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_000257.4(MYH7):c.2555T>G (p.Met852Arg)	MYH7	Likely pathogenic	14	23894102	23894102	A	C	criteria provided, single submitter	ClinGen:CA389048167
single nucleotide variant	NM_000257.4(MYH7):c.732+2T>G	MYH7	Pathogenic	14	23900792	23900792	A	C	criteria provided, single submitter	ClinGen:CA389052164
single nucleotide variant	NM_000335.5(SCN5A):c.5138A>G (p.Asp1713Gly)	SCN5A	Likely pathogenic	3	38592722	38592722	T	C	criteria provided, single submitter	ClinGen:CA018933
single nucleotide variant	NM_001943.5(DSG2):c.691-1G>A	DSG2	Likely pathogenic	18	29104410	29104410	G	A	criteria provided, single submitter	ClinGen:CA402134823
single nucleotide variant	NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)	SCN5A	Pathogenic/Likely pathogenic	3	38592636	38592636	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019015,UniProtKB:Q14524#VAR_055208
Deletion	NC_000023.11:g.(?_31609621)_(31836839_?)del	DMD	Pathogenic	X	31627738	31854956	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31679355)_(31875393_?)del	DMD	Pathogenic	X	31697472	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31747728)_(31893510_?)del	DMD	Pathogenic	X	31747728	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31792057)_(31893510_?)del	DMD	Pathogenic	X	31792057	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31792057)_(31950364_?)del	DMD	Pathogenic	X	31792057	31950364	na	na	criteria provided, single submitter	-