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.68195C>A (p.Ser22732Ter)	TTN	Likely pathogenic	2	179443562	179443562	G	T	criteria provided, single submitter	ClinGen:CA273679
Deletion	NM_001267550.2(TTN):c.60399del (p.Ser20134fs)	TTN	Likely pathogenic	2	179456053	179456053	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273556
single nucleotide variant	NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)	ACTN2	Pathogenic	1	236882307	236882307	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199276,UniProtKB:P35609#VAR_071970,OMIM:102573.0005
Deletion	NM_001267550.2(TTN):c.72669del (p.Asp24224fs)	TTN	Pathogenic/Likely pathogenic	2	179438190	179438190	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273566
single nucleotide variant	NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)	TTN	Pathogenic/Likely pathogenic	2	179439538	179439538	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273256
single nucleotide variant	NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)	TTN	Pathogenic/Likely pathogenic	2	179442793	179442793	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273260
single nucleotide variant	NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)	TTN	Pathogenic/Likely pathogenic	2	179454235	179454235	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273264
single nucleotide variant	NM_001267550.2(TTN):c.97492+1G>C	TTN	Pathogenic/Likely pathogenic	2	179406990	179406990	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273675
Indel	NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)	TTN	Pathogenic/Likely pathogenic	2	179412173	179412173	G	CTGCTAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA273250
Indel	NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer)	TTN	Likely pathogenic	2	179415915	179415917	CGC	TCACACCCACTTA	criteria provided, single submitter	ClinGen:CA273645