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.60902del (p.Ser20301fs)	TTN	Likely pathogenic	2	179455550	179455550	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657141
Deletion	NM_001267550.2(TTN):c.57849del (p.Val19284fs)	TTN	Likely pathogenic	2	179459372	179459372	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1992974
Deletion	NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs)	TTN	Likely pathogenic	2	179402339	179402346	CCAGGATGG	C	criteria provided, single submitter	ClinGen:CA658657126
Deletion	NM_001267550.2(TTN):c.97395del (p.Glu32466fs)	TTN	Likely pathogenic	2	179407088	179407088	CG	C	criteria provided, single submitter	ClinGen:CA658657128
single nucleotide variant	NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter)	TTN	Likely pathogenic	2	179424843	179424843	C	T	criteria provided, single submitter	ClinGen:CA349547000
Indel	NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs)	TTN	Likely pathogenic	2	179408635	179408638	TCGT	AGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657129
Deletion	NM_001267550.2(TTN):c.95735del (p.Pro31912fs)	TTN	Likely pathogenic	2	179409221	179409221	TG	T	criteria provided, single submitter	ClinGen:CA658657133
single nucleotide variant	NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)	TTN	Likely pathogenic	2	179412812	179412812	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349482402
single nucleotide variant	NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter)	TTN	Likely pathogenic	2	179433533	179433533	C	A	criteria provided, single submitter	ClinGen:CA349611184
single nucleotide variant	NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)	TTN	Pathogenic/Likely pathogenic	2	179398819	179398819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1985742