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
single nucleotide variant	NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter)	KCNE1	Likely pathogenic	21	35821665	35821665	T	A	criteria provided, single submitter	-
Deletion	NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del)	KCNE1	Likely pathogenic	21	35821753	35821767	TGCCCAGGGTGAAGAA	T	criteria provided, single submitter	-
Deletion	NM_000219.6(KCNE1):c.202_205del (p.Ser68fs)	KCNE1	Likely pathogenic	21	35821728	35821731	TTGGA	T	criteria provided, single submitter	ClinGen:CA658799410
single nucleotide variant	NM_000219.6(KCNE1):c.217C>T (p.His73Tyr)	KCNE1	Likely pathogenic	21	35821716	35821716	G	A	criteria provided, single submitter	ClinGen:CA16620987
single nucleotide variant	NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter)	KCNE1	Likely pathogenic	21	35821671	35821671	G	A	criteria provided, single submitter	ClinGen:CA10588708
Indel	NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro)	KCNE1	Likely pathogenic	21	35821756	35821761	CAGGGT	AGGGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA085426,OMIM:176261.0001
Duplication	NM_033337.3(CAV3):c.366dup (p.Leu123fs)	CAV3	Likely pathogenic	3	8787462	8787463	C	CA	criteria provided, single submitter	ClinGen:CA658796224
single nucleotide variant	NM_033337.3(CAV3):c.303G>C (p.Trp101Cys)	CAV3	Likely pathogenic	3	8787400	8787400	G	C	criteria provided, single submitter	ClinGen:CA10588372
single nucleotide variant	NM_033337.3(CAV3):c.251T>C (p.Leu84Pro)	CAV3	Likely pathogenic	3	8787348	8787348	T	C	criteria provided, single submitter	ClinGen:CA295938
single nucleotide variant	NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)	CAV3	Likely pathogenic	3	8787280	8787280	C	A	criteria provided, single submitter	ClinGen:CA215181,Leiden Muscular Dystrophy (CAV3):CAV3_00039,UniProtKB:P56539#VAR_026696