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.3814+2T>C	MYBPC3	Likely pathogenic	11	47353621	47353621	A	G	criteria provided, single submitter	ClinGen:CA352023
single nucleotide variant	NM_000256.3(MYBPC3):c.3331-2A>C	MYBPC3	Pathogenic/Likely pathogenic	11	47354526	47354526	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352005
single nucleotide variant	NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47355135	47355135	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352035
Duplication	NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47355254	47355255	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA351856
Deletion	NM_000256.3(MYBPC3):c.2097del (p.Asp700fs)	MYBPC3	Likely pathogenic	11	47360926	47360926	CT	C	criteria provided, single submitter	ClinGen:CA351963
single nucleotide variant	NM_000256.3(MYBPC3):c.1927+2T>C	MYBPC3	Likely pathogenic	11	47362552	47362552	A	G	criteria provided, single submitter	ClinGen:CA351870
single nucleotide variant	NM_000256.3(MYBPC3):c.1625-1G>A	MYBPC3	Likely pathogenic	11	47363708	47363708	C	T	criteria provided, single submitter	ClinGen:CA352004
single nucleotide variant	NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47364178	47364178	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA079297
Deletion	NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47365098	47365113	TGGTCAGCCAGTTCCAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352432
Deletion	NM_000256.3(MYBPC3):c.441_442del (p.Gly148fs)	MYBPC3	Likely pathogenic	11	47371628	47371629	CCA	C	criteria provided, single submitter	ClinGen:CA351920