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.1812+2T>A	DMD	Pathogenic	X	32591645	32591645	A	T	criteria provided, single submitter	ClinGen:CA412673061
Deletion	NM_182961.4(SYNE1):c.639del (p.His214fs)	SYNE1	Pathogenic/Likely pathogenic	6	152826475	152826475	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA571149263
single nucleotide variant	NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)	DMD	Pathogenic	X	31854876	31854876	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412659306
Indel	NM_004006.3(DMD):c.3433-2_3433-1delinsCC	DMD	Pathogenic	X	32472950	32472951	CT	GG	criteria provided, single submitter	ClinGen:CA658799648
single nucleotide variant	NM_182961.4(SYNE1):c.21052G>T (p.Glu7018Ter)	SYNE1	Pathogenic	6	152551825	152551825	C	A	criteria provided, single submitter	ClinGen:CA366113170
single nucleotide variant	NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)	POMT1	Pathogenic	9	134387431	134387431	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA375308747
Deletion	NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs)	DMD	Pathogenic	X	32481675	32481679	AGACTG	A	criteria provided, single submitter	ClinGen:CA658799652
single nucleotide variant	NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser)	COL6A2	Likely pathogenic	21	47535822	47535822	G	A	criteria provided, single submitter	ClinGen:CA410524806
Duplication	NM_004006.3(DMD):c.595_598dup (p.Phe200fs)	DMD	Pathogenic	X	32827660	32827661	A	AATGC	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.8066_8070del (p.Arg2689fs)	DMD	Pathogenic	X	31645937	31645941	GTAATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799641