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_000256.3(MYBPC3):c.1227-1G>T	MYBPC3	Likely pathogenic	11	47364697	47364697	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)	TTN	Likely pathogenic	2	179399389	179399389	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.94729G>T (p.Gly31577Ter)	TTN	Likely pathogenic	2	179411426	179411426	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.91035G>A (p.Trp30345Ter)	TTN	Likely pathogenic	2	179416592	179416592	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	TTN	Pathogenic/Likely pathogenic	2	179427755	179427755	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter)	TTN	Likely pathogenic	2	179428311	179428311	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)	TTN	Likely pathogenic	2	179429209	179429209	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)	TTN	Likely pathogenic	2	179432533	179432533	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)	TTN	Pathogenic/Likely pathogenic	2	179440145	179440145	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter)	TTN	Likely pathogenic	2	179444405	179444405	G	A	criteria provided, single submitter	-