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_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Pathogenic	3	14183165	14183165	C	T	criteria provided, multiple submitters, no conflicts	OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438
Deletion	NC_000014.9:g.(?_75958692)_(75971728_?)del	TGFB3	Likely pathogenic	14	76425035	76438071	na	na	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_75958692)_(75965705_?)del	TGFB3	Likely pathogenic	14	76425035	76432048	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003239.5(TGFB3):c.514C>T (p.Gln172Ter)	TGFB3	Likely pathogenic	14	76437900	76437900	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003239.5(TGFB3):c.755-1G>C	TGFB3	Likely pathogenic	14	76429831	76429831	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_003239.5(TGFB3):c.517-1G>C	TGFB3	Likely pathogenic	14	76437599	76437599	C	G	criteria provided, single submitter	-
Deletion	NM_003239.5(TGFB3):c.916del (p.Tyr306fs)	TGFB3	Likely pathogenic	14	76429669	76429669	TA	T	criteria provided, single submitter	ClinGen:CA658798232
Deletion	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3	Pathogenic/Likely pathogenic	14	76425664	76425667	TTCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798230
single nucleotide variant	NM_003239.5(TGFB3):c.106A>T (p.Lys36Ter)	TGFB3	Pathogenic	14	76447131	76447131	T	A	criteria provided, single submitter	ClinGen:CA390471648
single nucleotide variant	NM_003239.5(TGFB3):c.927-1G>C	TGFB3	Likely pathogenic	14	76427420	76427420	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7280296