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_001018005.2(TPM1):c.539A>G (p.Glu180Gly)	TPM1	Pathogenic	15	63353114	63353114	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019017,UniProtKB:P09493#VAR_007602,Leiden Muscular Dystrophy (TPM1):TPM1_00010,OMIM:191010.0001
single nucleotide variant	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1	Pathogenic	15	63353098	63353098	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018106,UniProtKB:P09493#VAR_007601,Leiden Muscular Dystrophy (TPM1):TPM1_00009,OMIM:191010.0002
single nucleotide variant	NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)	TPM1	Pathogenic/Likely pathogenic	15	63349227	63349227	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017934,Leiden Muscular Dystrophy (TPM1):TPM1_00007,OMIM:191010.0003
single nucleotide variant	NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)	TTN	Likely pathogenic	2	179647707	179647707	A	G	criteria provided, single submitter	ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003
Indel	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN	Pathogenic	2	179391925	179391935	CCATGTTACTT	TTTTTCTTTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA122613,OMIM:188840.0004
single nucleotide variant	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN	Likely pathogenic	2	179391848	179391848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341209,OMIM:188840.0005
single nucleotide variant	NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	TTN	Pathogenic/Likely pathogenic	2	179391875	179391875	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341213,OMIM:188840.0006
single nucleotide variant	NM_002667.5(PLN):c.25C>T (p.Arg9Cys)	PLN	Pathogenic	6	118880109	118880109	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256917,UniProtKB:P26678#VAR_025989,OMIM:172405.0001
single nucleotide variant	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	PLN	Pathogenic/Likely pathogenic	6	118880200	118880200	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA249977,OMIM:172405.0002
single nucleotide variant	NM_000258.3(MYL3):c.445A>G (p.Met149Val)	MYL3	Pathogenic	3	46901001	46901001	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013784,Leiden Muscular Dystrophy (MYL3):MYL3_00002,UniProtKB:P08590#VAR_004599,OMIM:160790.0001