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.91476T>G (p.Tyr30492Ter)	TTN	Likely pathogenic	2	179415782	179415782	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273585
Deletion	NM_001267550.2(TTN):c.83603del (p.Gly27868fs)	TTN	Likely pathogenic	2	179427256	179427256	TC	T	criteria provided, single submitter	ClinGen:CA273641
single nucleotide variant	NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter)	TTN	Likely pathogenic	2	179428086	179428086	C	T	criteria provided, single submitter	ClinGen:CA273672
Deletion	NM_001267550.2(TTN):c.81886del (p.Glu27296fs)	TTN	Pathogenic/Likely pathogenic	2	179428973	179428973	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273253
Deletion	NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)	TTN	Likely pathogenic	2	179429847	179429862	TTTGGCAGCCACCAGTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273254
Duplication	NM_003319.4(TTN):c.50226dup (p.Ser16743fs)	TTN	Likely pathogenic	2	179433437	179433438	T	TG	criteria provided, single submitter	ClinGen:CA273537
Deletion	NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)	TTN	Likely pathogenic	2	179478809	179478828	GCCTGAACTGGTTCACCAACA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273619
Deletion	NM_001267550.2(TTN):c.106019del (p.Gly35340fs)	TTN	Pathogenic	2	179395323	179395323	AC	A	criteria provided, multiple submitters, no conflicts	ClinVar:178839
Deletion	NM_001267550.2(TTN):c.71634del (p.Ala23879fs)	TTN	Likely pathogenic	2	179439225	179439225	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273255
Deletion	NM_001267550.2(TTN):c.70275del (p.Ser23425fs)	TTN	Likely pathogenic	2	179440584	179440584	CA	C	criteria provided, single submitter	ClinGen:CA273590