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
single nucleotide variant	NM_001267550.2(TTN):c.66464-2A>G	TTN	Likely pathogenic	2	179446533	179446533	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.55121-1G>A	TTN	Likely pathogenic	2	179466878	179466878	C	T	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_8733867)_(8745877_?)del	CAV3	Pathogenic	3	8775553	8787563	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_118548061)_(118559090_?)del	PLN	Pathogenic	6	118869224	118880253	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.2550+2T>C	FLNC	Likely pathogenic	7	128483010	128483010	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.2265+1G>A	FLNC	Likely pathogenic	7	128482429	128482429	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.4127+1G>T	FLNC	Pathogenic	7	128486518	128486518	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.6997+1G>T	FLNC	Likely pathogenic	7	128494737	128494737	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.3627+2T>G	MYBPC3	Pathogenic	11	47354115	47354115	A	C	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47348566)_(47351515_?)del	MYBPC3	Pathogenic	11	47370117	47373066	na	na	criteria provided, single submitter	-