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.163G>A (p.Asp55Asn)	TPM1	Likely pathogenic	15	63336274	63336274	G	A	criteria provided, single submitter	ClinGen:CA017879
single nucleotide variant	NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly)	TPM1	Likely pathogenic	15	63349284	63349284	A	G	criteria provided, single submitter	ClinGen:CA017987
single nucleotide variant	NM_001018005.2(TPM1):c.423G>C (p.Met141Ile)	TPM1	Likely pathogenic	15	63351810	63351810	G	C	criteria provided, single submitter	ClinGen:CA018027
single nucleotide variant	NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp)	TPM1	Likely pathogenic	15	63354784	63354784	C	T	criteria provided, single submitter	ClinGen:CA018292
single nucleotide variant	NM_000432.4(MYL2):c.485G>A (p.Gly162Glu)	MYL2	Pathogenic	12	111348897	111348897	C	T	criteria provided, single submitter	ClinGen:CA010439
single nucleotide variant	NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu)	TNNT2	Likely pathogenic	1	201334738	201334738	A	C	criteria provided, single submitter	ClinGen:CA004247
single nucleotide variant	NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)	TNNT2	Pathogenic/Likely pathogenic	1	201334745	201334745	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004228
single nucleotide variant	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2	Pathogenic	1	201334426	201334426	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004266,UniProtKB:P45379#VAR_016196
single nucleotide variant	NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)	TNNT2	Pathogenic	1	201334419	201334419	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004294
single nucleotide variant	NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)	TNNT2	Pathogenic/Likely pathogenic	1	201334419	201334419	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004302