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_000363.5(TNNI3):c.302A>G (p.His101Arg)	TNNI3	Likely pathogenic	19	55666179	55666179	T	C	criteria provided, single submitter	ClinGen:CA021470
Deletion	NM_000256.3(MYBPC3):c.3763del (p.Ala1255fs)	MYBPC3	Likely pathogenic	11	47353674	47353674	GC	G	criteria provided, single submitter	ClinGen:CA014805
Deletion	NM_000256.3(MYBPC3):c.1377del (p.Leu460fs)	MYBPC3	Pathogenic	11	47364461	47364461	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010213
single nucleotide variant	NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter)	MYBPC3	Pathogenic	11	47364572	47364572	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1224-52G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47364865	47364865	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009923
Duplication	NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)	MYBPC3	Pathogenic	11	47370045	47370046	A	AGTGAAGGCAGGCTGGGCATCGGTGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA273860
single nucleotide variant	NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu)	MYH7	Pathogenic	14	23894580	23894580	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012141,UniProtKB:P12883#VAR_019860
single nucleotide variant	NM_001103.4(ACTN2):c.683T>C (p.Met228Thr)	ACTN2	Likely pathogenic	1	236894600	236894600	T	C	criteria provided, single submitter	ClinGen:CA274533,UniProtKB:P35609#VAR_074292,OMIM:102573.0007
single nucleotide variant	NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro)	MYH7	Likely pathogenic	14	23885359	23885359	C	G	criteria provided, single submitter	ClinGen:CA347265
single nucleotide variant	NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro)	MYH7	Likely pathogenic	14	23885394	23885394	A	G	criteria provided, single submitter	ClinGen:CA347262