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_000258.3(MYL3):c.447G>T (p.Met149Ile)	MYL3	Likely pathogenic	3	46900999	46900999	C	A	criteria provided, single submitter	ClinGen:CA013830
single nucleotide variant	NM_003280.3(TNNC1):c.290T>A (p.Leu97Gln)	TNNC1	Likely pathogenic	3	52485787	52485787	A	T	criteria provided, single submitter	ClinGen:CA297319
single nucleotide variant	NM_003280.3(TNNC1):c.8A>T (p.Asp3Val)	TNNC1	Likely pathogenic	3	52488024	52488024	T	A	criteria provided, single submitter	ClinGen:CA297337
single nucleotide variant	NM_033337.3(CAV3):c.251T>C (p.Leu84Pro)	CAV3	Likely pathogenic	3	8787348	8787348	T	C	criteria provided, single submitter	ClinGen:CA295938
single nucleotide variant	NM_000256.3(MYBPC3):c.3775C>T (p.Gln1259Ter)	MYBPC3	Likely pathogenic	11	47353662	47353662	G	A	criteria provided, single submitter	ClinGen:CA014855
single nucleotide variant	NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353664	47353664	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014846
single nucleotide variant	NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353705	47353705	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014689
single nucleotide variant	NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro)	MYBPC3	Likely pathogenic	11	47353724	47353724	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014684
single nucleotide variant	NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter)	MYBPC3	Pathogenic	11	47353773	47353773	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014571
single nucleotide variant	NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter)	MYBPC3	Pathogenic	11	47353796	47353796	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014541