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_033337.3(CAV3):c.366dup (p.Leu123fs)	CAV3	Likely pathogenic	3	8787462	8787463	C	CA	criteria provided, single submitter	ClinGen:CA658796224
Duplication	NM_003476.5(CSRP3):c.122_123dup (p.Lys42fs)	CSRP3	Pathogenic	11	19209840	19209841	T	TCC	criteria provided, single submitter	ClinGen:CA10603192
single nucleotide variant	NM_002471.4(MYH6):c.4097C>T (p.Ala1366Val)	MYH6	Likely pathogenic	14	23858146	23858146	G	A	criteria provided, single submitter	ClinGen:CA389001874
Duplication	NM_002471.4(MYH6):c.3193dup (p.Gln1065fs)	MYH6	Pathogenic	14	23862178	23862179	T	TG	criteria provided, single submitter	ClinGen:CA279617
Deletion	NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs)	MYH6	Pathogenic	14	23863493	23863500	TGAAGGCCC	T	criteria provided, single submitter	ClinGen:CA658798170
single nucleotide variant	NM_002471.4(MYH6):c.2162G>A (p.Arg721Gln)	MYH6	Likely pathogenic	14	23866178	23866178	C	T	criteria provided, single submitter	ClinGen:CA7115577
single nucleotide variant	NM_002471.4(MYH6):c.1410+1G>A	MYH6	Pathogenic	14	23869917	23869917	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002471.4(MYH6):c.735T>G (p.Phe245Leu)	MYH6	Pathogenic	14	23873505	23873505	A	C	criteria provided, single submitter	ClinGen:CA389028862
single nucleotide variant	NM_002471.4(MYH6):c.452C>T (p.Pro151Leu)	MYH6	Likely pathogenic	14	23874482	23874482	G	A	criteria provided, single submitter	ClinGen:CA389030846
Indel	NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)	MYH7	Likely pathogenic	14	23883014	23883017	GACT	A	criteria provided, single submitter	ClinGen:CA351898