Total 12 pathogenic variants reported for Acrocephalosyndactyly

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.1032G>A (p.Ala344=)	SNV Germline	Chr10:121517371	Pathogenic	Crouzon syndrome Craniosynostosis, nonclassifiable autosomal dominant Scaphocephaly and axenfeld-rieger anomaly Craniosynostosis syndrome 11 conditions FGFR2-related craniosynostosis Acrocephalosyndactyly type I Condition: not provided FGFR2-related disorder 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA122983	rs_121918491	12 SubmittersRCV000014184 RCV000014185 RCV000014186 RCV000192353 RCV000762800 RCV000686210 RCV002247335 RCV001579726 RCV002280092 RCV002482864
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 Pfeiffer syndrome FGFR2-related disorder 11 conditions Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA122985	rs_79184941	35 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000552015 RCV002476961 RCV004527288 RCV004532334 RCV004795407 RCV005229786
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	Criteria Provided Multiple Submitters No Conflicts	CA280174	rs_77543610	20 SubmittersRCV000014193 RCV000489611 RCV000532721 RCV000762803 RCV001197223 RCV004532335
NM_000141.5(FGFR2):c.1084+3A>G	SNV Germline	Chr10:121517316	Pathogenic	Pfeiffer syndrome Crouzon syndrome Condition: not provided FGFR2-related craniosynostosis Acrocephalosyndactyly type I Pfeiffer syndrome Crouzon syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10575520	rs_879253721	5 SubmittersRCV000014225 RCV000014226 RCV002273930 RCV001382547 RCV001254178
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	11 SubmittersRCV000522502 RCV000531359 RCV000762805 RCV002291280 RCV003128407 RCV004975610 RCV005603635
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.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.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