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
Deletion	NM_001267550.2(TTN):c.98994del (p.Lys32998fs)	TTN	Pathogenic/Likely pathogenic	2	179403562	179403562	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273567
single nucleotide variant	NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)	TTN	Likely pathogenic	2	179404264	179404264	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273569
single nucleotide variant	NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)	TTN	Likely pathogenic	2	179404658	179404658	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273595
Duplication	NM_001256850.1(TTN):c.86916dup (p.Val28973fs)	TTN	Pathogenic/Likely pathogenic	2	179414725	179414726	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA273643
single nucleotide variant	NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)	TTN	Likely pathogenic	2	179415782	179415782	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273585
Deletion	NM_001267550.2(TTN):c.83603del (p.Gly27868fs)	TTN	Likely pathogenic	2	179427256	179427256	TC	T	criteria provided, single submitter	ClinGen:CA273641
single nucleotide variant	NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter)	TTN	Likely pathogenic	2	179428086	179428086	C	T	criteria provided, single submitter	ClinGen:CA273672
Deletion	NM_001267550.2(TTN):c.81886del (p.Glu27296fs)	TTN	Pathogenic/Likely pathogenic	2	179428973	179428973	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273253
Deletion	NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)	TTN	Likely pathogenic	2	179429847	179429862	TTTGGCAGCCACCAGTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273254
Duplication	NM_003319.4(TTN):c.50226dup (p.Ser16743fs)	TTN	Likely pathogenic	2	179433437	179433438	T	TG	criteria provided, single submitter	ClinGen:CA273537