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
single nucleotide variant	NM_004006.3(DMD):c.6615-2A>T	DMD	Pathogenic	X	31950346	31950346	T	A	criteria provided, single submitter	ClinGen:CA412658438
Deletion	NM_004006.3(DMD):c.5613_5640del (p.Lys1871fs)	DMD	Pathogenic	X	32361350	32361377	GATACCACTGATGAGAAATTTCTAGAGCC	G	criteria provided, single submitter	ClinGen:CA658658961
single nucleotide variant	NM_004006.3(DMD):c.2804-1G>T	DMD	Pathogenic	X	32490427	32490427	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412668289
single nucleotide variant	NM_004006.3(DMD):c.686T>G (p.Leu229Ter)	DMD	Pathogenic	X	32717374	32717374	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412669106
single nucleotide variant	NM_001849.4(COL6A2):c.115+2T>C	COL6A2	Pathogenic/Likely pathogenic	21	47531507	47531507	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10071178
single nucleotide variant	NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg)	COL6A2	Pathogenic	21	47535941	47535941	G	C	criteria provided, single submitter	ClinGen:CA410525191
single nucleotide variant	NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)	COL6A2	Pathogenic	21	47545731	47545731	G	T	criteria provided, single submitter	ClinGen:CA410539722
Deletion	NC_000023.11:g.(?_31348536)_(31479123_?)del	DMD	Pathogenic	X	31366653	31497240	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31836698)_(31875393_?)del	DMD	Pathogenic	X	31854815	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31875168)_(31932247_?)del	DMD	Pathogenic	X	31893285	31950364	na	na	criteria provided, single submitter	-