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.81262_81269del (p.Gln27088fs)	TTN	Likely pathogenic	2	179429590	179429597	AAGCATCTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353247
Deletion	NM_001267550.2(TTN):c.82513del (p.Ile27505fs)	TTN	Likely pathogenic	2	179428346	179428346	AT	A	criteria provided, single submitter	ClinGen:CA353098
single nucleotide variant	NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	TTN	Pathogenic/Likely pathogenic	2	179425769	179425769	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090441
Deletion	NM_001267550.2(TTN):c.86641del (p.His28881fs)	TTN	Likely pathogenic	2	179424218	179424218	TG	T	criteria provided, single submitter	ClinGen:CA353403
single nucleotide variant	NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter)	TTN	Likely pathogenic	2	179423219	179423219	C	T	criteria provided, single submitter	ClinGen:CA353166
Duplication	NM_001267550.2(TTN):c.89750dup (p.Val29918fs)	TTN	Likely pathogenic	2	179417876	179417877	T	TC	criteria provided, single submitter	ClinGen:CA353378
Deletion	NM_001267550.2(TTN):c.90087_90088del (p.Glu30029fs)	TTN	Likely pathogenic	2	179417539	179417540	ACT	A	criteria provided, single submitter	ClinGen:CA353179
single nucleotide variant	NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)	TTN	Likely pathogenic	2	179413670	179413670	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353320
Deletion	NM_001267550.2(TTN):c.94852_94858del (p.Ala31618fs)	TTN	Likely pathogenic	2	179411200	179411206	AATCGGGC	A	criteria provided, single submitter	ClinGen:CA353038
Deletion	NM_001267550.2(TTN):c.95415_95416+2del	TTN	Likely pathogenic	2	179410545	179410548	TACTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351239