ClinVar for Gene (Select 6614) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	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 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic
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 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2652187	NM_023068.4(SIGLEC1):c.262G>T (p.Glu88Ter)	SIGLEC1 (E88*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2652186	NM_023068.4(SIGLEC1):c.453C>T (p.Leu151=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652185	NM_023068.4(SIGLEC1):c.1918G>A (p.Asp640Asn)	SIGLEC1 (D640N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652184	NM_023068.4(SIGLEC1):c.1962C>T (p.Ser654=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2652182	NM_023068.4(SIGLEC1):c.3930A>C (p.Ser1310=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2652180	NM_023068.4(SIGLEC1):c.4311C>T (p.Ile1437=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652179	NM_023068.4(SIGLEC1):c.4434C>A (p.Thr1478=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	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 2652177	NM_023068.4(SIGLEC1):c.4468G>A (p.Ala1490Thr)	SIGLEC1 (A1490T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2622890	NM_023068.4(SIGLEC1):c.4444T>C (p.Phe1482Leu)	SIGLEC1 (F1482L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619608	NM_023068.4(SIGLEC1):c.2158C>G (p.Gln720Glu)	SIGLEC1 (Q720E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618583	NM_023068.4(SIGLEC1):c.265T>G (p.Phe89Val)	SIGLEC1 (F89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614938	NM_023068.4(SIGLEC1):c.1834G>T (p.Ala612Ser)	SIGLEC1 (A612S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612820	NM_023068.4(SIGLEC1):c.1175T>G (p.Val392Gly)	SIGLEC1 (V392G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612668	NM_023068.4(SIGLEC1):c.2017C>T (p.Arg673Cys)	SIGLEC1 (R673C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605764	NM_023068.4(SIGLEC1):c.4007G>A (p.Arg1336His)	SIGLEC1 (R1336H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604953	NM_023068.4(SIGLEC1):c.1811C>T (p.Thr604Ile)	SIGLEC1 (T604I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601639	NM_023068.4(SIGLEC1):c.3283G>A (p.Ala1095Thr)	SIGLEC1 (A1095T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2596547	NM_023068.4(SIGLEC1):c.1691C>T (p.Ala564Val)	SIGLEC1 (A564V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596303	NM_023068.4(SIGLEC1):c.3514C>T (p.Pro1172Ser)	SIGLEC1 (P1172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594347	NM_023068.4(SIGLEC1):c.4730A>T (p.Gln1577Leu)	SIGLEC1 (Q1577L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594154	NM_023068.4(SIGLEC1):c.1049A>G (p.Asn350Ser)	SIGLEC1 (N350S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591542	NM_023068.4(SIGLEC1):c.1423C>T (p.Arg475Cys)	SIGLEC1 (R475C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2590582	NM_023068.4(SIGLEC1):c.364G>A (p.Val122Ile)	SIGLEC1 (V122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2560015	NM_023068.4(SIGLEC1):c.5038G>A (p.Val1680Met)	SIGLEC1 (V1680M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558045	NM_023068.4(SIGLEC1):c.2725G>A (p.Gly909Ser)	SIGLEC1 (G909S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553548	NM_023068.4(SIGLEC1):c.332G>T (p.Gly111Val)	SIGLEC1 (G111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543904	NM_023068.4(SIGLEC1):c.3443G>A (p.Arg1148His)	SIGLEC1 (R1148H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533579	NM_023068.4(SIGLEC1):c.4508G>A (p.Arg1503His)	SIGLEC1 (R1503H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531459	NM_023068.4(SIGLEC1):c.1492G>A (p.Gly498Arg)	SIGLEC1 (G498R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522141	NM_023068.4(SIGLEC1):c.1787A>G (p.Tyr596Cys)	SIGLEC1 (Y596C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521296	NM_023068.4(SIGLEC1):c.3400A>G (p.Ile1134Val)	SIGLEC1 (I1134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520964	NM_023068.4(SIGLEC1):c.3886C>T (p.His1296Tyr)	SIGLEC1 (H1296Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519624	NM_023068.4(SIGLEC1):c.3628C>T (p.Arg1210Cys)	SIGLEC1 (R1210C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519249	NM_023068.4(SIGLEC1):c.3863C>G (p.Ala1288Gly)	SIGLEC1 (A1288G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515682	NM_023068.4(SIGLEC1):c.2057T>C (p.Leu686Ser)	SIGLEC1 (L686S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514479	NM_023068.4(SIGLEC1):c.2591G>A (p.Arg864Gln)	SIGLEC1 (R864Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513676	NM_023068.4(SIGLEC1):c.1885G>A (p.Asp629Asn)	SIGLEC1 (D629N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510767	NM_023068.4(SIGLEC1):c.4489G>A (p.Ala1497Thr)	SIGLEC1 (A1497T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2510367	NM_023068.4(SIGLEC1):c.1424G>A (p.Arg475His)	SIGLEC1 (R475H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509526	NM_023068.4(SIGLEC1):c.109C>A (p.Leu37Met)	SIGLEC1 (L37M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495482	NM_023068.4(SIGLEC1):c.2214C>A (p.Ser738Arg)	SIGLEC1 (S738R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494462	NM_023068.4(SIGLEC1):c.1899G>T (p.Arg633Ser)	SIGLEC1 (R633S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485819	NM_023068.4(SIGLEC1):c.3100C>A (p.Pro1034Thr)	SIGLEC1 (P1034T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478001	NM_023068.4(SIGLEC1):c.751A>C (p.Asn251His)	SIGLEC1 (N251H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474833	NM_023068.4(SIGLEC1):c.4142A>T (p.His1381Leu)	SIGLEC1 (H1381L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472760	NM_023068.4(SIGLEC1):c.4229G>A (p.Arg1410Gln)	SIGLEC1 (R1410Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472592	NM_023068.4(SIGLEC1):c.352G>A (p.Glu118Lys)	SIGLEC1 (E118K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472514	NM_023068.4(SIGLEC1):c.4664G>A (p.Arg1555Gln)	SIGLEC1 (R1555Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472230	NM_023068.4(SIGLEC1):c.1921C>T (p.Arg641Cys)	SIGLEC1 (R641C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463228	NM_023068.4(SIGLEC1):c.3016C>T (p.Arg1006Cys)	SIGLEC1 (R1006C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462551	NM_023068.4(SIGLEC1):c.1887C>A (p.Asp629Glu)	SIGLEC1 (D629E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460793	NM_023068.4(SIGLEC1):c.2005C>T (p.Pro669Ser)	SIGLEC1 (P669S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460402	NM_023068.4(SIGLEC1):c.3862G>C (p.Ala1288Pro)	SIGLEC1 (A1288P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2457709	NM_023068.4(SIGLEC1):c.1993G>T (p.Val665Phe)	SIGLEC1 (V665F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADISSP, AP5S1 +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2410829	NM_023068.4(SIGLEC1):c.3947G>A (p.Arg1316Gln)	SIGLEC1 (R1316Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401746	NM_023068.4(SIGLEC1):c.911C>T (p.Thr304Ile)	SIGLEC1 (T304I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391072	NM_023068.4(SIGLEC1):c.2483C>T (p.Ala828Val)	SIGLEC1 (A828V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385535	NM_023068.4(SIGLEC1):c.4310T>C (p.Ile1437Thr)	SIGLEC1 (I1437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384930	NM_023068.4(SIGLEC1):c.4501G>A (p.Val1501Met)	SIGLEC1 (V1501M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381110	NM_023068.4(SIGLEC1):c.3926T>C (p.Leu1309Pro)	SIGLEC1 (L1309P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377242	NM_023068.4(SIGLEC1):c.4409G>A (p.Gly1470Asp)	SIGLEC1 (G1470D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376585	NM_023068.4(SIGLEC1):c.3058G>A (p.Gly1020Arg)	SIGLEC1 (G1020R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365263	NM_023068.4(SIGLEC1):c.1216G>A (p.Val406Met)	SIGLEC1 (V406M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362021	NM_023068.4(SIGLEC1):c.1972G>T (p.Gly658Cys)	SIGLEC1 (G658C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359820	NM_023068.4(SIGLEC1):c.3674G>A (p.Arg1225His)	SIGLEC1 (R1225H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358619	NM_023068.4(SIGLEC1):c.1829A>G (p.Asp610Gly)	SIGLEC1 (D610G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354284	NM_023068.4(SIGLEC1):c.1195G>A (p.Glu399Lys)	SIGLEC1 (E399K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346155	NM_023068.4(SIGLEC1):c.221C>T (p.Ala74Val)	SIGLEC1 (A74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343548	NM_023068.4(SIGLEC1):c.253G>A (p.Gly85Ser)	SIGLEC1 (G85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334465	NM_023068.4(SIGLEC1):c.85G>A (p.Val29Met)	SIGLEC1 (V29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331559	NM_023068.4(SIGLEC1):c.1529C>T (p.Ala510Val)	SIGLEC1 (A510V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2312097	NM_023068.4(SIGLEC1):c.685G>A (p.Glu229Lys)	SIGLEC1 (E229K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311731	NM_023068.4(SIGLEC1):c.1472G>A (p.Cys491Tyr)	SIGLEC1 (C491Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303711	NM_023068.4(SIGLEC1):c.589G>A (p.Gly197Ser)	SIGLEC1 (G197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2298447	NM_023068.4(SIGLEC1):c.2751G>C (p.Gln917His)	SIGLEC1 (Q917H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295203	NM_023068.4(SIGLEC1):c.4579C>T (p.Leu1527Phe)	SIGLEC1 (L1527F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291707	NM_023068.4(SIGLEC1):c.1364C>T (p.Thr455Ile)	SIGLEC1 (T455I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284670	NM_023068.4(SIGLEC1):c.881A>G (p.Gln294Arg)	SIGLEC1 (Q294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274808	NM_023068.4(SIGLEC1):c.2909C>T (p.Thr970Met)	SIGLEC1 (T970M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273537	NM_023068.4(SIGLEC1):c.3991G>A (p.Gly1331Ser)	SIGLEC1 (G1331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270613	NM_023068.4(SIGLEC1):c.142G>A (p.Asp48Asn)	SIGLEC1 (D48N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2267781	NM_023068.4(SIGLEC1):c.2438C>T (p.Ala813Val)	SIGLEC1 (A813V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260259	NM_023068.4(SIGLEC1):c.3835G>T (p.Val1279Leu)	SIGLEC1 (V1279L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258768	NM_023068.4(SIGLEC1):c.3400A>C (p.Ile1134Leu)	SIGLEC1 (I1134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255463	NM_023068.4(SIGLEC1):c.3875A>G (p.Tyr1292Cys)	SIGLEC1 (Y1292C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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