特発性拡張型心筋症

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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_000363.5(TNNI3):c.548A>C (p.Lys183Thr)	TNNI3	Pathogenic	19	55665399	55665399	T	G	criteria provided, single submitter	ClinGen:CA021859
single nucleotide variant	NM_000363.5(TNNI3):c.547A>G (p.Lys183Glu)	TNNI3	Pathogenic	19	55665400	55665400	T	C	criteria provided, single submitter	ClinGen:CA021854
single nucleotide variant	NM_000363.5(TNNI3):c.521A>C (p.Lys174Thr)	TNNI3	Likely pathogenic	19	55665426	55665426	T	G	criteria provided, single submitter	ClinGen:CA021804
single nucleotide variant	NM_000363.5(TNNI3):c.514C>G (p.His172Asp)	TNNI3	Likely pathogenic	19	55665433	55665433	G	C	criteria provided, single submitter	ClinGen:CA021797
single nucleotide variant	NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665540	55665540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021615
single nucleotide variant	NM_000363.5(TNNI3):c.302A>G (p.His101Arg)	TNNI3	Likely pathogenic	19	55666179	55666179	T	C	criteria provided, single submitter	ClinGen:CA021470
Deletion	NM_000256.3(MYBPC3):c.3763del (p.Ala1255fs)	MYBPC3	Likely pathogenic	11	47353674	47353674	GC	G	criteria provided, single submitter	ClinGen:CA014805
Deletion	NM_000256.3(MYBPC3):c.1377del (p.Leu460fs)	MYBPC3	Pathogenic	11	47364461	47364461	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010213
single nucleotide variant	NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter)	MYBPC3	Pathogenic	11	47364572	47364572	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1224-52G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47364865	47364865	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009923