ClinVar for Gene (Select 197358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200481	NM_178844.4(NLRC3):c.851C>T (p.Thr284Met)	NLRC3 (T284M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200480	NM_178844.4(NLRC3):c.769C>T (p.Leu257Phe)	NLRC3 (L257F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200478	NM_178844.4(NLRC3):c.710C>T (p.Thr237Met)	NLRC3 (T237M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200477	NM_178844.4(NLRC3):c.692C>T (p.Ser231Phe)	NLRC3 (S231F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200476	NM_178844.4(NLRC3):c.520G>A (p.Val174Met)	NLRC3 (V174M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200475	NM_178844.4(NLRC3):c.426C>G (p.Ile142Met)	NLRC3 (I142M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200474	NM_178844.4(NLRC3):c.389C>T (p.Pro130Leu)	NLRC3 (P130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200473	NM_178844.4(NLRC3):c.331G>A (p.Ala111Thr)	NLRC3 (A111T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200471	NM_178844.4(NLRC3):c.2164C>T (p.Arg722Cys)	NLRC3 (R722C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200468	NM_178844.4(NLRC3):c.2069T>C (p.Leu690Pro)	NLRC3 (L690P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200467	NM_178844.4(NLRC3):c.1823T>C (p.Leu608Pro)	NLRC3 (L608P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200466	NM_178844.4(NLRC3):c.1808C>T (p.Ala603Val)	NLRC3 (A603V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200465	NM_178844.4(NLRC3):c.1789G>A (p.Gly597Ser)	NLRC3 (G597S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200464	NM_178844.4(NLRC3):c.1738G>T (p.Ala580Ser)	NLRC3 (A580S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200463	NM_178844.4(NLRC3):c.1627C>T (p.Arg543Trp)	NLRC3 (R543W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200462	NM_178844.4(NLRC3):c.1577A>G (p.Asn526Ser)	NLRC3 (N526S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200461	NM_178844.4(NLRC3):c.1555G>A (p.Gly519Ser)	NLRC3 (G519S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200459	NM_178844.4(NLRC3):c.1550T>C (p.Leu517Pro)	NLRC3 (L517P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200458	NM_178844.4(NLRC3):c.1472T>C (p.Phe491Ser)	NLRC3 (F491S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200457	NM_178844.4(NLRC3):c.1268T>C (p.Phe423Ser)	NLRC3 (F423S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200456	NM_178844.4(NLRC3):c.1196C>T (p.Thr399Ile)	NLRC3 (T399I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063472	GRCh37/hg19 16p13.3(chr16:3598059-3677837)x1	NLRC3, SLX4	Copy number loss	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, CDIP1 +52 more	Copy number loss	not provided	GPathogenic
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2646112	NM_178844.4(NLRC3):c.37G>A (p.Gly13Ser)	NLRC3 (G13S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646111	NM_178844.4(NLRC3):c.199C>T (p.Arg67Cys)	NLRC3 (R67C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2646110	NM_178844.4(NLRC3):c.325G>C (p.Val109Leu)	NLRC3 (V109L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2646109	NM_178844.4(NLRC3):c.417G>A (p.Arg139=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646108	NM_178844.4(NLRC3):c.1341G>A (p.Ser447=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646107	NM_178844.4(NLRC3):c.1611C>T (p.Gly537=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646106	NM_178844.4(NLRC3):c.2716G>A (p.Ala906Thr)	NLRC3 (A906T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2624070	NM_178844.4(NLRC3):c.1408G>C (p.Ala470Pro)	NLRC3 (A470P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618015	NM_178844.4(NLRC3):c.1595C>T (p.Ser532Phe)	NLRC3 (S532F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615380	NM_178844.4(NLRC3):c.731C>G (p.Pro244Arg)	NLRC3 (P244R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610264	NM_178844.4(NLRC3):c.56G>T (p.Gly19Val)	NLRC3 (G19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595200	NM_178844.4(NLRC3):c.1004C>T (p.Thr335Met)	NLRC3 (T335M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2576365	NM_178844.4(NLRC3):c.1672G>A (p.Ala558Thr)	NLRC3 (A558T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555012	NM_178844.4(NLRC3):c.1580C>T (p.Ala527Val)	NLRC3 (A527V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552106	NM_178844.4(NLRC3):c.1340C>T (p.Ser447Leu)	NLRC3 (S447L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521461	NM_178844.4(NLRC3):c.409C>T (p.Pro137Ser)	NLRC3 (P137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518408	NM_178844.4(NLRC3):c.23C>T (p.Thr8Met)	NLRC3 (T8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509674	NM_178844.4(NLRC3):c.1837G>T (p.Ala613Ser)	NLRC3 (A613S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499642	GRCh38/hg38 16p13.3(chr16:3499966-3774794)	TRAP1, CLUAP1 +18 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2487206	NM_178844.4(NLRC3):c.700G>A (p.Val234Met)	NLRC3 (V234M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483994	NM_178844.4(NLRC3):c.614G>C (p.Ser205Thr)	NLRC3 (S205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483789	NM_178844.4(NLRC3):c.2422C>G (p.Leu808Val)	NLRC3 (L808V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483042	NM_178844.4(NLRC3):c.2191G>A (p.Gly731Ser)	NLRC3 (G731S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2475073	NM_178844.4(NLRC3):c.2138C>A (p.Ala713Glu)	NLRC3 (A713E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468092	NM_178844.4(NLRC3):c.721A>G (p.Lys241Glu)	NLRC3 (K241E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466483	NM_178844.4(NLRC3):c.539G>A (p.Arg180Gln)	NLRC3 (R180Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461817	NM_178844.4(NLRC3):c.337C>T (p.Arg113Cys)	NLRC3 (R113C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455935	NM_178844.4(NLRC3):c.1322G>A (p.Arg441Lys)	NLRC3 (R441K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426041	NC_000016.9:g.(?_3565488)_(3801827_?)dup	CLUAP1, CREBBP +4 more	Duplication	not provided	GUncertain significance
Select item 2426038	NC_000016.9:g.(?_3586102)_(3658965_?)del	CLUAP1, NLRC3 +1 more	Deletion	not provided	GUncertain significance
Select item 2426037	NC_000016.9:g.(?_3551068)_(3901030_?)del	CLUAP1, CREBBP +4 more	Deletion	not provided	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2412125	NM_178844.4(NLRC3):c.2173A>G (p.Thr725Ala)	NLRC3 (T725A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2395819	NM_178844.4(NLRC3):c.2230G>A (p.Glu744Lys)	NLRC3 (E744K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389027	NM_178844.4(NLRC3):c.980C>G (p.Thr327Ser)	NLRC3 (T327S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382458	NM_178844.4(NLRC3):c.346G>A (p.Gly116Arg)	NLRC3 (G116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381626	NM_178844.4(NLRC3):c.1112C>T (p.Ala371Val)	NLRC3 (A371V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379430	NM_178844.4(NLRC3):c.3137G>A (p.Gly1046Glu)	NLRC3 (G1046E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374452	NM_178844.4(NLRC3):c.242G>A (p.Gly81Asp)	NLRC3 (G81D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368160	NM_178844.4(NLRC3):c.1258A>G (p.Met420Val)	NLRC3 (M420V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363792	NM_178844.4(NLRC3):c.20G>T (p.Arg7Leu)	NLRC3 (R7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359812	NM_178844.4(NLRC3):c.397C>T (p.Arg133Trp)	NLRC3 (R133W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359242	NM_178844.4(NLRC3):c.1040C>T (p.Thr347Met)	NLRC3 (T347M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358303	NM_178844.4(NLRC3):c.2219G>C (p.Arg740Thr)	NLRC3 (R740T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350207	NM_178844.4(NLRC3):c.127C>A (p.Pro43Thr)	NLRC3 (P43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338659	NM_178844.4(NLRC3):c.917A>C (p.Gln306Pro)	NLRC3 (Q306P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326699	NM_178844.4(NLRC3):c.313G>A (p.Asp105Asn)	NLRC3 (D105N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311566	NM_178844.4(NLRC3):c.2164C>G (p.Arg722Gly)	NLRC3 (R722G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309556	NM_178844.4(NLRC3):c.20G>A (p.Arg7Gln)	NLRC3 (R7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307599	NM_178844.4(NLRC3):c.538C>T (p.Arg180Trp)	NLRC3 (R180W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302495	NM_178844.4(NLRC3):c.1732G>C (p.Glu578Gln)	NLRC3 (E578Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298346	NM_178844.4(NLRC3):c.2157G>T (p.Lys719Asn)	NLRC3 (K719N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283150	NM_178844.4(NLRC3):c.2287G>A (p.Gly763Arg)	NLRC3 (G763R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272065	NM_178844.4(NLRC3):c.1162C>G (p.Gln388Glu)	NLRC3 (Q388E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270526	NM_178844.4(NLRC3):c.1588G>A (p.Ala530Thr)	NLRC3 (A530T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267133	NM_178844.4(NLRC3):c.2812G>A (p.Val938Met)	NLRC3 (V938M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258843	NM_178844.4(NLRC3):c.805C>T (p.Pro269Ser)	NLRC3 (P269S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254605	NM_178844.4(NLRC3):c.1663C>T (p.Arg555Cys)	NLRC3 (R555C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254521	NM_178844.4(NLRC3):c.2165G>A (p.Arg722His)	NLRC3 (R722H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244344	NM_178844.4(NLRC3):c.1636G>A (p.Val546Met)	NLRC3 (V546M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241496	NM_178844.4(NLRC3):c.800C>T (p.Ser267Phe)	NLRC3 (S267F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235707	NM_178844.4(NLRC3):c.87G>C (p.Met29Ile)	NLRC3 (M29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234422	NM_178844.4(NLRC3):c.1325A>G (p.Glu442Gly)	NLRC3 (E442G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209225	NM_178844.4(NLRC3):c.776C>T (p.Pro259Leu)	NLRC3 (P259L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206276	NM_178844.4(NLRC3):c.1030C>T (p.Arg344Cys)	NLRC3 (R344C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1455963	NC_000016.9:g.(?_3293141)_(3929917_?)del	C16orf90, CLUAP1 +15 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980673	GRCh37/hg19 16p13.3(chr16:3598059-3738078)x1	DNASE1, NLRC3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 785520	NM_178844.4(NLRC3):c.1218T>C (p.His406=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768747	NM_178844.4(NLRC3):c.179-5C>T	NLRC3	Single nucleotide variant (intron variant)	not provided	GBenign

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