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
Duplication	NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)	MYBPC3	Pathogenic	11	47370045	47370046	A	AGTGAAGGCAGGCTGGGCATCGGTGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA273860
single nucleotide variant	NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu)	MYH7	Pathogenic	14	23894580	23894580	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012141,UniProtKB:P12883#VAR_019860
single nucleotide variant	NM_001943.5(DSG2):c.523+1G>C	DSG2	Pathogenic/Likely pathogenic	18	29101207	29101207	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022140
single nucleotide variant	NM_001103.4(ACTN2):c.683T>C (p.Met228Thr)	ACTN2	Likely pathogenic	1	236894600	236894600	T	C	criteria provided, single submitter	ClinGen:CA274533,UniProtKB:P35609#VAR_074292,OMIM:102573.0007
single nucleotide variant	NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro)	MYH7	Likely pathogenic	14	23885359	23885359	C	G	criteria provided, single submitter	ClinGen:CA347265
single nucleotide variant	NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro)	MYH7	Likely pathogenic	14	23885394	23885394	A	G	criteria provided, single submitter	ClinGen:CA347262
single nucleotide variant	NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)	TTN	Likely pathogenic	2	179407168	179407168	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA236076
Indel	NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs)	DMD	Pathogenic	X	33229415	33229416	TT	A	criteria provided, single submitter	ClinGen:CA274909
Deletion	NM_170707.4(LMNA):c.48del (p.Ser17fs)	LMNA	Pathogenic	1	156084756	156084756	GC	G	criteria provided, single submitter	ClinGen:CA018155
single nucleotide variant	NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)	DMD	Pathogenic	X	32663137	32663137	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274935