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.77933_77951del (p.Glu25978fs)	TTN	Likely pathogenic	2	179432908	179432926	AGCTACAATTGGATCAGACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372700
single nucleotide variant	NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)	TTN	Pathogenic/Likely pathogenic	2	179435390	179435390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349625004
single nucleotide variant	NM_001267550.2(TTN):c.69367G>T (p.Gly23123Ter)	TTN	Likely pathogenic	2	179441695	179441695	C	A	criteria provided, single submitter	ClinGen:CA349668893
single nucleotide variant	NM_001267550.2(TTN):c.50619G>A (p.Trp16873Ter)	TTN	Likely pathogenic	2	179476337	179476337	C	T	criteria provided, single submitter	ClinGen:CA349595023
Deletion	NM_001458.5(FLNC):c.5704del (p.Ala1902fs)	FLNC	Pathogenic	7	128491543	128491543	AG	A	criteria provided, single submitter	ClinGen:CA645372844
single nucleotide variant	NM_000256.3(MYBPC3):c.2906-1G>C	MYBPC3	Likely pathogenic	11	47355562	47355562	C	G	criteria provided, single submitter	ClinGen:CA380316055
single nucleotide variant	NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter)	MYBPC3	Pathogenic	11	47357446	47357446	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380317087
single nucleotide variant	NM_000256.3(MYBPC3):c.2602+2T>G	MYBPC3	Likely pathogenic	11	47358940	47358940	A	C	criteria provided, single submitter	ClinGen:CA380317943
Indel	NM_000256.3(MYBPC3):c.1823_1830delinsA (p.Pro608fs)	MYBPC3	Pathogenic	11	47362756	47362763	GTCGGCAG	T	criteria provided, single submitter	ClinGen:CA645372896
Deletion	NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs)	MYBPC3	Pathogenic	11	47354185	47354185	AG	A	criteria provided, single submitter	ClinGen:CA645372894