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_004369.4(COL6A3):c.4124del (p.Gln1375fs)	COL6A3	Pathogenic	2	238280536	238280536	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604256
single nucleotide variant	NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)	DMD	Pathogenic	X	31187636	31187636	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604314
single nucleotide variant	NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)	DMD	Pathogenic	X	32632485	32632485	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604318
Duplication	NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)	FKRP	Pathogenic	19	47258867	47258868	C	CGGGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604327
single nucleotide variant	NM_000426.4(LAMA2):c.396+1G>T	LAMA2	Pathogenic	6	129381042	129381042	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3992309
Duplication	NM_000426.4(LAMA2):c.444dup (p.Pro149fs)	LAMA2	Pathogenic	6	129419363	129419364	C	CG	criteria provided, single submitter	ClinGen:CA3992341
single nucleotide variant	NM_001849.4(COL6A2):c.920G>T (p.Gly307Val)	COL6A2	Likely pathogenic	21	47536310	47536310	G	T	criteria provided, single submitter	ClinGen:CA10604376
single nucleotide variant	NM_004006.3(DMD):c.93+1G>A	DMD	Pathogenic	X	33038255	33038255	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604467
Deletion	NM_004006.3(DMD):c.1387_1408del (p.Trp463fs)	DMD	Pathogenic	X	32632494	32632515	CTTTCTTCTGTTTTTGTTAGCCA	C	criteria provided, single submitter	ClinGen:CA10604478
single nucleotide variant	NM_004006.3(DMD):c.2168+2T>G	DMD	Pathogenic	X	32563274	32563274	A	C	criteria provided, single submitter	ClinGen:CA10604481