特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.265-2A>G	DMD	Pathogenic	X	32841506	32841506	T	C	criteria provided, single submitter	ClinGen:CA347571
single nucleotide variant	NM_004006.3(DMD):c.94-1G>A	DMD	Pathogenic	X	32867938	32867938	C	T	criteria provided, single submitter	ClinGen:CA347590
single nucleotide variant	NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)	CRYAB	Pathogenic	11	111781055	111781055	C	A	criteria provided, single submitter	ClinGen:CA250008
single nucleotide variant	NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr)	TNNT2	Likely pathogenic	1	201331098	201331098	A	G	criteria provided, single submitter	ClinGen:CA279262
single nucleotide variant	NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr)	VCL	Likely pathogenic	10	75854207	75854207	G	T	criteria provided, single submitter	ClinGen:CA279267
Deletion	NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47353775	47353775	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279321
Duplication	NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs)	MYBPC3	Likely pathogenic	11	47354440	47354441	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA279290
single nucleotide variant	NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47354775	47354775	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279299
Duplication	NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs)	MYBPC3	Likely pathogenic	11	47357494	47357495	G	GC	criteria provided, single submitter	ClinGen:CA279270
Deletion	NM_000256.3(MYBPC3):c.2550del (p.Asn850fs)	MYBPC3	Likely pathogenic	11	47358994	47358994	CG	C	criteria provided, single submitter	ClinGen:CA279283