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.100390G>T (p.Glu33464Ter)	TTN	Likely pathogenic	2	179401084	179401084	C	A	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter)	TTN	Likely pathogenic	2	179402150	179402151	T	TA	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs)	TTN	Likely pathogenic	2	179410665	179410674	AGGATAGGGTT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter)	TTN	Likely pathogenic	2	179410995	179410995	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)	TTN	Likely pathogenic	2	179413262	179413262	C	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.89006del (p.Phe29669fs)	TTN	Likely pathogenic	2	179418832	179418832	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)	TTN	Pathogenic/Likely pathogenic	2	179419249	179419249	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.88721del (p.Arg29574fs)	TTN	Likely pathogenic	2	179419353	179419353	AC	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.88177del (p.Thr29393fs)	TTN	Likely pathogenic	2	179421704	179421704	GT	G	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.87707dup (p.Thr29237fs)	TTN	Likely pathogenic	2	179422281	179422282	T	TG	criteria provided, single submitter	-