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_006790.3(MYOT):c.170C>T (p.Thr57Ile)	MYOT	Pathogenic	5	137206510	137206510	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340465,OMIM:604103.0001
single nucleotide variant	NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)	MYOT	Pathogenic/Likely pathogenic	5	137206504	137206504	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253617,OMIM:604103.0002
single nucleotide variant	NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)	MYOT	Pathogenic	5	137206519	137206519	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253620,OMIM:604103.0003
single nucleotide variant	NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)	MYOT	Pathogenic/Likely pathogenic	5	137206519	137206519	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253623,OMIM:604103.0004
single nucleotide variant	NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)	MYOT	Pathogenic/Likely pathogenic	5	137206456	137206456	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117796,OMIM:604103.0006
single nucleotide variant	NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	BAG3	Pathogenic	10	121431885	121431885	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA308228,UniProtKB:O95817#VAR_063089,OMIM:603883.0001
single nucleotide variant	NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)	TTN	Likely pathogenic	2	179647707	179647707	A	G	criteria provided, single submitter	ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003
Indel	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN	Pathogenic	2	179391925	179391935	CCATGTTACTT	TTTTTCTTTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA122613,OMIM:188840.0004
single nucleotide variant	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN	Likely pathogenic	2	179391848	179391848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341209,OMIM:188840.0005
single nucleotide variant	NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	TTN	Pathogenic/Likely pathogenic	2	179391875	179391875	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341213,OMIM:188840.0006