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_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.286G>T (p.Asp96Tyr)	CALM2	Pathogenic	2	47388997	47388997	C	A	criteria provided, single submitter	-
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_006888.6(CALM1):c.88A>C (p.Thr30Pro)	CALM1	Likely pathogenic	14	90867656	90867656	A	C	criteria provided, single submitter	ClinGen:CA16606882
single nucleotide variant	NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	CALM1	Likely pathogenic	14	90867729	90867729	A	T	criteria provided, single submitter	ClinGen:CA343809,UniProtKB:P62158#VAR_069222,OMIM:114180.0001
single nucleotide variant	NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)	CALM1	Likely pathogenic	14	90870295	90870295	T	C	criteria provided, single submitter	ClinGen:CA186017,UniProtKB:P62158#VAR_073275,OMIM:114180.0005
single nucleotide variant	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	CALM1	Pathogenic/Likely pathogenic	14	90870730	90870730	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343812,UniProtKB:P62158#VAR_069223,OMIM:114180.0002
single nucleotide variant	NM_006888.6(CALM1):c.313G>A (p.Glu105Lys)	CALM1	Likely pathogenic	14	90870750	90870750	G	A	criteria provided, single submitter	ClinGen:CA16606883
single nucleotide variant	NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)	CALM1	Pathogenic/Likely pathogenic	14	90870826	90870826	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA186013,UniProtKB:P62158#VAR_073278,OMIM:114180.0003
single nucleotide variant	NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)	CALM1	Pathogenic	14	90870831	90870831	G	A	criteria provided, single submitter	-