特発性拡張型心筋症

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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
Deletion	NC_000023.11:g.(?_32573530)_(32699293_?)del	DMD	Pathogenic	X	32591647	32717410	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_004006.3(DMD):c.8209C>T (p.Gln2737Ter)	DMD	Pathogenic	X	31645798	31645798	G	A	criteria provided, single submitter	ClinGen:CA16616487
single nucleotide variant	NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)	DMD	Pathogenic	X	32382743	32382743	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616488
single nucleotide variant	NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)	DMD	Pathogenic	X	32383304	32383304	C	A	criteria provided, single submitter	ClinGen:CA16616490
Indel	NM_004006.3(DMD):c.7241_7243delinsGTTT (p.Asn2414fs)	DMD	Pathogenic	X	31838158	31838160	GGT	AAAC	criteria provided, single submitter	ClinGen:CA16616492
Deletion	NM_004006.3(DMD):c.7068_7069del (p.Gln2356fs)	DMD	Pathogenic	X	31893334	31893335	GGT	G	criteria provided, single submitter	ClinGen:CA16616493