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_004168.4(SDHA):c.1A>T (p.Met1Leu)	SDHA	Pathogenic/Likely pathogenic	5	218471	218471	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042099
single nucleotide variant	NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	SDHA	Pathogenic/Likely pathogenic	5	240574	240574	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3173269
single nucleotide variant	NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)	TTN	Likely pathogenic	2	179422527	179422527	C	T	criteria provided, single submitter	ClinGen:CA16042363
Deletion	NM_001267550.2(TTN):c.75492del (p.Phe25165fs)	TTN	Likely pathogenic	2	179435367	179435367	AG	A	criteria provided, single submitter	ClinGen:CA16042365
Deletion	NM_001267550.2(TTN):c.44663del (p.Asn14888fs)	TTN	Likely pathogenic	2	179489344	179489344	AT	A	criteria provided, single submitter	ClinGen:CA16042366
single nucleotide variant	NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)	TTN	Pathogenic/Likely pathogenic	2	179400517	179400517	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042374
Deletion	NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs)	TTN	Pathogenic/Likely pathogenic	2	179430427	179430494	TCTGCTACCGCCATCATGTTCAGGTTTCTCCCACATAAGTGATGCACTGGTCTGGGACACATCAGTGAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042376
single nucleotide variant	NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)	TTN	Likely pathogenic	2	179396689	179396689	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042411
single nucleotide variant	NM_001267550.2(TTN):c.64972+1G>T	TTN	Likely pathogenic	2	179449395	179449395	C	A	criteria provided, single submitter	ClinGen:CA16042421
single nucleotide variant	NM_002880.4(RAF1):c.433A>C (p.Thr145Pro)	RAF1	Likely pathogenic	3	12650413	12650413	T	G	criteria provided, single submitter	ClinGen:CA16042457