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_000335.5(SCN5A):c.483-1G>A	SCN5A	Pathogenic/Likely pathogenic	3	38662463	38662463	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018624
Deletion	NM_000335.5(SCN5A):c.57del (p.Glu19fs)	SCN5A	Pathogenic	3	38674742	38674742	AC	A	criteria provided, single submitter	ClinGen:CA019479
single nucleotide variant	NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)	FKTN	Likely pathogenic	9	108380248	108380248	C	G	criteria provided, single submitter	ClinGen:CA374377395
Indel	NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer)	SCN5A	Pathogenic	3	38593016	38593018	AAG	TAC	criteria provided, single submitter	ClinGen:CA335886
Deletion	NC_000011.10:g.(?_47331851)_(47348561_?)del	MYBPC3	Pathogenic	11	47353402	47370112	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47332546)_(47334030_?)del	MYBPC3	Pathogenic	11	47354097	47355581	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47335857)_(47338759_?)del	MYBPC3	Pathogenic	11	47357408	47360310	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter)	SCN5A	Pathogenic	3	38601701	38601701	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338535
single nucleotide variant	NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter)	MYBPC3	Pathogenic	11	47355517	47355517	G	A	criteria provided, single submitter	ClinGen:CA380315908
single nucleotide variant	NM_000256.3(MYBPC3):c.506-1G>A	MYBPC3	Pathogenic	11	47371474	47371474	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380338276