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_001927.4(DES):c.1223del (p.Leu408fs)	DES	Likely pathogenic	2	220286261	220286261	CT	C	criteria provided, single submitter	ClinGen:CA10602840
single nucleotide variant	NM_001267550.2(TTN):c.66160+2T>C	TTN	Likely pathogenic	2	179447021	179447021	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1991571
single nucleotide variant	NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)	TTN	Pathogenic/Likely pathogenic	2	179428823	179428823	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604092
Deletion	NM_001267550.2(TTN):c.51883_51892del (p.Lys17295fs)	TTN	Likely pathogenic	2	179474145	179474154	GCTGCACGCTT	G	criteria provided, single submitter	ClinGen:CA10604203
Deletion	NM_001267550.2(TTN):c.70754del (p.Val23585fs)	TTN	Likely pathogenic	2	179440105	179440105	CA	C	criteria provided, single submitter	ClinGen:CA10604246
Insertion	NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)	TTN	Likely pathogenic	2	179414766	179414767	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604323
Indel	Single allele	TTN	Likely pathogenic	2	179433196	179433213	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.373A>T (p.Lys125Ter)	DES	Pathogenic	2	220283557	220283557	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604977
Deletion	NM_001927.4(DES):c.1213del (p.Tyr405fs)	DES	Pathogenic	2	220286251	220286251	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605083
Deletion	NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs)	TTN	Likely pathogenic	2	179395736	179395737	CCA	C	criteria provided, single submitter	ClinGen:CA10605549