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.68498C>G (p.Ser22833Ter)	TTN	Pathogenic	2	179442744	179442744	G	C	criteria provided, single submitter	ClinGen:CA16603885
single nucleotide variant	NM_001267550.2(TTN):c.66769+1G>A	TTN	Likely pathogenic	2	179446225	179446225	C	T	criteria provided, single submitter	ClinGen:CA16603886
single nucleotide variant	NM_001267550.2(TTN):c.88594+2T>G	TTN	Likely pathogenic	2	179419590	179419590	A	C	criteria provided, single submitter	ClinGen:CA16603990
single nucleotide variant	NM_001267550.2(TTN):c.77212C>T (p.Gln25738Ter)	TTN	Likely pathogenic	2	179433647	179433647	G	A	criteria provided, single submitter	ClinGen:CA16603992
single nucleotide variant	NM_001267550.2(TTN):c.84041C>G (p.Ser28014Ter)	TTN	Pathogenic	2	179426818	179426818	G	C	criteria provided, single submitter	ClinGen:CA16603993
single nucleotide variant	NM_001267550.2(TTN):c.73443C>A (p.Tyr24481Ter)	TTN	Pathogenic	2	179437416	179437416	G	T	criteria provided, single submitter	ClinGen:CA16604000
single nucleotide variant	NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)	TTN	Pathogenic	2	179455719	179455719	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604007
single nucleotide variant	NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)	TTN	Pathogenic/Likely pathogenic	2	179463631	179463631	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604009
single nucleotide variant	NM_001267550.2(TTN):c.52857C>A (p.Cys17619Ter)	TTN	Pathogenic	2	179472657	179472657	G	T	criteria provided, single submitter	ClinGen:CA16604011
single nucleotide variant	NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)	TTN	Likely pathogenic	2	179638267	179638267	G	A	criteria provided, single submitter	ClinGen:CA2004799