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
Duplication	NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)	TNNT2	Pathogenic	1	201328757	201328758	T	TG	criteria provided, single submitter	ClinGen:CA297460
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_001276345.2(TNNT2):c.851+1G>C	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	G	criteria provided, single submitter	ClinGen:CA005203
single nucleotide variant	NM_001276345.2(TNNT2):c.851+1G>T	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005210
single nucleotide variant	NM_001276345.2(TNNT2):c.851+1G>A	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005196,OMIM:191045.0003
single nucleotide variant	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2	Pathogenic/Likely pathogenic	1	201328345	201328345	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005312
single nucleotide variant	NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)	TNNT2	Pathogenic/Likely pathogenic	1	201328344	201328344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005319
single nucleotide variant	NM_001267550.2(TTN):c.634C>T (p.Gln212Ter)	TTN	Likely pathogenic	2	179664587	179664587	G	A	criteria provided, single submitter	ClinGen:CA349524918
Deletion	NM_001267550.2(TTN):c.1558del (p.Thr520fs)	TTN	Likely pathogenic	2	179656903	179656903	GT	G	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.1758_1763delinsT (p.Glu586fs)	TTN	Likely pathogenic	2	179655472	179655477	GTAGTT	A	criteria provided, single submitter	ClinGen:CA309396