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
single nucleotide variant	NM_001267550.2(TTN):c.87236C>G (p.Ser29079Ter)	TTN	Pathogenic	2	179422845	179422845	G	C	criteria provided, single submitter	ClinGen:CA16604095
single nucleotide variant	NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)	TTN	Likely pathogenic	2	179426604	179426604	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1988805
single nucleotide variant	NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)	TTN	Likely pathogenic	2	179433994	179433994	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604111
single nucleotide variant	NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)	TTN	Likely pathogenic	2	179449626	179449626	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604139
single nucleotide variant	NM_001927.4(DES):c.1A>G (p.Met1Val)	DES	Likely pathogenic	2	220283185	220283185	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604392
Indel	NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs)	TTN	Likely pathogenic	2	179398544	179398546	ATT	TATA	criteria provided, single submitter	ClinGen:CA16610191
single nucleotide variant	NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)	TTN	Likely pathogenic	2	179397968	179397968	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610211
single nucleotide variant	NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)	TTN	Likely pathogenic	2	179399281	179399281	G	A	criteria provided, single submitter	ClinGen:CA16610212
single nucleotide variant	NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)	TTN	Likely pathogenic	2	179409151	179409151	G	T	criteria provided, single submitter	ClinGen:CA16610217
single nucleotide variant	NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)	TTN	Likely pathogenic	2	179417766	179417766	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610236