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
Duplication	NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)	MYBPC3	Pathogenic	11	47365158	47365159	C	CCAGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797638
single nucleotide variant	NM_000256.3(MYBPC3):c.660T>G (p.Tyr220Ter)	MYBPC3	Pathogenic	11	47370087	47370087	A	C	criteria provided, single submitter	ClinGen:CA380336488
Deletion	NM_000256.3(MYBPC3):c.505_505+7del	MYBPC3	Pathogenic	11	47371558	47371565	ACACTCACC	A	criteria provided, single submitter	ClinGen:CA658797645
Deletion	NM_000256.3(MYBPC3):c.480del (p.Pro161fs)	MYBPC3	Pathogenic	11	47371590	47371590	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797646
Duplication	NM_000256.3(MYBPC3):c.405dup (p.Gly136fs)	MYBPC3	Pathogenic	11	47372053	47372054	C	CT	criteria provided, single submitter	ClinGen:CA658797647
single nucleotide variant	NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro)	MYH7	Likely pathogenic	14	23894084	23894084	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257819426
single nucleotide variant	NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu)	SCN5A	Pathogenic	3	38627291	38627291	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)	LMNA	Likely pathogenic	1	156104291	156104291	T	G	criteria provided, single submitter	ClinGen:CA342817035
single nucleotide variant	NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106974	156106974	G	A	criteria provided, single submitter	ClinGen:CA342823348
Deletion	NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs)	TTN	Likely pathogenic	2	179426547	179426548	CTA	C	criteria provided, single submitter	ClinGen:CA658796001