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_004006.3(DMD):c.589G>T (p.Glu197Ter)	DMD	Pathogenic	X	32827670	32827670	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412673882
single nucleotide variant	NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)	SCN5A	Pathogenic/Likely pathogenic	3	38647562	38647562	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014532,UniProtKB:Q14524#VAR_055170
single nucleotide variant	NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys)	SCN5A	Pathogenic	3	38647562	38647562	G	C	criteria provided, single submitter	ClinGen:CA014540,UniProtKB:Q14524#VAR_055170
Deletion	NM_001267550.2(TTN):c.102788del (p.Pro34263fs)	TTN	Likely pathogenic	2	179398554	179398554	AG	A	criteria provided, single submitter	ClinGen:CA658657123
Duplication	NM_001267550.2(TTN):c.100558_100561dup (p.Gly33521fs)	TTN	Likely pathogenic	2	179400912	179400913	C	CCAGT	criteria provided, single submitter	ClinGen:CA658657125
single nucleotide variant	NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)	TTN	Pathogenic/Likely pathogenic	2	179411050	179411050	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349467635
single nucleotide variant	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN	Pathogenic/Likely pathogenic	2	179417257	179417257	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349511395
single nucleotide variant	NM_001267550.2(TTN):c.82350T>A (p.Tyr27450Ter)	TTN	Likely pathogenic	2	179428509	179428509	A	T	criteria provided, single submitter	ClinGen:CA349573978
single nucleotide variant	NM_001267550.2(TTN):c.80452G>T (p.Glu26818Ter)	TTN	Likely pathogenic	2	179430407	179430407	C	A	criteria provided, single submitter	ClinGen:CA349588714
Deletion	NM_001267550.2(TTN):c.78225del (p.Ala26076fs)	TTN	Likely pathogenic	2	179432634	179432634	CT	C	criteria provided, single submitter	ClinGen:CA658657138