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_001267550.2(TTN):c.45895+1G>A	TTN	Likely pathogenic	2	179485441	179485441	C	T	criteria provided, single submitter	ClinGen:CA273576
Deletion	NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs)	TTN	Likely pathogenic	2	179566913	179566922	AGCTCTGCCGT	A	criteria provided, single submitter	ClinGen:CA273551
single nucleotide variant	NM_001927.4(DES):c.735+1G>C	DES	Likely pathogenic	2	220285069	220285069	G	C	criteria provided, single submitter	ClinGen:CA273134
single nucleotide variant	NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	DES	Pathogenic/Likely pathogenic	2	220288539	220288539	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273504
single nucleotide variant	NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)	TTN	Likely pathogenic	2	179465831	179465831	C	T	criteria provided, single submitter	ClinGen:CA273267
single nucleotide variant	NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)	TTN	Likely pathogenic	2	179468776	179468776	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273270
single nucleotide variant	NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)	TTN	Pathogenic/Likely pathogenic	2	179470369	179470369	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273273
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