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_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)	MYBPC3	Pathogenic	11	47367882	47367882	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016205
Deletion	NM_000256.3(MYBPC3):c.833del (p.Gly278fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47369220	47369220	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015921
single nucleotide variant	NM_000256.3(MYBPC3):c.821+1G>C	MYBPC3	Pathogenic	11	47369407	47369407	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015891
Deletion	NM_000256.3(MYBPC3):c.533del (p.Val178fs)	MYBPC3	Pathogenic	11	47371446	47371446	CA	C	criteria provided, single submitter	ClinGen:CA015433
single nucleotide variant	NM_000256.3(MYBPC3):c.505+5G>C	MYBPC3	Likely pathogenic	11	47371560	47371560	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015288
Duplication	NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs)	MYBPC3	Pathogenic/Likely pathogenic	11	47371603	47371604	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA015167
single nucleotide variant	NM_014000.3(VCL):c.1544-2A>G	VCL	Likely pathogenic	10	75855412	75855412	A	G	criteria provided, single submitter	ClinGen:CA273292
single nucleotide variant	NM_014000.3(VCL):c.1762C>T (p.Gln588Ter)	VCL	Likely pathogenic	10	75856980	75856980	C	T	criteria provided, single submitter	ClinGen:CA273521
single nucleotide variant	NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	MYH7	Likely pathogenic	14	23894055	23894055	C	G	reviewed by expert panel	ClinGen:CA012698
single nucleotide variant	NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly)	MYH7	Pathogenic/Likely pathogenic	14	23894114	23894114	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012584