筋ジストロフィー

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
Deletion	NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs)	LAMA2	Pathogenic	6	129513825	129513826	GAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605445
Deletion	NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer)	DMD	Pathogenic	X	31187660	31187660	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605447
Duplication	NM_004006.3(DMD):c.1530dup (p.Thr511fs)	DMD	Pathogenic	X	32613945	32613946	T	TG	criteria provided, single submitter	ClinGen:CA10605448
single nucleotide variant	NM_004006.3(DMD):c.6223C>T (p.Gln2075Ter)	DMD	Pathogenic	X	32305713	32305713	G	A	criteria provided, single submitter	ClinGen:CA10605510
Deletion	NM_004369.4(COL6A3):c.761del (p.Gly254fs)	COL6A3	Pathogenic/Likely pathogenic	2	238296776	238296776	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2189782
single nucleotide variant	NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)	DMD	Pathogenic	X	32429928	32429928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605586
Deletion	NM_004369.4(COL6A3):c.7542del (p.Phe2515fs)	COL6A3	Pathogenic	2	238253119	238253119	AG	A	criteria provided, single submitter	ClinGen:CA10605613
Indel	Single allele	DMD	Pathogenic	X	32472914	32472915	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp)	COL6A2	Likely pathogenic	21	47535933	47535933	G	A	criteria provided, single submitter	ClinGen:CA10605653
single nucleotide variant	NM_000426.4(LAMA2):c.7439+1G>A	LAMA2	Pathogenic	6	129794498	129794498	G	A	criteria provided, single submitter	ClinGen:CA10605757