UBR4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 546592	NM_020765.3(UBR4):c.15547C>A (p.Pro5183Thr)	UBR4 (P5183T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 546593	NM_020765.3(UBR4):c.15511C>G (p.Pro5171Ala)	UBR4 (P5171A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 743750	NM_020765.3(UBR4):c.15507C>T (p.Thr5169=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GLikely benign
Select item 2556570	NM_020765.3(UBR4):c.15434T>C (p.Phe5145Ser)	UBR4 (F5145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490518	NM_020765.3(UBR4):c.15424C>G (p.Leu5142Val)	UBR4 (L5142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185824	NM_020765.3(UBR4):c.15400A>G (p.Ile5134Val)	UBR4 (I5134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038747	NM_020765.3(UBR4):c.15369C>T (p.Leu5123=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 2376008	NM_020765.3(UBR4):c.15344C>T (p.Thr5115Ile)	UBR4 (T5115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259901	NM_020765.3(UBR4):c.15337A>G (p.Ser5113Gly)	UBR4 (S5113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526399	NM_020765.3(UBR4):c.15331C>T (p.Pro5111Ser)	UBR4 (P5111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050405	NM_020765.3(UBR4):c.15325-4G>T	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder	GBenign
Select item 156527	NM_020765.3(UBR4):c.15272G>A (p.Arg5091His)	UBR4 (R5091H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2320452	NM_020765.3(UBR4):c.15266C>T (p.Ala5089Val)	UBR4 (A5089V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472933	NM_020765.3(UBR4):c.15265G>A (p.Ala5089Thr)	UBR4 (A5089T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752812	NM_020765.3(UBR4):c.15264C>T (p.Ser5088=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777888	NM_020765.3(UBR4):c.15234-9C>G	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 741319	NM_020765.3(UBR4):c.15233+8C>T	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2492471	NM_020765.3(UBR4):c.15208G>A (p.Ala5070Thr)	LOC126805640, UBR4 (A5070T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296445	NM_020765.3(UBR4):c.15206G>A (p.Arg5069Gln)	LOC126805640, UBR4 (R5069Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185822	NM_020765.3(UBR4):c.15179G>A (p.Arg5060Gln)	LOC126805640, UBR4 (R5060Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564392	NM_020765.3(UBR4):c.15170A>C (p.Glu5057Ala)	LOC126805640, UBR4 (E5057A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356149	NM_020765.3(UBR4):c.15170A>G (p.Glu5057Gly)	LOC126805640, UBR4 (E5057G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185821	NM_020765.3(UBR4):c.15163C>T (p.Arg5055Cys)	LOC126805640, UBR4 (R5055C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223772	NM_020765.3(UBR4):c.15160A>G (p.Thr5054Ala)	LOC126805640, UBR4 (T5054A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638409	NM_020765.3(UBR4):c.15062C>T (p.Pro5021Leu)	LOC126805640, UBR4 (P5021L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638410	NM_020765.3(UBR4):c.15009-174G>A	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638411	NM_020765.3(UBR4):c.15009-175C>T	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696721	NM_020765.3(UBR4):c.14998G>A (p.Val5000Ile)	UBR4 (V5000I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035405	NM_020765.3(UBR4):c.14997C>T (p.Tyr4999=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 3035836	NM_020765.3(UBR4):c.14973G>A (p.Pro4991=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 714635	NM_020765.3(UBR4):c.14925C>T (p.Ser4975=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3057938	NM_020765.3(UBR4):c.14904C>T (p.Phe4968=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 3060751	NM_020765.3(UBR4):c.14877T>C (p.His4959=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 3185820	NM_020765.3(UBR4):c.14854C>G (p.Pro4952Ala)	UBR4 (P4952A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302413	NM_020765.3(UBR4):c.14816A>G (p.His4939Arg)	UBR4 (H4939R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058010	NM_020765.3(UBR4):c.14721C>T (p.Ala4907=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 2610732	NM_020765.3(UBR4):c.14615G>A (p.Arg4872Gln)	UBR4 (R4872Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185819	NM_020765.3(UBR4):c.14606A>G (p.Asn4869Ser)	UBR4 (N4869S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059029	NM_020765.3(UBR4):c.14599A>T (p.Met4867Leu)	UBR4 (M4867L)	Single nucleotide variant (missense variant)	UBR4-related disorder	GBenign
Select item 3057722	NM_020765.3(UBR4):c.14545-10G>A	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder	GLikely benign
Select item 3185818	NM_020765.3(UBR4):c.14536A>C (p.Lys4846Gln)	LOC129929563, UBR4 (K4846Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638412	NM_020765.3(UBR4):c.14493C>T (p.Ile4831=)	LOC129929563, UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185817	NM_020765.3(UBR4):c.14429C>T (p.Thr4810Met)	UBR4 (T4810M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334332	NM_020765.3(UBR4):c.14379G>A (p.Lys4793=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3185816	NM_020765.3(UBR4):c.14347G>A (p.Ala4783Thr)	UBR4 (A4783T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185815	NM_020765.3(UBR4):c.14328C>A (p.Asp4776Glu)	UBR4 (D4776E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037296	NM_020765.3(UBR4):c.14244G>A (p.Leu4748=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 599551	NM_020765.3(UBR4):c.14237C>T (p.Pro4746Leu)	UBR4 (P4746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386407	NM_020765.3(UBR4):c.14122G>A (p.Asp4708Asn)	UBR4 (D4708N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790332	NM_020765.3(UBR4):c.14112-4G>C	UBR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726402	NM_020765.3(UBR4):c.14111+8G>C	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 2494741	NM_020765.3(UBR4):c.13970T>G (p.Val4657Gly)	UBR4 (V4657G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467223	NM_020765.3(UBR4):c.13934A>T (p.Asp4645Val)	UBR4 (D4645V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599553	NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)	UBR4 (P4610T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234489	NM_020765.3(UBR4):c.13725T>C (p.Ala4575=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246409	NM_020765.3(UBR4):c.13630C>G (p.Leu4544Val)	UBR4 (L4544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638413	NM_020765.3(UBR4):c.13602C>T (p.Asn4534=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353542	NM_020765.3(UBR4):c.13565G>A (p.Arg4522Gln)	UBR4 (R4522Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736671	NM_020765.3(UBR4):c.13482G>A (p.Gly4494=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592852	NM_020765.3(UBR4):c.13412A>T (p.Glu4471Val)	UBR4 (E4471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320612	NM_020765.3(UBR4):c.13391A>G (p.Asp4464Gly)	UBR4 (D4464G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690411	NM_020765.3(UBR4):c.13391-1G>A	UBR4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3185814	NM_020765.3(UBR4):c.13289G>A (p.Cys4430Tyr)	UBR4 (C4430Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731018	NM_020765.3(UBR4):c.13023+8del	UBR4	Deletion (intron variant)	not provided	GLikely benign
Select item 720983	NM_020765.3(UBR4):c.12948A>G (p.Thr4316=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712825	NM_020765.3(UBR4):c.12831G>C (p.Val4277=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign
Select item 784934	NM_020765.3(UBR4):c.12795T>C (p.Thr4265=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3185813	NM_020765.3(UBR4):c.12707A>G (p.Tyr4236Cys)	UBR4 (Y4236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492343	NM_020765.3(UBR4):c.12634C>G (p.Leu4212Val)	UBR4 (L4212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361145	NM_020765.3(UBR4):c.12620C>T (p.Pro4207Leu)	UBR4 (P4207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185811	NM_020765.3(UBR4):c.12541G>T (p.Ala4181Ser)	UBR4 (A4181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638414	NM_020765.3(UBR4):c.12400T>G (p.Phe4134Val)	UBR4 (F4134V)	Single nucleotide variant (missense variant)	UBR4-related disorder +1 more	GLikely benign
Select item 2564845	NM_020765.3(UBR4):c.12389G>A (p.Arg4130Gln)	UBR4 (R4130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253511	NM_020765.3(UBR4):c.12334C>T (p.Arg4112Trp)	UBR4 (R4112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214210	NM_020765.3(UBR4):c.12334C>G (p.Arg4112Gly)	UBR4 (R4112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185810	NM_020765.3(UBR4):c.12304G>C (p.Val4102Leu)	UBR4 (V4102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256766	NM_020765.3(UBR4):c.12220T>G (p.Cys4074Gly)	UBR4 (C4074G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059919	NM_020765.3(UBR4):c.12117T>C (p.Val4039=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 2602135	NM_020765.3(UBR4):c.12115G>A (p.Val4039Ile)	UBR4 (V4039I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637308	NM_020765.3(UBR4):c.11945A>G (p.Glu3982Gly)	UBR4 (E3982G)	Single nucleotide variant (missense variant)	UBR4-related disorder	GUncertain significance
Select item 3185808	NM_020765.3(UBR4):c.11935A>G (p.Ile3979Val)	UBR4 (I3979V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332844	NM_020765.3(UBR4):c.11933C>T (p.Ser3978Phe)	UBR4 (S3978F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043237	NM_020765.3(UBR4):c.11893-4C>G	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder	GLikely benign
Select item 764897	NM_020765.3(UBR4):c.11892+8G>A	UBR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791780	NM_020765.3(UBR4):c.11793C>A (p.Leu3931=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3185806	NM_020765.3(UBR4):c.11786T>C (p.Met3929Thr)	UBR4 (M3929T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185805	NM_020765.3(UBR4):c.11764C>T (p.Arg3922Trp)	UBR4 (R3922W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185804	NM_020765.3(UBR4):c.11747G>A (p.Arg3916Gln)	UBR4 (R3916Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211770	NM_020765.3(UBR4):c.11683G>A (p.Ala3895Thr)	UBR4 (A3895T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726078	NM_020765.3(UBR4):c.11655A>G (p.Thr3885=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2348850	NM_020765.3(UBR4):c.11650A>G (p.Ile3884Val)	UBR4 (I3884V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049222	NM_020765.3(UBR4):c.11625C>T (p.Cys3875=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 994346	NM_020765.3(UBR4):c.11615G>C (p.Cys3872Ser)	UBR4 (C3872S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638415	NM_020765.3(UBR4):c.11445C>T (p.Ser3815=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2295922	NM_020765.3(UBR4):c.11417A>T (p.Asp3806Val)	UBR4 (D3806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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