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_001458.5(FLNC):c.5165del (p.Gly1722fs)	FLNC	Pathogenic/Likely pathogenic	7	128489594	128489594	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797011
Duplication	NM_001458.5(FLNC):c.5697dup (p.Ser1900fs)	FLNC	Pathogenic	7	128491536	128491537	C	CA	criteria provided, single submitter	ClinGen:CA658797015
single nucleotide variant	NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter)	FLNC	Pathogenic	7	128480657	128480657	C	A	criteria provided, single submitter	ClinGen:CA369226597
single nucleotide variant	NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro)	PRKAG2	Pathogenic/Likely pathogenic	7	151273498	151273498	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA370072449
single nucleotide variant	NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter)	FLNC	Pathogenic	7	128481565	128481565	G	T	criteria provided, single submitter	ClinGen:CA369227917
single nucleotide variant	NM_001458.5(FLNC):c.7251+1G>A	FLNC	Pathogenic	7	128495369	128495369	G	A	criteria provided, single submitter	ClinGen:CA369216134,OMIM:102565.0013
Deletion	NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)	FLNC	Pathogenic	7	128496949	128496961	GGTCCTGGGCTCGA	G	criteria provided, single submitter	ClinGen:CA658797007
Deletion	NC_000011.10:g.(?_47331851)_(47348561_?)del	MYBPC3	Pathogenic	11	47353402	47370112	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47332546)_(47334030_?)del	MYBPC3	Pathogenic	11	47354097	47355581	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47335857)_(47338759_?)del	MYBPC3	Pathogenic	11	47357408	47360310	na	na	criteria provided, single submitter	-