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_003239.5(TGFB3):c.989G>A (p.Trp330Ter)	TGFB3	Pathogenic	14	76427357	76427357	C	T	criteria provided, single submitter	ClinGen:CA390467972
single nucleotide variant	NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76427373	76427373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390468002
single nucleotide variant	NM_003239.5(TGFB3):c.353-1G>C	TGFB3	Likely pathogenic	14	76438062	76438062	C	G	criteria provided, single submitter	ClinGen:CA390470382
Duplication	NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)	TGFB3	Likely pathogenic	14	76429691	76429692	C	CTTCCTCTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656426
single nucleotide variant	NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)	TGFB3	Likely pathogenic	14	76425574	76425574	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390466754
Duplication	NM_003239.5(TGFB3):c.321dup (p.Phe108fs)	TGFB3	Pathogenic	14	76446915	76446916	A	AT	criteria provided, single submitter	ClinGen:CA658653821
single nucleotide variant	NM_003239.5(TGFB3):c.1020T>A (p.Tyr340Ter)	TGFB3	Pathogenic	14	76427326	76427326	A	T	criteria provided, single submitter	ClinGen:CA390467810
Deletion	NM_003239.5(TGFB3):c.883_884del (p.Gly295fs)	TGFB3	Pathogenic	14	76429701	76429702	ACC	A	criteria provided, single submitter	ClinGen:CA16614471
single nucleotide variant	NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76427312	76427312	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614244
single nucleotide variant	NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76437972	76437972	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607024