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_170707.4(LMNA):c.871G>A (p.Glu291Lys)	LMNA	Pathogenic	1	156105038	156105038	G	A	criteria provided, single submitter	ClinGen:CA018791
Duplication	NM_170707.4(LMNA):c.973dup (p.Asp325fs)	LMNA	Pathogenic	1	156105726	156105727	A	AG	criteria provided, single submitter	ClinGen:CA306282
Deletion	NM_170707.4(LMNA):c.978_979del (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	TCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018921
single nucleotide variant	NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)	LMNA	Pathogenic	1	156105812	156105812	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016519
single nucleotide variant	NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)	LMNA	Pathogenic	1	156106732	156106732	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017193
single nucleotide variant	NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106975	156106975	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017446
single nucleotide variant	NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)	LMNA	Likely pathogenic	1	156106977	156106977	G	T	criteria provided, single submitter	ClinGen:CA017452
Indel	NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs)	DSG2	Likely pathogenic	18	29099770	29099771	TA	ATTCTATTGTTGTGCTATTGTTAT	criteria provided, single submitter	ClinGen:CA022311
single nucleotide variant	NM_001943.5(DSG2):c.152G>C (p.Trp51Ser)	DSG2	Likely pathogenic	18	29099836	29099836	G	C	criteria provided, single submitter	ClinGen:CA021444
Insertion	NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)	DSG2	Pathogenic	18	29101147	29101148	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA022113