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
Duplication	NM_001848.3(COL6A1):c.2160dup (p.Asn721fs)	COL6A1	Pathogenic	21	47422224	47422225	A	AC	criteria provided, single submitter	ClinGen:CA638497715
single nucleotide variant	NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)	POMT2	Pathogenic	14	77769195	77769195	G	T	criteria provided, single submitter	ClinGen:CA7286143
single nucleotide variant	NM_001848.3(COL6A1):c.2435-2A>G	COL6A1	Pathogenic/Likely pathogenic	21	47423032	47423032	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321979770
single nucleotide variant	NM_001849.4(COL6A2):c.1180-1G>C	COL6A2	Pathogenic	21	47538943	47538943	G	C	criteria provided, single submitter	ClinGen:CA410529718
single nucleotide variant	NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)	LMNA	Pathogenic	1	156106997	156106997	A	C	criteria provided, single submitter	ClinGen:CA342823494
Deletion	NM_004006.3(DMD):c.3276+2del	DMD	Pathogenic/Likely pathogenic	X	32482701	32482701	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799653
Deletion	NM_004006.3(DMD):c.5334del (p.Pro1779fs)	DMD	Pathogenic	X	32366637	32366637	GA	G	criteria provided, single submitter	ClinGen:CA658799690
Deletion	NM_004006.3(DMD):c.6665_6668del (p.Glu2222fs)	DMD	Pathogenic	X	31950291	31950294	AAATT	A	criteria provided, single submitter	ClinGen:CA658799674
single nucleotide variant	NM_004006.3(DMD):c.8937+1G>T	DMD	Pathogenic	X	31496222	31496222	C	A	criteria provided, single submitter	ClinGen:CA412653829
single nucleotide variant	NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter)	LAMA2	Pathogenic	6	129813539	129813539	G	T	criteria provided, single submitter	ClinGen:CA365631453