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.268C>T (p.Arg90Ter)	BAG3	Pathogenic	10	121429450	121429450	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042712
single nucleotide variant	NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)	BAG3	Pathogenic	10	121429444	121429444	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294747
single nucleotide variant	NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)	BAG3	Pathogenic/Likely pathogenic	10	121429440	121429440	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294739
Duplication	NM_004281.4(BAG3):c.206dup (p.Ser70fs)	BAG3	Pathogenic	10	121429385	121429386	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618932
single nucleotide variant	NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)	BAG3	Pathogenic	10	121411333	121411333	G	A	criteria provided, single submitter	-
Deletion	NM_004281.4(BAG3):c.100_107del (p.Thr34fs)	BAG3	Likely pathogenic	10	121411286	121411293	AGACCGGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273668
single nucleotide variant	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3	Pathogenic/Likely pathogenic	10	121411264	121411264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294121
Deletion	NM_004281.4(BAG3):c.72del (p.Gly25fs)	BAG3	Pathogenic/Likely pathogenic	10	121411254	121411254	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273126
single nucleotide variant	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter)	BAG3	Likely pathogenic	10	121411207	121411207	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB	Likely pathogenic	11	111782283	111782283	G	A	criteria provided, single submitter	ClinGen:CA130927,OMIM:123590.0010