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
Duplication	NM_001267550.2(TTN):c.79447dup (p.Asp26483fs)	TTN	Likely pathogenic	2	179431411	179431412	T	TC	criteria provided, single submitter	ClinGen:CA10587472
Deletion	NM_001267550.2(TTN):c.73508del (p.Asn24503fs)	TTN	Likely pathogenic	2	179437351	179437351	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587478
single nucleotide variant	NM_001267550.2(TTN):c.67637-1G>C	TTN	Likely pathogenic	2	179444121	179444121	C	G	criteria provided, single submitter	ClinGen:CA10587482
Duplication	NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs)	TTN	Likely pathogenic	2	179454814	179454815	C	CT	criteria provided, single submitter	ClinGen:CA10587488
Deletion	NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)	TTN	Pathogenic/Likely pathogenic	2	179457380	179457381	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587492
single nucleotide variant	NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)	TTN	Pathogenic	2	179482584	179482584	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1995041
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
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_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)	TTN	Pathogenic/Likely pathogenic	2	179429822	179429822	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588325
Indel	NM_001267550.2(TTN):c.69211_69214delinsTCT (p.Pro23071fs)	TTN	Pathogenic	2	179441848	179441851	TTGG	AGA	criteria provided, single submitter	ClinGen:CA10588326