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.37906A>T (p.Lys12636Ter)	TTN	Pathogenic	2	179522462	179522462	T	A	criteria provided, single submitter	ClinGen:CA349481709
single nucleotide variant	NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter)	MYBPC3	Pathogenic	11	47359018	47359018	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA380318188
single nucleotide variant	NM_000256.3(MYBPC3):c.2391C>G (p.Tyr797Ter)	MYBPC3	Pathogenic	11	47359263	47359263	G	C	criteria provided, single submitter	ClinGen:CA380318667
single nucleotide variant	NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)	MYBPC3	Pathogenic	11	47364620	47364620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380327136
single nucleotide variant	NM_000256.3(MYBPC3):c.165C>A (p.Tyr55Ter)	MYBPC3	Likely pathogenic	11	47372917	47372917	G	T	criteria provided, single submitter	ClinGen:CA380341794
single nucleotide variant	NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)	ALPK3	Pathogenic	15	85401144	85401144	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709571,OMIM:617608.0001
single nucleotide variant	NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter)	TTN	Likely pathogenic	2	179585773	179585773	G	C	criteria provided, single submitter	ClinGen:CA349517599
single nucleotide variant	NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)	TTN	Likely pathogenic	2	179431880	179431880	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349600340
single nucleotide variant	NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)	TTN	Likely pathogenic	2	179425686	179425686	C	T	criteria provided, single submitter	ClinGen:CA349555326
Deletion	NM_001267550.2(TTN):c.56359_56360del (p.Pro18787fs)	TTN	Likely pathogenic	2	179464160	179464161	AGG	A	criteria provided, single submitter	ClinGen:CA658796057