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.506-2A>C	MYBPC3	Pathogenic	11	47371475	47371475	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015353
Deletion	NM_000256.3(MYBPC3):c.541_560del (p.Ala181fs)	MYBPC3	Pathogenic	11	47371420	47371439	AGGCGGCTTCAGGAGGCTGGC	A	criteria provided, single submitter	ClinGen:CA015445
Duplication	NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)	MYBPC3	Pathogenic	11	47371427	47371428	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA015464
single nucleotide variant	NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)	MYBPC3	Pathogenic	11	47371366	47371366	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015537
single nucleotide variant	NM_000256.3(MYBPC3):c.655-1G>A	MYBPC3	Pathogenic	11	47370093	47370093	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015661
single nucleotide variant	NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	MYBPC3	Pathogenic/Likely pathogenic	11	47370092	47370092	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015670,UniProtKB:Q14896#VAR_029393
single nucleotide variant	NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)	MYBPC3	Pathogenic	11	47370037	47370037	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015741,UniProtKB:Q14896#VAR_029395
single nucleotide variant	NM_000256.3(MYBPC3):c.772+1G>A	MYBPC3	Pathogenic	11	47369974	47369974	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015806
single nucleotide variant	NM_000256.3(MYBPC3):c.821+1G>A	MYBPC3	Pathogenic	11	47369407	47369407	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015883
single nucleotide variant	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3	Pathogenic/Likely pathogenic	11	47369975	47369975	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015823