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
Deletion	NM_001267550.2(TTN):c.97470_97492+248del	TTN	Likely pathogenic	2	179406743	179407013	AACTCCCTCCTCTTCTCTTTCATAAGAGTGAAGATATTAAAAAAAAAATCAAGCCTAAGTGTGTTGAAAACCTCTGAGAAAAGGAGGTTTAGAAACCTGAGAAAAGGAGGTTTAGAAACCTTAGAAAGACCACAGGGTTAATTTTGTGACCTATTTTTATTTACATTAGGGCATATTAAAAACAAATTCTTTTTTGTTAACATTCAGAATCAGAGGTGGGGAGAGTGGTGGAAGGGCCTGTGGACTTACGGATGCTGCTGCGACACTCTATG	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)	TTN	Likely pathogenic	2	179413694	179413701	TGTAGATCA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.89625del (p.Asp29876fs)	TTN	Likely pathogenic	2	179418002	179418002	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)	TTN	Pathogenic/Likely pathogenic	2	179429136	179429136	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)	TTN	Likely pathogenic	2	179396571	179396571	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.65505del (p.Ile21835fs)	TTN	Likely pathogenic	2	179448404	179448404	CA	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.59763del (p.Ser19921fs)	TTN	Likely pathogenic	2	179456868	179456868	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.99063del (p.Lys33021fs)	TTN	Pathogenic/Likely pathogenic	2	179403493	179403493	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)	TTN	Likely pathogenic	2	179468996	179468996	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs)	TTN	Likely pathogenic	2	179416629	179416630	A	ATAAC	criteria provided, single submitter	-