"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694421	NM_144687.4(NLRP12):c.3159A>G (p.Thr1053=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 329999	NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val)	NLRP12 (A1050V +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694420	NM_144687.4(NLRP12):c.3095T>C (p.Leu1032Pro)	NLRP12 (L1032P +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694419	NM_144687.4(NLRP12):c.3092T>A (p.Val1031Asp)	NLRP12 (V1031D +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 330000	NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)	NLRP12 (R1030G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 330001	NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)	NLRP12 (R1016* +2 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1636919	NM_144687.4(NLRP12):c.3042T>C (p.Gly1014=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1694418	NM_144687.4(NLRP12):c.3025G>T (p.Ala1009Ser)	NLRP12 (A1009S +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 330002	NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=)	NLRP12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 536948	NM_144687.4(NLRP12):c.3004G>A (p.Asp1002Asn)	NLRP12 (D1002N +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 652847	NM_144687.4(NLRP12):c.2981T>C (p.Leu994Pro)	NLRP12 (L995P +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1056209	NM_144687.4(NLRP12):c.2966A>C (p.Asn989Thr)	NLRP12 (N932T +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 330005	NM_144687.4(NLRP12):c.2927+4_2927+5dup	NLRP12	Duplication (intron variant)	Familial cold autoinflammatory syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1376777	NM_144687.4(NLRP12):c.2905G>C (p.Ala969Pro)	NLRP12 (A969P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 1694416	NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys)	NLRP12 (E963K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 659495	NM_144687.4(NLRP12):c.2854G>A (p.Asp952Asn)	NLRP12 (D952N +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 599430	NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp)	NLRP12 (R944W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 97891	NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)	NLRP12	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 97890	NM_144687.4(NLRP12):c.2784C>T (p.Ala928=)	NLRP12	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 2 +2 more	GBenign
Select item 1694415	NM_144687.4(NLRP12):c.2766C>T (p.Ile922=)	NLRP12	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1401846	NM_144687.4(NLRP12):c.2757-1G>T	NLRP12	Single nucleotide variant (intron variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 330010	NM_144687.4(NLRP12):c.2755C>T (p.Arg919Trp)	NLRP12 (R919W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 330011	NM_144687.4(NLRP12):c.2754G>C (p.Leu918=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +2 more	GBenign/Likely benign
Select item 765222	NM_144687.4(NLRP12):c.2736G>A (p.Thr912=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 97889	NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu)	NLRP12 (V901L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 719118	NM_144687.4(NLRP12):c.2622C>T (p.Asp874=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 808637	NM_144687.4(NLRP12):c.2599C>T (p.Arg867Cys)	NLRP12 (R867C +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +3 more	GUncertain significance
Select item 330015	NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser)	NLRP12 (T861S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 330016	NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln)	NLRP12 (R859Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 330017	NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)	NLRP12 (R859W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 656852	NM_144687.4(NLRP12):c.2572C>A (p.Leu858Ile)	NLRP12 (L858I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 330018	NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu)	NLRP12 (D834E +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694413	NM_144687.4(NLRP12):c.2487G>C (p.Leu829=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694412	NM_144687.4(NLRP12):c.2470G>A (p.Gly824Ser)	NLRP12 (G824S +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 262530	NM_144687.4(NLRP12):c.2469C>A (p.Leu823=)	NLRP12	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1694411	NM_144687.4(NLRP12):c.2464G>A (p.Val822Met)	NLRP12 (V822M +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694410	NM_144687.4(NLRP12):c.2450A>T (p.Gln817Leu)	NLRP12 (Q817L +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 658122	NM_144687.4(NLRP12):c.2440G>A (p.Gly814Arg)	NLRP12 (G815R +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694409	NM_144687.4(NLRP12):c.2414+5G>A	NLRP12	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694408	NM_144687.4(NLRP12):c.2386C>T (p.His796Tyr)	NLRP12 (H796Y +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1123571	NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln)	NLRP12 (R795Q +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 964977	NM_144687.4(NLRP12):c.2383C>T (p.Arg795Trp)	NLRP12 (R795W +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 1364638	NM_144687.4(NLRP12):c.2337C>T (p.Gly779=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694407	NM_144687.4(NLRP12):c.2258G>T (p.Arg753Leu)	NLRP12 (R753L +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 719727	NM_144687.4(NLRP12):c.2258G>A (p.Arg753His)	NLRP12 (R754H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1149572	NM_144687.4(NLRP12):c.2253G>A (p.Arg751=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1694406	NM_144687.4(NLRP12):c.2244-10del	NLRP12	Deletion (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 536939	NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln)	NLRP12 (K743Q +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GBenign/Likely benign
Select item 754755	NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser)	NLRP12 (N742S +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 330024	NM_144687.4(NLRP12):c.2212A>C (p.Arg738=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 536936	NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg)	NLRP12 (G737R +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1413845	NM_144687.4(NLRP12):c.2188dup (p.Val730fs)	NLRP12 (V730fs +1 more)	Duplication (frameshift variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 808638	NM_144687.4(NLRP12):c.2186_2187insTT (p.Val730fs)	NLRP12 (V730fs +1 more)	Insertion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 330025	NM_144687.4(NLRP12):c.2165G>A (p.Arg722Gln)	NLRP12 (R722Q +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 574885	NM_144687.4(NLRP12):c.2147T>C (p.Ile716Thr)	NLRP12 (I716T +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 330026	NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser)	NLRP12 (N715S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1694405	NM_144687.4(NLRP12):c.2104A>G (p.Ser702Gly)	NLRP12 (S702G +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694404	NM_144687.4(NLRP12):c.2072+5G>T	NLRP12	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 811868	NM_144687.4(NLRP12):c.2072+2_2072+3insTT	NLRP12	Insertion (splice donor variant)	not specified +2 more	GUncertain significance
Select item 1597	NM_144687.4(NLRP12):c.2072+2dup	NLRP12	Duplication (splice donor variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 623962	NM_144687.4(NLRP12):c.2052G>A (p.Ala684=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694403	NM_144687.4(NLRP12):c.2032G>T (p.Ala678Ser)	NLRP12 (A678S)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694402	NM_144687.4(NLRP12):c.2015C>T (p.Ala672Val)	NLRP12 (A672V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 330029	NM_144687.4(NLRP12):c.1996T>C (p.Tyr666His)	NLRP12 (Y666H)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694401	NM_144687.4(NLRP12):c.1948T>C (p.Ser650Pro)	NLRP12 (S650P)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1556303	NM_144687.4(NLRP12):c.1908C>A (p.Ile636=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 744608	NM_144687.4(NLRP12):c.1854C>T (p.Tyr618=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GLikely benign
Select item 503632	NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter)	NLRP12 (Y618*)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 2 +3 more	GUncertain significance
Select item 1694400	NM_144687.4(NLRP12):c.1820A>G (p.Gln607Arg)	NLRP12 (Q607R)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 730321	NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro)	NLRP12 (Q607P)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 950998	NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn)	NLRP12 (S597N)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694398	NM_144687.4(NLRP12):c.1756C>A (p.His586Asn)	NLRP12 (H586N)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694397	NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu)	NLRP12 (P585L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 536946	NM_144687.4(NLRP12):c.1731G>A (p.Lys577=)	NLRP12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1694396	NM_144687.4(NLRP12):c.1685T>G (p.Phe562Cys)	NLRP12 (F562C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 536941	NM_144687.4(NLRP12):c.1599C>T (p.Gly533=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GBenign/Likely benign
Select item 578713	NM_144687.4(NLRP12):c.1587C>G (p.Asp529Glu)	NLRP12 (D529E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 640521	NM_144687.4(NLRP12):c.1568C>G (p.Ala523Gly)	NLRP12 (A523G)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +2 more	GUncertain significance
Select item 1694394	NM_144687.4(NLRP12):c.1538T>C (p.Ile513Thr)	NLRP12 (I513T)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 536947	NM_144687.4(NLRP12):c.1437G>A (p.Gln479=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 1694393	NM_144687.4(NLRP12):c.1391_1408del (p.Leu464_Leu469del)	NLRP12	Deletion (inframe_deletion)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 536945	NM_144687.4(NLRP12):c.1352G>A (p.Arg451His)	NLRP12 (R451H)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 330032	NM_144687.4(NLRP12):c.1347C>G (p.Ala449=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GBenign
Select item 1694392	NM_144687.4(NLRP12):c.1340C>T (p.Pro447Leu)	NLRP12 (P447L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 893137	NM_144687.4(NLRP12):c.1316T>A (p.Leu439Gln)	NLRP12 (L439Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GBenign
Select item 1694391	NM_144687.4(NLRP12):c.1302G>A (p.Val434=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 536938	NM_144687.4(NLRP12):c.1299A>G (p.Ala433=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 754716	NM_144687.4(NLRP12):c.1281G>A (p.Thr427=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 262529	NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu)	NLRP12 (F402L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +4 more	GBenign
Select item 716688	NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys)	NLRP12 (N394K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1000030	NM_144687.4(NLRP12):c.1151C>T (p.Ala384Val)	NLRP12 (A384V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 1694389	NM_144687.4(NLRP12):c.1075C>T (p.His359Tyr)	NLRP12 (H359Y)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694388	NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val)	NLRP12 (L354V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 523654	NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)	NLRP12 (R352C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1429985	NM_144687.4(NLRP12):c.1051C>T (p.His351Tyr)	NLRP12 (H351Y)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 330033	NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln)	NLRP12 (R329Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 262533	NM_144687.4(NLRP12):c.969T>G (p.Leu323=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 1694427	NM_144687.4(NLRP12):c.962A>C (p.Glu321Ala)	NLRP12 (E321A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 330034	NM_144687.4(NLRP12):c.960G>A (p.Thr320=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +2 more	GBenign
Select item 330035	NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg)	NLRP12 (P319R)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign

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