"Color Diagnostics, LLC DBA Color Health"[submitter] AND "KCNQ1OT1"[ge - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 629070	NM_000218.3(KCNQ1):c.1394-13_1394-12del	KCNQ1, KCNQ1OT1	Microsatellite (intron variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 42485	NM_000218.3(KCNQ1):c.1394-14C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 880151	NM_000218.3(KCNQ1):c.1394-13A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity
Select item 138004	NM_000218.3(KCNQ1):c.1394-8C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Congenital long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 925171	NM_000218.3(KCNQ1):c.1394-6C>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 200847	NM_000218.3(KCNQ1):c.1394-1G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 1172101	NM_000218.3(KCNQ1):c.1402A>G (p.Ser468Gly)	KCNQ1, KCNQ1OT1 (S341G +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 920733	NM_000218.3(KCNQ1):c.1409C>T (p.Thr470Ile)	KCNQ1, KCNQ1OT1 (T343I +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 927886	NM_000218.3(KCNQ1):c.1411C>A (p.Leu471Met)	KCNQ1, KCNQ1OT1 (L344M +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 927487	NM_000218.3(KCNQ1):c.1415T>C (p.Leu472Pro)	KCNQ1, KCNQ1OT1 (L345P +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 456857	NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 923431	NM_000218.3(KCNQ1):c.1427T>C (p.Met476Thr)	KCNQ1, KCNQ1OT1 (M349T +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GLikely benign
Select item 919245	NM_000218.3(KCNQ1):c.1429C>T (p.Pro477Ser)	KCNQ1, KCNQ1OT1 (P350S +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 413280	NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +8 more	GBenign/Likely benign
Select item 924594	NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu)	KCNQ1, KCNQ1OT1 (F352L +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 926196	NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs)	KCNQ1, KCNQ1OT1 (D488fs +4 more)	Duplication (frameshift variant)	Cardiac arrhythmia	GPathogenic
Select item 927990	NM_000218.3(KCNQ1):c.1442G>A (p.Arg481Lys)	KCNQ1, KCNQ1OT1 (R354K +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 928366	NM_000218.3(KCNQ1):c.1443A>G (p.Arg481=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
Select item 413277	NM_000218.3(KCNQ1):c.1446C>T (p.Thr482=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 456858	NM_000218.3(KCNQ1):c.1448A>G (p.Asn483Ser)	KCNQ1, KCNQ1OT1 (N483S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 927801	NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys)	KCNQ1, KCNQ1OT1 (N483K +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 1172020	NM_000218.3(KCNQ1):c.1454T>C (p.Phe485Ser)	KCNQ1, KCNQ1OT1 (F358S +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 42486	NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +9 more	GBenign/Likely benign
Select item 925996	NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)	KCNQ1, KCNQ1OT1 (A359T +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GUncertain significance
Select item 516127	NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GLikely benign
Select item 927423	NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys)	KCNQ1, KCNQ1OT1 (E487K +4 more)	Single nucleotide variant (missense variant)	KCNQ1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 200849	NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)	KCNQ1, KCNQ1OT1 (D361E +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 919982	NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 922460	NM_000218.3(KCNQ1):c.1469A>G (p.Asp490Gly)	KCNQ1, KCNQ1OT1 (D490G +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 200812	NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 2773479	NM_000218.3(KCNQ1):c.1478G>A (p.Gly493Glu)	KCNQ1, KCNQ1OT1 (G313E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 2773480	NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter)	KCNQ1, KCNQ1OT1 (E314* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GPathogenic/Likely pathogenic
Select item 52983	NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)	KCNQ1, KCNQ1OT1 (L369fs +4 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 922770	NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln)	KCNQ1, KCNQ1OT1 (L369Q +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 921824	NM_000218.3(KCNQ1):c.1493C>T (p.Thr498Ile)	KCNQ1, KCNQ1OT1 (T371I +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 1564107	NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 925940	NM_000218.3(KCNQ1):c.1497C>T (p.Pro499=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 666841	NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val)	KCNQ1, KCNQ1OT1 (I373V +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 629752	NM_000218.3(KCNQ1):c.1498A>C (p.Ile500Leu)	KCNQ1, KCNQ1OT1 (I500L +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 304226	NM_000218.3(KCNQ1):c.1514+3G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +7 more	GConflicting classifications of pathogenicity
Select item 1332299	NM_000218.3(KCNQ1):c.1514+5G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance

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Items: 41