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_000257.4(MYH7):c.1325G>T (p.Arg442Leu)	MYH7	Likely pathogenic	14	23898246	23898246	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.959T>A (p.Val320Glu)	MYH7	Likely pathogenic	14	23899809	23899809	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.952A>C (p.Thr318Pro)	MYH7	Likely pathogenic	14	23899816	23899816	T	G	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3191-11_3193del	MYBPC3	Likely pathogenic	11	47354882	47354895	TTGTCTGCGGGAGAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2737+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47357427	47357427	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1227-1G>T	MYBPC3	Likely pathogenic	11	47364697	47364697	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)	TTN	Likely pathogenic	2	179399389	179399389	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.94729G>T (p.Gly31577Ter)	TTN	Likely pathogenic	2	179411426	179411426	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.91035G>A (p.Trp30345Ter)	TTN	Likely pathogenic	2	179416592	179416592	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	TTN	Pathogenic/Likely pathogenic	2	179427755	179427755	G	A	criteria provided, multiple submitters, no conflicts	-