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_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)	TTN	Likely pathogenic	2	179451276	179451276	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs)	TTN	Likely pathogenic	2	179456188	179456189	CAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)	TTN	Likely pathogenic	2	179456783	179456783	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.58568del (p.Gly19523fs)	TTN	Pathogenic/Likely pathogenic	2	179458459	179458459	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)	TTN	Pathogenic/Likely pathogenic	2	179464371	179464371	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)	TTN	Likely pathogenic	2	179466845	179466845	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)	TTN	Likely pathogenic	2	179474194	179474194	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.735+1G>T	DES	Pathogenic	2	220285069	220285069	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.514C>T (p.Gln172Ter)	DES	Pathogenic	2	220283698	220283698	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)	LMNA	Likely pathogenic	1	156084893	156084893	C	T	criteria provided, single submitter	-