Total 7 pathogenic variants reported for Klippel-Feil syndrome 2, autosomal recessive

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)	SNV Germline	Chr17:43642011	Pathogenic	Klippel-Feil syndrome 2, autosomal recessive	No Assertion Criteria Provided	CA399903609	rs_772798486	1 SubmittersRCV000032704
NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)	SNV Germline	Chr17:43661285	Pathogenic	Klippel-Feil syndrome 2, autosomal recessive	No Assertion Criteria Provided	CA174982	rs_713993044	1 SubmittersRCV000149546
NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)	SNV Germline	Chr17:43643616	Likely pathogenic	Klippel-Feil syndrome 2, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV004764428
NM_004527.4(MEOX1):c.282G>A (p.Trp94Ter)	SNV Germline	Chr17:43661253	Pathogenic/Likely pathogenic	Condition: not provided Klippel-Feil syndrome 2, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005201040 RCV005230869
NM_004527.4(MEOX1):c.268C>T (p.Gln90Ter)	SNV Germline	Chr17:43661267	Likely pathogenic	Klippel-Feil syndrome 2, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV005362110