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_000257.4(MYH7):c.2104A>G (p.Ile702Val)	MYH7	Likely pathogenic	14	23895231	23895231	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279302
single nucleotide variant	NM_000257.4(MYH7):c.1479G>C (p.Met493Ile)	MYH7	Likely pathogenic	14	23897808	23897808	C	G	criteria provided, single submitter	ClinGen:CA277680
single nucleotide variant	NM_000257.4(MYH7):c.755T>G (p.Phe252Cys)	MYH7	Likely pathogenic	14	23900668	23900668	A	C	criteria provided, single submitter	ClinGen:CA277662
Deletion	NM_000256.3(MYBPC3):c.1359del (p.Val454fs)	MYBPC3	Pathogenic	11	47364479	47364479	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279624
single nucleotide variant	NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter)	MYBPC3	Pathogenic	11	47364621	47364621	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA044146
Duplication	NM_002471.4(MYH6):c.3193dup (p.Gln1065fs)	MYH6	Pathogenic	14	23862178	23862179	T	TG	criteria provided, single submitter	ClinGen:CA279617
Deletion	NM_170707.4(LMNA):c.91_93del (p.Glu31del)	LMNA	Pathogenic	1	156084798	156084800	CAGG	C	criteria provided, single submitter	ClinGen:CA277863
single nucleotide variant	NM_000256.3(MYBPC3):c.906-36G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47368616	47368616	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349273
Deletion	NM_000256.3(MYBPC3):c.162del (p.Lys54fs)	MYBPC3	Pathogenic	11	47372920	47372920	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348352
single nucleotide variant	NM_000257.4(MYH7):c.1615A>C (p.Met539Leu)	MYH7	Likely pathogenic	14	23897067	23897067	T	G	criteria provided, single submitter	ClinGen:CA349239