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.6850C>T (p.Arg2284Ter)	DSP	Pathogenic	6	7584345	7584345	C	T	criteria provided, single submitter	ClinGen:CA007041
single nucleotide variant	NM_004415.4(DSP):c.6907G>C (p.Asp2303His)	DSP	Likely pathogenic	6	7584402	7584402	G	C	criteria provided, single submitter	ClinGen:CA007083
Deletion	NM_004415.4(DSP):c.6937del (p.Glu2313fs)	DSP	Pathogenic/Likely pathogenic	6	7584431	7584431	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007091
Duplication	NM_004415.4(DSP):c.7873dup (p.Thr2625fs)	DSP	Pathogenic	6	7585367	7585368	C	CA	criteria provided, single submitter	ClinGen:CA303946
Deletion	NM_004415.4(DSP):c.8156del (p.Pro2719fs)	DSP	Pathogenic	6	7585649	7585649	TC	T	criteria provided, single submitter	-
Deletion	NM_024422.6(DSC2):c.2487del (p.Phe829fs)	DSC2	Likely pathogenic	18	28648881	28648881	TA	T	criteria provided, single submitter	ClinGen:CA022741
Indel	NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs)	DSG2	Likely pathogenic	18	29099770	29099771	TA	ATTCTATTGTTGTGCTATTGTTAT	criteria provided, single submitter	ClinGen:CA022311
single nucleotide variant	NM_001943.5(DSG2):c.152G>C (p.Trp51Ser)	DSG2	Likely pathogenic	18	29099836	29099836	G	C	criteria provided, single submitter	ClinGen:CA021444
Insertion	NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)	DSG2	Pathogenic	18	29101147	29101148	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA022113
Deletion	NM_001943.5(DSG2):c.601_605del (p.Val201fs)	DSG2	Pathogenic	18	29102120	29102124	AATCGT	A	criteria provided, single submitter	ClinGen:CA022208