ClinVar for Gene (Select 3786) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1390

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362321	NM_004519.4(KCNQ3):c.2519C>T (p.Thr840Ile)	KCNQ3 (T720I +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 3360097	NM_004519.4(KCNQ3):c.1418G>T (p.Arg473Leu)	KCNQ3 (R353L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360029	NM_004519.4(KCNQ3):c.2066A>C (p.Glu689Ala)	KCNQ3 (E569A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345766	NM_004519.4(KCNQ3):c.1565T>A (p.Val522Asp)	KCNQ3 (V402D +1 more)	Single nucleotide variant (missense variant)	KCNQ3-related disorder	GUncertain significance
Select item 3343800	NM_004519.4(KCNQ3):c.1306C>G (p.Arg436Gly)	KCNQ3 (R316G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343683	NM_004519.4(KCNQ3):c.2350C>T (p.Arg784Ter)	KCNQ3 (R664* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343012	NM_004519.4(KCNQ3):c.134T>A (p.Leu45Gln)	KCNQ3 (L45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342658	NM_004519.4(KCNQ3):c.844G>T (p.Val282Phe)	KCNQ3 (V162F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340761	NM_004519.4(KCNQ3):c.1141-2A>C	KCNQ3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3338725	NM_004519.4(KCNQ3):c.1003A>G (p.Thr335Ala)	KCNQ3 (T215A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287736	NM_004519.4(KCNQ3):c.109G>T (p.Gly37Cys)	KCNQ3 (G37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287735	NM_004519.4(KCNQ3):c.870T>G (p.Asp290Glu)	KCNQ3 (D170E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287734	NM_004519.4(KCNQ3):c.1765T>C (p.Ser589Pro)	KCNQ3 (S589P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256848	NM_004519.4(KCNQ3):c.386+49786C>G	KCNQ3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3252984	NM_004519.4(KCNQ3):c.36_42dup (p.Gly15fs)	KCNQ3 (G15fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3245518	NC_000008.10:g.(?_133492374)_(134296554_?)dup	CCN4, DNAAF11 +6 more	Duplication	Benign neonatal seizures	GUncertain significance
Select item 3245517	NC_000008.10:g.(?_133141509)_(133198448_?)del	KCNQ3	Deletion	Benign neonatal seizures	GUncertain significance
Select item 3242591	NM_004519.4(KCNQ3):c.926G>C (p.Trp309Ser)	KCNQ3 (W189S +1 more)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3235793	NM_004519.4(KCNQ3):c.328_329del (p.Leu110fs)	KCNQ3 (L110fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3113465	NM_004519.4(KCNQ3):c.2403G>T (p.Glu801Asp)	KCNQ3 (E681D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113463	NM_004519.4(KCNQ3):c.2092A>G (p.Ser698Gly)	KCNQ3 (S578G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113462	NM_004519.4(KCNQ3):c.196A>T (p.Thr66Ser)	KCNQ3 (T66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113461	NM_004519.4(KCNQ3):c.1721C>T (p.Pro574Leu)	KCNQ3 (P454L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063051	GRCh37/hg19 8q24.22(chr8:132812615-133245950)x3	EFR3A, HHLA1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3036177	NM_004519.4(KCNQ3):c.2047A>G (p.Ile683Val)	KCNQ3 (I563V +1 more)	Single nucleotide variant (missense variant)	KCNQ3-related disorder	GUncertain significance
Select item 3036128	NM_004519.4(KCNQ3):c.52G>A (p.Gly18Arg)	KCNQ3 (G18R)	Single nucleotide variant (missense variant)	KCNQ3-related disorder	GUncertain significance
Select item 3029775	NM_004519.4(KCNQ3):c.-148_-147insTGG	KCNQ3	Insertion (5 prime UTR variant)	KCNQ3-related disorder	GLikely benign
Select item 3029160	NM_004519.4(KCNQ3):c.-145G>T	KCNQ3	Single nucleotide variant (5 prime UTR variant)	KCNQ3-related disorder	GLikely benign
Select item 3027280	NM_004519.4(KCNQ3):c.1515C>T (p.Asp505=)	KCNQ3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026975	NM_004519.4(KCNQ3):c.60C>T (p.Gly20=)	KCNQ3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024717	NM_004519.4(KCNQ3):c.386+32944G>A	KCNQ3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GML, KCNQ3 +173 more	Copy number gain	not provided	GPathogenic
Select item 3020597	NM_004519.4(KCNQ3):c.1483C>T (p.Pro495Ser)	KCNQ3 (P495S +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 3020173	NM_004519.4(KCNQ3):c.1559G>C (p.Arg520Pro)	KCNQ3 (R400P +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 3019456	NM_004519.4(KCNQ3):c.1799+15C>T	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 3016550	NM_004519.4(KCNQ3):c.4G>A (p.Gly2Arg)	KCNQ3 (G2R)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 3011016	NM_004519.4(KCNQ3):c.1938C>G (p.His646Gln)	KCNQ3 (H526Q +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 3009366	NM_004519.4(KCNQ3):c.2537C>G (p.Thr846Arg)	KCNQ3 (T726R +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 3005326	NM_004519.4(KCNQ3):c.2415T>C (p.Ser805=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 3005208	NM_004519.4(KCNQ3):c.356G>A (p.Arg119Gln)	KCNQ3 (R119Q)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 3003388	NM_004519.4(KCNQ3):c.1860G>A (p.Gly620=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 3002169	NM_004519.4(KCNQ3):c.2134T>A (p.Phe712Ile)	KCNQ3 (F712I +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 3001598	NM_004519.4(KCNQ3):c.2373C>T (p.Ser791=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2999725	NM_004519.4(KCNQ3):c.1071C>T (p.Leu357=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2998628	NM_004519.4(KCNQ3):c.2235C>T (p.Pro745=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2998542	NM_004519.4(KCNQ3):c.27_35dup (p.Gly13_Gly14insAlaAlaGly)	KCNQ3	Duplication (inframe_insertion)	Benign neonatal seizures	GUncertain significance
Select item 2989346	NM_004519.4(KCNQ3):c.304G>T (p.Ala102Ser)	KCNQ3 (A102S)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2981599	NM_004519.4(KCNQ3):c.387-16C>A	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2980507	NM_004519.4(KCNQ3):c.148G>A (p.Val50Met)	KCNQ3 (V50M)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2971612	NM_004519.4(KCNQ3):c.2525C>T (p.Thr842Met)	KCNQ3 (T722M +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2971333	NM_004519.4(KCNQ3):c.1215C>G (p.Val405=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2968927	NM_004519.4(KCNQ3):c.1045-9del	KCNQ3	Deletion (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2966202	NM_004519.4(KCNQ3):c.313C>T (p.Arg105Trp)	KCNQ3 (R105W)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2961454	NM_004519.4(KCNQ3):c.598A>G (p.Met200Val)	KCNQ3 (M80V +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2961207	NM_004519.4(KCNQ3):c.1665C>A (p.Leu555=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2957427	NM_004519.4(KCNQ3):c.2608A>C (p.Lys870Gln)	KCNQ3 (K750Q +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2954642	NM_004519.4(KCNQ3):c.1811A>G (p.Tyr604Cys)	KCNQ3 (Y484C +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2920520	NM_004519.4(KCNQ3):c.2055C>T (p.Cys685=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2920422	NM_004519.4(KCNQ3):c.2348C>T (p.Thr783Met)	KCNQ3 (T783M +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2919505	NM_004519.4(KCNQ3):c.2465G>T (p.Gly822Val)	KCNQ3 (G822V +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2918380	NM_004519.4(KCNQ3):c.558C>T (p.Gly186=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2916148	NM_004519.4(KCNQ3):c.2368C>G (p.Leu790Val)	KCNQ3 (L790V +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2913947	NM_004519.4(KCNQ3):c.1984G>A (p.Gly662Ser)	KCNQ3 (G542S +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2911864	NM_004519.4(KCNQ3):c.2589A>T (p.Ser863=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2911080	NM_004519.4(KCNQ3):c.2314G>T (p.Asp772Tyr)	KCNQ3 (D772Y +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2908617	NM_004519.4(KCNQ3):c.477+18G>A	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2908594	NM_004519.4(KCNQ3):c.2471C>T (p.Ser824Leu)	KCNQ3 (S704L +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2905651	NM_004519.4(KCNQ3):c.478-12T>C	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2904578	NM_004519.4(KCNQ3):c.1522A>G (p.Ile508Val)	KCNQ3 (I388V +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2902209	NM_004519.4(KCNQ3):c.204G>A (p.Leu68=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2901410	NM_004519.4(KCNQ3):c.414T>C (p.Ile138=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2899962	NM_004519.4(KCNQ3):c.604+19C>T	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2899365	NM_004519.4(KCNQ3):c.605-16C>T	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2897963	NM_004519.4(KCNQ3):c.296G>T (p.Arg99Ile)	KCNQ3 (R99I)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2887474	NM_004519.4(KCNQ3):c.744G>A (p.Lys248=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2887471	NM_004519.4(KCNQ3):c.316C>T (p.Arg106Cys)	KCNQ3 (R106C)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2881854	NM_004519.4(KCNQ3):c.355C>T (p.Arg119Trp)	KCNQ3 (R119W)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2881687	NM_004519.4(KCNQ3):c.1800-18G>A	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2872377	NM_004519.4(KCNQ3):c.1568+18C>A	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2870384	NM_004519.4(KCNQ3):c.121C>G (p.Arg41Gly)	KCNQ3 (R41G)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2870241	NM_004519.4(KCNQ3):c.715C>T (p.Arg239Trp)	KCNQ3 (R119W +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2863046	NM_004519.4(KCNQ3):c.1700+16C>T	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures	GLikely benign
Select item 2861064	NM_004519.4(KCNQ3):c.2065G>A (p.Glu689Lys)	KCNQ3 (E569K +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2856836	NM_004519.4(KCNQ3):c.1581C>T (p.Phe527=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2855566	NM_004519.4(KCNQ3):c.799A>C (p.Ile267Leu)	KCNQ3 (I147L +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2855428	NM_004519.4(KCNQ3):c.601T>C (p.Leu201=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2854916	NM_004519.4(KCNQ3):c.767C>T (p.Ala256Val)	KCNQ3 (A136V +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2852199	NM_004519.4(KCNQ3):c.109G>A (p.Gly37Ser)	KCNQ3 (G37S)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2850302	NM_004519.4(KCNQ3):c.2586T>C (p.Asp862=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures	GLikely benign
Select item 2843981	NM_004519.4(KCNQ3):c.2443G>A (p.Asp815Asn)	KCNQ3 (D815N +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2842212	NM_004519.4(KCNQ3):c.1262+1G>T	KCNQ3	Single nucleotide variant (splice donor variant)	Benign neonatal seizures	GLikely pathogenic
Select item 2835083	NM_004519.4(KCNQ3):c.2323T>A (p.Ser775Thr)	KCNQ3 (S775T +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2831532	NM_004519.4(KCNQ3):c.64G>A (p.Gly22Ser)	KCNQ3 (G22S)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2829895	NM_004519.4(KCNQ3):c.1981A>G (p.Lys661Glu)	KCNQ3 (K541E +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2828255	NM_004519.4(KCNQ3):c.971C>T (p.Pro324Leu)	KCNQ3 (P324L +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2827715	NM_004519.4(KCNQ3):c.44G>A (p.Gly15Asp)	KCNQ3 (G15D)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2827470	NM_004519.4(KCNQ3):c.211G>A (p.Gly71Ser)	KCNQ3 (G71S)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2824152	NM_004519.4(KCNQ3):c.815T>C (p.Leu272Pro)	KCNQ3 (L152P +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2823735	NM_004519.4(KCNQ3):c.91G>C (p.Gly31Arg)	KCNQ3 (G31R)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance

<< First< Prev

Page of 14