"Ambry Genetics"[submitter] AND "UBR1"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1533596	NM_174916.3(UBR1):c.5202C>G (p.Ser1734Arg)	UBR1 (S1734R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1491521	NM_174916.3(UBR1):c.5194G>T (p.Ala1732Ser)	UBR1 (A1732S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2185652	NM_174916.3(UBR1):c.5147G>A (p.Arg1716Gln)	UBR1 (R1716Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1365411	NM_174916.3(UBR1):c.4868A>G (p.His1623Arg)	UBR1 (H1623R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3330675	NM_174916.3(UBR1):c.4760A>T (p.Tyr1587Phe)	UBR1 (Y1587F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250979	NM_174916.3(UBR1):c.4736A>G (p.Lys1579Arg)	UBR1 (K1579R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402355	NM_174916.3(UBR1):c.4612A>C (p.Ser1538Arg)	UBR1 (S1538R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2229459	NM_174916.3(UBR1):c.4558C>T (p.Leu1520Phe)	UBR1 (L1520F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330673	NM_174916.3(UBR1):c.4529G>A (p.Arg1510His)	UBR1 (R1510H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256847	NM_174916.3(UBR1):c.4424C>G (p.Ser1475Cys)	UBR1 (S1475C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605573	NM_174916.3(UBR1):c.4391A>C (p.Gln1464Pro)	UBR1 (Q1464P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543699	NM_174916.3(UBR1):c.4273C>G (p.Gln1425Glu)	UBR1 (Q1425E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2221540	NM_174916.3(UBR1):c.4219-3T>C	UBR1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1397069	NM_174916.3(UBR1):c.3947G>A (p.Arg1316Gln)	UBR1 (R1316Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2329756	NM_174916.3(UBR1):c.3901A>G (p.Ile1301Val)	UBR1 (I1301V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621512	NM_174916.3(UBR1):c.3883A>G (p.Ile1295Val)	UBR1 (I1295V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985540	NM_174916.3(UBR1):c.3848+1G>T	UBR1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2276758	NM_174916.3(UBR1):c.3838G>A (p.Val1280Ile)	UBR1 (V1280I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492627	NM_174916.3(UBR1):c.3775A>G (p.Ile1259Val)	UBR1 (I1259V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2196535	NM_174916.3(UBR1):c.3710A>C (p.Gln1237Pro)	UBR1 (Q1237P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2206926	NM_174916.3(UBR1):c.3572A>G (p.Glu1191Gly)	UBR1 (E1191G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330678	NM_174916.3(UBR1):c.3493G>A (p.Ala1165Thr)	UBR1 (A1165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 284463	NM_174916.3(UBR1):c.3455A>G (p.Tyr1152Cys)	UBR1 (Y1152C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2280211	NM_174916.3(UBR1):c.3326T>C (p.Ile1109Thr)	UBR1 (I1109T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2231007	NM_174916.3(UBR1):c.3309A>C (p.Glu1103Asp)	UBR1 (E1103D)	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 3330674	NM_174916.3(UBR1):c.3179G>C (p.Gly1060Ala)	UBR1 (G1060A)	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 985549	NM_174916.3(UBR1):c.3055C>T (p.Arg1019Ter)	UBR1 (R1019*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2603505	NM_174916.3(UBR1):c.3013A>G (p.Ile1005Val)	UBR1 (I1005V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2411524	NM_174916.3(UBR1):c.2960G>A (p.Arg987Gln)	UBR1 (R987Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489559	NM_174916.3(UBR1):c.2923A>G (p.Ile975Val)	UBR1 (I975V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274913	NM_174916.3(UBR1):c.2859G>A (p.Met953Ile)	UBR1 (M953I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402264	NM_174916.3(UBR1):c.2842T>A (p.Leu948Met)	UBR1 (L948M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283397	NM_174916.3(UBR1):c.2690G>A (p.Arg897Gln)	UBR1 (R897Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1895928	NM_174916.3(UBR1):c.2603C>T (p.Pro868Leu)	UBR1 (P868L)	Single nucleotide variant (missense variant)	not provided +1 more	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 985539	NM_174916.3(UBR1):c.2260C>T (p.Arg754Cys)	UBR1 (R754C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2228721	NM_174916.3(UBR1):c.2236G>A (p.Val746Ile)	UBR1 (V746I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2289331	NM_174916.3(UBR1):c.1911T>A (p.Phe637Leu)	UBR1 (F637L)	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 2329974	NM_174916.3(UBR1):c.1877G>T (p.Gly626Val)	UBR1 (G626V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063048	NM_174916.3(UBR1):c.1861C>T (p.Arg621Cys)	UBR1 (R621C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3330677	NM_174916.3(UBR1):c.1508G>T (p.Arg503Leu)	UBR1 (R503L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243689	NM_174916.3(UBR1):c.1496T>G (p.Leu499Arg)	UBR1 (L499R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495639	NM_174916.3(UBR1):c.1367A>G (p.Asn456Ser)	UBR1 (N456S)	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 2472854	NM_174916.3(UBR1):c.1100G>A (p.Arg367His)	UBR1 (R367H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315279	NM_174916.3(UBR1):c.1054A>G (p.Ile352Val)	UBR1 (I352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029286	NM_174916.3(UBR1):c.947G>A (p.Arg316His)	UBR1 (R316H)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome +1 more	GUncertain significance
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 2239749	NM_174916.3(UBR1):c.860A>G (p.Lys287Arg)	UBR1 (K287R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270037	NM_174916.3(UBR1):c.803G>A (p.Arg268His)	UBR1 (R268H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1427381	NM_174916.3(UBR1):c.760G>A (p.Ala254Thr)	LOC130056935, UBR1 (A254T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2496286	NM_174916.3(UBR1):c.751T>A (p.Cys251Ser)	UBR1 (C251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2892530	NM_174916.3(UBR1):c.599A>T (p.Tyr200Phe)	UBR1 (Y200F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2213546	NM_174916.3(UBR1):c.535C>T (p.Arg179Cys)	UBR1 (R179C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330676	NM_174916.3(UBR1):c.520A>G (p.Ile174Val)	UBR1 (I174V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507972	NM_174916.3(UBR1):c.495T>A (p.Asn165Lys)	UBR1 (N165K)	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 2262994	NM_174916.3(UBR1):c.85T>C (p.Trp29Arg)	UBR1 (W29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488996	NM_174916.3(UBR1):c.35T>G (p.Met12Arg)	LOC130056936, UBR1 (M12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614021	NM_174916.3(UBR1):c.17C>T (p.Ala6Val)	LOC130056936, UBR1 (A6V)	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

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Items: 69