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.2541C>A (p.Tyr847Ter)	MYBPC3	Pathogenic	11	47359003	47359003	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012558
Duplication	NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47359259	47359260	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA012205
single nucleotide variant	NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter)	MYBPC3	Pathogenic	11	47362557	47362557	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011501
single nucleotide variant	NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	MYBPC3	Pathogenic/Likely pathogenic	11	47363542	47363542	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011138
single nucleotide variant	NM_000256.3(MYBPC3):c.1624+2T>C	MYBPC3	Pathogenic	11	47364127	47364127	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010761
single nucleotide variant	NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu)	MYBPC3	Likely pathogenic	11	47364248	47364248	C	A	criteria provided, single submitter	ClinGen:CA010518
single nucleotide variant	NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	MYBPC3	Pathogenic/Likely pathogenic	11	47364270	47364270	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010455
single nucleotide variant	NM_000256.3(MYBPC3):c.1457+5G>C	MYBPC3	Likely pathogenic	11	47364376	47364376	C	G	criteria provided, single submitter	ClinGen:CA010350
Deletion	NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)	MYBPC3	Pathogenic	11	47364480	47364481	AGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010169
single nucleotide variant	NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser)	MYBPC3	Likely pathogenic	11	47364580	47364580	A	G	criteria provided, single submitter	ClinGen:CA010132