筋原線維性ミオパチー

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	BAG3	Pathogenic/Likely pathogenic	10	121429549	121429549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259790,OMIM:603883.0004
single nucleotide variant	NM_004281.4(BAG3):c.481C>T (p.Gln161Ter)	BAG3	Pathogenic	10	121429663	121429663	C	T	criteria provided, single submitter	ClinGen:CA10587694
single nucleotide variant	NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)	BAG3	Pathogenic	10	121431773	121431773	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)	BAG3	Pathogenic	10	121431796	121431796	C	A	criteria provided, single submitter	-
Deletion	NM_004281.4(BAG3):c.580del (p.Ser194fs)	BAG3	Likely pathogenic	10	121431839	121431839	GA	G	criteria provided, single submitter	ClinGen:CA16618934
Duplication	NM_004281.4(BAG3):c.607dup (p.Arg203fs)	BAG3	Pathogenic	10	121431865	121431866	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612935
single nucleotide variant	NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)	BAG3	Pathogenic/Likely pathogenic	10	121431884	121431884	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	BAG3	Pathogenic	10	121431885	121431885	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA308228,UniProtKB:O95817#VAR_063089,OMIM:603883.0001
single nucleotide variant	NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)	BAG3	Pathogenic	10	121431885	121431885	C	A	criteria provided, single submitter	ClinGen:CA170913,OMIM:603883.0010
single nucleotide variant	NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)	BAG3	Pathogenic	10	121431958	121431958	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581154