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.208G>T (p.Glu70Ter)	MYBPC3	Likely pathogenic	11	47372874	47372874	C	A	criteria provided, single submitter	ClinGen:CA221708712
single nucleotide variant	NM_002471.4(MYH6):c.452C>T (p.Pro151Leu)	MYH6	Likely pathogenic	14	23874482	23874482	G	A	criteria provided, single submitter	ClinGen:CA389030846
single nucleotide variant	NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys)	MYH7	Pathogenic/Likely pathogenic	14	23893247	23893247	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA389047044
single nucleotide variant	NM_000257.4(MYH7):c.2519T>C (p.Leu840Pro)	MYH7	Likely pathogenic	14	23894138	23894138	A	G	criteria provided, single submitter	ClinGen:CA389048244
single nucleotide variant	NM_000257.4(MYH7):c.1810A>G (p.Thr604Ala)	MYH7	Pathogenic	14	23896872	23896872	T	C	criteria provided, single submitter	ClinGen:CA389049768
single nucleotide variant	NM_000257.4(MYH7):c.1801C>G (p.Leu601Val)	MYH7	Likely pathogenic	14	23896881	23896881	G	C	criteria provided, single submitter	ClinGen:CA389049786
Indel	NM_001458.5(FLNC):c.3547_3548delinsCT (p.Ala1183Leu)	FLNC	Likely pathogenic	7	128485066	128485067	GC	CT	criteria provided, single submitter	ClinGen:CA645372843
single nucleotide variant	NM_001276345.2(TNNT2):c.847A>G (p.Lys283Glu)	TNNT2	Pathogenic	1	201328755	201328755	T	C	criteria provided, single submitter	ClinGen:CA344202333
single nucleotide variant	NM_001267550.2(TTN):c.100927C>T (p.Gln33643Ter)	TTN	Likely pathogenic	2	179400415	179400415	G	A	criteria provided, single submitter	ClinGen:CA349422395
single nucleotide variant	NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)	TTN	Likely pathogenic	2	179412572	179412572	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349480887