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.2994+2T>C	MYBPC3	Pathogenic/Likely pathogenic	11	47355471	47355471	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013280
single nucleotide variant	NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter)	MYBPC3	Pathogenic	11	47355514	47355514	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013224
single nucleotide variant	NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)	MYBPC3	Pathogenic	11	47355547	47355547	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013195
single nucleotide variant	NM_000256.3(MYBPC3):c.2906-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47355563	47355563	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013161
Deletion	NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)	MYBPC3	Pathogenic	11	47356622	47356623	CGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013096
single nucleotide variant	NM_000256.3(MYBPC3):c.2737+2T>A	MYBPC3	Pathogenic	11	47357426	47357426	A	T	criteria provided, single submitter	ClinGen:CA012903
Deletion	NM_000256.3(MYBPC3):c.2556del (p.Ile852fs)	MYBPC3	Pathogenic	11	47358988	47358988	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012627
Deletion	NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs)	MYBPC3	Pathogenic	11	47359006	47359027	AGACGCGCATCTCGTACACCACG	A	criteria provided, single submitter	ClinGen:CA012435
single nucleotide variant	NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter)	MYBPC3	Pathogenic	11	47359263	47359263	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012195
single nucleotide variant	NM_000256.3(MYBPC3):c.2149-1G>A	MYBPC3	Pathogenic	11	47360231	47360231	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011768