特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_003280.3(TNNC1):c.476G>A (p.Gly159Asp)	TNNC1	Likely pathogenic	3	52485301	52485301	C	T	criteria provided, single submitter	ClinGen:CA122392,OMIM:191040.0001
single nucleotide variant	NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)	TTN	Likely pathogenic	2	179647707	179647707	A	G	criteria provided, single submitter	ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003
single nucleotide variant	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN	Likely pathogenic	2	179391848	179391848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341209,OMIM:188840.0005
single nucleotide variant	NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)	RAF1	Likely pathogenic	3	12627244	12627244	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA257064,UniProtKB:P04049#VAR_037819,OMIM:164760.0003
single nucleotide variant	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	MYH7	Likely pathogenic	14	23893193	23893193	C	T	reviewed by expert panel	ClinGen:CA013144,UniProtKB:P12883#VAR_004598,OMIM:160760.0007
single nucleotide variant	NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)	MYH7	Likely pathogenic	14	23893235	23893235	C	T	criteria provided, single submitter	UniProtKB:P12883#VAR_004597,OMIM:160760.0019,ClinGen:CA013118
single nucleotide variant	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	MYH7	Likely pathogenic	14	23884861	23884861	G	A	reviewed by expert panel	UniProtKB:P12883#VAR_042834,OMIM:160760.0032,ClinGen:CA015719
single nucleotide variant	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA	Likely pathogenic	1	156100449	156100449	G	C	criteria provided, single submitter	ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variant	NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	LMNA	Likely pathogenic	1	156104733	156104733	T	A	criteria provided, single submitter	ClinGen:CA018615,OMIM:150330.0035
single nucleotide variant	NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser)	PSEN1	Likely pathogenic	14	73664768	73664768	C	T	criteria provided, single submitter	ClinGen:CA225118,UniProtKB:P49768#VAR_006445,OMIM:104311.0011