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.665G>A (p.Arg222Gln)	SCN5A	Pathogenic	3	38655272	38655272	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019704,UniProtKB:Q14524#VAR_074332,OMIM:600163.0046
Deletion	NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)	LMNA	Likely pathogenic	1	156100515	156100529	AAGCGCACGCTGGAGG	A	criteria provided, single submitter	ClinGen:CA645372476
single nucleotide variant	NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)	LMNA	Pathogenic	1	156104999	156104999	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA342817513
Deletion	NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)	LMNA	Pathogenic	1	156105005	156105010	GAGGAAC	G	criteria provided, single submitter	ClinGen:CA645372479
single nucleotide variant	NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)	LMNA	Likely pathogenic	1	156105872	156105872	A	T	criteria provided, single submitter	ClinGen:CA342820510
single nucleotide variant	NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	LMNA	Likely pathogenic	1	156106010	156106010	G	C	criteria provided, single submitter	ClinGen:CA342820778
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
Deletion	NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs)	MYBPC3	Pathogenic	11	47354185	47354185	AG	A	criteria provided, single submitter	ClinGen:CA645372894
Deletion	NM_000256.3(MYBPC3):c.2149-2del	MYBPC3	Pathogenic	11	47360232	47360232	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372895
single nucleotide variant	NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile)	SCN5A	Likely pathogenic	3	38648242	38648242	G	A	criteria provided, single submitter	ClinGen:CA014257,UniProtKB:Q14524#VAR_055168