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
Deletion	NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)	TTN	Likely pathogenic	2	179473007	179473034	AATAAGCCATCTACATTGGCTTTCAAGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610476
single nucleotide variant	NM_001267550.2(TTN):c.15496+1G>T	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610517
single nucleotide variant	NM_001927.4(DES):c.394C>T (p.Gln132Ter)	DES	Pathogenic	2	220283578	220283578	C	T	criteria provided, single submitter	ClinGen:CA16610670
Duplication	NM_000337.6(SGCD):c.74_77dup (p.Ile27fs)	SGCD	Pathogenic	5	155771566	155771567	A	AGGTG	criteria provided, single submitter	ClinGen:CA16611801
single nucleotide variant	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA	Pathogenic/Likely pathogenic	5	218472	218472	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611812
Deletion	NM_004168.4(SDHA):c.762_770+17del	SDHA	Pathogenic/Likely pathogenic	5	228439	228464	GTTGCCACAGGGTAGGAATCTCATTTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611876
single nucleotide variant	NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)	SDHA	Pathogenic/Likely pathogenic	5	230998	230998	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611878
Duplication	NM_004168.4(SDHA):c.1615dup (p.Ile539fs)	SDHA	Pathogenic	5	251166	251167	G	GA	criteria provided, single submitter	ClinGen:CA16611891
single nucleotide variant	NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)	SDHA	Pathogenic	5	233681	233681	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611943
single nucleotide variant	NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)	SDHA	Likely pathogenic	5	251555	251555	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3173350