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_020778.5(ALPK3):c.2407C>T (p.Gln803Ter)	ALPK3	Likely pathogenic	15	85400376	85400376	C	T	criteria provided, single submitter	ClinGen:CA393357038
single nucleotide variant	NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)	ALPK3	Pathogenic	15	85401144	85401144	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709571,OMIM:617608.0001
Deletion	NM_020778.5(ALPK3):c.423del	ALPK3	Pathogenic/Likely pathogenic	15	85382932	85382932	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798413
Deletion	NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)	ALPK3	Pathogenic/Likely pathogenic	15	85401692	85401692	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709703
single nucleotide variant	NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)	ALPK3	Pathogenic/Likely pathogenic	15	85382318	85382318	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273664439
single nucleotide variant	NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter)	ALPK3	Pathogenic	15	85407861	85407861	G	A	criteria provided, single submitter	OMIM:617608.0003
single nucleotide variant	NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter)	ALPK3	Likely pathogenic	15	85383519	85383519	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)	ALPK3	Pathogenic/Likely pathogenic	15	85401543	85401544	T	TC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_020778.5(ALPK3):c.2237del (p.Gly746fs)	ALPK3	Pathogenic	15	85400204	85400204	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020778.5(ALPK3):c.2938G>T (p.Gly980Ter)	ALPK3	Pathogenic	15	85400907	85400907	G	T	criteria provided, single submitter	-