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
Duplication	NM_001267550.2(TTN):c.105753dup (p.Arg35252fs)	TTN	Likely pathogenic	2	179395588	179395589	G	GT	criteria provided, single submitter	ClinGen:CA351283,ClinVar:424806
single nucleotide variant	NM_000256.3(MYBPC3):c.2414-1G>A	MYBPC3	Likely pathogenic	11	47359131	47359131	C	T	criteria provided, single submitter	ClinGen:CA279034
single nucleotide variant	NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)	MYH7	Likely pathogenic	14	23897743	23897743	A	G	criteria provided, single submitter	ClinGen:CA278943
single nucleotide variant	NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)	DMD	Pathogenic/Likely pathogenic	X	32456429	32456429	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347462
single nucleotide variant	NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter)	DMD	Pathogenic	X	31187609	31187609	C	A	criteria provided, single submitter	ClinGen:CA347545
single nucleotide variant	NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter)	DMD	Pathogenic	X	31187701	31187701	A	C	criteria provided, single submitter	ClinGen:CA347580
single nucleotide variant	NM_004006.3(DMD):c.10223+1G>C	DMD	Pathogenic	X	31196785	31196785	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA347551
Deletion	NM_004006.3(DMD):c.10133del (p.Asn3378fs)	DMD	Pathogenic	X	31196876	31196876	GT	G	criteria provided, single submitter	ClinGen:CA347537
Duplication	NM_004006.3(DMD):c.9938_9941dup (p.Asn3314delinsLysTer)	DMD	Pathogenic	X	31200887	31200888	G	GTTAC	criteria provided, single submitter	ClinGen:CA347586
Duplication	NM_004006.3(DMD):c.9551dup (p.Asn3184fs)	DMD	Pathogenic	X	31227626	31227627	A	AT	criteria provided, single submitter	ClinGen:CA347501