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	NC_000002.11:g.(?_219135239)_(220290732_?)del	DES	Pathogenic	2	219135239	220290732	na	na	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.5282del (p.Ile1761fs)	SCN5A	Likely pathogenic	3	38592578	38592578	GA	G	criteria provided, single submitter	ClinGen:CA10588359
single nucleotide variant	NM_000335.5(SCN5A):c.467G>A (p.Trp156Ter)	SCN5A	Pathogenic	3	38663906	38663906	C	T	criteria provided, single submitter	ClinGen:CA10602880
single nucleotide variant	NM_000335.5(SCN5A):c.3619G>T (p.Glu1207Ter)	SCN5A	Pathogenic	3	38616832	38616832	C	A	criteria provided, single submitter	ClinGen:CA10602904
single nucleotide variant	NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter)	SCN5A	Likely pathogenic	3	38647525	38647525	G	A	criteria provided, single submitter	ClinGen:CA16043398
single nucleotide variant	NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)	TTN	Likely pathogenic	2	179397397	179397397	G	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs)	TTN	Likely pathogenic	2	179398623	179398624	GGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)	TTN	Likely pathogenic	2	179399614	179399614	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs)	TTN	Likely pathogenic	2	179400398	179400400	TCT	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.86354_86821+291del	TTN	Likely pathogenic	2	179423747	179424505	CTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACAT	C	criteria provided, single submitter	-