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_024854.5(PYROXD1):c.285+1G>A	PYROXD1	Pathogenic/Likely pathogenic	12	21598401	21598401	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6478154,OMIM:617220.0001
single nucleotide variant	NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)	PYROXD1	Pathogenic	12	21605064	21605064	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6478220,OMIM:617220.0003
single nucleotide variant	NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His)	PYROXD1	Pathogenic	12	21615796	21615796	G	C	criteria provided, single submitter	ClinGen:CA16042280,OMIM:617220.0002
single nucleotide variant	NM_007078.3(LDB3):c.686G>T (p.Gly229Val)	LDB3	Likely pathogenic	10	88441557	88441557	G	T	criteria provided, single submitter	ClinGen:CA377455773
Deletion	NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	CRYAB	Pathogenic/Likely pathogenic	11	111779673	111779673	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA308250
single nucleotide variant	NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)	CRYAB	Likely pathogenic	11	111779690	111779690	T	C	criteria provided, single submitter	ClinGen:CA382596838
single nucleotide variant	NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)	CRYAB	Pathogenic	11	111781055	111781055	C	A	criteria provided, single submitter	ClinGen:CA250008
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
single nucleotide variant	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter)	BAG3	Likely pathogenic	10	121411207	121411207	C	A	criteria provided, single submitter	-
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