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_000447.3(PSEN2):c.422A>T (p.Asn141Ile)	PSEN2	Pathogenic	1	227073304	227073304	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224953,UniProtKB:P49810#VAR_006462,OMIM:600759.0001
single nucleotide variant	NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)	PSEN2	Pathogenic/Likely pathogenic	1	227073246	227073246	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224950,UniProtKB:P49810#VAR_009214,OMIM:600759.0005
single nucleotide variant	NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)	TNNT2	Pathogenic	1	201334766	201334766	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004157,OMIM:191045.0001
single nucleotide variant	NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)	TNNT2	Pathogenic/Likely pathogenic	1	201334425	201334425	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004273,OMIM:191045.0002
single nucleotide variant	NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)	TNNT2	Pathogenic	1	201334372	201334372	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004383,UniProtKB:P45379#VAR_007607,OMIM:191045.0005
single nucleotide variant	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2	Pathogenic	1	201333464	201333464	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004526,UniProtKB:P45379#VAR_016198,OMIM:191045.0007
single nucleotide variant	NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	TNNT2	Pathogenic/Likely pathogenic	1	201333494	201333494	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090410,OMIM:191045.0008
single nucleotide variant	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	LMNA	Pathogenic	1	156084725	156084725	C	T	criteria provided, single submitter	ClinGen:CA017675,OMIM:150330.0001
single nucleotide variant	NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	LMNA	Pathogenic/Likely pathogenic	1	156106204	156106204	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017033,UniProtKB:P02545#VAR_009988,OMIM:150330.0002
single nucleotide variant	NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	LMNA	Pathogenic	1	156106995	156106995	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003