特発性拡張型心筋症

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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_005159.5(ACTC1):c.952G>A (p.Glu318Lys)	ACTC1	Likely pathogenic	15	35083353	35083353	C	T	criteria provided, single submitter	ClinGen:CA020006
Deletion	NM_005159.5(ACTC1):c.275_277del (p.Phe92del)	ACTC1	Likely pathogenic	15	35085623	35085625	TAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019727
single nucleotide variant	NM_001018005.2(TPM1):c.276C>G (p.Ile92Met)	TPM1	Pathogenic	15	63349219	63349219	C	G	criteria provided, single submitter	ClinGen:CA018813
single nucleotide variant	NM_001018005.2(TPM1):c.625G>A (p.Ala209Thr)	TPM1	Likely pathogenic	15	63353973	63353973	G	A	criteria provided, single submitter	ClinGen:CA018213
single nucleotide variant	NM_000363.5(TNNI3):c.617A>T (p.Lys206Ile)	TNNI3	Pathogenic	19	55663218	55663218	T	A	criteria provided, single submitter	ClinGen:CA022085
single nucleotide variant	NM_000363.5(TNNI3):c.616A>G (p.Lys206Glu)	TNNI3	Pathogenic	19	55663219	55663219	T	C	criteria provided, single submitter	ClinGen:CA022079
single nucleotide variant	NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys)	TNNI3	Likely pathogenic	19	55663253	55663253	G	C	criteria provided, single submitter	ClinGen:CA022000
single nucleotide variant	NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser)	TNNI3	Likely pathogenic	19	55663254	55663254	T	C	criteria provided, single submitter	ClinGen:CA021995
single nucleotide variant	NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn)	TNNI3	Likely pathogenic	19	55663256	55663256	C	A	criteria provided, single submitter	ClinGen:CA021989
single nucleotide variant	NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser)	TNNI3	Likely pathogenic	19	55663281	55663281	T	C	criteria provided, single submitter	ClinGen:CA021896