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
single nucleotide variant	NM_000256.3(MYBPC3):c.3627+1G>A	MYBPC3	Pathogenic	11	47354116	47354116	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014514
Deletion	NM_000256.3(MYBPC3):c.362del (p.Pro121fs)	MYBPC3	Pathogenic	11	47372097	47372097	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014531
single nucleotide variant	NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353743	47353743	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014642
single nucleotide variant	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353740	47353740	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014648
Deletion	NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47353702	47353702	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014698
single nucleotide variant	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353626	47353626	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014956
Deletion	NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs)	MYBPC3	Pathogenic	11	47371638	47371639	GAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015073
Duplication	NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)	MYBPC3	Pathogenic	11	47371633	47371634	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA015079
Deletion	NM_000256.3(MYBPC3):c.459del (p.Ile154fs)	MYBPC3	Pathogenic	11	47371611	47371611	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015155
single nucleotide variant	NM_000256.3(MYBPC3):c.506-1G>T	MYBPC3	Pathogenic	11	47371474	47371474	C	A	criteria provided, single submitter	ClinGen:CA015338