ClinVar for Gene (Select 22861) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1131

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3879882	NM_033004.4(NLRP1):c.1132G>T (p.Val378Leu)	NLRP1 (V378L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3879881	NM_033004.4(NLRP1):c.238A>G (p.Arg80Gly)	NLRP1 (R80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3879880	NM_033004.4(NLRP1):c.1101C>G (p.Phe367Leu)	NLRP1 (F367L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3879879	NM_033004.4(NLRP1):c.4352C>A (p.Thr1451Asn)	NLRP1 (T1377N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3879878	NM_033004.4(NLRP1):c.193C>T (p.Arg65Trp)	NLRP1 (R65W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3776173	NM_033004.4(NLRP1):c.2167T>C (p.Tyr723His)	NLRP1 (Y723H)	Single nucleotide variant (missense variant)	Autoinflammation with arthritis and dyskeratosis	GUncertain significance
Select item 3769291	NM_033004.4(NLRP1):c.4328G>A (p.Gly1443Glu)	NLRP1 (G1369E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3768873	NM_033004.4(NLRP1):c.3627C>T (p.Asn1209=)	NLRP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3768633	NM_033004.4(NLRP1):c.1304C>T (p.Pro435Leu)	NLRP1 (P435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3767959	NM_033004.4(NLRP1):c.2771T>C (p.Leu924Pro)	NLRP1 (L924P)	Single nucleotide variant (missense variant)	Autoinflammation with arthritis and dyskeratosis	GUncertain significance
Select item 3729922	NM_033004.4(NLRP1):c.2173A>T (p.Thr725Ser)	NLRP1 (T725S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3729874	NM_033004.4(NLRP1):c.3909C>T (p.Leu1303=)	NLRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3729556	NM_033004.4(NLRP1):c.2833G>T (p.Gly945Trp)	NLRP1 (G945W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3728585	NM_033004.4(NLRP1):c.2553T>C (p.Ala851=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3728171	NM_033004.4(NLRP1):c.2870+6G>A	NLRP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3727207	NM_033004.4(NLRP1):c.3094C>G (p.Leu1032Val)	NLRP1 (L1032V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3726692	NM_033004.4(NLRP1):c.590G>C (p.Arg197Thr)	NLRP1 (R197T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3726631	NM_033004.4(NLRP1):c.2358-11C>T	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3726499	NM_033004.4(NLRP1):c.2890A>C (p.Ser964Arg)	NLRP1 (S964R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3725132	NM_033004.4(NLRP1):c.2700-3C>A	NLRP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3722814	NM_033004.4(NLRP1):c.1404T>G (p.Pro468=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3722535	NM_033004.4(NLRP1):c.786C>A (p.Ser262Arg)	NLRP1 (S262R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3722447	NM_033004.4(NLRP1):c.652+6A>T	NLRP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3721324	NM_033004.4(NLRP1):c.1890T>C (p.Phe630=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3719238	NM_033004.4(NLRP1):c.3340G>T (p.Gly1114Cys)	NLRP1 (G1114C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3717476	NM_033004.4(NLRP1):c.615A>G (p.Gln205=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3716841	NM_033004.4(NLRP1):c.3626_3627delinsTT (p.Asn1209Ile)	NLRP1 (N1213I +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3716063	NM_033004.4(NLRP1):c.3174C>T (p.Cys1058=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3714117	NM_033004.4(NLRP1):c.745C>T (p.Gln249Ter)	NLRP1 (Q249*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3713577	NM_033004.4(NLRP1):c.3531G>A (p.Val1177=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3713038	NM_033004.4(NLRP1):c.262G>A (p.Glu88Lys)	NLRP1 (E88K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3710825	NM_033004.4(NLRP1):c.538A>G (p.Thr180Ala)	NLRP1 (T180A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3709697	NM_033004.4(NLRP1):c.378G>A (p.Ala126=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3708008	NM_033004.4(NLRP1):c.135A>G (p.Pro45=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3700956	NM_033004.4(NLRP1):c.1740G>C (p.Trp580Cys)	NLRP1 (W580C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3700751	NM_033004.4(NLRP1):c.1545C>T (p.Ala515=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3699940	NM_033004.4(NLRP1):c.2408T>C (p.Val803Ala)	NLRP1 (V803A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3698556	NM_033004.4(NLRP1):c.117T>G (p.Gly39=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3698034	NM_033004.4(NLRP1):c.107G>C (p.Ser36Thr)	LOC126862475, NLRP1 (S36T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3697822	NM_033004.4(NLRP1):c.1174C>A (p.Pro392Thr)	NLRP1 (P392T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3697769	NM_033004.4(NLRP1):c.720G>A (p.Thr240=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3697714	NM_033004.4(NLRP1):c.2723C>G (p.Ser908Cys)	NLRP1 (S908C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3697299	NM_033004.4(NLRP1):c.1812C>A (p.Phe604Leu)	NLRP1 (F604L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3696640	NM_033004.4(NLRP1):c.2534C>T (p.Ala845Val)	NLRP1 (A845V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3696502	NM_033004.4(NLRP1):c.4104C>T (p.Ala1368=)	NLRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3696448	NM_033004.4(NLRP1):c.1375C>T (p.Arg459Trp)	NLRP1 (R459W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3696353	NM_033004.4(NLRP1):c.650C>T (p.Thr217Ile)	NLRP1 (T217I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3696152	NM_033004.4(NLRP1):c.3466G>C (p.Ala1156Pro)	NLRP1 (A1156P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3695960	NM_033004.4(NLRP1):c.2699+20A>C	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3691523	NM_033004.4(NLRP1):c.3127A>G (p.Ile1043Val)	NLRP1 (I1013V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3690702	NM_033004.4(NLRP1):c.3879T>C (p.Ser1293=)	NLRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3689774	NM_033004.4(NLRP1):c.867C>G (p.Pro289=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3689180	NM_033004.4(NLRP1):c.2358-7C>T	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3689174	NM_033004.4(NLRP1):c.3783+13G>A	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3688291	NM_033004.4(NLRP1):c.603T>C (p.Ala201=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3686304	NM_033004.4(NLRP1):c.358T>C (p.Trp120Arg)	NLRP1 (W120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3685269	NM_033004.4(NLRP1):c.1092C>T (p.Val364=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3684539	NM_033004.4(NLRP1):c.212T>A (p.Leu71His)	NLRP1 (L71H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3683602	NM_033004.4(NLRP1):c.328C>T (p.Gln110Ter)	NLRP1 (Q110*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3682771	NM_033004.4(NLRP1):c.3231T>C (p.Asp1077=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3681642	NM_033004.4(NLRP1):c.763T>C (p.Trp255Arg)	NLRP1 (W255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3681189	NM_033004.4(NLRP1):c.1062C>G (p.Gly354=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3678589	NM_033004.4(NLRP1):c.566C>T (p.Pro189Leu)	NLRP1 (P189L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3677463	NM_033004.4(NLRP1):c.3363A>C (p.Glu1121Asp)	NLRP1 (E1121D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3677383	NM_033004.4(NLRP1):c.2676G>A (p.Pro892=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3674751	NM_033004.4(NLRP1):c.3345C>G (p.Leu1115=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3673361	NM_033004.4(NLRP1):c.3492G>A (p.Val1164=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3672990	NM_033004.4(NLRP1):c.2582del (p.Leu861fs)	NLRP1 (L861fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3672168	NM_033004.4(NLRP1):c.3041G>T (p.Arg1014Ile)	NLRP1 (R984I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3670316	NM_033004.4(NLRP1):c.645C>T (p.Tyr215=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3669541	NM_033004.4(NLRP1):c.272-17T>C	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3668840	NM_033004.4(NLRP1):c.3285G>T (p.Lys1095Asn)	NLRP1 (K1065N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3663972	NM_033004.4(NLRP1):c.4069C>G (p.Pro1357Ala)	NLRP1 (P1283A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3662594	NM_033004.4(NLRP1):c.4057+18C>T	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3661907	NM_033004.4(NLRP1):c.3433T>C (p.Trp1145Arg)	NLRP1 (W1145R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3661891	NM_033004.4(NLRP1):c.1147C>T (p.Leu383Phe)	NLRP1 (L383F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3660223	NM_033004.4(NLRP1):c.3716A>G (p.His1239Arg)	NLRP1 (H1209R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3660099	NM_033004.4(NLRP1):c.3589C>G (p.Pro1197Ala)	NLRP1 (P1167A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3658480	NM_033004.4(NLRP1):c.3296+12G>T	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3652950	NM_033004.4(NLRP1):c.582A>G (p.Leu194=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3649816	NM_033004.4(NLRP1):c.2960G>C (p.Arg987Pro)	NLRP1 (R987P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3648922	NM_033004.4(NLRP1):c.650C>A (p.Thr217Lys)	NLRP1 (T217K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3647017	NM_033004.4(NLRP1):c.4057+15A>G	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3646806	NM_033004.4(NLRP1):c.758A>G (p.His253Arg)	NLRP1 (H253R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3644617	NM_033004.4(NLRP1):c.706G>T (p.Ala236Ser)	NLRP1 (A236S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3643819	NM_033004.4(NLRP1):c.3773C>T (p.Ser1258Phe)	NLRP1 (S1262F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3643292	NM_033004.4(NLRP1):c.3427C>T (p.His1143Tyr)	NLRP1 (H1113Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3643023	NM_033004.4(NLRP1):c.4324G>T (p.Asp1442Tyr)	NLRP1 (D1398Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3641611	NM_033004.4(NLRP1):c.271+20C>A	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3641588	NM_033004.4(NLRP1):c.4356T>C (p.His1452=)	NLRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3640396	NM_033004.4(NLRP1):c.2647A>G (p.Lys883Glu)	NLRP1 (K883E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3637904	NM_033004.4(NLRP1):c.1477T>C (p.Tyr493His)	NLRP1 (Y493H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3632995	NM_033004.4(NLRP1):c.3604C>T (p.Leu1202=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3630557	NM_033004.4(NLRP1):c.1463A>G (p.Glu488Gly)	NLRP1 (E488G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3623777	NM_033004.4(NLRP1):c.3004G>T (p.Glu1002Ter)	NLRP1 (E1002* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3623476	NM_033004.4(NLRP1):c.1173T>G (p.Thr391=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3622229	NM_033004.4(NLRP1):c.3296+3G>T	NLRP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3622011	NM_033004.4(NLRP1):c.949T>C (p.Leu317=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3621354	NM_033004.4(NLRP1):c.739A>G (p.Ser247Gly)	NLRP1 (S247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3621322	NM_033004.4(NLRP1):c.2130G>A (p.Leu710=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 12