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.107205G>A (p.Trp35735Ter)	TTN	Likely pathogenic	2	179393273	179393273	C	T	criteria provided, single submitter	ClinGen:CA10606844
Deletion	NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)	TTN	Pathogenic/Likely pathogenic	2	179412953	179412957	CAAGCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606880
single nucleotide variant	NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)	TTN	Pathogenic/Likely pathogenic	2	179396929	179396929	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1985430
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.1116G>C (p.Gln372His)	PYROXD1	Pathogenic	12	21615796	21615796	G	C	criteria provided, single submitter	ClinGen:CA16042280,OMIM:617220.0002
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_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)	TTN	Likely pathogenic	2	179422527	179422527	C	T	criteria provided, single submitter	ClinGen:CA16042363
Deletion	NM_001267550.2(TTN):c.75492del (p.Phe25165fs)	TTN	Likely pathogenic	2	179435367	179435367	AG	A	criteria provided, single submitter	ClinGen:CA16042365
Deletion	NM_001267550.2(TTN):c.44663del (p.Asn14888fs)	TTN	Likely pathogenic	2	179489344	179489344	AT	A	criteria provided, single submitter	ClinGen:CA16042366
single nucleotide variant	NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)	TTN	Pathogenic/Likely pathogenic	2	179400517	179400517	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042374