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.1345A>T (p.Lys449Ter)	BAG3	Likely pathogenic	10	121436411	121436411	A	T	criteria provided, single submitter	ClinGen:CA16612754
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
Duplication	NM_004281.4(BAG3):c.855_859dup (p.Leu287fs)	BAG3	Pathogenic/Likely pathogenic	10	121432110	121432111	G	GCACGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042687
Duplication	NM_004281.4(BAG3):c.1292dup (p.Val432fs)	BAG3	Pathogenic	10	121436356	121436357	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587696
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.699C>A (p.Tyr233Ter)	BAG3	Pathogenic	10	121431958	121431958	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581154
single nucleotide variant	NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)	BAG3	Pathogenic	10	121435991	121435991	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576779
single nucleotide variant	NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)	BAG3	Pathogenic/Likely pathogenic	10	121431989	121431989	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576778
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
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