syndrome	Criteria Provided Conflicting Classifications	CA5720712	rs_758605716	2 SubmittersRCV001408322 RCV004809587
NM_000141.5(FGFR2):c.2053G>T (p.Asp685Tyr)	SNV Germline	Chr10:121487358	Likely pathogenic	Bilateral sensorineural hearing impairment	Criteria Provided Single Submitter	CA378313044	rs_2133823028	1 SubmittersRCV001730847
NM_000141.5(FGFR2):c.1382C>T (p.Ala461Val)	SNV Germline	Chr10:121503847	Conflicting classifications of pathogenicity	Condition: not provided FGFR2-related craniosynostosis not specified	Criteria Provided Conflicting Classifications	CA5720759	rs_376451171	4 SubmittersRCV001757571 RCV003588763 RCV005437345
NM_000141.5(FGFR2):c.940-1G>T	SNV Germline	Chr10:121517464	Pathogenic	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA378328624	rs_879253719	2 SubmittersRCV001783274 RCV002034562
NM_000141.5(FGFR2):c.1084+1G>T	SNV Germline	Chr10:121517318	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA378327630	rs_2134253609	1 SubmittersRCV001816093
NM_000141.5(FGFR2):c.958A>G (p.Thr320Ala)	SNV Germline	Chr10:121517445	Pathogenic	FGFR2-related craniosynostosis Condition: not provided FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA378328495	rs_2134260022	3 SubmittersRCV001864146 RCV003238873 RCV004728861
NM_000141.5(FGFR2):c.869G>T (p.Trp290Leu)	SNV Germline	Chr10:121520049	Likely pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378330665	rs_1057519039	1 SubmittersRCV001864147
NM_000141.5(FGFR2):c.287G>T (p.Gly96Val)	SNV Germline	Chr10:121565527	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis 11 conditions	Criteria Provided Conflicting Classifications	CA378324892	rs_1277734487	2 SubmittersRCV002022822 RCV005032097
NM_000141.5(FGFR2):c.1070T>C (p.Leu357Ser)	SNV Germline	Chr10:121517333	Pathogenic	FGFR2-related craniosynostosis FGFR2-related disorder	Criteria Provided Single Submitter	CA378327662	rs_2134254345	2 SubmittersRCV001915790 RCV004538607
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)	SNV Germline	Chr10:121479897	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis 11 conditions	Criteria Provided Conflicting Classifications	CA5720447	rs_368003279	2 SubmittersRCV001945440 RCV002503589
NM_000141.5(FGFR2):c.940-2A>C	SNV Germline	Chr10:121517465	Pathogenic	Acrocephalosyndactyly type I FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA378328632	rs_1057519041	2 SubmittersRCV002249988 RCV003753216
NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn)	SNV Germline	Chr10:121488000	Pathogenic	Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Multiple Submitters No Conflicts	CA378314114	rs_1589722765	2 SubmittersRCV002269634 RCV003101535
NM_000141.5(FGFR2):c.1600G>A (p.Glu534Lys)	SNV Germline	Chr10:121498567	Likely pathogenic	Levy-Hollister syndrome	No Assertion Criteria Provided	CA378321623	rs_2133975330	1 SubmittersRCV002291169
NM_000141.5(FGFR2):c.1084+2T>C	SNV Germline	Chr10:121517317	Pathogenic	FGFR2-related craniosynostosis Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA378327628	rs_2134253566	2 SubmittersRCV003058266 RCV005002018
NM_000141.5(FGFR2):c.1084+1G>A	SNV Germline	Chr10:121517318	Pathogenic	FGFR2-related craniosynostosis FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA378327631	rs_2134253609	2 SubmittersRCV003062302 RCV004529197
NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln)	SNV Germline	Chr10:121515130	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis Autosomal dominant syndrome including deafness	Criteria Provided Conflicting Classifications	CA214305230	rs_998662110	2 SubmittersRCV002664133 RCV003155519
NM_000141.5(FGFR2):c.868T>A (p.Trp290Arg)	SNV Germline	Chr10:121520050	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378330675	rs_121918501	1 SubmittersRCV002796351
NM_000141.5(FGFR2):c.1066T>G (p.Trp356Gly)	SNV Germline	Chr10:121517337	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis Condition: not provided Crouzon syndrome	Criteria Provided Conflicting Classifications	CA378327672	rs_2134254562	3 SubmittersRCV003028849 RCV004593127 RCV005626726
NM_000141.5(FGFR2):c.1085C>A (p.Ala362Glu)	SNV Germline	Chr10:121515319	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA378327532	rs_757846343	2 SubmittersRCV002777101 RCV006449099
NM_000141.5(FGFR2):c.1646A>C (p.Asn549Thr)	SNV Germline	Chr10:121498521	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA378321431	rs_763017169	1 SubmittersRCV003159317
NM_000141.5(FGFR2):c.1988G>A (p.Gly663Glu)	SNV Germline	Chr10:121487423	Pathogenic	FGFR2-related craniosynostosis Pfeiffer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA378313388	rs_2133825396	2 SubmittersRCV003588491 RCV004698884
NM_000141.5(FGFR2):c.1084G>T (p.Ala362Ser)	SNV Germline	Chr10:121517319	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378327633	rs_2134253669	1 SubmittersRCV003588492
NM_000141.5(FGFR2):c.1083A>T (p.Pro361=)	SNV Germline	Chr10:121517320	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA2695212872	rs_2540045968	1 SubmittersRCV003588493
NM_000141.5(FGFR2):c.1693G>A (p.Glu565Lys)	SNV Germline	Chr10:121496702	Likely pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter	CA378320644	rs_2133944245	1 SubmittersRCV003754060
NM_000141.5(FGFR2):c.1029G>A (p.Leu343=)	SNV Germline	Chr10:121517374	Conflicting classifications of pathogenicity	11 conditions FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA214310117	rs_559688816	2 SubmittersRCV005047807 RCV003752996
NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu)	SNV Germline	Chr10:121517440	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis 11 conditions	Criteria Provided Conflicting Classifications	CA378328473	rs_1318903454	2 SubmittersRCV003831149 RCV005040545
NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)	SNV Germline	Chr10:121517460	Conflicting classifications of pathogenicity	Pfeiffer syndrome 11 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA5720886	rs_121918504	3 SubmittersRCV003988759 RCV005040620 RCV004794670
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)	SNV Germline	Chr10:121485494	Likely pathogenic	Pfeiffer syndrome	Criteria Provided Single Submitter	CA378312414	rs_2539419195	1 SubmittersRCV003989002
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe)	SNV Germline	Chr10:121515280	Conflicting classifications of pathogenicity	Pfeiffer syndrome 11 conditions Condition: not provided FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications	CA378327313	rs_121913478	4 SubmittersRCV004017205 RCV005038646 RCV006259554 RCV006564684
NM_000141.5(FGFR2):c.974A>T (p.Glu325Val)	SNV Germline	Chr10:121517429	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004798531
NM_000141.5(FGFR2):c.556A>G (p.Met186Val)	SNV Germline	Chr10:121551358	Conflicting classifications of pathogenicity	11 conditions FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications			2 SubmittersRCV005039412 RCV005112856
NM_000141.5(FGFR2):c.151G>A (p.Val51Met)	SNV Germline	Chr10:121565663	Conflicting classifications of pathogenicity	11 conditions Acrocephalosyndactyly type I	Criteria Provided Conflicting Classifications			2 SubmittersRCV005042965 RCV006454583
NM_000141.5(FGFR2):c.1212C>T (p.Thr404=)	SNV Germline	Chr10:121515192	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005062270 RCV006455956
NM_000141.5(FGFR2):c.551A>T (p.Asn184Ile)	SNV Germline	Chr10:121551363	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV005138559 RCV005435494 RCV005559867
NM_000141.5(FGFR2):c.1673-4A>G	SNV Germline	Chr10:121496726	Conflicting classifications of pathogenicity	FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005191394 RCV005643697
NM_000141.5(FGFR2):c.1019A>C (p.Tyr340Ser)	SNV Germline	Chr10:121517384	Likely pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter			1 SubmittersRCV005200838
NM_000141.5(FGFR2):c.940-3T>G	SNV Germline	Chr10:121517466	Pathogenic	FGFR2-related craniosynostosis	Criteria Provided Single Submitter			1 SubmittersRCV005200839
NM_000141.5(FGFR2):c.1287+1G>A	SNV Germline	Chr10:121515116	Likely pathogenic	Crouzon syndrome	No Assertion Criteria Provided			1 SubmittersRCV005414391
NM_000141.5(FGFR2):c.184T>C (p.Cys62Arg)	SNV Germline	Chr10:121565630	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005623667
NM_000141.5(FGFR2):c.1076T>C (p.Val359Ala)	SNV Germline	Chr10:121517327	Likely pathogenic	Crouzon syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005625085
NM_000141.5(FGFR2):c.1645A>G (p.Asn549Asp)	SNV Germline	Chr10:121498522	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005869114
NM_000141.5(FGFR2):c.940-2A>T	SNV Germline	Chr10:121517465	Pathogenic	Pfeiffer syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005882569
NM_000141.5(FGFR2):c.1018T>A (p.Tyr340Asn)	SNV Germline	Chr10:121517385	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006250566
NM_000141.5(FGFR2):c.992A>T (p.Asn331Ile)	SNV Germline	Chr10:121517411	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006256581
NM_000141.5(FGFR2):c.1022C>T (p.Thr341Met)	SNV Germline	Chr10:121517381	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006434622
NM_000141.5(FGFR2):c.1966T>C (p.Tyr656His)	SNV Germline	Chr10:121488011	Likely pathogenic	Acrocephalosyndactyly type I	Criteria Provided Single Submitter		rs_2133835239	1 SubmittersRCV006454927

NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)

SNV
Germline

Chr10:121517378

Pathogenic/Likely pathogenic

Crouzon syndrome
Pfeiffer syndrome
FGFR2-related craniosynostosis
11 conditions
Condition: not provided
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Craniosynostosis syndrome
11 conditions
Common craniosynostosis syndromes

Criteria Provided
Multiple Submitters
No Conflicts

CA280168

rs_121918487

19 SubmittersRCV000014173 RCV000014174 RCV000547490 RCV000762801 RCV001090933 RCV001196204 RCV001730471 RCV004795406 RCV006605188

NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)

SNV
Germline

Chr10:121517385

Pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
Condition: not provided
Common craniosynostosis syndromes

Criteria Provided
Multiple Submitters
No Conflicts

CA280169

rs_121918489

8 SubmittersRCV000014175 RCV001214882 RCV001723564 RCV006461159

NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)

SNV
Germline

Chr10:121517342

Pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
Inborn genetic diseases
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA280170

rs_121918490

9 SubmittersRCV000014176 RCV000655419 RCV000623131 RCV001565300 RCV002287333

NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)

SNV
Germline

Chr10:121517379

Pathogenic

Pfeiffer syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Crouzon syndrome
Jackson-Weiss syndrome
FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256745

rs_121918488

10 SubmittersRCV000014178 RCV000014180 RCV000014177 RCV000014179 RCV000534888 RCV001723565

NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)

SNV
Germline

Chr10:121517379

Pathogenic

Crouzon syndrome
Jackson-Weiss syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256746

rs_121918488

5 SubmittersRCV000014181 RCV000014182 RCV000014183 RCV000415484 RCV000490034 RCV000655416

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

SNV
Germline

Chr10:121517371

Pathogenic

SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
Crouzon syndrome
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
Craniosynostosis syndrome
FGFR2-related craniosynostosis
11 conditions
Condition: not provided
Acrocephalosyndactyly type I
FGFR2-related disorder
11 conditions
Common craniosynostosis syndromes
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122983

rs_121918491

15 SubmittersRCV000014186 RCV000014184 RCV000014185 RCV000192353 RCV000686210 RCV000762800 RCV001579726 RCV002247335 RCV002280092 RCV002482864 RCV005887496 RCV005887495

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

SNV
Germline

Chr10:121517372

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280171

rs_121918492

4 SubmittersRCV000014188 RCV000014187 RCV001851846 RCV003313919 RCV005249989

NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys)

SNV
Germline

Chr10:121517420

Pathogenic/Likely pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA280172

rs_121918493

4 SubmittersRCV000014189 RCV000798719 RCV004700231

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

SNV
Germline

Chr10:121517363

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280173

rs_121918494

9 SubmittersRCV000014190 RCV000726654 RCV000655421 RCV000626619 RCV001823713 RCV004813038

NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)

SNV
Germline/somatic

Chr10:121520163

Pathogenic

Acrocephalosyndactyly type I
Endometrial carcinoma
Condition: not provided
FGFR2-related craniosynostosis
11 conditions
FGFR2-related disorder
Pfeiffer syndrome
Inborn genetic diseases
Neoplasm
Liver cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA122985

rs_79184941

39 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000552015 RCV002476961 RCV004532334 RCV004527288 RCV005841520 RCV005229786 RCV006253543

NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)

SNV
Germline

Chr10:121520160

Pathogenic/Likely pathogenic

Acrocephalosyndactyly type I
Condition: not provided
FGFR2-related craniosynostosis
11 conditions
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
FGFR2-related disorder
Pfeiffer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA280174

rs_77543610

22 SubmittersRCV000014193 RCV000489611 RCV000532721 RCV000762803 RCV001197223 RCV004532335 RCV005859461

NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)

SNV
Germline

Chr10:121517382

Pathogenic

Pfeiffer syndrome
FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA280176

rs_121918495

7 SubmittersRCV000014194 RCV001037961 RCV001781263

NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp)

SNV
Germline

Chr10:121517377

Pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
Condition: not provided
Common craniosynostosis syndromes

Criteria Provided
Multiple Submitters
No Conflicts

CA280177

rs_121918496

5 SubmittersRCV000014195 RCV000535651 RCV001588812 RCV006272127

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

SNV
Germline

Chr10:121520052

Pathogenic

Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
FGFR2-related craniosynostosis
Condition: not provided
Inborn genetic diseases
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA280178

rs_121918497

9 SubmittersRCV000014196 RCV000014197 RCV000415509 RCV001217538 RCV001572560 RCV005831545 RCV005867753

NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)

SNV
Germline/somatic

Chr10:121515280

Pathogenic/Likely pathogenic

Beare-Stevenson cutis gyrata syndrome
Endometrial carcinoma
Condition: not provided
FGFR2-related craniosynostosis
11 conditions
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122987

rs_121913478

12 SubmittersRCV000014198 RCV000014199 RCV000224124 RCV000549100 RCV000762799 RCV004532336

NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys)

SNV
Germline

Chr10:121515289

Pathogenic

Beare-Stevenson cutis gyrata syndrome
FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA256747

rs_121913477

2 SubmittersRCV000014200 RCV001382546

NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)

SNV
Germline

Chr10:121520048

Pathogenic

Pfeiffer syndrome
Aural atresia, congenital
Condition: not provided
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA280182

rs_121918499

6 SubmittersRCV000014203 RCV002254264 RCV003150929 RCV004532337

NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu)

SNV
Germline

Chr10:121520044

Likely pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA280183

rs_121918500

2 SubmittersRCV000014204 RCV002513037

NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)

SNV
Germline

Chr10:121520050

Pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA280185

rs_121918501

7 SubmittersRCV000014205 RCV000537718 RCV001549469

NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly)

SNV
Germline

Chr10:121520050

Pathogenic

Crouzon syndrome
FGFR2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA280187

rs_121918501

4 SubmittersRCV000014206 RCV004724741 RCV005629900

NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)

SNV
Germline

Chr10:121517351

Pathogenic

Pfeiffer syndrome type 3
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Condition: not provided
Pfeiffer syndrome
FGFR2-related craniosynostosis
Crouzon syndrome
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122991

rs_121918502

11 SubmittersRCV000014208 RCV000014209 RCV000256107 RCV000415503 RCV000528973 RCV003313920 RCV004737152

NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)

SNV
Germline

Chr10:121517460

Pathogenic

CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
Crouzon syndrome
Condition: not provided
FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA122992

rs_121918504

7 SubmittersRCV000014212 RCV000856813 RCV001280733 RCV001851847 RCV002496355

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

SNV
Germline/somatic

Chr10:121520119

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA210548

rs_121918505

7 SubmittersRCV000014213 RCV000408850 RCV000435703 RCV000690962 RCV002508123

NM_000141.5(FGFR2):c.940-1G>A

SNV
Germline

Chr10:121517464

Pathogenic

Pfeiffer syndrome
FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA10575517

rs_879253719

2 SubmittersRCV000014215 RCV000694780

NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)

SNV
Germline

Chr10:121520048

Pathogenic

Pfeiffer syndrome
CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA
FGFR2-related craniosynostosis
Condition: not provided
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA122994

rs_121918499

10 SubmittersRCV000014217 RCV000014218 RCV000655418 RCV001268882 RCV002490362

NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)

SNV
Germline

Chr10:121496701

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280192

rs_121918506

7 SubmittersRCV000014219 RCV001851848 RCV003441716 RCV004532338

NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)

SNV
Germline

Chr10:121498591

Pathogenic/Likely pathogenic

Crouzon syndrome
Familial scaphocephaly syndrome, McGillivray type
Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA122996

rs_121918507

4 SubmittersRCV000014220 RCV000014221 RCV003988821 RCV004760330 RCV005089251

NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)

SNV
Germline

Chr10:121488035

Pathogenic

Levy-Hollister syndrome
Condition: not provided
FGFR2-related craniosynostosis
Familial scaphocephaly syndrome, McGillivray type
LADD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA122998

rs_121918508

6 SubmittersRCV000014222 RCV001291623 RCV002513038 RCV004767007 RCV006451761

NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr)

SNV
Germline

Chr10:121488095

Pathogenic

Condition: not provided
LADD syndrome 1

Criteria Provided
Single Submitter

CA123000

rs_121918509

2 SubmittersRCV000414415 RCV006451763

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

SNV
Germline

Chr10:121517316

Pathogenic

Pfeiffer syndrome
Crouzon syndrome
FGFR2-related craniosynostosis
Acrocephalosyndactyly type I
Pfeiffer syndrome
Crouzon syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10575520

rs_879253721

5 SubmittersRCV000014225 RCV000014226 RCV001382547 RCV001254178 RCV002273930

NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)

SNV
Germline

Chr10:121517441

Pathogenic

Pfeiffer syndrome
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA280195

rs_121918510

3 SubmittersRCV000014227 RCV002513039

NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro)

SNV
Germline

Chr10:121517394

Pathogenic/Likely pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA280240

rs_387906676

4 SubmittersRCV000022732 RCV002513173 RCV005241334

NM_000141.5(FGFR2):c.1172T>G (p.Met391Arg)

SNV
Germline

Chr10:121515232

Pathogenic

Bent bone dysplasia syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA128693

rs_387906677

2 SubmittersRCV000022734 RCV000493423

NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)

SNV
Germline

Chr10:121515263

Pathogenic

Bent bone dysplasia syndrome 1
Inborn genetic diseases
Condition: not provided
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA128695

rs_387906678

6 SubmittersRCV000022735 RCV000190765 RCV000725446 RCV004528130

NM_000141.5(FGFR2):c.34G>A (p.Val12Met)

SNV
Germline

Chr10:121593784

Conflicting classifications of pathogenicity

not specified
Condition: not provided
FGFR2-related craniosynostosis
FGFR2-related disorder
11 conditions

Criteria Provided
Conflicting Classifications

CA159665

rs_143978938

8 SubmittersRCV000121061 RCV000432180 RCV002055337 RCV004542874 RCV005394416

NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)

SNV
Germline

Chr10:121593795

Conflicting classifications of pathogenicity

not specified
Condition: not provided
FGFR2-related craniosynostosis
Isolated Coronal Synostosis
Saethre-Chotzen syndrome
Craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
Crouzon syndrome
FGFR2-related disorder

Criteria Provided
Conflicting Classifications

CA159667

rs_147307031

7 SubmittersRCV000121062 RCV000756160 RCV001078866 RCV001103882 RCV001103883 RCV001103884 RCV001107510 RCV001107511 RCV004530000

NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=)

SNV
Germline

Chr10:121487371

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA240424

rs_751495618

2 SubmittersRCV000174827 RCV002516646

NM_000141.5(FGFR2):c.2106G>A (p.Ser702=)

SNV
Germline

Chr10:121485484

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA240641

rs_794727163

2 SubmittersRCV000174990 RCV005089879

NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)

SNV
Germline

Chr10:121520085

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5720987

rs_776587763

9 SubmittersRCV000255197 RCV000415498 RCV000557313 RCV000844883 RCV004737395

NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr10:121551346

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA5721097

rs_147987917

3 SubmittersRCV000306598 RCV003753111

NM_000141.5(FGFR2):c.*111G>A

SNV
Germline

Chr10:121479746

Conflicting classifications of pathogenicity

Craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
Crouzon syndrome
Saethre-Chotzen syndrome
Isolated Coronal Synostosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628108

rs_574474794

2 SubmittersRCV000273494 RCV000285345 RCV000325142 RCV000364461 RCV000382095 RCV003391059

NM_000141.5(FGFR2):c.-135C>T

SNV
Germline

Chr10:121593952

Conflicting classifications of pathogenicity

Crouzon syndrome
Beare-Stevenson cutis gyrata syndrome
Craniosynostosis syndrome
Isolated Coronal Synostosis
Saethre-Chotzen syndrome

Criteria Provided
Conflicting Classifications

CA10628114

rs_554557891

1 SubmittersRCV000266910 RCV000273663 RCV000355593 RCV000376851 RCV000380311

NM_000141.5(FGFR2):c.1562-11A>G

SNV
Germline

Chr10:121498616

Conflicting classifications of pathogenicity

Crouzon syndrome
Isolated Coronal Synostosis
Beare-Stevenson cutis gyrata syndrome
Craniosynostosis syndrome
Saethre-Chotzen syndrome
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA5720700

rs_41293744

2 SubmittersRCV000279290 RCV000314648 RCV000334405 RCV000342883 RCV000403467 RCV005090434

NM_000141.5(FGFR2):c.1539C>A (p.Thr513=)

SNV
Germline

Chr10:121500848

Conflicting classifications of pathogenicity

Isolated Coronal Synostosis
Craniosynostosis syndrome
Crouzon syndrome
Saethre-Chotzen syndrome
Beare-Stevenson cutis gyrata syndrome
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA10631081

rs_74160617

2 SubmittersRCV000279093 RCV000320169 RCV000294423 RCV000349333 RCV000404985 RCV006629128

NM_000141.5(FGFR2):c.625-10A>G

SNV
Germline

Chr10:121538725

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome
Isolated Coronal Synostosis
Crouzon syndrome
Saethre-Chotzen syndrome
Craniosynostosis syndrome
not specified
FGFR2-related craniosynostosis
FGFR2-related disorder

Criteria Provided
Conflicting Classifications

CA5721075

rs_201512833

4 SubmittersRCV000294102 RCV000288101 RCV000345434 RCV000386009 RCV000405259 RCV001820865 RCV002059526 RCV004544501

NM_000141.5(FGFR2):c.*674G>T

SNV
Germline

Chr10:121479183

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome
Isolated Coronal Synostosis
Crouzon syndrome
Craniosynostosis syndrome
Saethre-Chotzen syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634793

rs_566155088

2 SubmittersRCV000263242 RCV000292614 RCV000318442 RCV000354604 RCV000383383 RCV003391058

NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys)

SNV
Germline

Chr10:121496621

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome
Saethre-Chotzen syndrome
Craniosynostosis syndrome
Crouzon syndrome
Isolated Coronal Synostosis
FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Conflicting Classifications

CA5720652

rs_141929882

3 SubmittersRCV000305351 RCV000340231 RCV000341569 RCV000357145 RCV000396197 RCV001859778 RCV005033858

NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)

SNV
Germline

Chr10:121479907

Conflicting classifications of pathogenicity

Craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
Crouzon syndrome
Saethre-Chotzen syndrome
Isolated Coronal Synostosis
Condition: not provided
FGFR2-related craniosynostosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5720449

rs_764959117

4 SubmittersRCV000284236 RCV000311542 RCV000324015 RCV000336994 RCV000376381 RCV001753763 RCV003753112 RCV006342218

NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)

SNV
Germline

Chr10:121515165

Conflicting classifications of pathogenicity

Crouzon syndrome
Isolated Coronal Synostosis
Beare-Stevenson cutis gyrata syndrome
Saethre-Chotzen syndrome
Craniosynostosis syndrome
FGFR2-related craniosynostosis
FGFR2-related disorder

Criteria Provided
Conflicting Classifications

CA5720812

rs_147674677

3 SubmittersRCV000305286 RCV000308682 RCV000317604 RCV000360045 RCV000402531 RCV002059523 RCV004544500

NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)

SNV
Germline

Chr10:121488055

Pathogenic/Likely pathogenic

Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16043905

rs_1057519047

4 SubmittersRCV000415480 RCV000731782 RCV006462605

NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)

SNV
Germline

Chr10:121496701

Pathogenic/Likely pathogenic

Pfeiffer syndrome
Condition: not provided
FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16043906

rs_121918506

5 SubmittersRCV000415495 RCV001549391 RCV001865307 RCV002488862

NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)

SNV
Germline/somatic

Chr10:121498522

Pathogenic/Likely pathogenic

Crouzon syndrome
Pemigatinib resistance
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16043908

rs_1057519045

3 SubmittersRCV000415507 RCV000786040 RCV006462604

NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe)

SNV
Germline

Chr10:121517378

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043909

rs_121918487

3 SubmittersRCV000415490 RCV000815502 RCV004701459

NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)

SNV
Germline

Chr10:121517378

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10575447

rs_121918487

12 SubmittersRCV000415499 RCV000560038 RCV000856727 RCV001729573 RCV003155177 RCV004737463 RCV006268764

NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)

SNV
Germline

Chr10:121517379

Pathogenic

Pfeiffer syndrome
FGFR2-related syndromic and non-syndromic craniosynostoses
Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16043910

rs_121918488

4 SubmittersRCV000415501 RCV001270790 RCV001591054 RCV001861462

NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)

SNV
Germline

Chr10:121517390

Pathogenic/Likely pathogenic

Crouzon syndrome
11 conditions
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16043911

rs_1057519044

3 SubmittersRCV000415513 RCV000762802 RCV001377881

NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg)

SNV
Germline

Chr10:121517391

Pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16043912

rs_1057519043

3 SubmittersRCV000415494 RCV001381651

NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)

SNV
Germline

Chr10:121517396

Pathogenic/Likely pathogenic

Crouzon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16043913

rs_1057519042

2 SubmittersRCV000415483

NM_000141.5(FGFR2):c.940-2A>G

SNV
Germline

Chr10:121517465

Conflicting classifications of pathogenicity

Pfeiffer syndrome
FGFR2-related craniosynostosis
Condition: not provided
11 conditions

Criteria Provided
Conflicting Classifications

CA16043914

rs_1057519041

6 SubmittersRCV000415479 RCV000558628 RCV001559997 RCV004796173

NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys)

SNV
Germline

Chr10:121519995

Pathogenic/Likely pathogenic

Crouzon syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043915

rs_1057519040

2 SubmittersRCV000415502 RCV005621943

NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser)

SNV
Germline

Chr10:121520049

Pathogenic

Crouzon syndrome

Criteria Provided
Single Submitter

CA16043916

rs_1057519039

1 SubmittersRCV000415506

NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)

SNV
Germline

Chr10:121520076

Likely pathogenic

Crouzon syndrome
Condition: not provided
FGFR2-related craniosynostosis
FGFR2-related disorder
Common craniosynostosis syndromes

Criteria Provided
Multiple Submitters
No Conflicts

CA16043917

rs_1057519038

5 SubmittersRCV000415488 RCV001547058 RCV002524678 RCV004544729 RCV006443341

NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)

SNV
Germline

Chr10:121520092

Pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043919

rs_1057519036

6 SubmittersRCV000415486 RCV000655413 RCV001723974

NM_000141.5(FGFR2):c.138A>C (p.Gln46His)

SNV
Germline

Chr10:121565676

Conflicting classifications of pathogenicity

Craniosynostosis, nonspecific
FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Conflicting Classifications

CA5721212

rs_748117555

3 SubmittersRCV000415491 RCV001861461 RCV002481290

NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His)

SNV
Germline

Chr10:121515263

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16602762

rs_387906678

1 SubmittersRCV003229832

NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)

SNV
Germline/somatic

Chr10:121515260

Pathogenic/Likely pathogenic

Condition: not provided
Beare-Stevenson cutis gyrata syndrome
Adenoid cystic carcinoma
Neoplasm
Sialoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16602866

rs_121913474

6 SubmittersRCV003322768 RCV005603622 RCV004813093 RCV006273731 RCV006254007

NM_000141.5(FGFR2):c.1925T>A (p.Ile642Lys)

SNV
Germline

Chr10:121488052

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16618938

rs_1064796413

1 SubmittersRCV000478596

NM_000141.5(FGFR2):c.1142A>G (p.Tyr381Cys)

SNV
Germline

Chr10:121515262

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16618939

rs_1064796452

1 SubmittersRCV000482209

NM_000141.5(FGFR2):c.1019A>G (p.Tyr340Cys)

SNV
Germline

Chr10:121517384

Pathogenic

Condition: not provided
FGFR2-related craniosynostosis
Pfeiffer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA378328024

rs_1554928884

7 SubmittersRCV000523700 RCV001232531 RCV004796222

NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)

SNV
Germline

Chr10:121565500

Pathogenic/Likely pathogenic

Condition: not provided
FGFR2-related craniosynostosis
11 conditions
Bent bone dysplasia syndrome 1
Crouzon syndrome
Inborn genetic diseases
Acrocephalosyndactyly type I

Criteria Provided
Multiple Submitters
No Conflicts

CA378324800

rs_1434545235

12 SubmittersRCV000522502 RCV000531359 RCV000762805 RCV002291280 RCV003128407 RCV004975610 RCV005603635

NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)

SNV
Germline

Chr10:121515254

Pathogenic

FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA378327226

rs_1554927408

2 SubmittersRCV000525216 RCV000762798

NM_000141.5(FGFR2):c.940G>T (p.Ala314Ser)

SNV
Germline

Chr10:121517463

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA378328613

rs_1358919643

2 SubmittersRCV000534665 RCV001755916

NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)

SNV
Germline

Chr10:121565525

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis
FGFR2-realated disorder
11 conditions
FGFR2-related disorder

Criteria Provided
Conflicting Classifications

CA5721181

rs_372430349

5 SubmittersRCV000592272 RCV001302577 RCV002245031 RCV002483578 RCV004737855

NM_000141.5(FGFR2):c.1086G>C (p.Ala362=)

SNV
Germline

Chr10:121515318

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA471652693

rs_151250769

2 SubmittersRCV000592421 RCV002065159

NM_000141.5(FGFR2):c.759T>G (p.Pro253=)

SNV
Germline

Chr10:121520159

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA5721004

rs_3135755

4 SubmittersRCV000594519 RCV001085609

NM_000141.5(FGFR2):c.2124C>T (p.Pro708=)

SNV
Germline

Chr10:121485466

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA5720549

rs_140813163

2 SubmittersRCV000595612 RCV002062091

NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)

SNV
Germline

Chr10:121485400

Conflicting classifications of pathogenicity

Craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
Saethre-Chotzen syndrome
Isolated Coronal Synostosis
Crouzon syndrome
Condition: not provided
FGFR2-related craniosynostosis
FGFR2-related disorder

Criteria Provided
Conflicting Classifications

CA5720545

rs_55637244

5 SubmittersRCV001108507 RCV001108506 RCV001106281 RCV001106282 RCV001108505 RCV001698024 RCV002065445 RCV004530809

NM_000141.5(FGFR2):c.1991G>A (p.Arg664Gln)

SNV
Germline

Chr10:121487420

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA378313384

rs_1554907364

1 SubmittersRCV000624844

NM_000141.5(FGFR2):c.1012G>T (p.Gly338Trp)

SNV
Germline

Chr10:121517391

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378328091

rs_1057519043

1 SubmittersRCV000655417

NM_000141.5(FGFR2):c.834C>G (p.Cys278Trp)

SNV
Germline

Chr10:121520084

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378330887

rs_1554930790

1 SubmittersRCV000655420

NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val)

SNV
Germline

Chr10:121487390

Likely pathogenic

Levy-Hollister syndrome

Criteria Provided
Single Submitter

CA378313216

rs_1554907337

1 SubmittersRCV000659649

NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)

SNV
Germline

Chr10:121500910

Likely pathogenic

Levy-Hollister syndrome

Criteria Provided
Single Submitter

CA378323223

rs_1554917471

1 SubmittersRCV000659648

NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)

SNV
Germline

Chr10:121520163

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5721006

rs_79184941

9 SubmittersRCV000664049 RCV001313539 RCV002298724 RCV004527721 RCV003987651

NM_000141.5(FGFR2):c.1717C>T (p.Arg573Ter)

SNV
Germline

Chr10:121496678

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA378320514

rs_1564875577

1 SubmittersRCV000681721

NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)

SNV
Germline

Chr10:121520106

Pathogenic/Likely pathogenic

FGFR2-related craniosynostosis
Crouzon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA378330949

rs_1564919048

3 SubmittersRCV000695392 RCV000856806

NM_000141.5(FGFR2):c.1012G>A (p.Gly338Arg)

SNV
Germline/somatic

Chr10:121517391

Pathogenic

FGFR2-related craniosynostosis
Neoplasm

Criteria Provided
Single Submitter

CA378328094

rs_1057519043

2 SubmittersRCV000695897 RCV006273996

NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)

SNV
Germline

Chr10:121517414

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
11 conditions
Craniosynostosis syndrome
Condition: not provided
Crouzon syndrome
Isolated Coronal Synostosis
Saethre-Chotzen syndrome
Beare-Stevenson cutis gyrata syndrome
11 conditions
not specified

Criteria Provided
Conflicting Classifications

CA5720881

rs_199757302

5 SubmittersRCV000700533 RCV000763646 RCV001108748 RCV001536168 RCV001106572 RCV001106573 RCV001106574 RCV001108749 RCV005034316 RCV006459835

NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn)

SNV
Germline

Chr10:121488000

Pathogenic

FGFR2-related craniosynostosis
Condition: not provided
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA378314117

rs_1589722765

3 SubmittersRCV000818805 RCV001805896 RCV004528313

NM_000141.5(FGFR2):c.780C>T (p.Ala260=)

SNV
Germline

Chr10:121520138

Conflicting classifications of pathogenicity

Saethre-Chotzen syndrome
Craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
Isolated Coronal Synostosis
Crouzon syndrome
FGFR2-related craniosynostosis
FGFR2-related disorder

Criteria Provided
Conflicting Classifications

CA5721001

rs_778288494

3 SubmittersRCV001103587 RCV001103588 RCV001103589 RCV001103586 RCV001105524 RCV001462126 RCV004533655

NM_000141.5(FGFR2):c.714G>A (p.Gly238=)

SNV
Germline

Chr10:121538626

Conflicting classifications of pathogenicity

Condition: not provided
Craniosynostosis syndrome
Saethre-Chotzen syndrome
Crouzon syndrome
Isolated Coronal Synostosis
Beare-Stevenson cutis gyrata syndrome

Criteria Provided
Conflicting Classifications

CA471656477

rs_1276387170

2 SubmittersRCV000903031 RCV001106677 RCV001106679 RCV001105530 RCV001105531 RCV001106678

NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val)

SNV
Germline

Chr10:121500843

Pathogenic

Levy-Hollister syndrome

No Assertion Criteria Provided

CA378322753

rs_1847510893

1 SubmittersRCV001250712

NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)

SNV
Germline

Chr10:121520160

Conflicting classifications of pathogenicity

Acrocephalosyndactyly type I
FGFR2-related craniosynostosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA378331057

rs_77543610

3 SubmittersRCV001029732 RCV001228029 RCV001266231

NM_000141.5(FGFR2):c.2032A>G (p.Arg678Gly)

SNV
Germline

Chr10:121487379

Pathogenic/Likely pathogenic

FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA378313172

rs_1845559552

2 SubmittersRCV001035610 RCV001593194

NM_000141.5(FGFR2):c.863T>A (p.Ile288Asn)

SNV
Germline

Chr10:121520055

Pathogenic/Likely pathogenic

FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA378330706

rs_1850289942

2 SubmittersRCV001049467 RCV006279320

NM_000141.5(FGFR2):c.764G>A (p.Arg255Gln)

SNV
Unknown

Chr10:121520154

Likely pathogenic

Ectrodactyly

Criteria Provided
Single Submitter

CA378331047

rs_1850314485

1 SubmittersRCV001089549

NM_000141.5(FGFR2):c.833G>A (p.Cys278Tyr)

SNV
Germline

Chr10:121520085

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA378330894

rs_776587763

1 SubmittersRCV001091416

NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)

SNV
Germline

Chr10:121498605

Conflicting classifications of pathogenicity

Craniosynostosis syndrome
Saethre-Chotzen syndrome
Beare-Stevenson cutis gyrata syndrome
Isolated Coronal Synostosis
Crouzon syndrome
FGFR2-related craniosynostosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5720695

rs_55689343

3 SubmittersRCV001108582 RCV001108584 RCV001108581 RCV001108583 RCV001108585 RCV001856447 RCV005841702

NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu)

SNV
Germline

Chr10:121515191

Conflicting classifications of pathogenicity

Isolated Coronal Synostosis
Saethre-Chotzen syndrome
Craniosynostosis syndrome
Crouzon syndrome
Beare-Stevenson cutis gyrata syndrome
11 conditions

Criteria Provided
Conflicting Classifications

CA5720815

rs_772986332

2 SubmittersRCV001103506 RCV001108662 RCV001108663 RCV001108664 RCV001108665 RCV005036405

NM_000141.5(FGFR2):c.1167C>G (p.Ala389=)

SNV
Germline

Chr10:121515237

Conflicting classifications of pathogenicity

Craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
Crouzon syndrome
Saethre-Chotzen syndrome
Isolated Coronal Synostosis
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA5720825

rs_757648006

2 SubmittersRCV001103507 RCV001103508 RCV001105426 RCV001105427 RCV001105428 RCV006465370

NM_000141.5(FGFR2):c.201C>T (p.Ala67=)

SNV
Germline

Chr10:121565613

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome
Crouzon syndrome
Saethre-Chotzen syndrome
Craniosynostosis syndrome
Isolated Coronal Synostosis
FGFR2-related craniosynostosis
FGFR2-related disorder

Criteria Provided
Conflicting Classifications

CA5721200

rs_200386134

3 SubmittersRCV001103786 RCV001103785 RCV001103782 RCV001103783 RCV001103784 RCV002069722 RCV004536157

NM_000141.5(FGFR2):c.33C>T (p.Val11=)

SNV
Germline

Chr10:121593785

Conflicting classifications of pathogenicity

Crouzon syndrome
Craniosynostosis syndrome
Saethre-Chotzen syndrome
Isolated Coronal Synostosis
Beare-Stevenson cutis gyrata syndrome
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA5721250

rs_200562301

2 SubmittersRCV001107506 RCV001107505 RCV001107507 RCV001107508 RCV001107509 RCV002555051

NM_000141.5(FGFR2):c.-626C>A

SNV
Germline

Chr10:121598437

Conflicting classifications of pathogenicity

Beare-Stevenson cutis gyrata syndrome
Saethre-Chotzen syndrome
Isolated Coronal Synostosis
Craniosynostosis syndrome
Crouzon syndrome

Criteria Provided
Conflicting Classifications

CA214327357

rs_549524538

1 SubmittersRCV001102648 RCV001102646 RCV001104559 RCV001104560 RCV001102647

NM_000141.5(FGFR2):c.1075G>T (p.Val359Phe)

SNV
Germline

Chr10:121517328

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378327652

rs_1274989878

1 SubmittersRCV001224644

NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)

SNV
Germline

Chr10:121593802

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
11 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5721255

rs_141724446

3 SubmittersRCV001296997 RCV002499543 RCV002538478

NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)

SNV
Germline

Chr10:121503881

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
Condition: not provided
Inborn genetic diseases
11 conditions

Criteria Provided
Conflicting Classifications

CA5720768

rs_536181987

4 SubmittersRCV001360671 RCV001576683 RCV004978409 RCV005005207

NM_000141.5(FGFR2):c.962A>T (p.Asp321Val)

SNV
Germline

Chr10:121517441

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378328475

rs_121918510

1 SubmittersRCV001370090

NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe)

SNV
Germline

Chr10:121517342

Pathogenic

FGFR2-related craniosynostosis
Acrocephalosyndactyly type I

Criteria Provided
Multiple Submitters
No Conflicts

CA378327681

rs_121918490

2 SubmittersRCV001377880 RCV002246353

NM_000141.5(FGFR2):c.1030G>C (p.Ala344Pro)

SNV
Germline

Chr10:121517373

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378327927

rs_2134256250

1 SubmittersRCV001390280

NM_000141.5(FGFR2):c.1561+10G>C

SNV
Germline

Chr10:121500816

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
Levy-Hollister syndrome

Criteria Provided
Conflicting Classifications

CA5720712

rs_758605716

2 SubmittersRCV001408322 RCV004809587

NM_000141.5(FGFR2):c.2053G>T (p.Asp685Tyr)

SNV
Germline

Chr10:121487358

Likely pathogenic

Bilateral sensorineural hearing impairment

Criteria Provided
Single Submitter

CA378313044

rs_2133823028

1 SubmittersRCV001730847

NM_000141.5(FGFR2):c.1382C>T (p.Ala461Val)

SNV
Germline

Chr10:121503847

Conflicting classifications of pathogenicity

Condition: not provided
FGFR2-related craniosynostosis
not specified

Criteria Provided
Conflicting Classifications

CA5720759

rs_376451171

4 SubmittersRCV001757571 RCV003588763 RCV005437345

NM_000141.5(FGFR2):c.940-1G>T

SNV
Germline

Chr10:121517464

Pathogenic

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA378328624

rs_879253719

2 SubmittersRCV001783274 RCV002034562

NM_000141.5(FGFR2):c.1084+1G>T

SNV
Germline

Chr10:121517318

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA378327630

rs_2134253609

1 SubmittersRCV001816093

NM_000141.5(FGFR2):c.958A>G (p.Thr320Ala)

SNV
Germline

Chr10:121517445

Pathogenic

FGFR2-related craniosynostosis
Condition: not provided
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA378328495

rs_2134260022

3 SubmittersRCV001864146 RCV003238873 RCV004728861

NM_000141.5(FGFR2):c.869G>T (p.Trp290Leu)

SNV
Germline

Chr10:121520049

Likely pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378330665

rs_1057519039

1 SubmittersRCV001864147

NM_000141.5(FGFR2):c.287G>T (p.Gly96Val)

SNV
Germline

Chr10:121565527

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Conflicting Classifications

CA378324892

rs_1277734487

2 SubmittersRCV002022822 RCV005032097

NM_000141.5(FGFR2):c.1070T>C (p.Leu357Ser)

SNV
Germline

Chr10:121517333

Pathogenic

FGFR2-related craniosynostosis
FGFR2-related disorder

Criteria Provided
Single Submitter

CA378327662

rs_2134254345

2 SubmittersRCV001915790 RCV004538607

NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)

SNV
Germline

Chr10:121479897

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Conflicting Classifications

CA5720447

rs_368003279

2 SubmittersRCV001945440 RCV002503589

NM_000141.5(FGFR2):c.940-2A>C

SNV
Germline

Chr10:121517465

Pathogenic

Acrocephalosyndactyly type I
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA378328632

rs_1057519041

2 SubmittersRCV002249988 RCV003753216

NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn)

SNV
Germline

Chr10:121488000

Pathogenic

Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA378314114

rs_1589722765

2 SubmittersRCV002269634 RCV003101535

NM_000141.5(FGFR2):c.1600G>A (p.Glu534Lys)

SNV
Germline

Chr10:121498567

Likely pathogenic

Levy-Hollister syndrome

No Assertion Criteria Provided

CA378321623

rs_2133975330

1 SubmittersRCV002291169

NM_000141.5(FGFR2):c.1084+2T>C

SNV
Germline

Chr10:121517317

Pathogenic

FGFR2-related craniosynostosis
Pfeiffer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA378327628

rs_2134253566

2 SubmittersRCV003058266 RCV005002018

NM_000141.5(FGFR2):c.1084+1G>A

SNV
Germline

Chr10:121517318

Pathogenic

FGFR2-related craniosynostosis
FGFR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA378327631

rs_2134253609

2 SubmittersRCV003062302 RCV004529197

NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln)

SNV
Germline

Chr10:121515130

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
Autosomal dominant syndrome including deafness

Criteria Provided
Conflicting Classifications

CA214305230

rs_998662110

2 SubmittersRCV002664133 RCV003155519

NM_000141.5(FGFR2):c.868T>A (p.Trp290Arg)

SNV
Germline

Chr10:121520050

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378330675

rs_121918501

1 SubmittersRCV002796351

NM_000141.5(FGFR2):c.1066T>G (p.Trp356Gly)

SNV
Germline

Chr10:121517337

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
Condition: not provided
Crouzon syndrome

Criteria Provided
Conflicting Classifications

CA378327672

rs_2134254562

3 SubmittersRCV003028849 RCV004593127 RCV005626726

NM_000141.5(FGFR2):c.1085C>A (p.Ala362Glu)

SNV
Germline

Chr10:121515319

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA378327532

rs_757846343

2 SubmittersRCV002777101 RCV006449099

NM_000141.5(FGFR2):c.1646A>C (p.Asn549Thr)

SNV
Germline

Chr10:121498521

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA378321431

rs_763017169

1 SubmittersRCV003159317

NM_000141.5(FGFR2):c.1988G>A (p.Gly663Glu)

SNV
Germline

Chr10:121487423

Pathogenic

FGFR2-related craniosynostosis
Pfeiffer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA378313388

rs_2133825396

2 SubmittersRCV003588491 RCV004698884

NM_000141.5(FGFR2):c.1084G>T (p.Ala362Ser)

SNV
Germline

Chr10:121517319

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378327633

rs_2134253669

1 SubmittersRCV003588492

NM_000141.5(FGFR2):c.1083A>T (p.Pro361=)

SNV
Germline

Chr10:121517320

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA2695212872

rs_2540045968

1 SubmittersRCV003588493

NM_000141.5(FGFR2):c.1693G>A (p.Glu565Lys)

SNV
Germline

Chr10:121496702

Likely pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

CA378320644

rs_2133944245

1 SubmittersRCV003754060

NM_000141.5(FGFR2):c.1029G>A (p.Leu343=)

SNV
Germline

Chr10:121517374

Conflicting classifications of pathogenicity

11 conditions
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA214310117

rs_559688816

2 SubmittersRCV005047807 RCV003752996

NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu)

SNV
Germline

Chr10:121517440

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
11 conditions

Criteria Provided
Conflicting Classifications

CA378328473

rs_1318903454

2 SubmittersRCV003831149 RCV005040545

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

SNV
Germline

Chr10:121517460

Conflicting classifications of pathogenicity

Pfeiffer syndrome
11 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5720886

rs_121918504

3 SubmittersRCV003988759 RCV005040620 RCV004794670

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

SNV
Germline

Chr10:121485494

Likely pathogenic

Pfeiffer syndrome

Criteria Provided
Single Submitter

CA378312414

rs_2539419195

1 SubmittersRCV003989002

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

SNV
Germline

Chr10:121515280

Conflicting classifications of pathogenicity

Pfeiffer syndrome
11 conditions
Condition: not provided
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

CA378327313

rs_121913478

4 SubmittersRCV004017205 RCV005038646 RCV006259554 RCV006564684

NM_000141.5(FGFR2):c.974A>T (p.Glu325Val)

SNV
Germline

Chr10:121517429

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004798531

NM_000141.5(FGFR2):c.556A>G (p.Met186Val)

SNV
Germline

Chr10:121551358

Conflicting classifications of pathogenicity

11 conditions
FGFR2-related craniosynostosis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005039412 RCV005112856

NM_000141.5(FGFR2):c.151G>A (p.Val51Met)

SNV
Germline

Chr10:121565663

Conflicting classifications of pathogenicity

11 conditions
Acrocephalosyndactyly type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005042965 RCV006454583

NM_000141.5(FGFR2):c.1212C>T (p.Thr404=)

SNV
Germline

Chr10:121515192

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005062270 RCV006455956

NM_000141.5(FGFR2):c.551A>T (p.Asn184Ile)

SNV
Germline

Chr10:121551363

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005138559 RCV005435494 RCV005559867

NM_000141.5(FGFR2):c.1673-4A>G

SNV
Germline

Chr10:121496726

Conflicting classifications of pathogenicity

FGFR2-related craniosynostosis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005191394 RCV005643697

NM_000141.5(FGFR2):c.1019A>C (p.Tyr340Ser)

SNV
Germline

Chr10:121517384

Likely pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

1 SubmittersRCV005200838

NM_000141.5(FGFR2):c.940-3T>G

SNV
Germline

Chr10:121517466

Pathogenic

FGFR2-related craniosynostosis

Criteria Provided
Single Submitter

1 SubmittersRCV005200839

NM_000141.5(FGFR2):c.1287+1G>A

SNV
Germline

Chr10:121515116

Likely pathogenic

Crouzon syndrome

No Assertion Criteria Provided

1 SubmittersRCV005414391

NM_000141.5(FGFR2):c.184T>C (p.Cys62Arg)

SNV
Germline

Chr10:121565630

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005623667

NM_000141.5(FGFR2):c.1076T>C (p.Val359Ala)

SNV
Germline

Chr10:121517327

Likely pathogenic

Crouzon syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005625085

NM_000141.5(FGFR2):c.1645A>G (p.Asn549Asp)

SNV
Germline

Chr10:121498522

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005869114

NM_000141.5(FGFR2):c.940-2A>T

SNV
Germline

Chr10:121517465

Pathogenic

Pfeiffer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005882569

NM_000141.5(FGFR2):c.1018T>A (p.Tyr340Asn)

SNV
Germline

Chr10:121517385

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006250566

NM_000141.5(FGFR2):c.992A>T (p.Asn331Ile)

SNV
Germline

Chr10:121517411

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006256581

NM_000141.5(FGFR2):c.1022C>T (p.Thr341Met)

SNV
Germline

Chr10:121517381

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006434622

NM_000141.5(FGFR2):c.1966T>C (p.Tyr656His)

SNV
Germline

Chr10:121488011

Likely pathogenic

Acrocephalosyndactyly type I

Criteria Provided
Single Submitter

rs_2133835239

1 SubmittersRCV006454927