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_001267550.2(TTN):c.99063del (p.Lys33021fs)	TTN	Pathogenic/Likely pathogenic	2	179403493	179403493	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)	TTN	Pathogenic/Likely pathogenic	2	179429136	179429136	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg)	MYH7	Pathogenic/Likely pathogenic	14	23894063	23894063	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA033314
single nucleotide variant	NM_000256.3(MYBPC3):c.1790+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47363541	47363541	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380324153
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
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
Deletion	NM_001458.5(FLNC):c.7929del (p.Leu2645fs)	FLNC	Pathogenic/Likely pathogenic	7	128498210	128498210	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797008
Deletion	NM_001267550.2(TTN):c.51525del (p.Ser17177fs)	TTN	Pathogenic/Likely pathogenic	2	179474625	179474625	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795993
Indel	NM_000256.3(MYBPC3):c.221C>TT	MYBPC3	Pathogenic/Likely pathogenic	11	47372861	47372861	G	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797648
Duplication	NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364130	47364131	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797632