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	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 Intellectual disability 14 conditions	Criteria Provided Multiple Submitters No Conflicts	CA129944	rs_28931614	55 SubmittersRCV000017724 RCV000029207 RCV000255750 RCV000763121 RCV001266979 RCV001807732 RCV002276551 RCV003227605 RCV004545731 RCV004798732 RCV004783725 RCV005624694 RCV005209487
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	SNV Germline/somatic	Chr4:1801837	Pathogenic	Thanatophoric dysplasia type 1 Multiple myeloma Skeletal dysplasia with acanthosis nigricans Epidermal nevus Seborrheic keratosis Condition: not provided 13 conditions Cervical cancer Achondroplasia Connective tissue disorder Hamartoma FGFR3-related chondrodysplasia Thanatophoric dysplasia, type 2 See cases Malignant tumor of urinary bladder Muenke syndrome Thanatophoric dysplasia type 1 Thanatophoric dysplasia, type 2 14 conditions FGFR3-related disorder 14 conditions	Criteria Provided Multiple Submitters No Conflicts	CA126378	rs_121913482	46 SubmittersRCV000017731 RCV000017732 RCV000017733 RCV000017734 RCV000017735 RCV000327823 RCV000414822 RCV001196297 RCV001804739 RCV002276552 RCV001526641 RCV001849270 RCV003388567 RCV003155030 RCV003332082 RCV004798733 RCV004795425 RCV000763118 RCV002243648 RCV005025063
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 Inborn genetic diseases 7 conditions Hypochondroplasia Achondroplasia Abnormality of the nervous system FGFR3-related chondrodysplasia FGFR3-related disorder Thanatophoric dysplasia type 1 Crouzon syndrome-acanthosis nigricans syndrome Achondroplasia Hypochondroplasia Muenke syndrome 14 conditions	Criteria Provided Multiple Submitters No Conflicts	CA159700	rs_4647924	45 SubmittersRCV000017747 RCV000017746 RCV000121075 RCV000193831 RCV000436385 RCV000622712 RCV000626772 RCV000987393 RCV001334261 RCV001813993 RCV002273933 RCV004554603 RCV003483434 RCV005003375
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	CA355975545	rs_1721198491	6 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	CA2809738	rs_371729802	2 SubmittersRCV003558767 RCV004799416