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.2950C>T (p.Gln984Ter)	MYBPC3	Pathogenic	11	47355517	47355517	G	A	criteria provided, single submitter	ClinGen:CA380315908
single nucleotide variant	NM_000256.3(MYBPC3):c.506-1G>A	MYBPC3	Pathogenic	11	47371474	47371474	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380338276
single nucleotide variant	NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter)	MYBPC3	Pathogenic	11	47372790	47372790	C	A	criteria provided, single submitter	ClinGen:CA221708458
Deletion	NC_000011.9:g.(?_46880514)_(47470726_?)del	MYBPC3	Pathogenic	11	46880514	47470726	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000432.4(MYL2):c.173G>T (p.Arg58Leu)	MYL2	Likely pathogenic	12	111352091	111352091	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA386698863
single nucleotide variant	NM_000256.3(MYBPC3):c.1790+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47363541	47363541	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380324153
single nucleotide variant	NM_000257.4(MYH7):c.2464A>G (p.Met822Val)	MYH7	Pathogenic	14	23894193	23894193	T	C	criteria provided, single submitter	ClinGen:CA389048359
single nucleotide variant	NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg)	MYH7	Pathogenic/Likely pathogenic	14	23894063	23894063	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA033314
single nucleotide variant	NM_000257.4(MYH7):c.2411T>C (p.Leu804Pro)	MYH7	Pathogenic	14	23894503	23894503	A	G	criteria provided, single submitter	ClinGen:CA389048470
single nucleotide variant	NM_000257.4(MYH7):c.1159C>T (p.Leu387Phe)	MYH7	Pathogenic	14	23898536	23898536	G	A	criteria provided, single submitter	ClinGen:CA389051219