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.1351+2T>C	MYBPC3	Pathogenic/Likely pathogenic	11	47364570	47364570	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010144
single nucleotide variant	NM_000256.3(MYBPC3):c.1458-1G>A	MYBPC3	Pathogenic	11	47364296	47364296	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010375
single nucleotide variant	NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	MYBPC3	Pathogenic/Likely pathogenic	11	47364270	47364270	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010449,UniProtKB:Q14896#VAR_045929
single nucleotide variant	NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	MYBPC3	Pathogenic/Likely pathogenic	11	47364248	47364248	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010508,UniProtKB:Q14896#VAR_027881
single nucleotide variant	NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47364178	47364178	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010653
single nucleotide variant	NM_000256.3(MYBPC3):c.1624+4A>T	MYBPC3	Pathogenic/Likely pathogenic	11	47364125	47364125	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010777
single nucleotide variant	NM_000256.3(MYBPC3):c.1693A>T (p.Lys565Ter)	MYBPC3	Pathogenic	11	47363639	47363639	T	A	criteria provided, single submitter	ClinGen:CA010936
Deletion	NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47372895	47372905	CGTGTGCCCTCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011058
Deletion	NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)	MYBPC3	Pathogenic	11	47362786	47362786	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011173
Deletion	NM_000256.3(MYBPC3):c.1863del (p.Phe621fs)	MYBPC3	Pathogenic	11	47362723	47362723	CG	C	criteria provided, single submitter	ClinGen:CA011363