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_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	TTN	Pathogenic	2	179410778	179410778	A	G	criteria provided, single submitter	ClinGen:CA358822
single nucleotide variant	NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	TTN	Pathogenic/Likely pathogenic	2	179410768	179410768	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358828
single nucleotide variant	NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn)	MYH7	Likely pathogenic	14	23893352	23893352	C	T	criteria provided, single submitter	ClinGen:CA012857
single nucleotide variant	NM_000257.4(MYH7):c.2163-1G>A	MYH7	Pathogenic	14	23895028	23895028	C	T	criteria provided, single submitter	ClinGen:CA011824
single nucleotide variant	NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	MYH7	Pathogenic/Likely pathogenic	14	23897714	23897714	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010981
single nucleotide variant	NM_000256.3(MYBPC3):c.1224-19G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47364832	47364832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009912,OMIM:600958.0016
single nucleotide variant	NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro)	MYH7	Likely pathogenic	14	23885331	23885331	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015395
single nucleotide variant	NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)	MYH7	Pathogenic/Likely pathogenic	14	23885229	23885229	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015466
single nucleotide variant	NM_020433.5(JPH2):c.482C>A (p.Thr161Lys)	JPH2	Pathogenic/Likely pathogenic	20	42788945	42788945	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345816
single nucleotide variant	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47355103	47355103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013639