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
Duplication	NC_000023.10:g.(?_32305646)_(32328393_?)dup	DMD	Pathogenic	X	32305646	32328393	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31496788)_(31875373_?)del	DMD	Pathogenic	X	31514905	31893490	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31657990)_(31820083_?)del	DMD	Pathogenic	X	31676107	31838200	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32583819)_(32632570_?)dup	DMD	Pathogenic	X	32583819	32632570	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32573530)_(32699293_?)del	DMD	Pathogenic	X	32591647	32717410	na	na	criteria provided, single submitter	-
Deletion	NM_001159699.2(FHL1):c.108del (p.Gln37fs)	FHL1	Pathogenic	X	135288651	135288651	TG	T	criteria provided, single submitter	ClinGen:CA16616433
Duplication	NM_004006.3(DMD):c.9040dup (p.Leu3014fs)	DMD	Pathogenic	X	31462641	31462642	A	AG	criteria provided, single submitter	ClinGen:CA16616474
Deletion	NM_004006.3(DMD):c.9650-4_9655del	DMD	Likely pathogenic	X	31222230	31222239	AAAAGGTCTAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616478
Deletion	NM_004006.3(DMD):c.9287-27_9287-2del	DMD	Likely pathogenic	X	31241240	31241265	CTGAAAAGAGGGAAAACAAAGAGCATT	C	criteria provided, single submitter	ClinGen:CA16616481
Deletion	NM_004006.3(DMD):c.9238_9241del (p.Thr3080fs)	DMD	Pathogenic	X	31279117	31279120	GTTGT	G	criteria provided, single submitter	ClinGen:CA16616482