筋原線維性ミオパチー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001458.5(FLNC):c.3180del (p.Asp1061fs)	FLNC	Pathogenic/Likely pathogenic	7	128484308	128484308	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618352
single nucleotide variant	NM_001458.5(FLNC):c.3791-1G>C	FLNC	Pathogenic/Likely pathogenic	7	128486043	128486043	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4475142
Duplication	NM_004281.4(BAG3):c.206dup (p.Ser70fs)	BAG3	Pathogenic	10	121429385	121429386	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618932
Duplication	NM_004281.4(BAG3):c.350dup (p.Gly118fs)	BAG3	Likely pathogenic	10	121429530	121429531	G	GC	criteria provided, single submitter	ClinGen:CA16618933
Deletion	NM_004281.4(BAG3):c.580del (p.Ser194fs)	BAG3	Likely pathogenic	10	121431839	121431839	GA	G	criteria provided, single submitter	ClinGen:CA16618934
Duplication	NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)	TTN	Likely pathogenic	2	179395531	179395532	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621776
single nucleotide variant	NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter)	TTN	Likely pathogenic	2	179426803	179426803	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349562639
Duplication	NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)	TTN	Likely pathogenic	2	179443423	179443424	T	TGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293794
single nucleotide variant	NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)	TTN	Pathogenic/Likely pathogenic	2	179456569	179456569	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349488139
single nucleotide variant	NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)	DNAJB6	Likely pathogenic	7	157160096	157160096	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA370166092