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
Indel	NM_001267550.2(TTN):c.82716_82717delinsA (p.Pro27574fs)	TTN	Pathogenic	2	179428142	179428143	GA	T	criteria provided, single submitter	ClinGen:CA309441
Deletion	NM_001267550.2(TTN):c.82658del (p.Gly27553fs)	TTN	Pathogenic	2	179428201	179428201	TC	T	criteria provided, single submitter	ClinGen:CA309440
single nucleotide variant	NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)	TTN	Likely pathogenic	2	179428220	179428220	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309345
single nucleotide variant	NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)	TTN	Pathogenic/Likely pathogenic	2	179428619	179428619	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309342
single nucleotide variant	NM_001267550.2(TTN):c.81964A>T (p.Arg27322Ter)	TTN	Pathogenic	2	179428895	179428895	T	A	criteria provided, single submitter	ClinGen:CA309339
single nucleotide variant	NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter)	TTN	Pathogenic	2	179429522	179429522	C	A	criteria provided, single submitter	ClinGen:CA309336
Deletion	NM_001267550.2(TTN):c.81202del (p.Tyr27068fs)	TTN	Pathogenic/Likely pathogenic	2	179429657	179429657	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309545
single nucleotide variant	NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)	TTN	Likely pathogenic	2	179430009	179430009	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309333
Deletion	NM_001267550.2(TTN):c.80584del (p.Ser26862fs)	TTN	Pathogenic/Likely pathogenic	2	179430275	179430275	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309439
Deletion	NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs)	TTN	Pathogenic/Likely pathogenic	2	179431050	179431053	CAACA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309437