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.84557dup (p.Ile28187fs)	TTN	Likely pathogenic	2	179426301	179426302	T	TA	criteria provided, single submitter	ClinGen:CA658795999
Deletion	NM_001267550.2(TTN):c.84476del (p.Gly28159fs)	TTN	Likely pathogenic	2	179426383	179426383	AC	A	criteria provided, single submitter	ClinGen:CA658796000
Deletion	NM_001267550.2(TTN):c.81126del (p.Glu27042fs)	TTN	Likely pathogenic	2	179429733	179429733	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796021
single nucleotide variant	NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)	TTN	Likely pathogenic	2	179433632	179433632	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349611790
single nucleotide variant	NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)	TTN	Likely pathogenic	2	179434885	179434885	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349618632
Deletion	NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs)	TTN	Likely pathogenic	2	179435377	179435380	CTTTA	C	criteria provided, single submitter	ClinGen:CA658796031
Indel	NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs)	TTN	Likely pathogenic	2	179438214	179438214	A	TTGCAG	criteria provided, single submitter	ClinGen:CA658796038
Deletion	NM_001267550.2(TTN):c.70794del (p.Glu23599fs)	TTN	Likely pathogenic	2	179440065	179440065	CT	C	criteria provided, single submitter	ClinGen:CA658796004
Indel	NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)	TTN	Likely pathogenic	2	179440636	179440649	TATCTGTTACATTC	GAAGAGTAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796005
Deletion	NM_001267550.2(TTN):c.62627del (p.Val20876fs)	TTN	Likely pathogenic	2	179453825	179453825	CA	C	criteria provided, single submitter	ClinGen:CA658796040