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_001927.4(DES):c.137C>A (p.Ser46Tyr)	DES	Likely pathogenic	2	220283321	220283321	C	A	criteria provided, single submitter	ClinGen:CA217053,UniProtKB:P17661#VAR_042450
single nucleotide variant	NM_001927.4(DES):c.347A>G (p.Asn116Ser)	DES	Pathogenic/Likely pathogenic	2	220283531	220283531	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217067,UniProtKB:P17661#VAR_069191
single nucleotide variant	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES	Pathogenic/Likely pathogenic	2	220283219	220283219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217069
single nucleotide variant	NM_001927.4(DES):c.735+3A>G	DES	Pathogenic	2	220285071	220285071	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217084,OMIM:125660.0008
single nucleotide variant	NM_001927.4(DES):c.735G>C (p.Glu245Asp)	DES	Pathogenic/Likely pathogenic	2	220285068	220285068	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217085,UniProtKB:P17661#VAR_042452
single nucleotide variant	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105800	156105800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016479
single nucleotide variant	NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)	LMNA	Pathogenic	1	156105818	156105818	C	T	criteria provided, single submitter	ClinGen:CA016527
single nucleotide variant	NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)	LMNA	Pathogenic	1	156105836	156105836	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016566,UniProtKB:P02545#VAR_064970
Deletion	NM_170707.4(LMNA):c.1114del (p.Glu372fs)	LMNA	Pathogenic	1	156105868	156105868	TG	T	criteria provided, single submitter	ClinGen:CA016624
single nucleotide variant	NM_170707.4(LMNA):c.1157+1G>A	LMNA	Pathogenic/Likely pathogenic	1	156105913	156105913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016716