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
Indel	NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)	TTN	Pathogenic/Likely pathogenic	2	179436483	179436491	GTTAGTCAG	CTTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617353
Duplication	NM_001267550.2(TTN):c.73184dup (p.Tyr24395Ter)	TTN	Pathogenic	2	179437674	179437675	A	AT	criteria provided, single submitter	ClinGen:CA16617354
Deletion	NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs)	TTN	Pathogenic/Likely pathogenic	2	179437896	179437903	ACACAGTGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617355
Duplication	NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs)	TTN	Likely pathogenic	2	179441804	179441805	C	CAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617357
Deletion	NM_001267550.2(TTN):c.68995del (p.Thr22999fs)	TTN	Likely pathogenic	2	179442067	179442067	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617358
Duplication	NM_001267550.2(TTN):c.68508dup (p.Val22837fs)	TTN	Pathogenic/Likely pathogenic	2	179442733	179442734	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617359
Deletion	NM_001267550.2(TTN):c.68308del (p.Thr22770fs)	TTN	Pathogenic/Likely pathogenic	2	179443359	179443359	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617361
Deletion	NM_001267550.2(TTN):c.66804_66807del (p.Lys22269fs)	TTN	Likely pathogenic	2	179445299	179445302	TCTTC	T	criteria provided, single submitter	ClinGen:CA16617362
single nucleotide variant	NM_001267550.2(TTN):c.66767T>G (p.Leu22256Ter)	TTN	Likely pathogenic	2	179446228	179446228	A	C	criteria provided, single submitter	ClinGen:CA16617363
Duplication	NM_001267550.2(TTN):c.63164dup (p.Val21056fs)	TTN	Pathogenic	2	179453287	179453288	C	CG	criteria provided, single submitter	ClinGen:CA16617366