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_001276345.2(TNNT2):c.382G>A (p.Glu128Lys)	TNNT2	Likely pathogenic	1	201334348	201334348	C	T	criteria provided, single submitter	ClinGen:CA004396
single nucleotide variant	NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	TNNT2	Pathogenic/Likely pathogenic	1	201333497	201333497	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004443
single nucleotide variant	NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)	TNNT2	Pathogenic	1	201333493	201333493	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004465
single nucleotide variant	NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)	TNNT2	Likely pathogenic	1	201333493	201333493	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004472
single nucleotide variant	NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)	TNNT2	Pathogenic/Likely pathogenic	1	201333485	201333485	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004479
single nucleotide variant	NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)	TNNT2	Pathogenic/Likely pathogenic	1	201332476	201332476	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004727
single nucleotide variant	NM_001276345.2(TNNT2):c.851+1G>A	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005196,OMIM:191045.0003
single nucleotide variant	NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)	RBM20	Pathogenic/Likely pathogenic	10	112581114	112581114	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA133338
single nucleotide variant	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES	Pathogenic	2	220283222	220283222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261520,UniProtKB:P17661#VAR_067208,OMIM:125660.0019
single nucleotide variant	NM_001927.4(DES):c.735+1G>A	DES	Pathogenic/Likely pathogenic	2	220285069	220285069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261522