肥大型心筋症 - MGenReviews

肥大型心筋症

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_001267550.2(TTN):c.66160+2T>C	TTN	Likely pathogenic	2	179447021	179447021	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1991571
single nucleotide variant	NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)	TTN	Pathogenic/Likely pathogenic	2	179428823	179428823	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604092
Deletion	NM_001267550.2(TTN):c.51883_51892del (p.Lys17295fs)	TTN	Likely pathogenic	2	179474145	179474154	GCTGCACGCTT	G	criteria provided, single submitter	ClinGen:CA10604203
Deletion	NM_001267550.2(TTN):c.70754del (p.Val23585fs)	TTN	Likely pathogenic	2	179440105	179440105	CA	C	criteria provided, single submitter	ClinGen:CA10604246
Insertion	NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)	TTN	Likely pathogenic	2	179414766	179414767	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604323
Indel	Single allele	TTN	Likely pathogenic	2	179433196	179433213	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003673.4(TCAP):c.103G>T (p.Glu35Ter)	TCAP	Pathogenic	17	37821715	37821715	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605419
Deletion	NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs)	TTN	Likely pathogenic	2	179395736	179395737	CCA	C	criteria provided, single submitter	ClinGen:CA10605549
single nucleotide variant	NM_001267550.2(TTN):c.54190+1G>A	TTN	Pathogenic/Likely pathogenic	2	179469713	179469713	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1993679
Deletion	NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)	TTN	Likely pathogenic	2	179474688	179474691	CTACA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605859