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.3553C>T (p.Gln1185Ter)	MYBPC3	Pathogenic	11	47354191	47354191	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014331
single nucleotide variant	NM_000256.3(MYBPC3):c.3541C>G (p.Pro1181Ala)	MYBPC3	Likely pathogenic	11	47354203	47354203	G	C	criteria provided, single submitter	ClinGen:CA014307
single nucleotide variant	NM_000256.3(MYBPC3):c.3491-3C>G	MYBPC3	Likely pathogenic	11	47354256	47354256	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014283
single nucleotide variant	NM_000256.3(MYBPC3):c.3490+1G>T	MYBPC3	Pathogenic/Likely pathogenic	11	47354364	47354364	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014240
Deletion	NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs)	MYBPC3	Pathogenic	11	47354374	47354383	GGGATAAAGAC	G	criteria provided, single submitter	ClinGen:CA014187
Duplication	NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs)	MYBPC3	Pathogenic	11	47354387	47354388	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA296496
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+2T>C	MYBPC3	Pathogenic	11	47354743	47354743	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013942
Deletion	NM_000256.3(MYBPC3):c.3327del (p.Met1110fs)	MYBPC3	Pathogenic	11	47354748	47354748	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013926
Duplication	NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)	MYBPC3	Pathogenic	11	47354753	47354754	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA296434
single nucleotide variant	NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu)	MYBPC3	Likely pathogenic	11	47354770	47354770	A	T	criteria provided, single submitter	ClinGen:CA013860