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.66710del (p.Lys22237fs)	TTN	Likely pathogenic	2	179446285	179446285	CT	C	criteria provided, single submitter	ClinGen:CA16610390
Duplication	NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)	TTN	Likely pathogenic	2	179438027	179438028	T	TAAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA1990446
single nucleotide variant	NM_001267550.2(TTN):c.47269+2T>C	TTN	Likely pathogenic	2	179482914	179482914	A	G	criteria provided, single submitter	ClinGen:CA16610398
Duplication	NM_001267550.2(TTN):c.60865dup (p.Thr20289fs)	TTN	Likely pathogenic	2	179455586	179455587	G	GT	criteria provided, single submitter	ClinGen:CA16610402
Deletion	NM_001267550.2(TTN):c.61269del (p.Asp20424fs)	TTN	Likely pathogenic	2	179455183	179455183	CT	C	criteria provided, single submitter	ClinGen:CA16610426
Deletion	NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer)	TTN	Likely pathogenic	2	179455831	179455831	TA	T	criteria provided, single submitter	ClinGen:CA16610432
Duplication	NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer)	TTN	Likely pathogenic	2	179457161	179457162	T	TAAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAA	criteria provided, single submitter	ClinGen:CA16610436
single nucleotide variant	NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)	TTN	Likely pathogenic	2	179475819	179475819	C	A	criteria provided, single submitter	ClinGen:CA16610437
Duplication	NM_001267550.2(TTN):c.59109_59112dup (p.Arg19705fs)	TTN	Likely pathogenic	2	179457733	179457734	G	GTGGT	criteria provided, single submitter	ClinGen:CA16610445
Deletion	NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)	TTN	Likely pathogenic	2	179473007	179473034	AATAAGCCATCTACATTGGCTTTCAAGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610476