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.96268C>T (p.Gln32090Ter)	TTN	Likely pathogenic	2	179408603	179408603	G	A	criteria provided, single submitter	ClinGen:CA10576457
single nucleotide variant	NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)	TTN	Pathogenic/Likely pathogenic	2	179424422	179424422	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576468
single nucleotide variant	NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter)	TTN	Likely pathogenic	2	179425349	179425349	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576469
single nucleotide variant	NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter)	TTN	Likely pathogenic	2	179430365	179430365	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576478
Duplication	NM_003319.4(TTN):c.45637dup (p.Thr15213fs)	TTN	Likely pathogenic	2	179438026	179438027	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576486
single nucleotide variant	NM_001267550.2(TTN):c.64397-1G>C	TTN	Likely pathogenic	2	179450075	179450075	C	G	criteria provided, single submitter	ClinGen:CA10576497
single nucleotide variant	NM_001267550.2(TTN):c.64094-2A>G	TTN	Likely pathogenic	2	179451536	179451536	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576498
Duplication	NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)	TTN	Likely pathogenic	2	179453542	179453543	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576500
single nucleotide variant	NM_001267550.2(TTN):c.48761-1G>C	TTN	Likely pathogenic	2	179479481	179479481	C	G	criteria provided, single submitter	ClinGen:CA10576521
Deletion	NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs)	TTN	Likely pathogenic	2	179623767	179623773	AAACGTGT	A	criteria provided, single submitter	ClinGen:CA10576569