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_000256.3(MYBPC3):c.1458-1G>C	MYBPC3	Pathogenic	11	47364296	47364296	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA380325311
Deletion	NM_000256.3(MYBPC3):c.897del (p.Lys301fs)	MYBPC3	Likely pathogenic	11	47368985	47368985	TC	T	criteria provided, single submitter	ClinGen:CA658797643
Duplication	NM_004006.3(DMD):c.7085_7088dup (p.Asp2364fs)	DMD	Likely pathogenic	X	31893314	31893315	A	AAATG	criteria provided, single submitter	ClinGen:CA658799672
single nucleotide variant	NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)	TTN	Pathogenic	2	179655464	179655464	G	A	criteria provided, single submitter	ClinGen:CA349507909
single nucleotide variant	NM_001927.4(DES):c.1151A>G (p.His384Arg)	DES	Likely pathogenic	2	220286189	220286189	A	G	criteria provided, single submitter	ClinGen:CA350694607
Deletion	NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	DES	Pathogenic	2	220288506	220288522	TCTCCCCATCCAGACCTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796176
Deletion	NM_000335.5(SCN5A):c.2343del (p.Gly780_Trp781insTer)	SCN5A	Pathogenic	3	38628984	38628984	TC	T	criteria provided, single submitter	ClinGen:CA016100
single nucleotide variant	NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	LMNA	Likely pathogenic	1	156084768	156084768	C	T	criteria provided, single submitter	ClinGen:CA342807133
Deletion	NM_001267550.2(TTN):c.34922del (p.Pro11641fs)	TTN	Pathogenic	2	179537142	179537142	TG	T	criteria provided, single submitter	ClinGen:CA658796070
single nucleotide variant	NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)	TTN	Likely pathogenic	2	179645884	179645884	C	T	criteria provided, single submitter	ClinGen:CA349483247