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.5024T>C (p.Met1675Thr)	SCN5A	Likely pathogenic	3	38592836	38592836	A	G	criteria provided, single submitter	ClinGen:CA018860
single nucleotide variant	NM_000335.5(SCN5A):c.5023A>G (p.Met1675Val)	SCN5A	Likely pathogenic	3	38592837	38592837	T	C	criteria provided, single submitter	ClinGen:CA018854
single nucleotide variant	NM_002880.4(RAF1):c.775T>G (p.Ser259Ala)	RAF1	Pathogenic	3	12645694	12645694	A	C	reviewed by expert panel	ClinGen:CA351512423
single nucleotide variant	NM_000335.5(SCN5A):c.4948A>G (p.Met1650Val)	SCN5A	Likely pathogenic	3	38592912	38592912	T	C	criteria provided, single submitter	ClinGen:CA018786
Deletion	NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del	MYBPC3	Likely pathogenic	11	47367758	47373056	na	na	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.42968dup (p.Pro14324fs)	TTN	Likely pathogenic	2	179498031	179498032	C	CT	criteria provided, single submitter	ClinGen:CA658796017
Deletion	NM_003319.4(TTN):c.80003_80028+4del	TTN	Likely pathogenic	2	179393251	179393280	CTTACTGGCAGGTTGTTTTTAAACCATTCGA	C	criteria provided, single submitter	ClinGen:CA658795972
Deletion	NM_001267550.2(TTN):c.73387del (p.Ala24463fs)	TTN	Likely pathogenic	2	179437472	179437472	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796034
single nucleotide variant	NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)	TTN	Likely pathogenic	2	179456938	179456938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA60970456
single nucleotide variant	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3	Pathogenic/Likely pathogenic	10	121411264	121411264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294121