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_001267550.2(TTN):c.69367G>T (p.Gly23123Ter)	TTN	Likely pathogenic	2	179441695	179441695	C	A	criteria provided, single submitter	ClinGen:CA349668893
single nucleotide variant	NM_001267550.2(TTN):c.50619G>A (p.Trp16873Ter)	TTN	Likely pathogenic	2	179476337	179476337	C	T	criteria provided, single submitter	ClinGen:CA349595023
single nucleotide variant	NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	SCN5A	Pathogenic	3	38601661	38601661	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017985,UniProtKB:Q14524#VAR_017681,OMIM:600163.0026
single nucleotide variant	NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)	SCN5A	Pathogenic	3	38607917	38607917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017530,UniProtKB:Q14524#VAR_026373,OMIM:600163.0034
single nucleotide variant	NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)	SCN5A	Pathogenic/Likely pathogenic	3	38595800	38595800	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018558,OMIM:600163.0039
single nucleotide variant	NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)	SCN5A	Likely pathogenic	3	38593004	38593004	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:440848,ClinGen:CA018653,UniProtKB:Q14524#VAR_017684,OMIM:600163.0004
single nucleotide variant	NM_000256.3(MYBPC3):c.2906-1G>C	MYBPC3	Likely pathogenic	11	47355562	47355562	C	G	criteria provided, single submitter	ClinGen:CA380316055
single nucleotide variant	NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter)	MYBPC3	Pathogenic	11	47357446	47357446	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380317087
single nucleotide variant	NM_000256.3(MYBPC3):c.2602+2T>G	MYBPC3	Likely pathogenic	11	47358940	47358940	A	C	criteria provided, single submitter	ClinGen:CA380317943
Indel	NM_000256.3(MYBPC3):c.1823_1830delinsA (p.Pro608fs)	MYBPC3	Pathogenic	11	47362756	47362763	GTCGGCAG	T	criteria provided, single submitter	ClinGen:CA645372896