Total 11 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 FGFR2-related craniosynostosis 11 conditions Condition: not provided 11 conditions Acrocephalosyndactyly type I Pfeiffer syndrome FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122983	rs_121918491	12 SubmittersRCV000014184 RCV000014185 RCV000014186 RCV000192353 RCV000686210 RCV000762800 RCV001579726 RCV002482864 RCV002247335 RCV002250460 RCV002280092
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	SNV Germline/somatic	Chr10:121520163	Pathogenic	Acrocephalosyndactyly type I Endometrial carcinoma Condition: not provided Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Acrocephalosyndactyly Malignant neoplasm of body of uterus Uterine carcinosarcoma Endometrium neoplasm Gastric adenocarcinoma FGFR2-related craniosynostosis 11 conditions Pfeiffer syndrome FGFR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122985	rs_79184941	31 SubmittersRCV000014191 RCV000014192 RCV000263144 RCV000431027 RCV000433942 RCV000422979 RCV000433250 RCV000438603 RCV000440715 RCV000552015 RCV002476961 RCV004527288 RCV004532334
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	SNV Germline/somatic	Chr10:121520160	Pathogenic/Likely pathogenic	Acrocephalosyndactyly type I Head and neck neoplasm FGFR2-related craniosynostosis Condition: not provided 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 RCV000436870 RCV000532721 RCV000489611 RCV000762803 RCV001197223 RCV004532335
NM_000141.5(FGFR2):c.1084+3A>G	SNV Germline	Chr10:121517316	Pathogenic	Pfeiffer syndrome Crouzon syndrome Pfeiffer syndrome Crouzon syndrome Acrocephalosyndactyly type I FGFR2-related craniosynostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575520	rs_879253721	5 SubmittersRCV000014225 RCV000014226 RCV001254178 RCV001382547 RCV002273930
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)	SNV Germline	Chr10:121520160	Conflicting classifications of pathogenicity	Acrocephalosyndactyly type I Inborn genetic diseases FGFR2-related craniosynostosis	Criteria Provided Conflicting Classifications		rs_77543610	3 SubmittersRCV001029732 RCV001266231 RCV001228029
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		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		rs_1057519041	2 SubmittersRCV002249988 RCV003753216