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_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2	Pathogenic	1	201333464	201333464	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004526,UniProtKB:P45379#VAR_016198,OMIM:191045.0007
single nucleotide variant	NM_001276345.2(TNNT2):c.526A>G (p.Arg176Gly)	TNNT2	Likely pathogenic	1	201332498	201332498	T	C	criteria provided, single submitter	ClinGen:CA004675
single nucleotide variant	NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)	TNNT2	Pathogenic	1	201332477	201332477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576372
single nucleotide variant	NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)	TNNT2	Pathogenic/Likely pathogenic	1	201332476	201332476	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004727
single nucleotide variant	NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala)	TNNT2	Likely pathogenic	1	201332459	201332459	A	C	criteria provided, single submitter	ClinGen:CA35420183
single nucleotide variant	NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)	TNNT2	Pathogenic/Likely pathogenic	1	201332458	201332458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004746,UniProtKB:P45379#VAR_016199
Deletion	NM_001276345.2(TNNT2):c.609+1del	TNNT2	Likely pathogenic	1	201331513	201331513	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001276345.2(TNNT2):c.610-1G>A	TNNT2	Likely pathogenic	1	201331151	201331151	C	T	criteria provided, single submitter	ClinGen:CA344204044
single nucleotide variant	NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr)	TNNT2	Likely pathogenic	1	201331098	201331098	A	G	criteria provided, single submitter	ClinGen:CA279262
single nucleotide variant	NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys)	TNNT2	Likely pathogenic	1	201328765	201328765	G	T	criteria provided, single submitter	ClinGen:CA005173