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.357del (p.Ala120fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47372102	47372102	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351774
single nucleotide variant	NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47372853	47372853	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351921
Indel	NM_000256.3(MYBPC3):c.145_150delinsTGATGAG (p.Ile49_Ser50delinsTer)	MYBPC3	Likely pathogenic	11	47372932	47372937	GCTGAT	CTCATCA	criteria provided, single submitter	ClinGen:CA352122
Indel	NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)	MYH7	Likely pathogenic	14	23883014	23883017	GACT	A	criteria provided, single submitter	ClinGen:CA351898
single nucleotide variant	NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter)	TTN	Likely pathogenic	2	179605203	179605203	G	A	criteria provided, single submitter	ClinGen:CA353074
Deletion	NM_001267550.2(TTN):c.29062del (p.Ala9688fs)	TTN	Likely pathogenic	2	179571661	179571661	GC	G	criteria provided, single submitter	ClinGen:CA353020
Deletion	NM_001267550.2(TTN):c.41447del (p.Gly13816fs)	TTN	Likely pathogenic	2	179500851	179500851	GC	G	criteria provided, single submitter	ClinGen:CA353371
Deletion	NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer)	TTN	Likely pathogenic	2	179495983	179495983	AC	A	criteria provided, single submitter	ClinGen:CA353265
single nucleotide variant	NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter)	TTN	Likely pathogenic	2	179485525	179485525	A	C	criteria provided, single submitter	ClinGen:CA353342
single nucleotide variant	NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)	TTN	Likely pathogenic	2	179482115	179482115	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA090034