ClinVar for Gene (Select 197131) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GLikely benign
Select item 3030132	NM_174916.3(UBR1):c.2853A>G (p.Ser951=)	UBR1	Single nucleotide variant (synonymous variant)	UBR1-related condition	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
Select item 2995989	NM_174916.3(UBR1):c.81+14G>A	LOC130056936, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995757	NM_174916.3(UBR1):c.2739+18A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995528	NM_174916.3(UBR1):c.2088+10dup	UBR1	Duplication (intron variant)	not provided	GLikely benign
Select item 2995473	NM_174916.3(UBR1):c.3285G>T (p.Val1095=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994840	NM_174916.3(UBR1):c.2941-8T>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994595	NM_174916.3(UBR1):c.63C>T (p.Thr21=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994177	NM_174916.3(UBR1):c.418-5A>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993084	NM_174916.3(UBR1):c.1944T>C (p.Tyr648=)	UBR1	Single nucleotide variant (synonymous 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 2991432	NM_174916.3(UBR1):c.651C>T (p.Leu217=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991233	NM_174916.3(UBR1):c.888T>C (p.His296=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990859	NM_174916.3(UBR1):c.4044A>T (p.Gln1348His)	UBR1 (Q1348H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2990551	NM_174916.3(UBR1):c.418-9C>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990173	NM_174916.3(UBR1):c.2254+14A>G	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990041	NM_174916.3(UBR1):c.1281+16T>A	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990040	NM_174916.3(UBR1):c.4641T>C (p.Pro1547=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2990002	NM_174916.3(UBR1):c.3606T>G (p.Ser1202=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989858	NM_174916.3(UBR1):c.3315G>A (p.Gln1105=)	UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989576	NM_174916.3(UBR1):c.3210-16T>C	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989342	NM_174916.3(UBR1):c.2536-13G>T	UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989151	NM_174916.3(UBR1):c.1228A>T (p.Arg410Ter)	UBR1 (R410*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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