10288[Gene ID] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151481	GRCh37/hg19 19q13.42(chr19:54769799-54835745)x3	LILRA3, LILRA5 +6 more	Copy number gain	See cases	GBenign
Select item 151454	GRCh37/hg19 19q13.42(chr19:54769799-54864136)x3	LOC126862931, LAIR1 +10 more	Copy number gain	See cases	GLikely benign
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 2281553	NM_001080978.4(LILRB2):c.1766G>A (p.Ser589Asn)	LILRB2 (S474N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223532	NM_001080978.4(LILRB2):c.1754C>T (p.Pro585Leu)	LILRB2 (P585L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209017	NM_001080978.4(LILRB2):c.1679C>T (p.Thr560Ile)	LILRB2 (T560I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368496	NM_001080978.4(LILRB2):c.1666C>T (p.Pro556Ser)	LILRB2 (P441S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290707	NM_001080978.4(LILRB2):c.1648G>C (p.Ala550Pro)	LILRB2 (A550P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650437	NM_001080978.4(LILRB2):c.1623A>G (p.Glu541=)	LILRB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2566859	NM_001080978.4(LILRB2):c.1573G>T (p.Asp525Tyr)	LILRB2 (D410Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650438	NM_001080978.4(LILRB2):c.1524G>A (p.Gly508=)	LILRB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2547121	NM_001080978.4(LILRB2):c.1492G>T (p.Ala498Ser)	LILRB2 (A383S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397294	NM_001080978.4(LILRB2):c.1487G>C (p.Arg496Thr)	LILRB2 (R496T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551647	NM_001080978.4(LILRB2):c.1457G>A (p.Arg486His)	LILRB2 (R486H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290705	NM_001080978.4(LILRB2):c.1448G>A (p.Arg483Gln)	LILRB2 (R484Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650439	NM_001080978.4(LILRB2):c.1405G>A (p.Val469Ile)	LILRB2 (V354I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2650440	NM_001080978.4(LILRB2):c.1380T>G (p.Val460=)	LILRB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3290698	NM_001080978.4(LILRB2):c.1378G>C (p.Val460Leu)	LILRB2 (V460L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321450	NM_001080978.4(LILRB2):c.1361T>C (p.Leu454Pro)	LILRB2 (L339P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118790	NM_001080978.4(LILRB2):c.1279C>A (p.Pro427Thr)	LILRB2 (P311T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373912	NM_001080978.4(LILRB2):c.1249G>A (p.Val417Met)	LILRB2 (V301M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409238	NM_001080978.4(LILRB2):c.1237C>A (p.Pro413Thr)	LILRB2 (P297T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455044	NM_001080978.4(LILRB2):c.1236G>C (p.Glu412Asp)	LILRB2 (E412D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364161	NM_001080978.4(LILRB2):c.1222T>A (p.Ser408Thr)	LILRB2 (S292T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2551496	NM_001080978.4(LILRB2):c.1220T>C (p.Leu407Pro)	LILRB2 (L291P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290710	NM_001080978.4(LILRB2):c.1178C>A (p.Thr393Asn)	LILRB2 (T393N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335447	NM_001080978.4(LILRB2):c.1160C>T (p.Thr387Ile)	LILRB2 (T387I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395269	NM_001080978.4(LILRB2):c.1128G>C (p.Lys376Asn)	LILRB2 (K260N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650441	NM_001080978.4(LILRB2):c.1104A>C (p.Leu368=)	LILRB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2524423	NM_001080978.4(LILRB2):c.1100G>A (p.Arg367His)	LILRB2 (R367H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650442	NM_001080978.4(LILRB2):c.1095A>C (p.Pro365=)	LILRB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3118789	NM_001080978.4(LILRB2):c.1093C>G (p.Pro365Ala)	LILRB2 (P365A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650443	NM_001080978.4(LILRB2):c.1008C>G (p.Ala336=)	LILRB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624279	NM_001080978.4(LILRB2):c.1001C>T (p.Thr334Ile)	LILRB2 (T334I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368420	NM_001080978.4(LILRB2):c.961A>T (p.Ile321Phe)	LILRB2 (I205F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246688	NM_001080978.4(LILRB2):c.919T>G (p.Ser307Ala)	LILRB2 (S307A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610089	NM_001080978.4(LILRB2):c.905T>C (p.Leu302Pro)	LILRB2 (L186P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290702	NM_001080978.4(LILRB2):c.892G>A (p.Gly298Ser)	LILRB2 (G182S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290703	NM_001080978.4(LILRB2):c.889T>C (p.Tyr297His)	LILRB2 (Y181H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290701	NM_001080978.4(LILRB2):c.809G>A (p.Arg270Gln)	LILRB2 (R154Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589565	NM_001080978.4(LILRB2):c.794G>A (p.Arg265His)	LILRB2 (R149H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624064	NM_001080978.4(LILRB2):c.641T>A (p.Leu214Gln)	LILRB2, LOC126862931 (L214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350707	NM_001080978.4(LILRB2):c.641T>C (p.Leu214Pro)	LILRB2, LOC126862931 (L214P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118794	NM_001080978.4(LILRB2):c.625T>C (p.Ser209Pro)	LILRB2, LOC126862931 (S93P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366526	NM_001080978.4(LILRB2):c.614A>G (p.Tyr205Cys)	LILRB2, LOC126862931 (Y205C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290708	NM_001080978.4(LILRB2):c.602T>C (p.Leu201Ser)	LOC126862931, LILRB2 (L201S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2407213	NM_001080978.4(LILRB2):c.593G>C (p.Gly198Ala)	LILRB2, LOC126862931 (G198A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388414	NM_001080978.4(LILRB2):c.586T>A (p.Cys196Ser)	LILRB2, LOC126862931 (C196S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400879	NM_001080978.4(LILRB2):c.580C>T (p.His194Tyr)	LILRB2, LOC126862931 (H194Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2400885	NM_001080978.4(LILRB2):c.578C>G (p.Ser193Trp)	LILRB2, LOC126862931 (S193W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118793	NM_001080978.4(LILRB2):c.569G>A (p.Arg190His)	LILRB2, LOC126862931 (R190H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3290700	NM_001080978.4(LILRB2):c.566A>G (p.Asn189Ser)	LILRB2, LOC126862931 (N189S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3118792	NM_001080978.4(LILRB2):c.562C>T (p.Pro188Ser)	LILRB2, LOC126862931 (P188S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457843	NM_001080978.4(LILRB2):c.556G>A (p.Val186Met)	LILRB2, LOC126862931 (V186M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650444	NM_001080978.4(LILRB2):c.543C>T (p.Phe181=)	LILRB2, LOC126862931	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2386949	NM_001080978.4(LILRB2):c.535G>C (p.Ala179Pro)	LILRB2, LOC126862931 (A179P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346599	NM_001080978.4(LILRB2):c.521G>A (p.Arg174His)	LILRB2, LOC126862931 (R58H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3290711	NM_001080978.4(LILRB2):c.454G>A (p.Gly152Ser)	LILRB2, LOC126862931 (G36S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511415	NM_001080978.4(LILRB2):c.401T>G (p.Val134Gly)	LILRB2, LOC126862931 (V134G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370405	NM_001080978.4(LILRB2):c.393C>A (p.Ser131Arg)	LILRB2, LOC126862931 (S131R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306206	NM_001080978.4(LILRB2):c.388C>T (p.Pro130Ser)	LILRB2, LOC126862931 (P130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290713	NM_001080978.4(LILRB2):c.374C>T (p.Thr125Ile)	LILRB2, LOC126862931 (T9I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293919	NM_001080978.4(LILRB2):c.341T>G (p.Val114Gly)	LILRB2, LOC126862931 (V114G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372306	NM_001080978.4(LILRB2):c.262A>G (p.Ile88Val)	LILRB2, LOC126862931 (I88V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330149	NM_001080978.4(LILRB2):c.233T>G (p.Val78Gly)	LILRB2, LOC126862931 (V78G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290712	NM_001080978.4(LILRB2):c.223C>T (p.Pro75Ser)	LILRB2, LOC126862931 (P75S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267458	NM_001080978.4(LILRB2):c.215G>A (p.Arg72Gln)	LILRB2, LOC126862931 (R72Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290706	NM_001080978.4(LILRB2):c.214C>T (p.Arg72Trp)	LILRB2, LOC126862931 (R72W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280175	NM_001080978.4(LILRB2):c.191A>G (p.Lys64Arg)	LILRB2, LOC126862931 (K64R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620785	NM_001080978.4(LILRB2):c.121C>A (p.Gln41Lys)	LILRB2, LOC126862931 (Q41K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290704	NM_001080978.4(LILRB2):c.119C>T (p.Thr40Ile)	LILRB2, LOC126862931 (T40I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242700	NC_000019.9:g.(?_54621659)_(54797848_?)dup	CNOT3, LENG1 +9 more	Duplication	not provided	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 2672793	GRCh37/hg19 19q13.42(chr19:54544215-54881884)x3	CNOT3, LAIR1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG7, CACNG8 +51 more	Duplication	not provided	GUncertain significance
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 980771	GRCh37/hg19 19q13.42(chr19:54659105-54916280)x3	CNOT3, LAIR1 +12 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 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 425531	GRCh37/hg19 19q13.42(chr19:54754462-54866330)x3	LAIR1, LILRA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 394573	GRCh37/hg19 19q13.42(chr19:54726783-54844690)x3	LILRA3, LILRA5 +4 more	Copy number gain	See cases	GBenign
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 97