NLRC5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic
Select item 102973	NM_001330552.1(NLRC5):c.-1074G>A	NLRC5	Single nucleotide variant	not provided	Gnot provided
Select item 102974	NM_001330552.1(NLRC5):c.-1063G>A	NLRC5	Single nucleotide variant	not provided	Gnot provided
Select item 102975	NM_001330552.1(NLRC5):c.-796C>G	NLRC5	Single nucleotide variant	not provided	Gnot provided
Select item 102976	NC_000016.10:g.56989205C>T	NLRC5	Single nucleotide variant	not provided	Gnot provided
Select item 102977	NM_001330552.1(NLRC5):c.-483G>A	NLRC5	Single nucleotide variant	not provided	Gnot provided
Select item 102978	NC_000016.10:g.56989465C>G	NLRC5	Single nucleotide variant	not provided	Gnot provided
Select item 103154	NM_001384950.1(NLRC5):c.-12-157T>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2255391	NM_001384950.1(NLRC5):c.14G>T (p.Gly5Val)	NLRC5 (G5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293505	NM_001384950.1(NLRC5):c.68A>C (p.Lys23Thr)	NLRC5 (K23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222026	NM_001384950.1(NLRC5):c.88G>A (p.Ala30Thr)	NLRC5 (A30T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283585	NM_001384950.1(NLRC5):c.126T>G (p.Asp42Glu)	NLRC5 (D42E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371903	NM_001384950.1(NLRC5):c.136G>A (p.Glu46Lys)	NLRC5 (E46K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211671	NM_001384950.1(NLRC5):c.155A>G (p.Gln52Arg)	NLRC5 (Q52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298258	NM_001384950.1(NLRC5):c.278C>G (p.Thr93Ser)	NLRC5 (T93S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103171	NM_001384950.1(NLRC5):c.296-29A>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103182	NM_001384950.1(NLRC5):c.356-122C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103183	NM_001384950.1(NLRC5):c.356-88G>A	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103193	NM_001384950.1(NLRC5):c.424+46C>G	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103191	NM_001384950.1(NLRC5):c.424+238C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103192	NM_001384950.1(NLRC5):c.424+276C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2616707	NM_001384950.1(NLRC5):c.476A>G (p.Tyr159Cys)	NLRC5 (Y159C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320721	NM_001384950.1(NLRC5):c.482G>A (p.Ser161Asn)	NLRC5 (S161N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384375	NM_001384950.1(NLRC5):c.550G>A (p.Ala184Thr)	NLRC5 (A184T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358804	NM_001384950.1(NLRC5):c.595G>A (p.Val199Ile)	NLRC5 (V199I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222025	NM_001384950.1(NLRC5):c.596T>C (p.Val199Ala)	NLRC5 (V199A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623089	NM_001384950.1(NLRC5):c.614C>T (p.Ala205Val)	NLRC5 (A205V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288455	NM_001384950.1(NLRC5):c.659G>A (p.Gly220Asp)	NLRC5 (G220D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226221	NM_001384950.1(NLRC5):c.662C>T (p.Pro221Leu)	NLRC5 (P221L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2646553	NM_001384950.1(NLRC5):c.718C>T (p.Arg240Trp)	NLRC5 (R240W)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2533654	NM_001384950.1(NLRC5):c.748C>G (p.Leu250Val)	NLRC5 (L250V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 103211	NM_001384950.1(NLRC5):c.847A>G (p.Ser283Gly)	NLRC5 (S283G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103212	NM_001384950.1(NLRC5):c.856T>G (p.Ser286Ala)	NLRC5 (S286A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2375686	NM_001384950.1(NLRC5):c.878A>G (p.Gln293Arg)	NLRC5 (Q236R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549392	NM_001384950.1(NLRC5):c.1134C>G (p.His378Gln)	NLRC5 (H378Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 725690	NM_001384950.1(NLRC5):c.1143C>T (p.Ser381=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2346977	NM_001384950.1(NLRC5):c.1154C>T (p.Ser385Leu)	NLRC5 (S385L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 712627	NM_001384950.1(NLRC5):c.1212G>A (p.Ala404=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2458338	NM_001384950.1(NLRC5):c.1270G>A (p.Ala424Thr)	NLRC5 (A367T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717420	NM_001384950.1(NLRC5):c.1281G>T (p.Gln427His)	NLRC5 (Q427H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2356480	NM_001384950.1(NLRC5):c.1303A>G (p.Met435Val)	NLRC5 (M435V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2468237	NM_001384950.1(NLRC5):c.1319T>C (p.Met440Thr)	NLRC5 (M440T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257698	NM_001384950.1(NLRC5):c.1336C>T (p.Leu446Phe)	NLRC5 (L446F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372547	NM_001384950.1(NLRC5):c.1345C>G (p.Pro449Ala)	NLRC5 (P392A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255508	NM_001384950.1(NLRC5):c.1420A>G (p.Ile474Val)	NLRC5 (I474V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224254	NM_001384950.1(NLRC5):c.1435G>C (p.Asp479His)	NLRC5 (D422H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311567	NM_001384950.1(NLRC5):c.1447C>T (p.Pro483Ser)	NLRC5 (P483S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2646554	NM_001384950.1(NLRC5):c.1591A>C (p.Lys531Gln)	NLRC5 (K474Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 103155	NM_001384950.1(NLRC5):c.1625C>A (p.Thr542Asn)	NLRC5 (T542N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103156	NM_001384950.1(NLRC5):c.2009A>C (p.Asp670Ala)	NLRC5 (D670A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2610314	NM_001384950.1(NLRC5):c.2047G>C (p.Val683Leu)	NLRC5 (V626L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103157	NM_001384950.1(NLRC5):c.2075+113A>G	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103158	NM_001384950.1(NLRC5):c.2075+154T>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103159	NM_001384950.1(NLRC5):c.2076-29C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2397133	NM_001384950.1(NLRC5):c.2101G>A (p.Ala701Thr)	NLRC5 (A644T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294707	NM_001384950.1(NLRC5):c.2183C>A (p.Ala728Asp)	NLRC5 (A671D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349315	NM_001384950.1(NLRC5):c.2195G>A (p.Ser732Asn)	NLRC5 (S732N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471704	NM_001384950.1(NLRC5):c.2270A>G (p.Gln757Arg)	NLRC5 (Q700R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206678	NM_001384950.1(NLRC5):c.2311C>T (p.Arg771Trp)	NLRC5 (R714W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282577	NM_001384950.1(NLRC5):c.2312G>A (p.Arg771Gln)	NLRC5 (R743Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103161	NM_001384950.1(NLRC5):c.2418-213C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103160	NM_001384950.1(NLRC5):c.2418-199T>A	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2316683	NM_001384950.1(NLRC5):c.2447C>T (p.Pro816Leu)	NLRC5 (P759L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103162	NM_001384950.1(NLRC5):c.2477+34T>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103163	NM_001384950.1(NLRC5):c.2477+55C>G	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2383736	NM_001384950.1(NLRC5):c.2498G>A (p.Ser833Asn)	NLRC5 (S776N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2541482	NM_001384950.1(NLRC5):c.2518G>T (p.Ala840Ser)	NLRC5 (A783S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 727634	NM_001384950.1(NLRC5):c.2538G>A (p.Thr846=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 103164	NM_001384950.1(NLRC5):c.2712-121G>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103165	NM_001384950.1(NLRC5):c.2712-34C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 982076	NM_001384950.1(NLRC5):c.2718_2719delinsCG (p.Asn907Asp)	NLRC5 (N850D +2 more)	Indel (missense variant +1 more)	not specified	GBenign
Select item 103166	NM_001384950.1(NLRC5):c.2754G>A (p.Val918=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 2598320	NM_001384950.1(NLRC5):c.2771C>T (p.Ala924Val)	NLRC5 (A867V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717421	NM_001384950.1(NLRC5):c.2772G>A (p.Ala924=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 103167	NM_001384950.1(NLRC5):c.2870+353T>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103168	NM_001384950.1(NLRC5):c.2871-27A>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2395358	NM_001384950.1(NLRC5):c.2875G>A (p.Ala959Thr)	NLRC5 (A931T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 103169	NM_001384950.1(NLRC5):c.2940-161G>A	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2280515	NM_001384950.1(NLRC5):c.2947C>T (p.His983Tyr)	NLRC5 (H903Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103170	NM_001384950.1(NLRC5):c.2947C>G (p.His983Asp)	NLRC5 (H983D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2397473	NM_001384950.1(NLRC5):c.3013G>T (p.Gly1005Cys)	NLRC5 (G925C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520063	NM_001384950.1(NLRC5):c.3014G>T (p.Gly1005Val)	NLRC5 (G1005V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549393	NM_001384950.1(NLRC5):c.3025C>T (p.Leu1009Phe)	NLRC5 (L929F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242015	NM_001384950.1(NLRC5):c.3028G>A (p.Asp1010Asn)	NLRC5 (D982N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486335	NM_001384950.1(NLRC5):c.3034T>C (p.Ser1012Pro)	NLRC5 (S1012P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103172	NM_001384950.1(NLRC5):c.3113+100G>A	LOC130059073, NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2607456	NM_001384950.1(NLRC5):c.3173C>T (p.Thr1058Ile)	NLRC5 (T1030I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103173	NM_001384950.1(NLRC5):c.3203+100G>C	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103174	NM_001384950.1(NLRC5):c.3248+56T>A	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2278460	NM_001384950.1(NLRC5):c.3256T>C (p.Trp1086Arg)	NLRC5 (W1006R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 726104	NM_001384950.1(NLRC5):c.3311G>A (p.Arg1104His)	NLRC5 (R1104H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 103175	NM_001384950.1(NLRC5):c.3338+50C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103176	NM_001384950.1(NLRC5):c.3338+59G>A	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103177	NM_001384950.1(NLRC5):c.3339-404C>T	NLRC5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 728890	NM_001384950.1(NLRC5):c.3339-3C>A	NLRC5	Single nucleotide variant (intron variant)	not provided	GBenign

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