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_004281.4(BAG3):c.730C>T (p.Gln244Ter)	BAG3	Pathogenic/Likely pathogenic	10	121431989	121431989	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576778
single nucleotide variant	NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)	BAG3	Pathogenic	10	121435991	121435991	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576779
Deletion	NM_001267550.2(TTN):c.64688del (p.Pro21563fs)	TTN	Likely pathogenic	2	179449680	179449680	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581139
single nucleotide variant	NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)	BAG3	Pathogenic	10	121431958	121431958	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581154
Duplication	NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)	TTN	Pathogenic/Likely pathogenic	2	179401027	179401028	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581827
Duplication	NM_001267550.2(TTN):c.96069dup (p.Val32024fs)	TTN	Likely pathogenic	2	179408801	179408802	C	CA	criteria provided, single submitter	ClinGen:CA10581830
single nucleotide variant	NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	TTN	Likely pathogenic	2	179421814	179421814	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581835
single nucleotide variant	NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)	TTN	Likely pathogenic	2	179424184	179424184	C	T	criteria provided, single submitter	ClinGen:CA10581838
single nucleotide variant	NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)	TTN	Pathogenic/Likely pathogenic	2	179434142	179434142	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581841
Insertion	NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)	TTN	Pathogenic	2	179434679	179434680	A	AAGGAGGGCTTGGTTCACTAAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581842