Total 2 pathogenic variants reported for Muenke syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	SNV Germline	Chr4:1801844	Pathogenic/Likely pathogenic	Muenke syndrome Saethre-Chotzen syndrome not specified Craniosynostosis syndrome Condition: not provided Inborn genetic diseases 7 conditions Hypochondroplasia Achondroplasia Abnormality of the nervous system FGFR3-related chondrodysplasia 14 conditions Achondroplasia Muenke syndrome Hypochondroplasia Thanatophoric dysplasia type 1 Crouzon syndrome-acanthosis nigricans syndrome FGFR3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA159700	rs_4647924	39 SubmittersRCV000017746 RCV000017747 RCV000121075 RCV000193831 RCV000436385 RCV000622712 RCV000626772 RCV000987393 RCV001334261 RCV001813993 RCV002273933 RCV002476986 RCV003483434 RCV004554603
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys)	SNV Germline	Chr4:1801671	Pathogenic/Likely pathogenic	Condition: not provided Muenke syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1721198491	4 SubmittersRCV001576124 RCV002283520