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.1316del (p.Gly439fs)	MYBPC3	Pathogenic	11	47364607	47364607	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter)	MYBPC3	Pathogenic	11	47364671	47364671	T	A	criteria provided, single submitter	ClinGen:CA009986
single nucleotide variant	NM_000256.3(MYBPC3):c.1227-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47364698	47364698	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009954
single nucleotide variant	NM_000256.3(MYBPC3):c.1223+2T>G	MYBPC3	Pathogenic	11	47365041	47365041	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009906
single nucleotide variant	NM_000256.3(MYBPC3):c.1223+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47365042	47365042	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009895
single nucleotide variant	NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter)	MYBPC3	Pathogenic	11	47365065	47365065	G	A	criteria provided, single submitter	ClinGen:CA009855
single nucleotide variant	NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter)	MYBPC3	Pathogenic	11	47365078	47365078	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009844
Duplication	NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391delinsGlyThrGlyTer)	MYBPC3	Pathogenic	11	47365094	47365095	T	TCATGGTCAGCCAGTTC	criteria provided, single submitter	ClinGen:CA296444
Duplication	NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47365103	47365104	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA296500
Duplication	NM_000256.3(MYBPC3):c.1120dup (p.Gln374fs)	MYBPC3	Pathogenic	11	47365145	47365146	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA009794