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.86640C>G (p.Tyr28880Ter)	TTN	Pathogenic/Likely pathogenic	2	179424219	179424219	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309358
single nucleotide variant	NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)	TTN	Pathogenic/Likely pathogenic	2	179424385	179424385	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309355
Deletion	NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)	TTN	Pathogenic	2	179424468	179424472	TAGTAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309445
single nucleotide variant	NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)	TTN	Pathogenic/Likely pathogenic	2	179424743	179424743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309504
Deletion	NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)	TTN	Likely pathogenic	2	179425240	179425247	TACACTCTC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter)	TTN	Likely pathogenic	2	179425962	179425962	C	T	criteria provided, single submitter	ClinGen:CA309352
Deletion	NM_001267550.2(TTN):c.84059del (p.Leu28020fs)	TTN	Likely pathogenic	2	179426800	179426800	TA	T	criteria provided, single submitter	ClinGen:CA309443
single nucleotide variant	NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter)	TTN	Likely pathogenic	2	179427206	179427206	C	A	criteria provided, single submitter	ClinGen:CA309349
Deletion	NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)	TTN	Pathogenic/Likely pathogenic	2	179427786	179427795	TAGCACTTGCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309442
Indel	NM_001267550.2(TTN):c.82716_82717delinsA (p.Pro27574fs)	TTN	Pathogenic	2	179428142	179428143	GA	T	criteria provided, single submitter	ClinGen:CA309441