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_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	MYH7	Pathogenic	14	23891476	23891476	C	T	reviewed by expert panel	ClinGen:CA013417
single nucleotide variant	NM_000432.4(MYL2):c.239C>A (p.Thr80Asn)	MYL2	Pathogenic/Likely pathogenic	12	111352025	111352025	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009949
Deletion	NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs)	TTN	Likely pathogenic	2	179445128	179445131	ATTTG	A	criteria provided, single submitter	ClinGen:CA345901
single nucleotide variant	NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	MYH7	Likely pathogenic	14	23894049	23894049	G	A	reviewed by expert panel	ClinGen:CA012732,UniProtKB:P12883#VAR_020816
single nucleotide variant	NM_000257.4(MYH7):c.958G>A (p.Val320Met)	MYH7	Pathogenic/Likely pathogenic	14	23899810	23899810	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017003,UniProtKB:P12883#VAR_020803
single nucleotide variant	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3	Pathogenic/Likely pathogenic	19	55665463	55665463	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021738
single nucleotide variant	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353795	47353795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014549
single nucleotide variant	NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter)	MYH7	Likely pathogenic	14	23889431	23889431	C	A	criteria provided, single submitter	ClinGen:CA013629
single nucleotide variant	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2	Pathogenic/Likely pathogenic	1	201328345	201328345	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005312
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