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
Duplication	NM_001267550.2(TTN):c.83542dup (p.Ile27848fs)	TTN	Pathogenic	2	179427316	179427317	A	AT	criteria provided, single submitter	ClinGen:CA16617342
Duplication	NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)	TTN	Likely pathogenic	2	179428264	179428265	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617344
Deletion	NM_001267550.2(TTN):c.82193del (p.Gly27398fs)	TTN	Likely pathogenic	2	179428666	179428666	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617345
single nucleotide variant	NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)	TTN	Pathogenic/Likely pathogenic	2	179431066	179431066	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617346
single nucleotide variant	NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)	TTN	Pathogenic/Likely pathogenic	2	179431256	179431256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617347
Deletion	NM_001267550.2(TTN):c.79278del (p.Asp26427fs)	TTN	Likely pathogenic	2	179431581	179431581	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617348
Deletion	NM_001267550.2(TTN):c.78749del (p.Leu26250fs)	TTN	Pathogenic/Likely pathogenic	2	179432110	179432110	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617349
single nucleotide variant	NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)	TTN	Pathogenic/Likely pathogenic	2	179432455	179432455	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617350
single nucleotide variant	NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)	TTN	Pathogenic	2	179434581	179434581	C	T	criteria provided, single submitter	ClinGen:CA16617351
single nucleotide variant	NM_001267550.2(TTN):c.75081G>A (p.Trp25027Ter)	TTN	Likely pathogenic	2	179435778	179435778	C	T	criteria provided, single submitter	ClinGen:CA16617352