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_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.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.426C>G (p.Phe142Leu)	CALM1	Pathogenic	14	90871037	90871037	C	G	criteria provided, single submitter	ClinGen:CA186015,UniProtKB:P62158#VAR_073282,OMIM:114180.0004
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.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.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_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