筋ジストロフィー

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_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)	COL6A3	Pathogenic	2	238249762	238249763	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604490
Deletion	NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	FKTN	Pathogenic/Likely pathogenic	9	108366581	108366582	TCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5170418
single nucleotide variant	NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)	COL6A1	Likely pathogenic	21	47409676	47409676	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604561
single nucleotide variant	NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter)	DMD	Pathogenic	X	31191705	31191705	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604571
single nucleotide variant	NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)	COL6A2	Pathogenic	21	47536291	47536291	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604587
single nucleotide variant	NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)	DMD	Pathogenic	X	32382713	32382713	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604634
single nucleotide variant	NM_001848.3(COL6A1):c.1611+1G>A	COL6A1	Pathogenic	21	47418348	47418348	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604636
single nucleotide variant	NM_182961.4(SYNE1):c.10443+1G>T	SYNE1	Pathogenic	6	152680449	152680449	C	A	criteria provided, single submitter	ClinGen:CA10604697
Duplication	NM_004006.3(DMD):c.1047dup (p.Glu350fs)	DMD	Pathogenic	X	32663182	32663183	C	CT	criteria provided, single submitter	ClinGen:CA10604701
Duplication	NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter)	LAMA2	Pathogenic	6	129637236	129637237	A	AGAAGACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604760