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_003673.4(TCAP):c.26_33dup (p.Glu12fs)	TCAP	Pathogenic	17	37821635	37821636	G	GCGAGGTGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8532818
Deletion	NM_003673.4(TCAP):c.90_91del (p.Ser31fs)	TCAP	Likely pathogenic	17	37821701	37821702	CTG	C	criteria provided, single submitter	ClinGen:CA658656575
single nucleotide variant	NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)	TCAP	Pathogenic/Likely pathogenic	17	37821678	37821678	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606859
Duplication	NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer)	TCAP	Pathogenic/Likely pathogenic	17	37821653	37821654	A	ACTGTGAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606734
single nucleotide variant	NM_003673.4(TCAP):c.103G>T (p.Glu35Ter)	TCAP	Pathogenic	17	37821715	37821715	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605419
Duplication	NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter)	TCAP	Likely pathogenic	17	37821636	37821637	C	CGAGGTGT	criteria provided, single submitter	ClinGen:CA278947
single nucleotide variant	NM_003673.4(TCAP):c.110+5G>T	TCAP	Likely pathogenic	17	37821727	37821727	G	T	criteria provided, single submitter	ClinGen:CA308852
Deletion	NM_003673.4(TCAP):c.110_110+1del	TCAP	Pathogenic	17	37821720	37821721	AGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117570,OMIM:604488.0002
single nucleotide variant	NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)	TCAP	Pathogenic/Likely pathogenic	17	37822015	37822015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117567,OMIM:604488.0001
Deletion	NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)	ALPK3	Pathogenic/Likely pathogenic	15	85406125	85406125	GA	G	criteria provided, multiple submitters, no conflicts	-