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_000258.3(MYL3):c.281G>A (p.Arg94His)	MYL3	Pathogenic/Likely pathogenic	3	46902192	46902192	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013722,Leiden Muscular Dystrophy (MYL3):MYL3_00005
single nucleotide variant	NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)	TPM1	Likely pathogenic	15	63336295	63336295	G	C	criteria provided, single submitter	ClinGen:CA018692,Leiden Muscular Dystrophy (TPM1):TPM1_00004
single nucleotide variant	NM_001018005.2(TPM1):c.539A>T (p.Glu180Val)	TPM1	Likely pathogenic	15	63353114	63353114	A	T	criteria provided, single submitter	ClinGen:CA019024,UniProtKB:P09493#VAR_029452,Leiden Muscular Dystrophy (TPM1):TPM1_00011
single nucleotide variant	NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)	TPM1	Pathogenic/Likely pathogenic	15	63353922	63353922	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018196,UniProtKB:P09493#VAR_070121,Leiden Muscular Dystrophy (TPM1):TPM1_00013,OMIM:191010.0007
single nucleotide variant	NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)	TPM1	Pathogenic/Likely pathogenic	15	63354418	63354418	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018243,Leiden Muscular Dystrophy (TPM1):TPM1_00014
single nucleotide variant	NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)	TPM1	Pathogenic	15	63354462	63354462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018280,Leiden Muscular Dystrophy (TPM1):TPM1_00015
single nucleotide variant	NM_001018005.2(TPM1):c.479G>A (p.Arg160His)	TPM1	Pathogenic/Likely pathogenic	15	63351866	63351866	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018077,Leiden Muscular Dystrophy (TPM1):TPM1_00030
single nucleotide variant	NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	MYBPC3	Pathogenic/Likely pathogenic	11	47359280	47359280	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012147,UniProtKB:Q14896#VAR_029412
single nucleotide variant	NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)	MYBPC3	Pathogenic	11	47354447	47354447	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014095
single nucleotide variant	NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	MYBPC3	Pathogenic	11	47367916	47367916	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016142