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.48761-1G>C	TTN	Likely pathogenic	2	179479481	179479481	C	G	criteria provided, single submitter	ClinGen:CA10576521
Deletion	NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs)	TTN	Likely pathogenic	2	179623767	179623773	AAACGTGT	A	criteria provided, single submitter	ClinGen:CA10576569
Duplication	NM_003373.4(VCL):c.670dup (p.Glu224fs)	VCL	Likely pathogenic	10	75834547	75834548	A	AG	criteria provided, single submitter	ClinGen:CA10576823
Deletion	NM_000256.3(MYBPC3):c.(?_2906)_(3627_?)del	MYBPC3	Pathogenic	11	47354117	47355561	na	na	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs)	MYBPC3	Pathogenic	11	47354232	47354232	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576881
Deletion	NM_000256.3(MYBPC3):c.2789del (p.Leu930fs)	MYBPC3	Pathogenic	11	47356709	47356709	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576885
Deletion	NM_000256.3(MYBPC3):c.2504del (p.Arg835fs)	MYBPC3	Pathogenic	11	47359040	47359040	GC	G	criteria provided, single submitter	ClinGen:CA10576886
Duplication	NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs)	MYBPC3	Pathogenic	11	47364393	47364394	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576891
single nucleotide variant	NM_000256.3(MYBPC3):c.1075G>T (p.Glu359Ter)	MYBPC3	Pathogenic	11	47367773	47367773	C	A	criteria provided, single submitter	ClinGen:CA10576892
single nucleotide variant	NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr)	TPM1	Likely pathogenic	15	63353071	63353071	G	A	criteria provided, single submitter	ClinGen:CA10576996