UBR5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 57125	GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3	ATP6V1C1, AZIN1 +92 more	Copy number gain	See cases	GPathogenic
Select item 3185873	NM_015902.6(UBR5):c.8347C>A (p.Leu2783Ile)	UBR5 (L2782I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658719	NM_015902.6(UBR5):c.8211A>G (p.Pro2737=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3346774	NM_015902.6(UBR5):c.8084del (p.Ser2695fs)	UBR5 (S2694fs +1 more)	Deletion (frameshift variant)	UBR5-related disorder	GUncertain significance
Select item 2320613	NM_015902.6(UBR5):c.8057A>G (p.Asn2686Ser)	UBR5 (N2685S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034745	NM_015902.6(UBR5):c.8013G>A (p.Thr2671=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GLikely benign
Select item 2658720	NM_015902.6(UBR5):c.7914C>T (p.Tyr2638=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617778	NM_015902.6(UBR5):c.7801G>T (p.Ala2601Ser)	UBR5 (A2600S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658721	NM_015902.6(UBR5):c.7689C>G (p.Val2563=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060589	NM_015902.6(UBR5):c.7635A>C (p.Leu2545=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GBenign
Select item 2404760	NM_015902.6(UBR5):c.7501A>T (p.Asn2501Tyr)	UBR5 (N2500Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633389	NM_015902.6(UBR5):c.7462G>T (p.Val2488Leu)	UBR5 (V2487L +1 more)	Single nucleotide variant (missense variant)	UBR5-related disorder	GUncertain significance
Select item 2480500	NM_015902.6(UBR5):c.7222A>G (p.Met2408Val)	UBR5 (M2408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055803	NM_015902.6(UBR5):c.7086-7C>A	UBR5	Single nucleotide variant (intron variant)	UBR5-related disorder	GBenign
Select item 3033893	NM_015902.6(UBR5):c.6974-3T>C	UBR5	Single nucleotide variant (intron variant)	UBR5-related disorder	GLikely benign
Select item 3040914	NM_015902.6(UBR5):c.6906A>G (p.Ala2302=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GLikely benign
Select item 2616209	NM_015902.6(UBR5):c.6649G>C (p.Gly2217Arg)	UBR5 (G2217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658722	NM_015902.6(UBR5):c.6634C>T (p.Leu2212=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343933	NM_015902.6(UBR5):c.6631A>G (p.Ile2211Val)	UBR5 (I2211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658723	NM_015902.6(UBR5):c.6627A>T (p.Gly2209=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551958	NM_015902.6(UBR5):c.6602T>C (p.Met2201Thr)	UBR5 (M2201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560246	NM_015902.6(UBR5):c.6590G>C (p.Gly2197Ala)	UBR5 (G2197A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658724	NM_015902.6(UBR5):c.6588C>T (p.Phe2196=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219424	NM_015902.6(UBR5):c.6503C>T (p.Ser2168Phe)	UBR5 (S2168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050283	NM_015902.6(UBR5):c.6453C>T (p.Ser2151=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GLikely benign
Select item 3029632	NM_015902.6(UBR5):c.6341T>C (p.Met2114Thr)	UBR5 (M2114T)	Single nucleotide variant (missense variant)	UBR5-related disorder	GUncertain significance
Select item 2292420	NM_015902.6(UBR5):c.6334A>G (p.Met2112Val)	UBR5 (M2112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284678	NM_015902.6(UBR5):c.6320A>C (p.Asn2107Thr)	UBR5 (N2107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358245	NM_015902.6(UBR5):c.6262G>T (p.Val2088Phe)	UBR5 (V2088F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235554	NM_015902.6(UBR5):c.6206G>A (p.Arg2069His)	UBR5 (R2069H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034178	NM_015902.6(UBR5):c.6031T>C (p.Ser2011Pro)	UBR5 (S2011P)	Single nucleotide variant (missense variant)	UBR5-related disorder	GLikely benign
Select item 3033039	NM_015902.6(UBR5):c.5927+7A>G	UBR5	Single nucleotide variant (intron variant)	UBR5-related disorder	GLikely benign
Select item 2379159	NM_015902.6(UBR5):c.5920C>T (p.Arg1974Cys)	UBR5 (R1974C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212861	NM_015902.6(UBR5):c.5908C>T (p.Pro1970Ser)	UBR5 (P1970S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242570	NM_015902.5:c.5837A>G	UBR5 (H1946R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2241995	NM_015902.6(UBR5):c.5716G>A (p.Ala1906Thr)	UBR5 (A1906T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299116	NM_015902.6(UBR5):c.5710C>G (p.Leu1904Val)	UBR5 (L1904V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479230	NM_015902.6(UBR5):c.5678G>A (p.Arg1893Gln)	UBR5 (R1893Q)	Single nucleotide variant (missense variant)	UBR5-related disorder +1 more	GUncertain significance
Select item 2264129	NM_015902.6(UBR5):c.5636C>T (p.Ala1879Val)	UBR5 (A1879V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058625	NM_015902.6(UBR5):c.5484+9C>G	UBR5	Single nucleotide variant (intron variant)	UBR5-related disorder	GLikely benign
Select item 2548300	NM_015902.6(UBR5):c.5386T>A (p.Ser1796Thr)	UBR5 (S1796T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330721	NM_015902.6(UBR5):c.5320G>A (p.Ala1774Thr)	UBR5 (A1774T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048606	NM_015902.6(UBR5):c.5313T>A (p.Ala1771=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GLikely benign
Select item 3185872	NM_015902.6(UBR5):c.5272A>G (p.Ile1758Val)	UBR5 (I1758V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284395	NM_015902.6(UBR5):c.5180C>T (p.Ala1727Val)	UBR5 (A1727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593509	NM_015902.6(UBR5):c.5127A>C (p.Gln1709His)	UBR5 (Q1709H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563332	NM_015902.6(UBR5):c.5114A>G (p.Asn1705Ser)	UBR5 (N1705S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582461	NM_015902.6(UBR5):c.4922G>A (p.Ser1641Asn)	UBR5 (S1641N)	Single nucleotide variant (missense variant)	UBR5-related disorder	GUncertain significance
Select item 3252051	NM_015902.6(UBR5):c.4791G>T (p.Glu1597Asp)	UBR5 (E1597D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2381787	NM_015902.6(UBR5):c.4767A>C (p.Glu1589Asp)	UBR5 (E1589D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538190	NM_015902.6(UBR5):c.4660G>A (p.Val1554Ile)	UBR5 (V1554I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055003	NM_015902.6(UBR5):c.4572A>C (p.Ser1524=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GLikely benign
Select item 2658725	NM_015902.6(UBR5):c.4557A>G (p.Leu1519=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264023	NM_015902.6(UBR5):c.4552C>A (p.Pro1518Thr)	UBR5 (P1518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331138	NM_015902.6(UBR5):c.4463T>C (p.Met1488Thr)	UBR5 (M1488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029003	NM_015902.6(UBR5):c.4404A>G (p.Leu1468=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GLikely benign
Select item 1287906	NM_015902.6(UBR5):c.4056C>T (p.Asp1352=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3330727	NM_015902.6(UBR5):c.4031T>C (p.Met1344Thr)	UBR5 (M1344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059992	NM_015902.6(UBR5):c.3957A>G (p.Leu1319=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GBenign
Select item 2658726	NM_015902.6(UBR5):c.3933T>C (p.Asp1311=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185870	NM_015902.6(UBR5):c.3892A>G (p.Ile1298Val)	UBR5 (I1298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185869	NM_015902.6(UBR5):c.3833T>A (p.Phe1278Tyr)	UBR5 (F1278Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717909	NM_015902.6(UBR5):c.3819G>A (p.Glu1273=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658727	NM_015902.6(UBR5):c.3813-4G>T	UBR5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 242569	NM_015902.5:c.3752G>A	UBR5 (R1251H)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2637311	NM_015902.6(UBR5):c.3740A>T (p.Gln1247Leu)	UBR5 (Q1247L)	Single nucleotide variant (missense variant)	UBR5-related disorder	GUncertain significance
Select item 712567	NM_015902.6(UBR5):c.3693C>T (p.Tyr1231=)	UBR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038128	NM_015902.6(UBR5):c.3249G>A (p.Ala1083=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GBenign
Select item 2559637	NM_015902.6(UBR5):c.3190T>A (p.Ser1064Thr)	UBR5 (S1064T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230868	NM_015902.6(UBR5):c.3163A>G (p.Thr1055Ala)	UBR5 (T1055A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629092	NM_015902.6(UBR5):c.2981G>A (p.Arg994His)	UBR5 (R994H)	Single nucleotide variant (missense variant)	UBR5-related disorder	GUncertain significance
Select item 207958	NM_015902.6(UBR5):c.2965C>T (p.Arg989Trp)	UBR5 (R989W)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3185868	NM_015902.6(UBR5):c.2840C>T (p.Ser947Phe)	UBR5 (S947F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463095	NM_015902.6(UBR5):c.2737A>G (p.Ser913Gly)	UBR5 (S913G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185867	NM_015902.6(UBR5):c.2723T>C (p.Leu908Pro)	UBR5 (L908P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330726	NM_015902.6(UBR5):c.2720T>A (p.Met907Lys)	UBR5 (M907K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055254	NM_015902.6(UBR5):c.2667A>T (p.Arg889=)	UBR5	Single nucleotide variant (synonymous variant)	UBR5-related disorder	GLikely benign
Select item 3185866	NM_015902.6(UBR5):c.2434C>G (p.Leu812Val)	UBR5 (L812V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045618	NM_015902.6(UBR5):c.2418+4G>A	UBR5	Single nucleotide variant (intron variant)	UBR5-related disorder	GLikely benign
Select item 2302736	NM_015902.6(UBR5):c.2340G>C (p.Gln780His)	UBR5 (Q780H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484194	NM_015902.6(UBR5):c.2324C>T (p.Thr775Ile)	UBR5 (T775I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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