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.1150-1G>A	DMD	Pathogenic	X	32662431	32662431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605293
single nucleotide variant	NM_001849.4(COL6A2):c.865G>T (p.Gly289Cys)	COL6A2	Pathogenic	21	47535932	47535932	G	T	criteria provided, single submitter	ClinGen:CA10605315
Duplication	NM_004006.3(DMD):c.175_179dup (p.Lys61fs)	DMD	Pathogenic	X	32867851	32867852	T	TTGCCC	criteria provided, single submitter	ClinGen:CA10605339
Deletion	NM_001848.3(COL6A1):c.1039_1052del (p.Lys346_Gly347insTer)	COL6A1	Pathogenic	21	47410723	47410736	GGGCTCGCCCGGGTT	G	criteria provided, single submitter	ClinGen:CA10605343
single nucleotide variant	NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)	COL6A1	Pathogenic	21	47410705	47410705	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605376
single nucleotide variant	NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)	COL6A2	Pathogenic/Likely pathogenic	21	47535822	47535822	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605378
single nucleotide variant	NM_004006.3(DMD):c.1482+1G>C	DMD	Pathogenic	X	32632419	32632419	C	G	criteria provided, single submitter	ClinGen:CA10605379
single nucleotide variant	NM_001848.3(COL6A1):c.1003-1G>A	COL6A1	Pathogenic	21	47410686	47410686	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605388
single nucleotide variant	NM_001849.4(COL6A2):c.801+1G>T	COL6A2	Pathogenic	21	47533988	47533988	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605400
Deletion	NM_004006.3(DMD):c.4550_4556del (p.Ser1517fs)	DMD	Pathogenic	X	32404545	32404551	CACTTCAG	C	criteria provided, single submitter	ClinGen:CA10605413