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
Duplication	NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)	TNNT2	Pathogenic	1	201328757	201328758	T	TG	criteria provided, single submitter	ClinGen:CA297460
single nucleotide variant	NM_001276345.2(TNNT2):c.851+1G>C	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	G	criteria provided, single submitter	ClinGen:CA005203
single nucleotide variant	NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)	TNNT2	Pathogenic/Likely pathogenic	1	201328344	201328344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005319
single nucleotide variant	NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)	ACTN2	Pathogenic	1	236882307	236882307	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199276,UniProtKB:P35609#VAR_071970,OMIM:102573.0005
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.360T>G (p.Phe120Leu)	TNNT2	Pathogenic/Likely pathogenic	1	201334370	201334370	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004389
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
single nucleotide variant	NM_001276345.2(TNNT2):c.851+1G>T	TNNT2	Pathogenic/Likely pathogenic	1	201328750	201328750	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005210
single nucleotide variant	NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg)	TNNT2	Pathogenic/Likely pathogenic	1	201334758	201334758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004195
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