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
Deletion	NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)	SDHA	Pathogenic	5	225598	225598	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657419
Deletion	NM_004168.4(SDHA):c.1769del (p.Gly590fs)	SDHA	Likely pathogenic	5	251555	251555	CG	C	criteria provided, single submitter	ClinGen:CA658657413
single nucleotide variant	NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38671833	38671833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017341,UniProtKB:Q14524#VAR_074322
single nucleotide variant	NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38671832	38671832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017353,UniProtKB:Q14524#VAR_074321
single nucleotide variant	NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	SCN5A	Pathogenic/Likely pathogenic	3	38603913	38603913	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017654,UniProtKB:Q14524#VAR_026375
single nucleotide variant	NM_000335.5(SCN5A):c.3973G>T (p.Ala1325Ser)	SCN5A	Pathogenic	3	38601907	38601907	C	A	criteria provided, single submitter	ClinGen:CA017686,UniProtKB:Q14524#VAR_074735
single nucleotide variant	NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)	SCN5A	Pathogenic/Likely pathogenic	3	38601895	38601895	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017699,UniProtKB:Q14524#VAR_055190
single nucleotide variant	NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu)	SCN5A	Pathogenic	3	38601888	38601888	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017721,UniProtKB:Q14524#VAR_055191
single nucleotide variant	NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)	SCN5A	Likely pathogenic	3	38598048	38598048	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018141,UniProtKB:Q14524#VAR_074443
single nucleotide variant	NM_000335.5(SCN5A):c.4343A>G (p.Tyr1448Cys)	SCN5A	Likely pathogenic	3	38598023	38598023	T	C	criteria provided, single submitter	ClinGen:CA018163,UniProtKB:Q14524#VAR_074446