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.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.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.1385T>C (p.Leu462Pro)	BAG3	Likely pathogenic	10	121436451	121436451	T	C	criteria provided, single submitter	ClinGen:CA261131,UniProtKB:O95817#VAR_066786,OMIM:603883.0008
single nucleotide variant	NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)	BAG3	Pathogenic	10	121436429	121436429	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA135016,UniProtKB:O95817#VAR_066785
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
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
Deletion	NM_004281.4(BAG3):c.1067del (p.Pro356fs)	BAG3	Pathogenic/Likely pathogenic	10	121436129	121436129	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273654
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
Deletion	NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs)	BAG3	Pathogenic	10	121436332	121436341	TGCTGAAAGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204624
single nucleotide variant	NM_004281.4(BAG3):c.909+1G>A	BAG3	Likely pathogenic	10	121432169	121432169	G	A	criteria provided, single submitter	ClinGen:CA352059