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.79684C>T (p.Arg26562Ter)	TTN	Pathogenic/Likely pathogenic	2	179431175	179431175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351848
Deletion	NM_001267550.2(TTN):c.76373del (p.Pro25458fs)	TTN	Pathogenic	2	179434486	179434486	TG	T	criteria provided, single submitter	ClinGen:CA352075
Duplication	NM_001267550.2(TTN):c.75314dup (p.Val25106fs)	TTN	Likely pathogenic	2	179435544	179435545	C	CT	criteria provided, single submitter	ClinGen:CA351993
Duplication	NM_001267550.2(TTN):c.69639dup (p.Val23214fs)	TTN	Likely pathogenic	2	179441331	179441332	C	CA	criteria provided, single submitter	ClinGen:CA351857
single nucleotide variant	NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)	TTN	Likely pathogenic	2	179442805	179442805	C	A	criteria provided, single submitter	ClinGen:CA088467
single nucleotide variant	NM_001267550.2(TTN):c.67637-2A>G	TTN	Likely pathogenic	2	179444122	179444122	T	C	criteria provided, single submitter	ClinGen:CA352129
single nucleotide variant	NM_001267550.2(TTN):c.65576-2A>G	TTN	Likely pathogenic	2	179447956	179447956	T	C	criteria provided, single submitter	ClinGen:CA351934
single nucleotide variant	NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)	TTN	Likely pathogenic	2	179458861	179458861	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351816
Duplication	NM_001267550.2(TTN):c.54990dup (p.Thr18331fs)	TTN	Likely pathogenic	2	179467138	179467139	T	TA	criteria provided, single submitter	ClinGen:CA351962
single nucleotide variant	NM_001267550.2(TTN):c.45896-2A>G	TTN	Likely pathogenic	2	179485354	179485354	T	C	criteria provided, single submitter	ClinGen:CA352019