ClinVar for Gene (Select 114132) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318494	NM_052884.3(SIGLEC11):c.1118T>G (p.Leu373Arg)	SIGLEC11 (L373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318493	NM_052884.3(SIGLEC11):c.1702G>A (p.Gly568Ser)	SIGLEC11 (G568S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318492	NM_052884.3(SIGLEC11):c.154G>C (p.Val52Leu)	SIGLEC11 (V52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318491	NM_052884.3(SIGLEC11):c.1339G>A (p.Val447Ile)	SIGLEC11 (V447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318490	NM_052884.3(SIGLEC11):c.1417T>C (p.Cys473Arg)	SIGLEC11 (C473R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318489	NM_052884.3(SIGLEC11):c.2042G>A (p.Gly681Asp)	SIGLEC11 (G681D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318488	NM_052884.3(SIGLEC11):c.1357G>C (p.Val453Leu)	SIGLEC11 (V453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318487	NM_052884.3(SIGLEC11):c.68T>C (p.Leu23Pro)	SIGLEC11 (L23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162167	NM_052884.3(SIGLEC11):c.9G>A (p.Pro3=)	SIGLEC11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3162166	NM_052884.3(SIGLEC11):c.992G>A (p.Arg331His)	SIGLEC11 (R331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162165	NM_052884.3(SIGLEC11):c.851G>A (p.Arg284Gln)	SIGLEC11 (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162164	NM_052884.3(SIGLEC11):c.737G>A (p.Arg246His)	SIGLEC11 (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162163	NM_052884.3(SIGLEC11):c.676C>T (p.Leu226Phe)	SIGLEC11 (L226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162162	NM_052884.3(SIGLEC11):c.415G>A (p.Val139Met)	SIGLEC11 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162161	NM_052884.3(SIGLEC11):c.373G>A (p.Asp125Asn)	SIGLEC11 (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162160	NM_052884.3(SIGLEC11):c.324T>A (p.Asp108Glu)	SIGLEC11 (D108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162159	NM_052884.3(SIGLEC11):c.290T>C (p.Met97Thr)	SIGLEC11 (M97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162158	NM_052884.3(SIGLEC11):c.230G>A (p.Arg77Gln)	SIGLEC11 (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162157	NM_052884.3(SIGLEC11):c.1877C>T (p.Pro626Leu)	SIGLEC11 (P530L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162156	NM_052884.3(SIGLEC11):c.1852G>A (p.Ala618Thr)	SIGLEC11 (A618T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162155	NM_052884.3(SIGLEC11):c.178C>T (p.Arg60Trp)	SIGLEC11 (R60W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162153	NM_052884.3(SIGLEC11):c.1610T>C (p.Val537Ala)	SIGLEC11 (V537A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162152	NM_052884.3(SIGLEC11):c.1579G>A (p.Gly527Ser)	SIGLEC11 (G527S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162151	NM_052884.3(SIGLEC11):c.1562A>C (p.His521Pro)	SIGLEC11 (H521P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162150	NM_052884.3(SIGLEC11):c.1367C>T (p.Pro456Leu)	SIGLEC11 (P456L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162149	NM_052884.3(SIGLEC11):c.1316A>G (p.Gln439Arg)	SIGLEC11 (Q439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162148	NM_052884.3(SIGLEC11):c.1291G>A (p.Glu431Lys)	SIGLEC11 (E431K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162147	NM_052884.3(SIGLEC11):c.125T>G (p.Val42Gly)	SIGLEC11 (V42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162146	NM_052884.3(SIGLEC11):c.1223A>G (p.Gln408Arg)	SIGLEC11 (Q408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162145	NM_052884.3(SIGLEC11):c.1125C>A (p.Asn375Lys)	SIGLEC11 (N375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162144	NM_052884.3(SIGLEC11):c.1093G>A (p.Ala365Thr)	SIGLEC11 (A365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
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 2650293	NM_052884.3(SIGLEC11):c.1275C>T (p.Pro425=)	SIGLEC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621859	NM_052884.3(SIGLEC11):c.317C>T (p.Thr106Ile)	SIGLEC11 (T106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599442	NM_052884.3(SIGLEC11):c.1892C>G (p.Thr631Ser)	SIGLEC11 (T535S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590012	NM_052884.3(SIGLEC11):c.1304C>G (p.Thr435Ser)	SIGLEC11 (T435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570409	NM_052884.3(SIGLEC11):c.1615G>A (p.Gly539Arg)	SIGLEC11 (G539R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553690	NM_052884.3(SIGLEC11):c.299G>A (p.Arg100Gln)	SIGLEC11 (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524096	NM_052884.3(SIGLEC11):c.1055A>T (p.Gln352Leu)	SIGLEC11 (Q352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517290	NM_052884.3(SIGLEC11):c.1573A>G (p.Ser525Gly)	SIGLEC11 (S525G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515152	NM_052884.3(SIGLEC11):c.515C>T (p.Pro172Leu)	SIGLEC11 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512570	NM_052884.3(SIGLEC11):c.1531G>A (p.Gly511Arg)	SIGLEC11 (G511R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485361	NM_052884.3(SIGLEC11):c.103A>G (p.Ser35Gly)	SIGLEC11 (S35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457245	NM_052884.3(SIGLEC11):c.974G>A (p.Arg325Lys)	SIGLEC11 (R325K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457244	NM_052884.3(SIGLEC11):c.965G>C (p.Arg322Pro)	SIGLEC11 (R322P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454972	NM_052884.3(SIGLEC11):c.1120G>A (p.Gly374Arg)	SIGLEC11 (G374R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426877	NC_000019.9:g.(?_50411496)_(50766697_?)dup	ATF5, IL4I1 +6 more	Duplication	not provided	GUncertain significance
Select item 2393290	NM_052884.3(SIGLEC11):c.1214G>A (p.Arg405Gln)	SIGLEC11 (R405Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389800	NM_052884.3(SIGLEC11):c.1457G>C (p.Arg486Pro)	SIGLEC11 (R486P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382108	NM_052884.3(SIGLEC11):c.1741G>A (p.Val581Ile)	SIGLEC11 (V485I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375039	NM_052884.3(SIGLEC11):c.1860C>G (p.Ser620Arg)	SIGLEC11 (S524R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373674	NM_052884.3(SIGLEC11):c.1126G>A (p.Gly376Ser)	SIGLEC11 (G376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369877	NM_052884.3(SIGLEC11):c.1448C>G (p.Pro483Arg)	SIGLEC11 (P483R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365303	NM_052884.3(SIGLEC11):c.2018T>G (p.Ile673Ser)	SIGLEC11 (I673S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363403	NM_052884.3(SIGLEC11):c.1072C>G (p.Leu358Val)	SIGLEC11 (L358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359208	NM_052884.3(SIGLEC11):c.1973C>T (p.Ala658Val)	SIGLEC11 (A562V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350831	NM_052884.3(SIGLEC11):c.1343C>T (p.Ser448Phe)	SIGLEC11 (S448F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348273	NM_052884.3(SIGLEC11):c.361G>A (p.Ala121Thr)	SIGLEC11 (A121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347899	NM_052884.3(SIGLEC11):c.1139C>T (p.Pro380Leu)	SIGLEC11 (P380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321953	NM_052884.3(SIGLEC11):c.1510G>A (p.Glu504Lys)	SIGLEC11 (E504K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302050	NM_052884.3(SIGLEC11):c.790T>A (p.Ser264Thr)	SIGLEC11 (S264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293819	NM_052884.3(SIGLEC11):c.1281A>T (p.Gln427His)	SIGLEC11 (Q427H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279809	NM_052884.3(SIGLEC11):c.1516A>T (p.Thr506Ser)	SIGLEC11 (T506S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267609	NM_052884.3(SIGLEC11):c.514C>G (p.Pro172Ala)	SIGLEC11 (P172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266262	NM_052884.3(SIGLEC11):c.1664A>G (p.His555Arg)	SIGLEC11 (H459R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251216	NM_052884.3(SIGLEC11):c.1819C>A (p.Pro607Thr)	SIGLEC11 (P511T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248602	NM_052884.3(SIGLEC11):c.1111G>A (p.Glu371Lys)	SIGLEC11 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244714	NM_052884.3(SIGLEC11):c.991C>T (p.Arg331Cys)	SIGLEC11 (R331C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238462	NM_052884.3(SIGLEC11):c.727G>A (p.Val243Ile)	SIGLEC11 (V243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232825	NM_052884.3(SIGLEC11):c.1708G>A (p.Ala570Thr)	SIGLEC11 (A474T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219860	NM_052884.3(SIGLEC11):c.1304C>T (p.Thr435Ile)	SIGLEC11 (T435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215049	NM_052884.3(SIGLEC11):c.64G>A (p.Val22Met)	SIGLEC11 (V22M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212013	NM_052884.3(SIGLEC11):c.154G>A (p.Val52Met)	SIGLEC11 (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208795	NM_052884.3(SIGLEC11):c.284T>C (p.Val95Ala)	SIGLEC11 (V95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526671	GRCh37/hg19 19q13.33(chr19:50355646-50552140)	AKT1S1, ATF5 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
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 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 785638	NM_052884.3(SIGLEC11):c.1456C>G (p.Arg486Gly)	SIGLEC11 (R486G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774528	NM_052884.3(SIGLEC11):c.1776C>T (p.Arg592=)	SIGLEC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770296	NM_052884.3(SIGLEC11):c.793G>T (p.Ala265Ser)	SIGLEC11 (A265S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770295	NM_052884.3(SIGLEC11):c.1094C>G (p.Ala365Gly)	SIGLEC11 (A365G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769041	NM_052884.3(SIGLEC11):c.469A>C (p.Lys157Gln)	SIGLEC11 (K157Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769040	NM_052884.3(SIGLEC11):c.779A>G (p.His260Arg)	SIGLEC11 (H260R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769039	NM_052884.3(SIGLEC11):c.789G>A (p.Thr263=)	SIGLEC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730516	NM_052884.3(SIGLEC11):c.1058-8C>T	SIGLEC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730463	NM_052884.3(SIGLEC11):c.1794G>A (p.Glu598=)	SIGLEC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 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 394002	GRCh37/hg19 19q13.33(chr19:50391979-50665993)x3	ATF5, IL4I1 +6 more	Copy number gain	See cases	GUncertain significance
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 96