先天性QT延長症候群

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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_000218.3(KCNQ1):c.165_187del (p.Gly57fs)	KCNQ1	Pathogenic	11	2466490	2466512	TCGCGCCCGGCGCCCCAGGTCCCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006108
Deletion	NM_000218.3(KCNQ1):c.200del (p.Pro67fs)	KCNQ1	Pathogenic	11	2466525	2466525	TC	T	criteria provided, single submitter	ClinGen:CA16613554
Deletion	NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2466525	2466535	TCCCCGGCCGCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656109
single nucleotide variant	NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)	KCNQ1	Likely pathogenic	11	2466649	2466649	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)	KCNQ1	Pathogenic	11	2466660	2466660	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006810,UniProtKB:P51787#VAR_009918
single nucleotide variant	NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)	KCNQ1	Likely pathogenic	11	2466669	2466669	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006819
single nucleotide variant	NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)	KCNQ1	Likely pathogenic	11	2466672	2466672	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006838,UniProtKB:P51787#VAR_068288
single nucleotide variant	NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser)	KCNQ1	Likely pathogenic	11	2466677	2466677	C	T	criteria provided, single submitter	ClinGen:CA10586353
single nucleotide variant	NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)	KCNQ1	Likely pathogenic	11	2466678	2466678	C	T	criteria provided, single submitter	ClinGen:CA006854,UniProtKB:P51787#VAR_074932,OMIM:607542.0030
Duplication	NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2466691	2466692	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA277170