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.61682C>G (p.Ser20561Ter)	TTN	Likely pathogenic	2	179454770	179454770	G	C	criteria provided, single submitter	ClinGen:CA349470213
Duplication	NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)	TTN	Likely pathogenic	2	179454322	179454323	C	CT	criteria provided, single submitter	ClinGen:CA10588986
Duplication	NM_001267550.2(TTN):c.79145dup (p.Asn26382fs)	TTN	Likely pathogenic	2	179431713	179431714	A	AT	criteria provided, single submitter	ClinGen:CA10602817
Duplication	NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)	TTN	Pathogenic/Likely pathogenic	2	179400321	179400322	C	CTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602822
Duplication	NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)	TTN	Pathogenic/Likely pathogenic	2	179449679	179449680	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA1991855
Deletion	NM_001267550.2(TTN):c.90393del (p.Asp30132fs)	TTN	Pathogenic	2	179417234	179417234	CA	C	criteria provided, single submitter	ClinGen:CA10602831
single nucleotide variant	NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)	TTN	Pathogenic/Likely pathogenic	2	179425315	179425315	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602832
Duplication	NM_003476.5(CSRP3):c.122_123dup (p.Lys42fs)	CSRP3	Pathogenic	11	19209840	19209841	T	TCC	criteria provided, single submitter	ClinGen:CA10603192
Deletion	NM_000256.3(MYBPC3):c.2716del (p.Val906fs)	MYBPC3	Pathogenic	11	47357449	47357449	AC	A	criteria provided, single submitter	ClinGen:CA10603212
single nucleotide variant	NM_000256.3(MYBPC3):c.906-1G>A	MYBPC3	Pathogenic	11	47368581	47368581	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603214