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.9361+1G>A	DMD	Pathogenic	X	31241163	31241163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267188
single nucleotide variant	NM_004006.3(DMD):c.9361+1G>C	DMD	Pathogenic	X	31241163	31241163	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA267189
single nucleotide variant	NM_004006.3(DMD):c.9564-1G>A	DMD	Pathogenic/Likely pathogenic	X	31224785	31224785	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267190
single nucleotide variant	NM_004006.3(DMD):c.961-5831C>T	DMD	Pathogenic	X	32669100	32669100	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267191
single nucleotide variant	NM_004006.3(DMD):c.9650-2A>G	DMD	Pathogenic	X	31222237	31222237	T	C	criteria provided, single submitter	ClinGen:CA267192
Duplication	NM_004006.3(DMD):c.9767dup (p.Ser3257fs)	DMD	Pathogenic	X	31222117	31222118	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)	DMD	Pathogenic	X	31200978	31200978	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.9862G>T (p.Glu3288Ter)	DMD	Pathogenic	X	31200967	31200967	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267202
single nucleotide variant	NM_004369.4(COL6A3):c.6210+1G>A	COL6A3	Pathogenic	2	238269763	238269763	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222636,OMIM:120250.0004
single nucleotide variant	NM_004369.4(COL6A3):c.6282+1G>A	COL6A3	Pathogenic	2	238268730	238268730	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222638