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.49958C>G (p.Ser16653Ter)	TTN	Pathogenic	2	179477294	179477294	G	C	criteria provided, single submitter	ClinGen:CA309235
single nucleotide variant	NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter)	TTN	Likely pathogenic	2	179477585	179477585	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.49346-2A>T	TTN	Pathogenic/Likely pathogenic	2	179478666	179478666	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309231
single nucleotide variant	NM_001267550.2(TTN):c.49100C>A (p.Ser16367Ter)	TTN	Pathogenic	2	179479024	179479024	G	T	criteria provided, single submitter	ClinGen:CA309228
Deletion	NM_001267550.2(TTN):c.48863del (p.Pro16288fs)	TTN	Likely pathogenic	2	179479378	179479378	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309407
single nucleotide variant	NM_001267550.2(TTN):c.48306G>A (p.Trp16102Ter)	TTN	Pathogenic	2	179481212	179481212	C	T	criteria provided, single submitter	ClinGen:CA309225
single nucleotide variant	NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)	TTN	Pathogenic	2	179481235	179481235	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309222
Deletion	NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)	TTN	Pathogenic/Likely pathogenic	2	179481600	179481601	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309406
single nucleotide variant	NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter)	TTN	Pathogenic	2	179482599	179482599	G	A	criteria provided, single submitter	ClinGen:CA309219
Indel	NM_001267550.2(TTN):c.1758_1763delinsT (p.Glu586fs)	TTN	Likely pathogenic	2	179655472	179655477	GTAGTT	A	criteria provided, single submitter	ClinGen:CA309396