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_000021.4(PSEN1):c.347C>A (p.Thr116Asn)	PSEN1	Pathogenic	14	73640282	73640282	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)	PSEN1	Likely pathogenic	14	73659429	73659429	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.748C>G (p.Leu250Val)	SCN5A	Likely pathogenic	3	38651411	38651411	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser)	SCN5A	Likely pathogenic	3	38598057	38598057	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	DSG2	Pathogenic/Likely pathogenic	18	29078217	29078217	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.871dup (p.Thr291fs)	DSG2	Pathogenic	18	29104707	29104708	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter)	DMD	Pathogenic	X	31165424	31165424	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.10182C>A (p.Tyr3394Ter)	DMD	Pathogenic	X	31196827	31196827	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9938G>T (p.Cys3313Phe)	DMD	Likely pathogenic	X	31200891	31200891	C	A	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.9468del (p.Ile3157fs)	DMD	Pathogenic	X	31227710	31227710	TA	T	criteria provided, single submitter	-