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.80547T>G (p.Tyr26849Ter)	TTN	Likely pathogenic	2	179430312	179430312	A	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)	TTN	Likely pathogenic	2	179430117	179430123	TGACCCAA	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.81323del (p.His27108fs)	TTN	Likely pathogenic	2	179429536	179429536	AT	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.81718del (p.Arg27240fs)	TTN	Likely pathogenic	2	179429141	179429141	CT	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.82226del (p.Lys27409fs)	TTN	Likely pathogenic	2	179428633	179428633	CT	C	criteria provided, single submitter	-
Insertion	NM_001267550.2(TTN):c.82684_82685insSVAelement	TTN	Likely pathogenic	2	179428174	179428175	na	na	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)	TTN	Likely pathogenic	2	179427023	179427029	CACTTCT	AGTGA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)	TTN	Pathogenic	2	179426040	179426040	C	T	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.85519dup (p.Met28507fs)	TTN	Likely pathogenic	2	179425339	179425340	A	AT	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.85860del (p.Glu28620fs)	TTN	Likely pathogenic	2	179424999	179424999	AT	A	criteria provided, single submitter	-