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.1224-19G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47364832	47364832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009912,OMIM:600958.0016
Deletion	NM_004168.4(SDHA):c.667del (p.Asp223fs)	SDHA	Pathogenic/Likely pathogenic	5	228344	228344	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166673
single nucleotide variant	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA	Pathogenic/Likely pathogenic	5	223624	223624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168793,OMIM:600857.0008
single nucleotide variant	NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro)	MYH7	Likely pathogenic	14	23885331	23885331	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015395
single nucleotide variant	NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)	MYH7	Pathogenic/Likely pathogenic	14	23885229	23885229	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015466
Deletion	NM_170707.4(LMNA):c.1086del (p.Leu363fs)	LMNA	Pathogenic	1	156105840	156105840	CT	C	criteria provided, single submitter	ClinGen:CA016573
single nucleotide variant	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47355103	47355103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013639
single nucleotide variant	NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	MYH7	Pathogenic	14	23891476	23891476	C	T	reviewed by expert panel	ClinGen:CA013417
Deletion	NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs)	TTN	Likely pathogenic	2	179445128	179445131	ATTTG	A	criteria provided, single submitter	ClinGen:CA345901
single nucleotide variant	NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)	BAG3	Pathogenic	10	121431885	121431885	C	A	criteria provided, single submitter	ClinGen:CA170913,OMIM:603883.0010