Total 6 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.1138G>A (p.Gly380Arg)	SNV Germline/somatic	Chr4:1804392	Pathogenic/Likely pathogenic	Achondroplasia Epidermal nevus Condition: not provided 14 conditions Inborn genetic diseases Hypochondroplasia Connective tissue disorder Camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3-related disorder Muenke syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	Criteria Provided Multiple Submitters No Conflicts	CA129944	rs_28931614	53 SubmittersRCV000017724 RCV000029207 RCV000255750 RCV000763121 RCV001266979 RCV001807732 RCV002276551 RCV003227605 RCV004545731 RCV004798732 RCV004783725
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	SNV Germline/somatic	Chr4:1801837	Pathogenic	Thanatophoric dysplasia type 1 14 conditions FGFR3-related disorder Achondroplasia Connective tissue disorder Thanatophoric dysplasia, type 2 Skeletal dysplasia with acanthosis nigricans Epidermal nevus Seborrheic keratosis Multiple myeloma Condition: not provided 13 conditions Hamartoma Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 Cervical cancer FGFR3-related chondrodysplasia See cases Malignant tumor of urinary bladder Muenke syndrome	Criteria Provided Multiple Submitters No Conflicts	CA126378	rs_121913482	43 SubmittersRCV000017731 RCV000763118 RCV002243648 RCV001804739 RCV002276552 RCV003388567 RCV000017733 RCV000017734 RCV000017735 RCV000017732 RCV000327823 RCV000414822 RCV001526641 RCV004795425 RCV001196297 RCV001849270 RCV003155030 RCV003332082 RCV004798733
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	SNV Germline	Chr4:1801844	Pathogenic/Likely pathogenic	Saethre-Chotzen syndrome Muenke syndrome not specified Craniosynostosis syndrome Condition: not provided 7 conditions Inborn genetic diseases Hypochondroplasia Achondroplasia Abnormality of the nervous system FGFR3-related chondrodysplasia 14 conditions Crouzon syndrome-acanthosis nigricans syndrome Achondroplasia Hypochondroplasia Thanatophoric dysplasia type 1 Muenke syndrome FGFR3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA159700	rs_4647924	43 SubmittersRCV000017747 RCV000017746 RCV000121075 RCV000193831 RCV000436385 RCV000626772 RCV000622712 RCV000987393 RCV001334261 RCV001813993 RCV002273933 RCV002476986 RCV003483434 RCV004554603
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val)	SNV Germline	Chr4:1805636	Conflicting classifications of pathogenicity	Hypochondroplasia Condition: not provided Muenke syndrome	Criteria Provided Conflicting Classifications	CA341417	rs_80053154	9 SubmittersRCV000017754 RCV001269544 RCV004798734
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys)	SNV Germline	Chr4:1801671	Pathogenic/Likely pathogenic	Condition: not provided Muenke syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1721198491	5 SubmittersRCV001576124 RCV002283520 RCV004619484
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu)	SNV Germline	Chr4:1799332	Conflicting classifications of pathogenicity	Condition: not provided Muenke syndrome	Criteria Provided Conflicting Classifications		rs_371729802	2 SubmittersRCV003558767 RCV004799416