ClinVar for Gene (Select 10984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383201	NM_000218.3(KCNQ1):c.1432del (p.His478fs)	KCNQ1, KCNQ1OT1 (H298fs +4 more)	Deletion (non-coding transcript variant +1 more)	Long QT syndrome 1	GLikely pathogenic
Select item 3356598	NM_000218.3(KCNQ1):c.1393+27598C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3355160	NM_000218.3(KCNQ1):c.1394-7930G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3350529	NR_002728.4(KCNQ1OT1):n.30932T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1OT1-related disorder	GUncertain significance
Select item 3349497	NM_000218.3(KCNQ1):c.1394-32867A>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3349355	NM_000218.3(KCNQ1):c.1514+4974G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3348283	NM_000218.3(KCNQ1):c.1394-24784C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3341930	NM_000218.3(KCNQ1):c.1514+4306G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3341926	NM_000218.3(KCNQ1):c.1394-1594C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3341919	NM_000218.3(KCNQ1):c.1514+16318C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3287732	NM_000218.3(KCNQ1):c.1410A>G (p.Thr470=)	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3257277	NM_000218.3(KCNQ1):c.1514+12838A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257254	NM_000218.3(KCNQ1):c.1393+23728T>C	KCNQ1OT1, KCNQ1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3257252	NM_000218.3(KCNQ1):c.1514+23885G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257246	NM_000218.3(KCNQ1):c.1514+28255G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3257245	NM_000218.3(KCNQ1):c.1514+28197T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3257244	NM_000218.3(KCNQ1):c.1514+37575_1514+37600del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257243	NM_000218.3(KCNQ1):c.1514+32677G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257238	NM_000218.3(KCNQ1):c.1393+27615G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3251185	NM_000218.3(KCNQ1):c.1514+17320G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3251184	NM_000218.3(KCNQ1):c.1514+105A>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250974	NM_000218.3(KCNQ1):c.1393+30898T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250954	NM_000218.3(KCNQ1):c.1394-17223C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250953	NM_000218.3(KCNQ1):c.1394-19895C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250952	NM_000218.3(KCNQ1):c.1394-20249C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250951	NM_000218.3(KCNQ1):c.1394-12529T>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250937	NM_000218.3(KCNQ1):c.1514+37569G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250936	NM_000218.3(KCNQ1):c.1514+34238C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250935	NM_000218.3(KCNQ1):c.1514+20091C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250919	NM_000218.3(KCNQ1):c.1514+13711G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250918	NM_000218.3(KCNQ1):c.1514+5594G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250916	NM_000218.3(KCNQ1):c.1514+28809G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250915	NM_000218.3(KCNQ1):c.1514+17154C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250914	NM_000218.3(KCNQ1):c.1514+5934C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250908	NM_000218.3(KCNQ1):c.1393+21918C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3250907	NM_000218.3(KCNQ1):c.1514+2290G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250906	NM_000218.3(KCNQ1):c.1514+2476G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250905	NM_000218.3(KCNQ1):c.1394-10394C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3250903	NM_000218.3(KCNQ1):c.1393+23060del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250901	NM_000218.3(KCNQ1):c.1393+29127G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250507	NM_000218.3(KCNQ1):c.1514+34356T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3244545	NC_000011.9:g.(?_2683171)_(2799287_?)dup	KCNQ1, KCNQ1OT1	Duplication	Long QT syndrome	GLikely pathogenic
Select item 3244543	NC_000011.9:g.(?_2466329)_(2869233_?)dup	KCNQ1, KCNQ1OT1	Duplication	Long QT syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3239329	NM_000218.3(KCNQ1):c.1514+616G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3234653	NM_000218.3(KCNQ1):c.1514+8413G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3234560	NM_000218.3(KCNQ1):c.1394-3227T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3234549	NM_000218.3(KCNQ1):c.1394-3914A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3234548	NM_000218.3(KCNQ1):c.1514+31602C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3234543	NM_000218.3(KCNQ1):c.1514+36449C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3234539	NM_000218.3(KCNQ1):c.1393+33077_1393+33079del	KCNQ1, KCNQ1OT1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3234536	NM_000218.3(KCNQ1):c.1394-27827dup	KCNQ1, KCNQ1OT1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3234534	NM_000218.3(KCNQ1):c.1394-3656A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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
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 3067767	NM_000218.3(KCNQ1):c.1394-29213G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067766	NM_000218.3(KCNQ1):c.1394-34811G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067765	NM_000218.3(KCNQ1):c.1393+34458G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067544	NM_000218.3(KCNQ1):c.1514+5381T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067541	NM_000218.3(KCNQ1):c.1514+37500G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067540	NM_000218.3(KCNQ1):c.1514+35216A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3067532	NM_000218.3(KCNQ1):c.1514+20104C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067528	NM_000218.3(KCNQ1):c.1514+10147A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067524	NM_000218.3(KCNQ1):c.1394-21667G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067518	NM_000218.3(KCNQ1):c.1514+4890G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067515	NM_000218.3(KCNQ1):c.1394-29303T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3061622	NM_000218.3(KCNQ1):c.1394-22435G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3061515	NM_000218.3(KCNQ1):c.1393+32792C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3060959	NM_000218.3(KCNQ1):c.1514+19202C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3060932	NM_000218.3(KCNQ1):c.1394-9616G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3060692	NM_000218.3(KCNQ1):c.1394-34567G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3060447	NM_000218.3(KCNQ1):c.1394-234C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3060442	NM_000218.3(KCNQ1):c.1514+27511T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3060335	NM_000218.3(KCNQ1):c.1394-36404C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3060233	NM_000218.3(KCNQ1):c.1514+30338C>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3060000	NM_000218.3(KCNQ1):c.1514+27963C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059995	NM_000218.3(KCNQ1):c.1514+9589del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059929	NM_000218.3(KCNQ1):c.1514+2553T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059903	NM_000218.3(KCNQ1):c.1394-18071dup	KCNQ1, KCNQ1OT1	Duplication (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3059860	NM_000218.3(KCNQ1):c.1514+26927G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059817	NM_000218.3(KCNQ1):c.1514+26422T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059785	NM_000218.3(KCNQ1):c.1393+23631G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059658	NM_000218.3(KCNQ1):c.1393+36536A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059445	NM_000218.3(KCNQ1):c.1514+6982A>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3059037	NM_000218.3(KCNQ1):c.1514+7220T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3058925	NM_000218.3(KCNQ1):c.1514+2636C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3058892	NM_000218.3(KCNQ1):c.1393+36433G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3058847	NM_000218.3(KCNQ1):c.1394-21384_1394-21383del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3058008	NM_000218.3(KCNQ1):c.1393+32343C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3057119	NM_000218.3(KCNQ1):c.1394-515G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3056739	NM_000218.3(KCNQ1):c.1514+2565T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3056618	NM_000218.3(KCNQ1):c.1394-12958_1394-12957del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3056570	NM_000218.3(KCNQ1):c.1394-21634C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3056399	NM_000218.3(KCNQ1):c.1514+4774T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3056320	NM_000218.3(KCNQ1):c.1514+37562C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3055910	NM_000218.3(KCNQ1):c.1394-8755G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 3055078	NM_000218.3(KCNQ1):c.1393+23369del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3054938	NM_000218.3(KCNQ1):c.1514+3032C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign

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