ClinVar for Gene (Select 197131) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243928	NC_000015.9:g.(?_43258452)_(43295241_?)del	UBR1	Deletion	not provided	GLikely pathogenic
Select item 3243927	NC_000015.9:g.(?_43307866)_(43320046_?)dup	UBR1	Duplication	not provided	GLikely pathogenic
Select item 3243926	NC_000015.9:g.(?_43299257)_(43299502_?)dup	UBR1	Duplication	not provided	GPathogenic
Select item 3243925	NC_000015.9:g.(?_43237527)_(43367307_?)del	UBR1	Deletion	not provided	GPathogenic
Select item 3243924	NC_000015.9:g.(?_43294733)_(43299502_?)del	UBR1	Deletion	not provided	GPathogenic
Select item 3243923	NC_000015.9:g.(?_43313453)_(43340709_?)del	UBR1	Deletion	not provided	GPathogenic
Select item 3243922	NC_000015.9:g.(?_43282208)_(43398220_?)del	UBR1	Deletion	not provided	GPathogenic
Select item 3243920	NC_000015.9:g.(?_43335393)_(43398220_?)del	UBR1	Deletion	not provided	GPathogenic
Select item 3243919	NC_000015.9:g.(?_43299257)_(43299502_?)del	UBR1	Deletion	not provided	GPathogenic
Select item 3185755	NM_174916.3(UBR1):c.912C>G (p.His304Gln)	UBR1 (H304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185753	NM_174916.3(UBR1):c.580T>C (p.Phe194Leu)	UBR1 (F194L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185752	NM_174916.3(UBR1):c.5059T>C (p.Tyr1687His)	UBR1 (Y1687H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185751	NM_174916.3(UBR1):c.4255G>C (p.Asp1419His)	UBR1 (D1419H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185750	NM_174916.3(UBR1):c.424A>G (p.Thr142Ala)	UBR1 (T142A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185749	NM_174916.3(UBR1):c.3225T>G (p.Ser1075Arg)	UBR1 (S1075R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185748	NM_174916.3(UBR1):c.3115G>A (p.Ala1039Thr)	UBR1 (A1039T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185747	NM_174916.3(UBR1):c.2591C>T (p.Pro864Leu)	UBR1 (P864L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185746	NM_174916.3(UBR1):c.1909T>G (p.Phe637Val)	UBR1 (F637V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185745	NM_174916.3(UBR1):c.16G>T (p.Ala6Ser)	LOC130056936, UBR1 (A6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185744	NM_174916.3(UBR1):c.1169T>C (p.Met390Thr)	UBR1 (M390T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185743	NM_174916.3(UBR1):c.1113T>G (p.His371Gln)	UBR1 (H371Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076002	NM_174916.3(UBR1):c.2840-1G>A	UBR1	Single nucleotide variant (splice acceptor variant)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3057269	NM_174916.3(UBR1):c.2941-9_2941-5del	UBR1	Deletion (intron variant)	UBR1-related disorder	GLikely benign
Select item 3030132	NM_174916.3(UBR1):c.2853A>G (p.Ser951=)	UBR1	Single nucleotide variant (synonymous variant)	UBR1-related disorder	GLikely benign
Select item 3023932	NM_174916.3(UBR1):c.1873C>T (p.Leu625=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023223	NM_174916.3(UBR1):c.82-11T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023176	NM_174916.3(UBR1):c.3509+12T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022607	NM_174916.3(UBR1):c.4479T>G (p.Pro1493=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022364	NM_174916.3(UBR1):c.2585-19C>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022223	NM_174916.3(UBR1):c.3509+11C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021849	NM_174916.3(UBR1):c.2721C>T (p.Thr907=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021794	NM_174916.3(UBR1):c.1932A>G (p.Val644=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020634	NM_174916.3(UBR1):c.2055A>G (p.Glu685=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020573	NM_174916.3(UBR1):c.659+20G>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020383	NM_174916.3(UBR1):c.1439+11del	UBR1	Deletion (intron variant)	not provided	GLikely benign
Select item 3020336	NM_174916.3(UBR1):c.3849-11T>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019991	NM_174916.3(UBR1):c.1971C>A (p.Ala657=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019568	NM_174916.3(UBR1):c.1405T>C (p.Leu469=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019392	NM_174916.3(UBR1):c.3758-2A>T	UBR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3019027	NM_174916.3(UBR1):c.5115C>T (p.Gly1705=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017554	NM_174916.3(UBR1):c.4006T>C (p.Leu1336=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3017059	NM_174916.3(UBR1):c.4758-5T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016751	NM_174916.3(UBR1):c.5019C>T (p.Cys1673=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016623	NM_174916.3(UBR1):c.3921A>G (p.Lys1307=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015516	NM_174916.3(UBR1):c.4758-6T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015252	NM_174916.3(UBR1):c.3036T>C (p.His1012=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014886	NM_174916.3(UBR1):c.4557A>G (p.Leu1519=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012347	NM_174916.3(UBR1):c.2941-10T>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012257	NM_174916.3(UBR1):c.4458-5C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011525	NM_174916.3(UBR1):c.529-14C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011331	NM_174916.3(UBR1):c.4219-4A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011202	NM_174916.3(UBR1):c.4457+17T>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010902	NM_174916.3(UBR1):c.2280A>G (p.Gly760=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010549	NM_174916.3(UBR1):c.3273T>G (p.Thr1091=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010475	NM_174916.3(UBR1):c.3837C>T (p.Gly1279=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010029	NM_174916.3(UBR1):c.1850-15T>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009856	NM_174916.3(UBR1):c.1539+17G>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009667	NM_174916.3(UBR1):c.4219-15A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009096	NM_174916.3(UBR1):c.3483T>C (p.His1161=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008915	NM_174916.3(UBR1):c.441G>A (p.Gly147=)	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 3008499	NM_174916.3(UBR1):c.4458-13T>C	UBR1	Single nucleotide variant (intron 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 3008028	NM_174916.3(UBR1):c.4572G>A (p.Pro1524=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007340	NM_174916.3(UBR1):c.2536-5T>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006385	NM_174916.3(UBR1):c.4212T>C (p.His1404=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006313	NM_174916.3(UBR1):c.1935A>G (p.Leu645=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006124	NM_174916.3(UBR1):c.2940+12A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005616	NM_174916.3(UBR1):c.1669-17T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005614	NM_174916.3(UBR1):c.1911+15T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005010	NM_174916.3(UBR1):c.1377C>T (p.Phe459=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3004732	NM_174916.3(UBR1):c.2928G>C (p.Thr976=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004346	NM_174916.3(UBR1):c.2191-10G>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003949	NM_174916.3(UBR1):c.1971C>T (p.Ala657=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003754	NM_174916.3(UBR1):c.986-13C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003290	NM_174916.3(UBR1):c.186G>A (p.Gln62=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003008	NM_174916.3(UBR1):c.3028-7T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002884	NM_174916.3(UBR1):c.78A>G (p.Ala26=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002616	NM_174916.3(UBR1):c.57C>G (p.Pro19=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002479	NM_174916.3(UBR1):c.986-18_986-12dup	UBR1	Duplication (intron variant)	not provided	GLikely benign
Select item 3002255	NM_174916.3(UBR1):c.3849-13G>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002093	NM_174916.3(UBR1):c.1183-10T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001927	NM_174916.3(UBR1):c.339-19G>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001911	NM_174916.3(UBR1):c.3510-16C>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001642	NM_174916.3(UBR1):c.1764G>C (p.Ser588=)	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 3001298	NM_174916.3(UBR1):c.4710A>C (p.Ala1570=)	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 3000814	NM_174916.3(UBR1):c.1094-6C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000698	NM_174916.3(UBR1):c.720C>T (p.His240=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000645	NM_174916.3(UBR1):c.2022+14T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999399	NM_174916.3(UBR1):c.2089-4A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998944	NM_174916.3(UBR1):c.2394T>C (p.Thr798=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997161	NM_174916.3(UBR1):c.4419A>G (p.Ala1473=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996671	NM_174916.3(UBR1):c.2432+19T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996635	NM_174916.3(UBR1):c.4104C>G (p.Thr1368=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996634	NM_174916.3(UBR1):c.4592-16T>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996458	NM_174916.3(UBR1):c.849G>A (p.Lys283=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996308	NM_174916.3(UBR1):c.2022+9A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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