肥大型心筋症 - MGenReviews

肥大型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_003673.4(TCAP):c.66G>A (p.Trp22Ter)	TCAP	Pathogenic/Likely pathogenic	17	37821678	37821678	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606859
Deletion	NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)	TTN	Pathogenic/Likely pathogenic	2	179412953	179412957	CAAGCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606880
single nucleotide variant	NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)	TTN	Pathogenic/Likely pathogenic	2	179396929	179396929	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1985430
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