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
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_001743.6(CALM2):c.286G>T (p.Asp96Tyr)	CALM2	Pathogenic	2	47388997	47388997	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001743.6(CALM2):c.434T>G (p.Met145Arg)	CALM2	Likely pathogenic	2	47387931	47387931	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	CALM2	Pathogenic	2	47388869	47388869	G	C	criteria provided, single submitter	ClinGen:CA346719008
single nucleotide variant	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	CALM2	Pathogenic	2	47388996	47388996	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA186019,OMIM:114182.0001
single nucleotide variant	NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	CALM2	Pathogenic	2	47388887	47388887	A	C	criteria provided, single submitter	ClinGen:CA186030,UniProtKB:P62158#VAR_073279,OMIM:114182.0005