UMOD[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 147965	GRCh38/hg38 16p12.3(chr16:19910619-20433405)x4	ACSM5, GP2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 145632	GRCh38/hg38 16p12.3(chr16:20229045-20627132)x1	ACSM1, ACSM2A +6 more	Copy number loss	See cases	GUncertain significance
Select item 884507	NM_003361.4(UMOD):c.*262C>G	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 318276	NM_003361.4(UMOD):c.*231A>G	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 318277	NM_003361.4(UMOD):c.226_229del	UMOD	Deletion (3 prime UTR variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 318278	NM_003361.4(UMOD):c.*130C>T	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 318279	NM_003361.4(UMOD):c.*104C>T	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GBenign
Select item 318280	NM_003361.4(UMOD):c.*88G>A	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 318281	NM_003361.4(UMOD):c.*59G>A	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 885443	NM_003361.4(UMOD):c.*39C>T	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 64441	NM_003361.4(UMOD):c.*8C>T	UMOD	Single nucleotide variant (3 prime UTR variant +1 more)	Kidney disorder	GUncertain significance
Select item 1339921	NM_003361.4(UMOD):c.1919A>G (p.Gln640Arg)	UMOD (Q640R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	Gnot provided
Select item 318282	NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser)	UMOD (F639S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 988178	NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile)	UMOD (T634I +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 1879339	NM_003361.4(UMOD):c.1899C>T (p.Ala633=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2191429	NM_003361.4(UMOD):c.1896G>A (p.Ser632=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1359109	NM_003361.4(UMOD):c.1895C>T (p.Ser632Leu)	UMOD (S679L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2751083	NM_003361.4(UMOD):c.1872A>G (p.Lys624=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963406	NM_003361.4(UMOD):c.1870A>G (p.Lys624Glu)	UMOD (K624E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2902972	NM_003361.4(UMOD):c.1862-10T>C	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965911	NM_003361.4(UMOD):c.1862-17C>A	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261623	NM_003361.4(UMOD):c.1862-192G>A	UMOD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289048	NM_003361.4(UMOD):c.1861+259A>G	UMOD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1946710	NM_003361.4(UMOD):c.1861+10G>A	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933032	NM_003361.4(UMOD):c.1860G>C (p.Leu620Phe)	UMOD (L620F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 318283	NM_003361.4(UMOD):c.1859dup (p.Leu620fs)	UMOD (L653fs +2 more)	Duplication (frameshift variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 2711358	NM_003361.4(UMOD):c.1823-4A>G	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264015	NM_003361.4(UMOD):c.1823-314C>T	UMOD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3002684	NM_003361.4(UMOD):c.1822+16G>A	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900106	NM_003361.4(UMOD):c.1822+16G>T	UMOD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2470706	NM_003361.4(UMOD):c.1817G>A (p.Arg606Gln)	UMOD (R639Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462321	NM_003361.4(UMOD):c.1807C>T (p.Pro603Ser)	UMOD (P650S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544437	NM_003361.4(UMOD):c.1796T>C (p.Leu599Pro)	UMOD (L632P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64444	NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)	UMOD (R588Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1985985	NM_003361.4(UMOD):c.1762C>T (p.Arg588Ter)	UMOD (R621* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 733025	NM_003361.4(UMOD):c.1754C>T (p.Thr585Ile)	UMOD (T585I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318284	NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn)	UMOD (T581N +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GBenign/Likely benign
Select item 2985809	NM_003361.4(UMOD):c.1741-12C>T	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707395	NM_003361.4(UMOD):c.1741-172A>G	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301485	NM_003361.4(UMOD):c.1740+98C>G	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496847	NM_003361.4(UMOD):c.1740+38C>T	UMOD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1165466	NM_003361.4(UMOD):c.1740+18C>T	UMOD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 799450	NM_003361.4(UMOD):c.1740+10C>T	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2614189	NM_003361.4(UMOD):c.1733G>T (p.Cys578Phe)	UMOD (C625F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263867	NM_003361.4(UMOD):c.1725T>A (p.Asn575Lys)	UMOD (N575K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3014159	NM_003361.4(UMOD):c.1705T>G (p.Tyr569Asp)	UMOD (Y602D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579494	NM_003361.4(UMOD):c.1694A>G (p.His565Arg)	UMOD (H565R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253010	NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu)	UMOD (D560E +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GUncertain significance
Select item 840547	NM_003361.4(UMOD):c.1661G>A (p.Arg554Gln)	UMOD (R587Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2323232	NM_003361.4(UMOD):c.1660C>T (p.Arg554Trp)	UMOD (R587W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64443	NM_003361.4(UMOD):c.1648G>A (p.Val550Ile)	UMOD (V550I +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GUncertain significance
Select item 1437395	NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln)	UMOD (R580Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1375130	NM_003361.4(UMOD):c.1639C>T (p.Arg547Ter)	UMOD (R594* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1991271	NM_003361.4(UMOD):c.1636G>A (p.Gly546Ser)	UMOD (G546S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722895	NM_003361.4(UMOD):c.1629C>T (p.Ser543=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 318285	NM_003361.4(UMOD):c.1623G>T (p.Gly541=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2752153	NM_003361.4(UMOD):c.1608A>G (p.Gln536=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976877	NM_003361.4(UMOD):c.1605C>A (p.Ile535=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 598312	NM_003361.4(UMOD):c.1588_1589del (p.His529_Thr530insTer)	UMOD	Microsatellite (nonsense +1 more)	not provided	GUncertain significance
Select item 1051888	NM_003361.4(UMOD):c.1586A>G (p.His529Arg)	UMOD (H529R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011519	NM_003361.4(UMOD):c.1578-8C>A	UMOD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1210621	NM_003361.4(UMOD):c.1578-220G>A	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231561	NM_003361.4(UMOD):c.1578-279C>G	UMOD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707907	NM_003361.4(UMOD):c.1577+194del	UMOD	Deletion (intron variant)	not provided	GLikely benign
Select item 1234897	NM_003361.4(UMOD):c.1577+82dup	UMOD	Duplication (intron variant)	not provided	GBenign
Select item 1579783	NM_003361.4(UMOD):c.1577+20A>T	UMOD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1672532	NM_003361.4(UMOD):c.1577+12G>T	UMOD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602441	NM_003361.4(UMOD):c.1577+11G>A	UMOD	Single nucleotide variant (intron variant)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GBenign/Likely benign
Select item 3068258	NM_003361.4(UMOD):c.1561T>C (p.Phe521Leu)	UMOD (F521L +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 949668	NM_003361.4(UMOD):c.1546G>T (p.Asp516Tyr)	UMOD (D563Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2713986	NM_003361.4(UMOD):c.1545G>A (p.Thr515=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967968	NM_003361.4(UMOD):c.1544C>T (p.Thr515Met)	UMOD (T515M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 886470	NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys)	UMOD (Y507C +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 794572	NM_003361.4(UMOD):c.1506C>T (p.Leu502=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 318286	NM_003361.4(UMOD):c.1500A>G (p.Ala500=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GBenign/Likely benign
Select item 2325251	NM_003361.4(UMOD):c.1493G>A (p.Arg498Gln)	UMOD (R498Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2444082	NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)	UMOD (R498* +2 more)	Single nucleotide variant (nonsense +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GLikely pathogenic
Select item 318287	NM_003361.4(UMOD):c.1464C>T (p.Gly488=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +2 more	GBenign/Likely benign
Select item 437927	NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp)	UMOD (G488D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GLikely pathogenic
Select item 1505796	NM_003361.4(UMOD):c.1459G>A (p.Val487Met)	UMOD (V520M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2731780	NM_003361.4(UMOD):c.1458C>A (p.Tyr486Ter)	UMOD (Y486* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 318288	NM_003361.4(UMOD):c.1458C>T (p.Tyr486=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +3 more	GBenign/Likely benign
Select item 1371609	NM_003361.4(UMOD):c.1446G>A (p.Glu482=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2438476	NM_003361.4(UMOD):c.1445A>T (p.Glu482Val)	UMOD (E482V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 2813991	NM_003361.4(UMOD):c.1439C>A (p.Ser480Tyr)	UMOD (S480Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1088018	NM_003361.4(UMOD):c.1434A>G (p.Thr478=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2353098	NM_003361.4(UMOD):c.1429G>A (p.Val477Met)	UMOD (V477M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2883841	NM_003361.4(UMOD):c.1428C>T (p.Ser476=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796674	NM_003361.4(UMOD):c.1416C>T (p.Tyr472=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1422365	NM_003361.4(UMOD):c.1412C>G (p.Pro471Arg)	UMOD (P518R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2618044	NM_003361.4(UMOD):c.1409A>G (p.Gln470Arg)	UMOD (Q470R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2904912	NM_003361.4(UMOD):c.1407G>A (p.Thr469=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	UMOD-related condition +1 more	GLikely benign
Select item 198492	NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)	UMOD (T469M +2 more)	Single nucleotide variant (missense variant +1 more)	UMOD-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1358835	NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter)	UMOD (Q464* +2 more)	Single nucleotide variant (nonsense +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GUncertain significance
Select item 887718	NM_003361.4(UMOD):c.1383G>A (p.Ala461=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GLikely benign
Select item 1344662	NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)	UMOD (A461E +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GConflicting classifications of pathogenicity
Select item 418731	NM_003361.4(UMOD):c.1382C>T (p.Ala461Val)	UMOD (A461V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 762486	NM_003361.4(UMOD):c.1376G>A (p.Arg459Gln)	UMOD (R459Q +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GBenign

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