SIGLEC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 730631	NM_023068.4(SIGLEC1):c.5101del (p.Thr1701fs)	SIGLEC1 (R1676fs +1 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 3162129	NM_023068.4(SIGLEC1):c.5075T>C (p.Ile1692Thr)	SIGLEC1 (I1692T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2560015	NM_023068.4(SIGLEC1):c.5038G>A (p.Val1680Met)	SIGLEC1 (V1680M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240824	NM_023068.4(SIGLEC1):c.5029G>C (p.Glu1677Gln)	SIGLEC1 (E1677Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 712275	NM_023068.4(SIGLEC1):c.4857G>A (p.Leu1619=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2594347	NM_023068.4(SIGLEC1):c.4730A>T (p.Gln1577Leu)	SIGLEC1 (Q1577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233442	NM_023068.4(SIGLEC1):c.4685C>T (p.Ala1562Val)	SIGLEC1 (A1562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472514	NM_023068.4(SIGLEC1):c.4664G>A (p.Arg1555Gln)	SIGLEC1 (R1555Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318463	NM_023068.4(SIGLEC1):c.4646G>A (p.Arg1549Gln)	SIGLEC1 (R1549Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162128	NM_023068.4(SIGLEC1):c.4643T>A (p.Leu1548His)	SIGLEC1 (L1548H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295203	NM_023068.4(SIGLEC1):c.4579C>T (p.Leu1527Phe)	SIGLEC1 (L1527F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652176	NM_023068.4(SIGLEC1):c.4532G>A (p.Cys1511Tyr)	SIGLEC1 (C1511Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3162127	NM_023068.4(SIGLEC1):c.4522A>C (p.Met1508Leu)	SIGLEC1 (M1508L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533579	NM_023068.4(SIGLEC1):c.4508G>A (p.Arg1503His)	SIGLEC1 (R1503H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384930	NM_023068.4(SIGLEC1):c.4501G>A (p.Val1501Met)	SIGLEC1 (V1501M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510767	NM_023068.4(SIGLEC1):c.4489G>A (p.Ala1497Thr)	SIGLEC1 (A1497T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652177	NM_023068.4(SIGLEC1):c.4468G>A (p.Ala1490Thr)	SIGLEC1 (A1490T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3162126	NM_023068.4(SIGLEC1):c.4460G>A (p.Arg1487Gln)	SIGLEC1 (R1487Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652178	NM_023068.4(SIGLEC1):c.4455C>T (p.Asp1485=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622890	NM_023068.4(SIGLEC1):c.4444T>C (p.Phe1482Leu)	SIGLEC1 (F1482L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652179	NM_023068.4(SIGLEC1):c.4434C>A (p.Thr1478=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377242	NM_023068.4(SIGLEC1):c.4409G>A (p.Gly1470Asp)	SIGLEC1 (G1470D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236962	NM_023068.4(SIGLEC1):c.4351C>T (p.Pro1451Ser)	SIGLEC1 (P1451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652180	NM_023068.4(SIGLEC1):c.4311C>T (p.Ile1437=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385535	NM_023068.4(SIGLEC1):c.4310T>C (p.Ile1437Thr)	SIGLEC1 (I1437T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472760	NM_023068.4(SIGLEC1):c.4229G>A (p.Arg1410Gln)	SIGLEC1 (R1410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590486	NM_023068.4(SIGLEC1):c.4228C>T (p.Arg1410Trp)	SIGLEC1 (R1410W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2652181	NM_023068.4(SIGLEC1):c.4163C>A (p.Thr1388Lys)	SIGLEC1 (T1388K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2474833	NM_023068.4(SIGLEC1):c.4142A>T (p.His1381Leu)	SIGLEC1 (H1381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746964	NM_023068.4(SIGLEC1):c.4053G>C (p.Leu1351=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318469	NM_023068.4(SIGLEC1):c.4044C>A (p.Asp1348Glu)	SIGLEC1 (D1348E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318467	NM_023068.4(SIGLEC1):c.4016C>T (p.Ala1339Val)	SIGLEC1 (A1339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605764	NM_023068.4(SIGLEC1):c.4007G>A (p.Arg1336His)	SIGLEC1 (R1336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273537	NM_023068.4(SIGLEC1):c.3991G>A (p.Gly1331Ser)	SIGLEC1 (G1331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162123	NM_023068.4(SIGLEC1):c.3973C>G (p.Gln1325Glu)	SIGLEC1 (Q1325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410829	NM_023068.4(SIGLEC1):c.3947G>A (p.Arg1316Gln)	SIGLEC1 (R1316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652182	NM_023068.4(SIGLEC1):c.3930A>C (p.Ser1310=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381110	NM_023068.4(SIGLEC1):c.3926T>C (p.Leu1309Pro)	SIGLEC1 (L1309P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520964	NM_023068.4(SIGLEC1):c.3886C>T (p.His1296Tyr)	SIGLEC1 (H1296Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255463	NM_023068.4(SIGLEC1):c.3875A>G (p.Tyr1292Cys)	SIGLEC1 (Y1292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519249	NM_023068.4(SIGLEC1):c.3863C>G (p.Ala1288Gly)	SIGLEC1 (A1288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460402	NM_023068.4(SIGLEC1):c.3862G>C (p.Ala1288Pro)	SIGLEC1 (A1288P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 734868	NM_023068.4(SIGLEC1):c.3846G>A (p.Ala1282=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260259	NM_023068.4(SIGLEC1):c.3835G>T (p.Val1279Leu)	SIGLEC1 (V1279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162122	NM_023068.4(SIGLEC1):c.3815C>A (p.Pro1272His)	SIGLEC1 (P1272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318462	NM_023068.4(SIGLEC1):c.3784C>T (p.Arg1262Trp)	SIGLEC1 (R1262W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024880	NM_023068.4(SIGLEC1):c.3752A>G (p.Asn1251Ser)	SIGLEC1 (N1251S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 765667	NM_023068.4(SIGLEC1):c.3730C>T (p.Arg1244Cys)	SIGLEC1 (R1244C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2359820	NM_023068.4(SIGLEC1):c.3674G>A (p.Arg1225His)	SIGLEC1 (R1225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689984	NM_023068.4(SIGLEC1):c.3673C>T (p.Arg1225Cys)	SIGLEC1 (R1225C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2519624	NM_023068.4(SIGLEC1):c.3628C>T (p.Arg1210Cys)	SIGLEC1 (R1210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214704	NM_023068.4(SIGLEC1):c.3566C>T (p.Ala1189Val)	SIGLEC1 (A1189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162120	NM_023068.4(SIGLEC1):c.3526C>T (p.Arg1176Cys)	SIGLEC1 (R1176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318461	NM_023068.4(SIGLEC1):c.3518G>A (p.Arg1173His)	SIGLEC1 (R1173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596303	NM_023068.4(SIGLEC1):c.3514C>T (p.Pro1172Ser)	SIGLEC1 (P1172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162119	NM_023068.4(SIGLEC1):c.3512C>T (p.Ala1171Val)	SIGLEC1 (A1171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162118	NM_023068.4(SIGLEC1):c.3506T>C (p.Leu1169Pro)	SIGLEC1 (L1169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162117	NM_023068.4(SIGLEC1):c.3476G>A (p.Arg1159His)	SIGLEC1 (R1159H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162116	NM_023068.4(SIGLEC1):c.3475C>A (p.Arg1159Ser)	SIGLEC1 (R1159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162115	NM_023068.4(SIGLEC1):c.3466C>T (p.Arg1156Trp)	SIGLEC1 (R1156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543904	NM_023068.4(SIGLEC1):c.3443G>A (p.Arg1148His)	SIGLEC1 (R1148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652183	NM_023068.4(SIGLEC1):c.3442C>T (p.Arg1148Cys)	SIGLEC1 (R1148C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2242963	NM_023068.4(SIGLEC1):c.3418A>T (p.Thr1140Ser)	SIGLEC1 (T1140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521296	NM_023068.4(SIGLEC1):c.3400A>G (p.Ile1134Val)	SIGLEC1 (I1134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258768	NM_023068.4(SIGLEC1):c.3400A>C (p.Ile1134Leu)	SIGLEC1 (I1134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601639	NM_023068.4(SIGLEC1):c.3283G>A (p.Ala1095Thr)	SIGLEC1 (A1095T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769993	NM_023068.4(SIGLEC1):c.3249C>T (p.Asp1083=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744513	NM_023068.4(SIGLEC1):c.3231G>A (p.Ser1077=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3162114	NM_023068.4(SIGLEC1):c.3104A>C (p.Glu1035Ala)	SIGLEC1 (E1035A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485819	NM_023068.4(SIGLEC1):c.3100C>A (p.Pro1034Thr)	SIGLEC1 (P1034T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318465	NM_023068.4(SIGLEC1):c.3071T>C (p.Val1024Ala)	SIGLEC1 (V1024A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376585	NM_023068.4(SIGLEC1):c.3058G>A (p.Gly1020Arg)	SIGLEC1 (G1020R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162113	NM_023068.4(SIGLEC1):c.3024C>G (p.Asp1008Glu)	SIGLEC1 (D1008E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162112	NM_023068.4(SIGLEC1):c.3023A>T (p.Asp1008Val)	SIGLEC1 (D1008V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162111	NM_023068.4(SIGLEC1):c.3017G>T (p.Arg1006Leu)	SIGLEC1 (R1006L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463228	NM_023068.4(SIGLEC1):c.3016C>T (p.Arg1006Cys)	SIGLEC1 (R1006C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711606	NM_023068.4(SIGLEC1):c.2988C>T (p.Gly996=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2274808	NM_023068.4(SIGLEC1):c.2909C>T (p.Thr970Met)	SIGLEC1 (T970M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162110	NM_023068.4(SIGLEC1):c.2846C>T (p.Ala949Val)	SIGLEC1 (A949V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298447	NM_023068.4(SIGLEC1):c.2751G>C (p.Gln917His)	SIGLEC1 (Q917H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162108	NM_023068.4(SIGLEC1):c.2731G>A (p.Ala911Thr)	SIGLEC1 (A911T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558045	NM_023068.4(SIGLEC1):c.2725G>A (p.Gly909Ser)	SIGLEC1 (G909S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318460	NM_023068.4(SIGLEC1):c.2670C>G (p.Phe890Leu)	SIGLEC1 (F890L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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