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.1120C>T (p.Gln374Ter)	MYBPC3	Pathogenic	11	47365146	47365146	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009800
single nucleotide variant	NM_000256.3(MYBPC3):c.1090+2T>G	MYBPC3	Pathogenic	11	47367756	47367756	A	C	criteria provided, single submitter	ClinGen:CA009758
Duplication	NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs)	MYBPC3	Pathogenic	11	47367763	47367764	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA296499
single nucleotide variant	NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn)	MYBPC3	Likely pathogenic	11	47367768	47367768	C	G	criteria provided, single submitter	ClinGen:CA009741
Indel	NM_000256.3(MYBPC3):c.1069_1072delinsGC (p.Arg357fs)	MYBPC3	Pathogenic	11	47367776	47367779	CGCG	GC	criteria provided, single submitter	ClinGen:CA009733
Deletion	NM_000256.3(MYBPC3):c.1028del (p.Thr343fs)	MYBPC3	Pathogenic	11	47367820	47367820	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009708
single nucleotide variant	NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter)	MYBPC3	Pathogenic	11	47367833	47367833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009690
Insertion	NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309fs)	MYBPC3	Pathogenic	11	47368180	47368181	C	CAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA016089
single nucleotide variant	NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47368981	47368981	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016013
Deletion	NM_000256.3(MYBPC3):c.884del (p.Phe295fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47368998	47368998	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015996