特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_170707.4(LMNA):c.618C>A (p.Phe206Leu)	LMNA	Likely pathogenic	1	156104298	156104298	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs)	LMNA	Likely pathogenic	1	156106109	156106110	CTG	C	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1579del (p.Arg527fs)	LMNA	Likely pathogenic	1	156106994	156106994	GC	G	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.105186dup (p.Ala35063fs)	TTN	Likely pathogenic	2	179396155	179396156	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)	TTN	Likely pathogenic	2	179399399	179399399	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.100411_100412del (p.Asn33471fs)	TTN	Likely pathogenic	2	179401062	179401063	ATT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)	TTN	Likely pathogenic	2	179411488	179411488	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.90562_90566del (p.Thr30188fs)	TTN	Likely pathogenic	2	179417061	179417065	CAAAGT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter)	TTN	Likely pathogenic	2	179417083	179417083	T	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.89553del (p.Ala29853fs)	TTN	Likely pathogenic	2	179418074	179418074	TG	T	criteria provided, multiple submitters, no conflicts	-