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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	not provided +2 more	GLikely benign
Select item 42485	NM_000218.3(KCNQ1):c.1394-14C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Short QT syndrome type 2 +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)	not provided +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)	Long QT syndrome +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)	Long QT syndrome +1 more	GUncertain significance
Select item 456857	NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +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)	not provided +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)	Long QT syndrome +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)	Short QT syndrome type 2 +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)	Jervell and Lange-Nielsen syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 516127	NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome +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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 200849	NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)	KCNQ1, KCNQ1OT1 (D361E +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 919982	NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +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 +1 more	GUncertain significance
Select item 200812	NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +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)	Long QT syndrome +3 more	GPathogenic
Select item 922770	NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln)	KCNQ1, KCNQ1OT1 (L369Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Long QT syndrome +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)	Cardiovascular phenotype +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)	Short QT syndrome +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41