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_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	FKTN	Pathogenic	9	108380249	108380249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116072,UniProtKB:O75072#VAR_039288,OMIM:607440.0009
single nucleotide variant	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN	Pathogenic	9	108380248	108380248	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116088,OMIM:607440.0018
single nucleotide variant	NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	BAG3	Pathogenic	10	121431885	121431885	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA308228,UniProtKB:O95817#VAR_063089,OMIM:603883.0001
Deletion	NM_000337.6(SGCD):c.657del (p.Thr220fs)	SGCD	Pathogenic	5	156184672	156184672	GC	G	criteria provided, single submitter	OMIM:601411.0001
single nucleotide variant	NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)	SGCD	Pathogenic	5	156022052	156022052	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340747,OMIM:601411.0002
single nucleotide variant	NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)	SGCD	Pathogenic	5	155771584	155771584	G	A	criteria provided, single submitter	ClinGen:CA340750,OMIM:601411.0003
Duplication	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Pathogenic/Likely pathogenic	11	47353677	47353678	T	TGCAGACATAGATGCCCCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA014796,OMIM:600958.0002
single nucleotide variant	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3	Pathogenic	11	47364129	47364129	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010806,OMIM:600958.0006
single nucleotide variant	NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47354789	47354789	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013793,OMIM:600958.0014
single nucleotide variant	NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	MYBPC3	Pathogenic/Likely pathogenic	11	47359085	47359085	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012326,UniProtKB:Q14896#VAR_029416,OMIM:600958.0015