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.746G>T (p.Arg249Leu)	MYH7	Likely pathogenic	14	23900677	23900677	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)	MYBPC3	Likely pathogenic	11	47358972	47358972	T	G	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.105186dup (p.Ala35063fs)	TTN	Likely pathogenic	2	179396155	179396156	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)	TTN	Likely pathogenic	2	179399399	179399399	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.100411_100412del (p.Asn33471fs)	TTN	Likely pathogenic	2	179401062	179401063	ATT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)	TTN	Likely pathogenic	2	179411488	179411488	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.90562_90566del (p.Thr30188fs)	TTN	Likely pathogenic	2	179417061	179417065	CAAAGT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter)	TTN	Likely pathogenic	2	179417083	179417083	T	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.89553del (p.Ala29853fs)	TTN	Likely pathogenic	2	179418074	179418074	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.88848_88864del (p.Ile29616_Gly29617insTer)	TTN	Likely pathogenic	2	179419210	179419226	GATTCCAGTGGCTCGCCA	G	criteria provided, single submitter	-