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
single nucleotide variant	NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter)	FLNC	Pathogenic	7	128480657	128480657	C	A	criteria provided, single submitter	ClinGen:CA369226597
single nucleotide variant	NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter)	FLNC	Pathogenic	7	128481565	128481565	G	T	criteria provided, single submitter	ClinGen:CA369227917
single nucleotide variant	NM_001458.5(FLNC):c.7251+1G>A	FLNC	Pathogenic	7	128495369	128495369	G	A	criteria provided, single submitter	ClinGen:CA369216134,OMIM:102565.0013
Deletion	NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)	FLNC	Pathogenic	7	128496949	128496961	GGTCCTGGGCTCGA	G	criteria provided, single submitter	ClinGen:CA658797007
Deletion	NM_001267550.2(TTN):c.87247del (p.Val29083fs)	TTN	Likely pathogenic	2	179422834	179422834	AC	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.63229_63230del (p.Thr21077fs)	TTN	Likely pathogenic	2	179452904	179452905	GGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.7688A>G (p.Tyr2563Cys)	FLNC	Pathogenic	7	128497298	128497298	A	G	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.97470_97492+248del	TTN	Likely pathogenic	2	179406743	179407013	AACTCCCTCCTCTTCTCTTTCATAAGAGTGAAGATATTAAAAAAAAAATCAAGCCTAAGTGTGTTGAAAACCTCTGAGAAAAGGAGGTTTAGAAACCTGAGAAAAGGAGGTTTAGAAACCTTAGAAAGACCACAGGGTTAATTTTGTGACCTATTTTTATTTACATTAGGGCATATTAAAAACAAATTCTTTTTTGTTAACATTCAGAATCAGAGGTGGGGAGAGTGGTGGAAGGGCCTGTGGACTTACGGATGCTGCTGCGACACTCTATG	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)	TTN	Likely pathogenic	2	179413694	179413701	TGTAGATCA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.89625del (p.Asp29876fs)	TTN	Likely pathogenic	2	179418002	179418002	CT	C	criteria provided, single submitter	-