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.1457G>A (p.Trp486Ter)	MYBPC3	Pathogenic	11	47364381	47364381	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010361
single nucleotide variant	NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter)	MYBPC3	Pathogenic	11	47364391	47364391	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000256.3(MYBPC3):c.1410_1411del (p.Val471fs)	MYBPC3	Pathogenic	11	47364427	47364428	ACC	A	criteria provided, single submitter	ClinGen:CA010266
single nucleotide variant	NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter)	MYBPC3	Pathogenic	11	47364433	47364433	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010259
single nucleotide variant	NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter)	MYBPC3	Pathogenic	11	47364451	47364451	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010230
Duplication	NM_000256.3(MYBPC3):c.1358dup (p.Val454fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364479	47364480	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA279328
Deletion	NM_000256.3(MYBPC3):c.1316del (p.Gly439fs)	MYBPC3	Pathogenic	11	47364607	47364607	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter)	MYBPC3	Pathogenic	11	47364671	47364671	T	A	criteria provided, single submitter	ClinGen:CA009986
single nucleotide variant	NM_000256.3(MYBPC3):c.1227-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47364698	47364698	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009954
single nucleotide variant	NM_000256.3(MYBPC3):c.1223+2T>G	MYBPC3	Pathogenic	11	47365041	47365041	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009906