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.294T>A (p.Asp98Glu)	TNNT2	Likely pathogenic	1	201334738	201334738	A	T	criteria provided, single submitter	-
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.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.305G>A (p.Arg102Gln)	TNNT2	Pathogenic/Likely pathogenic	1	201334425	201334425	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004273,OMIM:191045.0002
single nucleotide variant	NM_001276345.2(TNNT2):c.307A>C (p.Lys103Gln)	TNNT2	Likely pathogenic	1	201334423	201334423	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)	TNNT2	Pathogenic/Likely pathogenic	1	201334420	201334420	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004288
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
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.321G>T (p.Lys107Asn)	TNNT2	Pathogenic/Likely pathogenic	1	201334409	201334409	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004322
Indel	NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr)	TNNT2	Likely pathogenic	1	201334375	201334376	GA	AC	criteria provided, single submitter	ClinGen:CA10576373