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
Deletion	NM_001943.5(DSG2):c.601_605del (p.Val201fs)	DSG2	Pathogenic	18	29102120	29102124	AATCGT	A	criteria provided, single submitter	ClinGen:CA022208
single nucleotide variant	NM_001943.5(DSG2):c.769C>T (p.Gln257Ter)	DSG2	Pathogenic	18	29104489	29104489	C	T	criteria provided, single submitter	ClinGen:CA022251
single nucleotide variant	NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter)	DSG2	Pathogenic	18	29118812	29118812	C	T	criteria provided, single submitter	ClinGen:CA021541
single nucleotide variant	NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter)	DSG2	Likely pathogenic	18	29122796	29122796	T	G	criteria provided, single submitter	ClinGen:CA021750
single nucleotide variant	NM_001103.4(ACTN2):c.2527-1G>A	ACTN2	Pathogenic	1	236925760	236925760	G	A	criteria provided, single submitter	ClinGen:CA335020
single nucleotide variant	NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter)	ACTN2	Pathogenic	1	236925812	236925812	C	T	criteria provided, single submitter	ClinGen:CA335049
single nucleotide variant	NM_144573.4(NEXN):c.1935C>G (p.Phe645Leu)	NEXN	Likely pathogenic	1	78408421	78408421	C	G	criteria provided, single submitter	ClinGen:CA335445
single nucleotide variant	NM_001927.4(DES):c.364T>G (p.Tyr122Asp)	DES	Likely pathogenic	2	220283548	220283548	T	G	criteria provided, single submitter	ClinGen:CA308313
single nucleotide variant	NM_001927.4(DES):c.634C>T (p.Arg212Ter)	DES	Pathogenic/Likely pathogenic	2	220284872	220284872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA308316
single nucleotide variant	NM_001927.4(DES):c.1371+1G>C	DES	Likely pathogenic	2	220290468	220290468	G	C	criteria provided, single submitter	ClinGen:CA308297