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.90623dup (p.Asn30208fs)	TTN	Likely pathogenic	2	179417003	179417004	A	AT	criteria provided, single submitter	ClinGen:CA658795969
Duplication	NM_001267550.2(TTN):c.87733dup (p.Trp29245fs)	TTN	Likely pathogenic	2	179422255	179422256	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795978
single nucleotide variant	NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter)	TTN	Likely pathogenic	2	179432784	179432784	G	T	criteria provided, single submitter	ClinGen:CA349603821
single nucleotide variant	NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter)	TTN	Likely pathogenic	2	179427980	179427980	G	A	criteria provided, single submitter	ClinGen:CA349570886
single nucleotide variant	NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter)	TTN	Likely pathogenic	2	179425104	179425104	A	T	criteria provided, single submitter	ClinGen:CA349548137
Deletion	NM_001267550.2(TTN):c.74536del (p.Val24846fs)	TTN	Likely pathogenic	2	179436323	179436323	AC	A	criteria provided, single submitter	ClinGen:CA658796033
Duplication	NM_001267550.2(TTN):c.96909dup (p.Pro32304fs)	TTN	Likely pathogenic	2	179407671	179407672	G	GC	criteria provided, single submitter	ClinGen:CA658795967
single nucleotide variant	NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)	TTN	Likely pathogenic	2	179436221	179436221	G	A	criteria provided, single submitter	ClinGen:CA349632580
single nucleotide variant	NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)	TTN	Likely pathogenic	2	179411847	179411847	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349474274
single nucleotide variant	NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)	TTN	Likely pathogenic	2	179443860	179443860	C	A	criteria provided, single submitter	ClinGen:CA349422569