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.1330del (p.Ser444fs)	MYBPC3	Pathogenic	11	47364593	47364593	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010115
single nucleotide variant	NM_000256.3(MYBPC3):c.1090+1G>A	MYBPC3	Pathogenic	11	47367757	47367757	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009749
Duplication	NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter)	MYBPC3	Pathogenic	11	47367854	47367855	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA016238
single nucleotide variant	NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)	MYBPC3	Pathogenic	11	47367882	47367882	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016205
Deletion	NM_000256.3(MYBPC3):c.833del (p.Gly278fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47369220	47369220	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015921
single nucleotide variant	NM_000256.3(MYBPC3):c.821+1G>C	MYBPC3	Pathogenic	11	47369407	47369407	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015891
Deletion	NM_000256.3(MYBPC3):c.533del (p.Val178fs)	MYBPC3	Pathogenic	11	47371446	47371446	CA	C	criteria provided, single submitter	ClinGen:CA015433
single nucleotide variant	NM_000256.3(MYBPC3):c.505+5G>C	MYBPC3	Likely pathogenic	11	47371560	47371560	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015288
Duplication	NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs)	MYBPC3	Pathogenic/Likely pathogenic	11	47371603	47371604	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA015167
single nucleotide variant	NM_014000.3(VCL):c.1544-2A>G	VCL	Likely pathogenic	10	75855412	75855412	A	G	criteria provided, single submitter	ClinGen:CA273292