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
single nucleotide variant	NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)	BAG3	Pathogenic	10	121429444	121429444	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294747
Deletion	NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs)	BAG3	Pathogenic	10	121436099	121436103	AGAGGT	A	criteria provided, single submitter	ClinGen:CA658797543
Indel	NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)	SCN5A	Pathogenic	3	38622497	38622508	CACAGCGATGGG	ACACAGTCAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA016864
Indel	NM_000335.5(SCN5A):c.3112delinsCCC (p.Thr1038fs)	SCN5A	Pathogenic	3	38622538	38622538	T	GGG	criteria provided, single submitter	ClinGen:CA307949
single nucleotide variant	NM_000335.5(SCN5A):c.2788-2A>G	SCN5A	Pathogenic	3	38622864	38622864	T	C	criteria provided, single submitter	ClinGen:CA016509
Duplication	NM_000335.5(SCN5A):c.2704_2705dup (p.Met903fs)	SCN5A	Pathogenic	3	38627263	38627264	G	GGT	criteria provided, single submitter	ClinGen:CA308148
Deletion	NM_000256.3(MYBPC3):c.3627+2del	MYBPC3	Pathogenic	11	47354115	47354115	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797619
single nucleotide variant	NM_000256.3(MYBPC3):c.3491-2A>C	MYBPC3	Likely pathogenic	11	47354255	47354255	T	G	criteria provided, single submitter	ClinGen:CA380312951
single nucleotide variant	NM_000256.3(MYBPC3):c.3331-1G>C	MYBPC3	Pathogenic/Likely pathogenic	11	47354525	47354525	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA380313881
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+1G>T	MYBPC3	Pathogenic/Likely pathogenic	11	47354744	47354744	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380314001