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
Deletion	NM_000256.3(MYBPC3):c.2149-2del	MYBPC3	Pathogenic	11	47360232	47360232	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372895
Insertion	NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs)	TTN	Likely pathogenic	2	179412173	179412174	G	GCT	criteria provided, single submitter	ClinGen:CA658653757
Insertion	NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs)	TTN	Likely pathogenic	2	179412174	179412175	T	TCTAGA	criteria provided, single submitter	ClinGen:CA658653758
single nucleotide variant	NM_000256.3(MYBPC3):c.654+1G>A	MYBPC3	Pathogenic	11	47371324	47371324	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221706500
Deletion	NM_001267550.2(TTN):c.94371del (p.Glu31458fs)	TTN	Likely pathogenic	2	179411881	179411881	CT	C	criteria provided, single submitter	ClinGen:CA658657134
single nucleotide variant	NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)	TTN	Likely pathogenic	2	179435313	179435313	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349622093
single nucleotide variant	NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)	TTN	Pathogenic/Likely pathogenic	2	179451927	179451927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349446699
Duplication	NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)	TTN	Likely pathogenic	2	179505974	179505975	G	GT	criteria provided, single submitter	ClinGen:CA658657167
Deletion	NM_003673.4(TCAP):c.90_91del (p.Ser31fs)	TCAP	Likely pathogenic	17	37821701	37821702	CTG	C	criteria provided, single submitter	ClinGen:CA658656575
single nucleotide variant	NM_001267550.2(TTN):c.106375-2A>G	TTN	Pathogenic/Likely pathogenic	2	179394845	179394845	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349405662