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_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly)	SCN5A	Pathogenic	3	38592494	38592494	T	C	criteria provided, single submitter	ClinGen:CA019174
single nucleotide variant	NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr)	SCN5A	Likely pathogenic	3	38592239	38592239	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019394,UniProtKB:Q14524#VAR_055216
single nucleotide variant	NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38655264	38655264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019714,UniProtKB:Q14524#VAR_055164
single nucleotide variant	NM_000335.5(SCN5A):c.845G>A (p.Arg282His)	SCN5A	Pathogenic/Likely pathogenic	3	38651314	38651314	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019849,UniProtKB:Q14524#VAR_026348
single nucleotide variant	NM_000335.5(SCN5A):c.3960+1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38603905	38603905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017659
single nucleotide variant	NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter)	MYBPC3	Pathogenic	11	47359018	47359018	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA380318188
single nucleotide variant	NM_000256.3(MYBPC3):c.2391C>G (p.Tyr797Ter)	MYBPC3	Pathogenic	11	47359263	47359263	G	C	criteria provided, single submitter	ClinGen:CA380318667
single nucleotide variant	NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)	MYBPC3	Pathogenic	11	47364620	47364620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380327136
single nucleotide variant	NM_000256.3(MYBPC3):c.165C>A (p.Tyr55Ter)	MYBPC3	Likely pathogenic	11	47372917	47372917	G	T	criteria provided, single submitter	ClinGen:CA380341794
single nucleotide variant	NM_004006.3(DMD):c.7310-1G>A	DMD	Pathogenic	X	31792310	31792310	C	T	criteria provided, single submitter	ClinGen:CA412659203