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_000256.3(MYBPC3):c.410C>G (p.Ser137Ter)	MYBPC3	Pathogenic	11	47371660	47371660	G	C	criteria provided, single submitter	ClinGen:CA015042
Deletion	NM_000256.3(MYBPC3):c.324del (p.Ala109fs)	MYBPC3	Pathogenic	11	47372135	47372135	CA	C	criteria provided, single submitter	ClinGen:CA013720
single nucleotide variant	NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter)	MYBPC3	Pathogenic	11	47372845	47372845	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012155
Deletion	NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer)	MYBPC3	Pathogenic	11	47372845	47372845	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012163
single nucleotide variant	NM_000256.3(MYBPC3):c.235T>A (p.Tyr79Asn)	MYBPC3	Likely pathogenic	11	47372847	47372847	A	T	criteria provided, single submitter	ClinGen:CA012128
single nucleotide variant	NM_000256.3(MYBPC3):c.230G>A (p.Gly77Glu)	MYBPC3	Likely pathogenic	11	47372852	47372852	C	T	criteria provided, single submitter	ClinGen:CA012059
Deletion	NM_000256.3(MYBPC3):c.182del (p.Gly61fs)	MYBPC3	Pathogenic	11	47372900	47372900	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011301
Deletion	NM_000256.3(MYBPC3):c.172del (p.Ala58fs)	MYBPC3	Pathogenic	11	47372910	47372910	GC	G	criteria provided, single submitter	ClinGen:CA011009
single nucleotide variant	NM_000432.4(MYL2):c.496G>T (p.Asp166Tyr)	MYL2	Likely pathogenic	12	111348886	111348886	C	A	criteria provided, single submitter	ClinGen:CA010463
Deletion	NM_000257.4(MYH7):c.5659del (p.Glu1887fs)	MYH7	Likely pathogenic	14	23883099	23883099	TC	T	criteria provided, single submitter	ClinGen:CA016354