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_170707.4(LMNA):c.949G>A (p.Glu317Lys)	LMNA	Pathogenic/Likely pathogenic	1	156105704	156105704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018878,UniProtKB:P02545#VAR_039775
Deletion	NM_170707.4(LMNA):c.958del (p.Leu320fs)	LMNA	Pathogenic	1	156105713	156105713	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018896
single nucleotide variant	NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	LMNA	Pathogenic	1	156105716	156105716	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018909
Deletion	NM_000337.6(SGCD):c.390del (p.Ala131fs)	SGCD	Pathogenic/Likely pathogenic	5	156021946	156021946	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344697
single nucleotide variant	NM_001927.4(DES):c.1289-2A>G	DES	Pathogenic/Likely pathogenic	2	220290383	220290383	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA144512,OMIM:125660.0018
copy number gain	GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2	DMD	Pathogenic	X	32680483	32777081	na	na	criteria provided, single submitter	dbVar:nssv579207
single nucleotide variant	NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)	PRDM16	Pathogenic	1	3328865	3328865	A	T	criteria provided, single submitter	ClinGen:CA144642,OMIM:605557.0001
Duplication	NM_022114.4(PRDM16):c.1573dup (p.Arg525fs)	PRDM16	Pathogenic	1	3328329	3328330	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602802,OMIM:605557.0002
single nucleotide variant	NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe)	MYBPC3	Likely pathogenic	11	47353646	47353646	C	A	criteria provided, single submitter	ClinGen:CA014908,UniProtKB:Q14896#VAR_070455,OMIM:600958.0025
single nucleotide variant	NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	LMNA	Pathogenic/Likely pathogenic	1	156104600	156104600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018372,UniProtKB:P02545#VAR_039768