肥大型心筋症 - MGenReviews

肥大型心筋症

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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.317del (p.Pro106fs)	MYBPC3	Pathogenic	11	47372142	47372142	AG	A	criteria provided, single submitter	ClinGen:CA658658054
single nucleotide variant	NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter)	MYBPC3	Pathogenic	11	47359032	47359032	C	A	criteria provided, single submitter	ClinGen:CA380318215
single nucleotide variant	NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)	MYBPC3	Pathogenic/Likely pathogenic	11	47367758	47367758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221700759
Duplication	NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs)	MYBPC3	Pathogenic	11	47372150	47372151	C	CATGG	criteria provided, single submitter	ClinGen:CA658658055
Deletion	NM_000256.3(MYBPC3):c.2568del (p.Arg856fs)	MYBPC3	Pathogenic	11	47358976	47358976	GC	G	criteria provided, single submitter	ClinGen:CA658656137
Duplication	NM_000256.3(MYBPC3):c.506-3_506dup	MYBPC3	Pathogenic	11	47371472	47371473	A	ACCTG	criteria provided, single submitter	ClinGen:CA658658053
single nucleotide variant	NM_000257.4(MYH7):c.4135G>T (p.Ala1379Ser)	MYH7	Likely pathogenic	14	23887453	23887453	C	A	criteria provided, single submitter	ClinGen:CA389040813
single nucleotide variant	NM_000257.4(MYH7):c.2333A>T (p.Asp778Val)	MYH7	Pathogenic	14	23894581	23894581	T	A	criteria provided, single submitter	ClinGen:CA389048628
single nucleotide variant	NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro)	MYH7	Pathogenic/Likely pathogenic	14	23893327	23893327	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257819011
single nucleotide variant	NM_000257.4(MYH7):c.2555T>G (p.Met852Arg)	MYH7	Likely pathogenic	14	23894102	23894102	A	C	criteria provided, single submitter	ClinGen:CA389048167