4-Chloropyridine-2-sulfonyl chloride - ClinVar - NCBI

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The following terms were not found in ClinVar: Chloropyridine, sulfonyl.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1408731	NM_001286.5(CLCN6):c.233C>T (p.Ala78Val)	CLCN6 (A56V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1983842	NM_001286.5(CLCN6):c.260T>C (p.Ile87Thr)	CLCN6 (I65T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2358981	NM_004070.4(CLCNKA):c.8A>C (p.Glu3Ala)	CLCNKA (E3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 638437	NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu)	CLCNKA (G6E)	Single nucleotide variant (missense variant)	Bartter disease type 4B	GUncertain significance
Select item 2325206	NM_004070.4(CLCNKA):c.28G>T (p.Gly10Cys)	CLCNKA (G10C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587598	NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)	CLCNKA (Q19*)	Single nucleotide variant (nonsense)	Bartter disease type 4B +2 more	GConflicting classifications of pathogenicity
Select item 2514894	NM_004070.4(CLCNKA):c.86G>A (p.Arg29His)	CLCNKA (R29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248998	NM_004070.4(CLCNKA):c.140G>T (p.Gly47Val)	CLCNKA (G47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145435	NM_004070.4(CLCNKA):c.211A>G (p.Ile71Val)	CLCNKA (I71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145436	NM_004070.4(CLCNKA):c.221T>A (p.Val74Glu)	CLCNKA (V74E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638352	NM_004070.4(CLCNKA):c.223G>T (p.Val75Phe)	CLCNKA (V75F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2290220	NM_004070.4(CLCNKA):c.233A>C (p.His78Pro)	CLCNKA, LOC106501712 (H78P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592918	NM_004070.4(CLCNKA):c.326G>A (p.Gly109Asp)	CLCNKA, LOC106501712 (G109D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267573	NM_004070.4(CLCNKA):c.371C>T (p.Pro124Leu)	CLCNKA, LOC106501712 (P81L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267574	NM_004070.4(CLCNKA):c.446T>A (p.Val149Glu)	CLCNKA, LOC106501712 (V106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267571	NM_004070.4(CLCNKA):c.502C>T (p.Pro168Ser)	CLCNKA, LOC106501712 (P125S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235660	NM_004070.4(CLCNKA):c.550C>T (p.Arg184Cys)	CLCNKA, LOC106501712 (R141C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252678	NM_004070.4(CLCNKA):c.551G>T (p.Arg184Leu)	CLCNKA, LOC106501712 (R141L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145437	NM_004070.4(CLCNKA):c.575A>G (p.Glu192Gly)	CLCNKA, LOC106501712 (E149G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603067	NM_004070.4(CLCNKA):c.584G>C (p.Ser195Thr)	CLCNKA, LOC106501712 (S152T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285925	NM_004070.4(CLCNKA):c.700C>T (p.Arg234Trp)	CLCNKA, LOC106501712 (R191W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145438	NM_004070.4(CLCNKA):c.747A>G (p.Ile249Met)	CLCNKA, LOC106501712 (I206M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2392935	NM_004070.4(CLCNKA):c.769A>G (p.Asn257Asp)	CLCNKA, LOC106501712 (N214D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7590	NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter)	CLCNKA, LOC106501712 (Q260* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 4B	GPathogenic
Select item 3267575	NM_004070.4(CLCNKA):c.823G>A (p.Val275Ile)	CLCNKA, LOC106501712 (V232I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377492	NM_004070.4(CLCNKA):c.859G>A (p.Ala287Thr)	CLCNKA, LOC106501712 (A244T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615556	NM_004070.4(CLCNKA):c.880G>A (p.Val294Ile)	CLCNKA, LOC106501712 (V251I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145440	NM_004070.4(CLCNKA):c.940C>T (p.Arg314Trp)	CLCNKA, LOC106501712 (R314W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334880	NM_004070.4(CLCNKA):c.950C>A (p.Ser317Tyr)	CLCNKA, LOC106501712 (S274Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785787	NM_004070.4(CLCNKA):c.969-7C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2638353	NM_004070.4(CLCNKA):c.969-5C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2461928	NM_004070.4(CLCNKA):c.1037A>G (p.His346Arg)	CLCNKA, LOC106501712 (H346R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2466121	NM_004070.4(CLCNKA):c.1051C>T (p.Arg351Trp)	CLCNKA, LOC106501712 (R308W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407802	NM_004070.4(CLCNKA):c.1077C>A (p.Asp359Glu)	CLCNKA, LOC106501712 (D359E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267577	NM_004070.4(CLCNKA):c.1079C>T (p.Ser360Leu)	CLCNKA, LOC106501712 (S360L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267572	NM_004070.4(CLCNKA):c.1093C>T (p.His365Tyr)	CLCNKA, LOC106501712 (H322Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296750	NM_004070.4(CLCNKA):c.1103C>T (p.Ala368Val)	CLCNKA, LOC106501712 (A368V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145432	NM_004070.4(CLCNKA):c.1183C>T (p.Arg395Trp)	CLCNKA, LOC106501712 (R395W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300502	NM_004070.4(CLCNKA):c.1253C>G (p.Thr418Ser)	CLCNKA, LOC106501712 (T375S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405459	NM_004070.4(CLCNKA):c.1255A>G (p.Ile419Val)	CLCNKA, LOC106501712 (I376V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638354	NM_004070.4(CLCNKA):c.1305C>T (p.Ala435=)	LOC106501712, CLCNKA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229285	NM_004070.4(CLCNKA):c.1336G>A (p.Val446Ile)	CLCNKA, LOC106501712 (V446I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267580	NM_004070.4(CLCNKA):c.1384A>G (p.Met462Val)	CLCNKA, LOC106501712 (M419V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638355	NM_004070.4(CLCNKA):c.1389C>A (p.Pro463=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267579	NM_004070.4(CLCNKA):c.1394G>T (p.Gly465Val)	CLCNKA, LOC106501712 (G422V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537434	NM_004070.4(CLCNKA):c.1418C>A (p.Ala473Asp)	CLCNKA, LOC106501712 (A430D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259386	NM_004070.4(CLCNKA):c.1427G>T (p.Gly476Val)	CLCNKA, LOC106501712 (G433V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479294	NM_004070.4(CLCNKA):c.1435A>T (p.Thr479Ser)	CLCNKA, LOC106501712 (T436S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214428	NM_004070.4(CLCNKA):c.1451C>T (p.Thr484Met)	CLCNKA, LOC106501712 (T441M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378261	NM_004070.4(CLCNKA):c.1454C>T (p.Ala485Val)	CLCNKA, LOC106501712 (A442V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484926	NM_004070.4(CLCNKA):c.1505T>C (p.Leu502Pro)	CLCNKA, LOC106501712 (L459P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488505	NM_004070.4(CLCNKA):c.1528G>A (p.Ala510Thr)	CLCNKA, LOC106501712 (A510T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294109	NM_004070.4(CLCNKA):c.1589C>T (p.Pro530Leu)	CLCNKA, LOC106501712 (P487L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717469	NM_004070.4(CLCNKA):c.1612C>T (p.Arg538Cys)	CLCNKA, LOC106501712 (R495C +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GConflicting classifications of pathogenicity
Select item 2590923	NM_004070.4(CLCNKA):c.1685C>T (p.Thr562Met)	CLCNKA, LOC106501712 (T519M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2471415	NM_004070.4(CLCNKA):c.1715C>A (p.Thr572Asn)	CLCNKA, LOC106501712 (T529N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145434	NM_004070.4(CLCNKA):c.1726G>A (p.Val576Met)	CLCNKA, LOC106501712 (V533M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620998	NM_004070.4(CLCNKA):c.1787G>T (p.Arg596Met)	CLCNKA, LOC106501712 (R553M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219839	NM_004070.4(CLCNKA):c.1798G>T (p.Val600Leu)	CLCNKA, LOC106501712 (V600L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267576	NM_004070.4(CLCNKA):c.1831G>A (p.Ala611Thr)	CLCNKA, LOC106501712 (A611T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507816	NM_004070.4(CLCNKA):c.1834C>G (p.Pro612Ala)	CLCNKA, LOC106501712 (P612A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268403	NM_004070.4(CLCNKA):c.1906T>G (p.Phe636Val)	CLCNKA, LOC106501712 (F593V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355198	NM_004070.4(CLCNKA):c.1943T>C (p.Phe648Ser)	CLCNKA, LOC106501712 (F605S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473429	NM_004070.4(CLCNKA):c.1972G>A (p.Val658Met)	CLCNKA, LOC106501712 (V657M +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GUncertain significance
Select item 2541239	NM_004070.4(CLCNKA):c.1981C>T (p.Arg661Trp)	CLCNKA, LOC106501712 (R618W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362564	NM_004070.4(CLCNKA):c.2002G>A (p.Val668Met)	CLCNKA, LOC106501712 (V625M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447087	NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1251836	NM_004070.4(CLCNKA):c.*37A>C	CLCNKA, LOC106501712	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1183003	NM_004070.4(CLCNKA):c.*126A>G	CLCNKA, LOC106501712	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 447107	NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu)	CLCNKB (R27L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 975076	NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)	CLCNKB, LOC106501713 (R76*)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 1 +3 more	GPathogenic
Select item 1920297	NM_000085.5(CLCNKB):c.338G>C (p.Ser113Thr)	CLCNKB, LOC106501713 (S113T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1430546	NM_000085.5(CLCNKB):c.385A>G (p.Met129Val)	CLCNKB, LOC106501713 (M129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3145448	NM_000085.5(CLCNKB):c.429C>G (p.Asn143Lys)	CLCNKB, LOC106501713 (N143K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7601	NM_000085.5(CLCNKB):c.1929+1G>A	CLCNKB, LOC106501713	Single nucleotide variant (splice donor variant)	BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS	GPathogenic
Select item 1209828	NM_000085.5(CLCNKB):c.*37A>C	CLCNKB, LOC106501713	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 3 +2 more	GBenign
Select item 402540	NM_000085.5(CLCNKB):c.*271G>C	CLCNKB, LOC106501713	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 2254244	NM_013943.3(CLIC4):c.344A>C (p.Asn115Thr)	CLIC4 (N115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350475	NM_006536.7(CLCA2):c.479G>A (p.Arg160Gln)	CLCA2 (R160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313384	NM_006536.7(CLCA2):c.497G>C (p.Trp166Ser)	CLCA2 (W166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258993	NM_006536.7(CLCA2):c.505C>T (p.Leu169Phe)	CLCA2 (L169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330337	NM_006536.7(CLCA2):c.536A>G (p.Asn179Ser)	CLCA2 (N179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145338	NM_001285.4(CLCA1):c.15G>C (p.Lys5Asn)	CLCA1 (K5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214374	NM_001285.4(CLCA1):c.15G>T (p.Lys5Asn)	CLCA1 (K5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556231	NM_001285.4(CLCA1):c.85A>C (p.Asn29His)	CLCA1 (N29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404660	NM_001285.4(CLCA1):c.109G>A (p.Val37Ile)	CLCA1 (V37I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623909	NM_001285.4(CLCA1):c.335C>T (p.Pro112Leu)	CLCA1 (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616663	NM_001285.4(CLCA1):c.349C>T (p.Pro117Ser)	CLCA1 (P117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334685	NM_001285.4(CLCA1):c.388G>A (p.Glu130Lys)	CLCA1 (E130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367232	NM_001285.4(CLCA1):c.432A>T (p.Leu144Phe)	CLCA1 (L144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145345	NM_001285.4(CLCA1):c.448C>A (p.Gln150Lys)	CLCA1 (Q150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606134	NM_001285.4(CLCA1):c.498T>A (p.Phe166Leu)	CLCA1 (F166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145346	NM_001285.4(CLCA1):c.620C>T (p.Thr207Ile)	CLCA1 (T207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521213	NM_001285.4(CLCA1):c.626G>T (p.Arg209Ile)	CLCA1 (R209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291325	NM_001285.4(CLCA1):c.726T>A (p.His242Gln)	CLCA1 (H242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145347	NM_001285.4(CLCA1):c.731A>G (p.Asp244Gly)	CLCA1 (D244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623191	NM_001285.4(CLCA1):c.968T>C (p.Leu323Pro)	CLCA1 (L323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276874	NM_001285.4(CLCA1):c.1043C>T (p.Thr348Ile)	CLCA1 (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145336	NM_001285.4(CLCA1):c.1172C>T (p.Ser391Leu)	CLCA1 (S391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267516	NM_001285.4(CLCA1):c.1205C>A (p.Thr402Asn)	CLCA1 (T402N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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