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
Duplication	NM_001267550.2(TTN):c.69655dup (p.Arg23219fs)	TTN	Pathogenic	2	179441315	179441316	C	CT	criteria provided, single submitter	ClinGen:CA309423
Deletion	NM_001267550.2(TTN):c.69645del (p.Ser23215fs)	TTN	Likely pathogenic	2	179441326	179441326	CA	C	criteria provided, single submitter	ClinGen:CA309422
single nucleotide variant	NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter)	TTN	Pathogenic/Likely pathogenic	2	179441812	179441812	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309299
Deletion	NM_001267550.2(TTN):c.67421del (p.Lys22474fs)	TTN	Likely pathogenic	2	179444503	179444503	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.67058-1G>C	TTN	Pathogenic	2	179444957	179444957	C	G	criteria provided, single submitter	ClinGen:CA309494
Deletion	NM_001267550.2(TTN):c.65531del (p.Pro21844fs)	TTN	Pathogenic/Likely pathogenic	2	179448378	179448378	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309420
single nucleotide variant	NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)	TTN	Pathogenic/Likely pathogenic	2	179449279	179449279	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309296
Duplication	NM_001267550.2(TTN):c.64680dup (p.Gly21561fs)	TTN	Pathogenic/Likely pathogenic	2	179449687	179449688	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA309419
Duplication	NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter)	TTN	Pathogenic/Likely pathogenic	2	179451374	179451375	G	GTACTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA309418
single nucleotide variant	NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)	TTN	Pathogenic/Likely pathogenic	2	179452411	179452411	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309293