不整脈原性右室心筋症

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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_004415.4(DSP):c.699G>A (p.Trp233Ter)	DSP	Pathogenic/Likely pathogenic	6	7562986	7562986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007098
Insertion	NM_004415.4(DSP):c.534_535insA (p.Gly179fs)	DSP	Likely pathogenic	6	7559570	7559571	T	TA	criteria provided, single submitter	ClinGen:CA006444
single nucleotide variant	NM_004415.4(DSP):c.523C>T (p.Gln175Ter)	DSP	Pathogenic/Likely pathogenic	6	7559559	7559559	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_004415.3(DSP):c.491_492delCCins15 (p.?)	DSP	Pathogenic	6	7559527	7559528	na	na	criteria provided, single submitter	-
Indel	NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs)	DSP	Likely pathogenic	6	7559527	7559528	CC	AGCTCGAGTCCCTCG	criteria provided, single submitter	ClinGen:CA006266
single nucleotide variant	NM_004415.4(DSP):c.478C>T (p.Arg160Ter)	DSP	Pathogenic/Likely pathogenic	6	7559514	7559514	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006226
Deletion	NM_004415.4(DSP):c.465del (p.Ile156fs)	DSP	Pathogenic	6	7559500	7559500	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657574
single nucleotide variant	NM_004415.4(DSP):c.423-1G>T	DSP	Pathogenic/Likely pathogenic	6	7559458	7559458	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362671945
Indel	NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter)	DSP	Pathogenic	6	7558404	7558405	GT	AA	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.330_334del (p.Phe111fs)	DSP	Pathogenic	6	7558403	7558407	GTGTTT	G	criteria provided, single submitter	-