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.84482del (p.Pro28161fs)	TTN	Likely pathogenic	2	179426377	179426377	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610252
single nucleotide variant	NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)	TTN	Pathogenic	2	179422522	179422522	C	A	criteria provided, single submitter	ClinGen:CA16610256
single nucleotide variant	NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)	TTN	Likely pathogenic	2	179424524	179424524	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610263
Indel	NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs)	TTN	Likely pathogenic	2	179424556	179424569	GCCTTGACAATCAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610264
single nucleotide variant	NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)	TTN	Pathogenic/Likely pathogenic	2	179428586	179428586	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610279
single nucleotide variant	NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)	TTN	Pathogenic/Likely pathogenic	2	179434205	179434205	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1989877
single nucleotide variant	NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)	TTN	Pathogenic/Likely pathogenic	2	179399128	179399128	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1985790,OMIM:188840.0015
Duplication	NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)	TTN	Pathogenic/Likely pathogenic	2	179442173	179442174	G	GGTAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA1991016
Deletion	NM_001267550.2(TTN):c.71242del (p.Trp23748fs)	TTN	Likely pathogenic	2	179439617	179439617	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610325
Duplication	NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter)	TTN	Likely pathogenic	2	179440643	179440644	T	TA	criteria provided, single submitter	ClinGen:CA16610329