肥大型心筋症 - MGenReviews

肥大型心筋症

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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_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)	TTN	Pathogenic/Likely pathogenic	2	179435222	179435223	C	CAACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796030
Duplication	NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs)	TTN	Pathogenic	2	179458458	179458459	A	ACC	criteria provided, single submitter	ClinGen:CA658796043
Deletion	NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs)	MYH6	Pathogenic	14	23863493	23863500	TGAAGGCCC	T	criteria provided, single submitter	ClinGen:CA658798170
single nucleotide variant	NM_002471.4(MYH6):c.2162G>A (p.Arg721Gln)	MYH6	Likely pathogenic	14	23866178	23866178	C	T	criteria provided, single submitter	ClinGen:CA7115577
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_003673.4(TCAP):c.34dup (p.Glu12fs)	TCAP	Pathogenic/Likely pathogenic	17	37821644	37821645	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798823
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
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