UBR1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1008

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 1226855	NM_174916.3(UBR1):c.*324A>G	UBR1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1281511	NM_174916.3(UBR1):c.*113G>A	UBR1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2897452	NM_174916.3(UBR1):c.5247G>A (p.Leu1749=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985208	NM_174916.3(UBR1):c.5221T>C (p.Leu1741=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377024	NM_174916.3(UBR1):c.5220G>T (p.Met1740Ile)	UBR1 (M1740I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810158	NM_174916.3(UBR1):c.5214T>C (p.Asn1738=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873641	NM_174916.3(UBR1):c.5208G>A (p.Glu1736=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 262897	NM_174916.3(UBR1):c.5205A>G (p.Gln1735=)	UBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1533596	NM_174916.3(UBR1):c.5202C>G (p.Ser1734Arg)	UBR1 (S1734R)	Single nucleotide variant (missense variant)	UBR1-related condition +1 more	GLikely benign
Select item 1491521	NM_174916.3(UBR1):c.5194G>T (p.Ala1732Ser)	UBR1 (A1732S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2880193	NM_174916.3(UBR1):c.5187A>G (p.Glu1729=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322257	NM_174916.3(UBR1):c.5183T>C (p.Ile1728Thr)	UBR1 (I1728T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2747731	NM_174916.3(UBR1):c.5178C>T (p.Cys1726=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185652	NM_174916.3(UBR1):c.5147G>A (p.Arg1716Gln)	UBR1 (R1716Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2987280	NM_174916.3(UBR1):c.5145T>C (p.Tyr1715=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880496	NM_174916.3(UBR1):c.5136T>G (p.Arg1712=)	UBR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 721627	NM_174916.3(UBR1):c.5135G>A (p.Arg1712His)	UBR1 (R1712H)	Single nucleotide variant (missense variant)	UBR1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2790071	NM_174916.3(UBR1):c.5133T>C (p.Ser1711=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983244	NM_174916.3(UBR1):c.5130A>G (p.Leu1710=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460574	NM_174916.3(UBR1):c.5128T>G (p.Leu1710Val)	UBR1 (L1710V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019027	NM_174916.3(UBR1):c.5115C>T (p.Gly1705=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050533	NM_174916.3(UBR1):c.5113G>A (p.Gly1705Ser)	UBR1 (G1705S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985934	NM_174916.3(UBR1):c.5109-4A>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725789	NM_174916.3(UBR1):c.5109-8C>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845986	NM_174916.3(UBR1):c.5109-9del	UBR1	Deletion (intron variant)	not provided	GBenign
Select item 2770113	NM_174916.3(UBR1):c.5109-13T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845988	NM_174916.3(UBR1):c.5109-15C>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228868	NM_174916.3(UBR1):c.5109-155_5109-146del	UBR1	Deletion (intron variant)	not provided	GBenign
Select item 1259392	NM_174916.3(UBR1):c.5108+192G>A	UBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238719	NM_174916.3(UBR1):c.5108+191C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2785896	NM_174916.3(UBR1):c.5108+17A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969847	NM_174916.3(UBR1):c.5108+14dup	UBR1	Duplication (intron variant)	not provided	GBenign
Select item 2956412	NM_174916.3(UBR1):c.5108+14T>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831463	NM_174916.3(UBR1):c.5103C>A (p.Gly1701=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706481	NM_174916.3(UBR1):c.5103C>G (p.Gly1701=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008255	NM_174916.3(UBR1):c.5100T>C (p.Pro1700=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795742	NM_174916.3(UBR1):c.5094A>T (p.Thr1698=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413168	NM_174916.3(UBR1):c.5092A>G (p.Thr1698Ala)	UBR1 (T1698A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901836	NM_174916.3(UBR1):c.5064A>G (p.Pro1688=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419904	NM_174916.3(UBR1):c.5062C>T (p.Pro1688Ser)	UBR1 (P1688S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803440	NM_174916.3(UBR1):c.5061T>C (p.Tyr1687=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829331	NM_174916.3(UBR1):c.5052C>T (p.Gly1684=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796510	NM_174916.3(UBR1):c.5046C>T (p.Ala1682=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890671	NM_174916.3(UBR1):c.5034T>C (p.Val1678=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794830	NM_174916.3(UBR1):c.5031G>A (p.Leu1677=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008599	NM_174916.3(UBR1):c.5028C>T (p.Val1676=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038177	NM_174916.3(UBR1):c.5021G>A (p.Arg1674Gln)	UBR1 (R1674Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983873	NM_174916.3(UBR1):c.5020C>T (p.Arg1674Ter)	UBR1 (R1674*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3016751	NM_174916.3(UBR1):c.5019C>T (p.Cys1673=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 915405	NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)	UBR1 (C1673W)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 1409633	NM_174916.3(UBR1):c.5007dup (p.Ile1670fs)	UBR1 (I1670fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2772297	NM_174916.3(UBR1):c.5007-7C>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764417	NM_174916.3(UBR1):c.5007-7C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882295	NM_174916.3(UBR1):c.5007-10dup	UBR1	Duplication (intron variant)	not provided	GBenign
Select item 2872830	NM_174916.3(UBR1):c.5007-17T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986898	NM_174916.3(UBR1):c.5007-18A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795131	NM_174916.3(UBR1):c.5007-20C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833582	NM_174916.3(UBR1):c.5006+17C>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992642	NM_174916.3(UBR1):c.5004A>T (p.Leu1668=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966626	NM_174916.3(UBR1):c.5002C>T (p.Leu1668=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2984074	NM_174916.3(UBR1):c.4986C>A (p.Ala1662=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905559	NM_174916.3(UBR1):c.4986C>T (p.Ala1662=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877991	NM_174916.3(UBR1):c.4983A>T (p.Gly1661=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071455	NM_174916.3(UBR1):c.4972C>T (p.Leu1658Phe)	UBR1 (L1658F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914154	NM_174916.3(UBR1):c.4970C>T (p.Ala1657Val)	UBR1 (A1657V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619017	NM_174916.3(UBR1):c.4968C>T (p.His1656=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820385	NM_174916.3(UBR1):c.4965T>C (p.Phe1655=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001299	NM_174916.3(UBR1):c.4950T>C (p.Val1650=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516795	NM_174916.3(UBR1):c.4946A>G (p.Glu1649Gly)	UBR1 (E1649G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958656	NM_174916.3(UBR1):c.4944A>G (p.Glu1648=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792673	NM_174916.3(UBR1):c.4941G>A (p.Gly1647=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777454	NM_174916.3(UBR1):c.4938C>T (p.Asn1646=)	UBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2882567	NM_174916.3(UBR1):c.4926G>A (p.Gln1642=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408468	NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val)	UBR1 (A1632V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2974235	NM_174916.3(UBR1):c.4884T>G (p.Leu1628=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817237	NM_174916.3(UBR1):c.4875C>G (p.Val1625=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759623	NM_174916.3(UBR1):c.4875C>T (p.Val1625=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365411	NM_174916.3(UBR1):c.4868A>G (p.His1623Arg)	UBR1 (H1623R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724528	NM_174916.3(UBR1):c.4860G>A (p.Glu1620=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645262	NM_174916.3(UBR1):c.4851A>C (p.Ala1617=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416460	NM_174916.3(UBR1):c.4847C>T (p.Ser1616Phe)	UBR1 (S1616F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857638	NM_174916.3(UBR1):c.4836-7T>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790300	NM_174916.3(UBR1):c.4836-8C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800783	NM_174916.3(UBR1):c.4836-12T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180324	NM_174916.3(UBR1):c.4836-53T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2852699	NM_174916.3(UBR1):c.4835+19T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967194	NM_174916.3(UBR1):c.4835+12G>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863940	NM_174916.3(UBR1):c.4835+12G>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827157	NM_174916.3(UBR1):c.4835+11T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893040	NM_174916.3(UBR1):c.4835+8G>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 437196	NM_174916.3(UBR1):c.4834A>G (p.Arg1612Gly)	UBR1 (R1612G)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2772690	NM_174916.3(UBR1):c.4830T>C (p.His1610=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839473	NM_174916.3(UBR1):c.4812C>G (p.Leu1604=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 262896	NM_174916.3(UBR1):c.4803T>C (p.Tyr1601=)	UBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2864714	NM_174916.3(UBR1):c.4776T>C (p.Asn1592=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001295	NM_174916.3(UBR1):c.4761C>T (p.Tyr1587=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841783	NM_174916.3(UBR1):c.4758-4G>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017059	NM_174916.3(UBR1):c.4758-5T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 11