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_000238.4(KCNH2):c.2419del (p.Glu807fs)	KCNH2	Pathogenic	7	150646117	150646117	TC	T	criteria provided, single submitter	ClinGen:CA006738
single nucleotide variant	NM_000238.4(KCNH2):c.2417G>C (p.Gly806Ala)	KCNH2	Pathogenic	7	150646119	150646119	C	G	criteria provided, single submitter	ClinGen:CA006729
single nucleotide variant	NM_000238.4(KCNH2):c.2398+5G>T	KCNH2	Pathogenic/Likely pathogenic	7	150647251	150647251	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000238.4(KCNH2):c.2398+1G>C	KCNH2	Pathogenic	7	150647255	150647255	C	G	criteria provided, single submitter	OMIM:152427.0003,ClinGen:CA006638
Deletion	NM_000238.4(KCNH2):c.2395del (p.Leu799fs)	KCNH2	Pathogenic	7	150647259	150647259	AG	A	criteria provided, single submitter	ClinGen:CA006579
single nucleotide variant	NM_000238.4(KCNH2):c.2326C>T (p.Leu776Phe)	KCNH2	Likely pathogenic	7	150647328	150647328	G	A	criteria provided, single submitter	ClinGen:CA006448
single nucleotide variant	NM_000238.4(KCNH2):c.2263G>A (p.Ala755Thr)	KCNH2	Likely pathogenic	7	150647391	150647391	C	T	criteria provided, single submitter	ClinGen:CA006406
Deletion	NM_000238.4(KCNH2):c.2115del (p.Trp705fs)	KCNH2	Pathogenic	7	150648039	150648039	AC	A	criteria provided, single submitter	ClinGen:CA006242
single nucleotide variant	NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter)	KCNH2	Pathogenic	7	150648050	150648050	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006236
Deletion	NM_000238.4(KCNH2):c.2084del (p.Gln695fs)	KCNH2	Pathogenic	7	150648070	150648070	CT	C	criteria provided, single submitter	ClinGen:CA006207