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
Deletion	NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)	TTN	Pathogenic/Likely pathogenic	2	179393311	179393315	CAAGTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275200
single nucleotide variant	NM_001103.4(ACTN2):c.2527-1G>A	ACTN2	Pathogenic	1	236925760	236925760	G	A	criteria provided, single submitter	ClinGen:CA335020
single nucleotide variant	NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter)	ACTN2	Pathogenic	1	236925812	236925812	C	T	criteria provided, single submitter	ClinGen:CA335049
single nucleotide variant	NM_144573.4(NEXN):c.1935C>G (p.Phe645Leu)	NEXN	Likely pathogenic	1	78408421	78408421	C	G	criteria provided, single submitter	ClinGen:CA335445
single nucleotide variant	NM_003673.4(TCAP):c.110+5G>T	TCAP	Likely pathogenic	17	37821727	37821727	G	T	criteria provided, single submitter	ClinGen:CA308852
single nucleotide variant	NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)	TTN	Likely pathogenic	2	179400115	179400115	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309376
Indel	NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)	TTN	Pathogenic/Likely pathogenic	2	179400244	179400244	C	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA309461
Duplication	NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs)	TTN	Pathogenic/Likely pathogenic	2	179403370	179403371	A	ACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA309547
single nucleotide variant	NM_001267550.2(TTN):c.98989+1G>A	TTN	Pathogenic/Likely pathogenic	2	179403672	179403672	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309375
Indel	NM_001267550.2(TTN):c.97532_97534delinsA (p.Val32511fs)	TTN	Pathogenic	2	179406270	179406272	AAA	T	criteria provided, single submitter	ClinGen:CA309460