"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3074799	NM_000218.3(KCNQ1):c.1403G>T (p.Ser468Ile)	KCNQ1, KCNQ1OT1 (S288I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1418537	NM_000218.3(KCNQ1):c.1408A>G (p.Thr470Ala)	KCNQ1, KCNQ1OT1 (T343A +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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 413280	NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	not provided +2 more	GUncertain significance
Select item 42486	NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 +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)	Cardiac arrhythmia +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)	Cardiac arrhythmia +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)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 3069749	NM_000218.3(KCNQ1):c.1471C>G (p.Leu491Val)	KCNQ1, KCNQ1OT1 (L311V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 200812	NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
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 922770	NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln)	KCNQ1, KCNQ1OT1 (L369Q +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 925940	NM_000218.3(KCNQ1):c.1497C>T (p.Pro499=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +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)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 3072406	NM_000218.3(KCNQ1):c.1500C>T (p.Ile500=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 3071587	NM_000218.3(KCNQ1):c.1506C>T (p.His502=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance

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Items: 20