LILRB1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 104

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147949	GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3	FCAR, KIR2DL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 145234	GRCh37/hg19 19q13.42(chr19:55116560-55164779)x1	LILRB1, LILRB4 +1 more	Copy number loss	See cases	GBenign
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 3290690	NM_001081637.3(LILRB1):c.13C>G (p.Leu5Val)	LILRB1 (L5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603806	NM_001081637.3(LILRB1):c.101A>G (p.Glu34Gly)	LILRB1 (E34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118775	NM_001081637.3(LILRB1):c.166C>G (p.Gln56Glu)	LILRB1 (Q56E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341195	NM_001081637.3(LILRB1):c.176G>A (p.Arg59His)	LILRB1 (R59H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2492237	NM_001081637.3(LILRB1):c.196A>G (p.Thr66Ala)	LILRB1 (T66A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485662	NM_001081637.3(LILRB1):c.236A>G (p.Lys79Arg)	LILRB1 (K79R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246134	NM_001081637.3(LILRB1):c.266C>T (p.Thr89Ile)	LILRB1 (T89I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355285	NM_001081637.3(LILRB1):c.284G>A (p.Arg95Gln)	LILRB1 (R95Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2494397	NM_001081637.3(LILRB1):c.386C>T (p.Ala129Val)	LILRB1 (A129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335163	NM_001081637.3(LILRB1):c.401T>A (p.Val134Glu)	LILRB1 (V134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1242843	NM_001081637.3(LILRB1):c.425= (p.Thr142=)	LILRB1	Single nucleotide variant (no sequence alteration +1 more)	not provided	GBenign
Select item 3118781	NM_001081637.3(LILRB1):c.427C>A (p.Leu143Ile)	LILRB1 (L143I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590885	NM_001081637.3(LILRB1):c.486T>G (p.Asp162Glu)	LILRB1 (D162E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118782	NM_001081637.3(LILRB1):c.523C>T (p.Arg175Cys)	LILRB1 (R175C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118785	NM_001081637.3(LILRB1):c.524G>C (p.Arg175Pro)	LILRB1 (R175P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118783	NM_001081637.3(LILRB1):c.524G>A (p.Arg175His)	LILRB1 (R175H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344506	NM_001081637.3(LILRB1):c.536G>A (p.Arg179His)	LILRB1 (R179H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249610	NM_001081637.3(LILRB1):c.629T>C (p.Leu210Pro)	LILRB1 (L210P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323092	NM_001081637.3(LILRB1):c.703A>G (p.Ile235Val)	LILRB1 (I235V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2354629	NM_001081637.3(LILRB1):c.780C>G (p.Asp260Glu)	LILRB1 (D260E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521115	NM_001081637.3(LILRB1):c.781G>A (p.Gly261Arg)	LILRB1 (G261R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290694	NM_001081637.3(LILRB1):c.787C>T (p.Arg263Cys)	LILRB1 (R263C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520094	NM_001081637.3(LILRB1):c.805G>A (p.Ala269Thr)	LILRB1 (A269T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118786	NM_001081637.3(LILRB1):c.811G>A (p.Ala271Thr)	LILRB1 (A271T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118787	NM_001081637.3(LILRB1):c.817C>T (p.Pro273Ser)	LILRB1 (P273S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292551	NM_001081637.3(LILRB1):c.854G>A (p.Gly285Asp)	LILRB1 (G285D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407529	NM_001081637.3(LILRB1):c.866G>C (p.Arg289Pro)	LILRB1 (R289P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382226	NM_001081637.3(LILRB1):c.871T>C (p.Tyr291His)	LILRB1 (Y291H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2515128	NM_001081637.3(LILRB1):c.872A>G (p.Tyr291Cys)	LILRB1 (Y291C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288165	NM_001081637.3(LILRB1):c.874G>A (p.Gly292Arg)	LILRB1 (G292R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118788	NM_001081637.3(LILRB1):c.887G>C (p.Arg296Thr)	LILRB1 (R296T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339630	NM_001081637.3(LILRB1):c.934G>A (p.Asp312Asn)	LILRB1 (D312N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290696	NM_001081637.3(LILRB1):c.949C>G (p.Leu317Val)	LILRB1 (L317V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391305	NM_001081637.3(LILRB1):c.953T>A (p.Ile318Asn)	LILRB1 (I318N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290692	NM_001081637.3(LILRB1):c.974G>C (p.Arg325Thr)	LILRB1 (R325T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3290693	NM_001081637.3(LILRB1):c.975A>C (p.Arg325Ser)	LILRB1 (R325S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366716	NM_001081637.3(LILRB1):c.995C>T (p.Pro332Leu)	LILRB1 (P332L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290695	NM_001081637.3(LILRB1):c.1038T>G (p.Cys346Trp)	LILRB1 (C346W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543335	NM_001081637.3(LILRB1):c.1047G>T (p.Gln349His)	LILRB1 (Q349H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354006	NM_001081637.3(LILRB1):c.1051T>G (p.Trp351Gly)	LILRB1 (W351G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354007	NM_001081637.3(LILRB1):c.1059A>C (p.Gln353His)	LILRB1 (Q353H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3290697	NM_001081637.3(LILRB1):c.1076A>G (p.Lys359Arg)	LILRB1 (K359R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222376	NM_001081637.3(LILRB1):c.1148C>G (p.Pro383Arg)	LILRB1 (P383R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459319	NM_001081637.3(LILRB1):c.1175C>T (p.Ala392Val)	LILRB1 (A392V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217645	NM_001081637.3(LILRB1):c.1213C>T (p.Pro405Ser)	LILRB1 (P405S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290691	NM_001081637.3(LILRB1):c.1225A>T (p.Thr409Ser)	LILRB1 (T409S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367182	NM_001081637.3(LILRB1):c.1265C>G (p.Pro422Arg)	LILRB1 (P422R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259328	NM_001081637.3(LILRB1):c.1289C>T (p.Thr430Ile)	LILRB1 (T430I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612283	NM_001081637.3(LILRB1):c.1375C>T (p.His459Tyr)	LILRB1 (H442Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240102	NM_001081637.3(LILRB1):c.1397T>A (p.Ile466Asn)	LILRB1 (I449N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553604	NM_001081637.3(LILRB1):c.1415T>C (p.Leu472Pro)	LILRB1 (L471P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118773	NM_001081637.3(LILRB1):c.1420C>A (p.Leu474Ile)	LILRB1 (L457I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377517	NM_001081637.3(LILRB1):c.1454G>A (p.Arg485Gln)	LILRB1 (R484Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540975	NM_001081637.3(LILRB1):c.1463G>C (p.Arg488Pro)	LILRB1 (R471P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558310	NM_001081637.3(LILRB1):c.1476C>G (p.His492Gln)	LILRB1 (H491Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459649	NM_001081637.3(LILRB1):c.1484C>T (p.Ser495Leu)	LILRB1 (S495L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621224	NM_001081637.3(LILRB1):c.1507C>G (p.Gln503Glu)	LILRB1 (Q486E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553149	NM_001081637.3(LILRB1):c.1508A>G (p.Gln503Arg)	LILRB1 (Q486R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465160	NM_001081637.3(LILRB1):c.1654C>A (p.Gln552Lys)	LILRB1 (Q551K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556082	NM_001081637.3(LILRB1):c.1666G>A (p.Asp556Asn)	LILRB1 (D538N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247753	NM_001081637.3(LILRB1):c.1669G>A (p.Glu557Lys)	LILRB1 (E539K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523148	NM_001081637.3(LILRB1):c.1744C>T (p.Pro582Ser)	LILRB1 (P580S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479975	NM_001081637.3(LILRB1):c.1751C>G (p.Ser584Cys)	LILRB1 (S566C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118776	NM_001081637.3(LILRB1):c.1784C>T (p.Ala595Val)	LILRB1 (A593V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535555	NM_001081637.3(LILRB1):c.1786G>A (p.Glu596Lys)	LILRB1 (E578K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250824	NM_001081637.3(LILRB1):c.1800G>T (p.Gln600His)	LILRB1 (Q582H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118777	NM_001081637.3(LILRB1):c.1802T>G (p.Met601Arg)	LILRB1 (M583R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288164	NM_001081637.3(LILRB1):c.1816G>A (p.Ala606Thr)	LILRB1 (A606T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118778	NM_001081637.3(LILRB1):c.1829C>T (p.Ala610Val)	LILRB1 (A610V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595008	NM_001081637.3(LILRB1):c.1877G>A (p.Arg626Gln)	LILRB1 (R626Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1175563	NM_001081637.3(LILRB1):c.1879G>A (p.Glu627Lys)	LILRB1 (E609K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3118779	NM_001081637.3(LILRB1):c.1883C>G (p.Ala628Gly)	LILRB1 (A628G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367844	NM_001081637.3(LILRB1):c.1895C>A (p.Pro632His)	LILRB1 (P614H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338540	NM_001081637.3(LILRB1):c.1931G>A (p.Ser644Asn)	LILRB1 (S642N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 1340513	GRCh37/hg19 19q13.42(chr19:55029433-55157759)x1	LILRA1, LILRA2 +1 more	Copy number loss	not provided	GLikely benign
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 816094	GRCh37/hg19 19q13.42(chr19:55017885-55157759)x1	LILRA1, LAIR2 +2 more	Copy number loss	not provided	GLikely benign
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394792	GRCh37/hg19 19q13.42(chr19:55148430-55176347)x1	LILRB1, LILRB4	Copy number loss	See cases	GBenign
Select item 394791	GRCh37/hg19 19q13.42(chr19:55148430-55176347)x3	LILRB1, LILRB4	Copy number gain	See cases	GBenign
Select item 394539	GRCh37/hg19 19q13.42(chr19:55028722-55148430)x1	LILRA1, LILRA2 +1 more	Copy number loss	See cases	GBenign

<< First< Prev

Page of 2