カテコラミン誘発性多形性心室頻拍

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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_006073.4(TRDN):c.529A>T (p.Lys177Ter)	TRDN	Pathogenic	6	123837307	123837307	T	A	criteria provided, single submitter	-
Duplication	NM_006073.4(TRDN):c.573dup (p.Lys192fs)	TRDN	Pathogenic	6	123833484	123833485	T	TC	criteria provided, single submitter	ClinGen:CA658796816
single nucleotide variant	NM_006073.4(TRDN):c.232+2T>A	TRDN	Pathogenic	6	123892066	123892066	A	T	criteria provided, single submitter	ClinGen:CA365569008
Deletion	NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)	TRDN	Pathogenic	6	123851693	123851697	GTCTTA	G	criteria provided, single submitter	ClinGen:CA3984381
Deletion	NM_006073.4(TRDN):c.618del (p.Ala208fs)	TRDN	Pathogenic	6	123825039	123825039	TC	T	criteria provided, single submitter	ClinGen:CA16611945
Duplication	NM_006073.4(TRDN):c.568dup (p.Ile190fs)	TRDN	Pathogenic/Likely pathogenic	6	123833489	123833490	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293872
single nucleotide variant	NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)	TRDN	Pathogenic	6	123825044	123825044	G	A	criteria provided, multiple submitters, no conflicts	OMIM:603283.0003,ClinGen:CA144820
Deletion	NM_006073.4(TRDN):c.53_56del (p.Asp18fs)	TRDN	Pathogenic	6	123892244	123892247	GCTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3984487,OMIM:603283.0001
single nucleotide variant	NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)	TECRL	Likely pathogenic	4	65175614	65175614	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2935458,OMIM:617242.0002
single nucleotide variant	NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)	RYR2	Likely pathogenic	1	237993857	237993857	A	C	criteria provided, single submitter	-