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.34922del (p.Pro11641fs)	TTN	Pathogenic	2	179537142	179537142	TG	T	criteria provided, single submitter	ClinGen:CA658796070
single nucleotide variant	NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)	TTN	Likely pathogenic	2	179645884	179645884	C	T	criteria provided, single submitter	ClinGen:CA349483247
Deletion	NM_001267550.2(TTN):c.47961del (p.Gly15988fs)	TTN	Pathogenic	2	179481655	179481655	CT	C	criteria provided, single submitter	ClinGen:CA658796075
single nucleotide variant	NM_001267550.2(TTN):c.20836+1G>A	TTN	Pathogenic	2	179590094	179590094	C	T	criteria provided, single submitter	ClinGen:CA349540437
single nucleotide variant	NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)	TTN	Likely pathogenic	2	179417634	179417634	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349514407
Duplication	NM_001267550.2(TTN):c.89084dup (p.Thr29696fs)	TTN	Likely pathogenic	2	179418753	179418754	T	TA	criteria provided, single submitter	ClinGen:CA658795973
Duplication	NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs)	TTN	Likely pathogenic	2	179430811	179430812	G	GTGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796023
Deletion	NM_001267550.2(TTN):c.78977del (p.Lys26326fs)	TTN	Likely pathogenic	2	179431882	179431882	CT	C	criteria provided, single submitter	ClinGen:CA658796026
single nucleotide variant	NM_001267550.2(TTN):c.74829T>G (p.Tyr24943Ter)	TTN	Likely pathogenic	2	179436030	179436030	A	C	criteria provided, single submitter	ClinGen:CA349630890
Duplication	NM_001267550.2(TTN):c.71298dup (p.Arg23767fs)	TTN	Likely pathogenic	2	179439560	179439561	G	GC	criteria provided, single submitter	ClinGen:CA658796003