ClinVar for Gene (Select 23352) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351238	NM_020765.3(UBR4):c.10259A>G (p.Asn3420Ser)	LOC126805641, UBR4 (N3420S)	Single nucleotide variant (missense variant)	UBR4-related disorder	GUncertain significance
Select item 3350658	NM_020765.3(UBR4):c.11473C>T (p.Arg3825Cys)	UBR4 (R3825C)	Single nucleotide variant (missense variant)	UBR4-related disorder	GUncertain significance
Select item 3346441	NM_020765.3(UBR4):c.8132G>A (p.Arg2711Gln)	UBR4 (R2711Q)	Single nucleotide variant (missense variant)	UBR4-related disorder	GUncertain significance
Select item 3346258	NM_020765.3(UBR4):c.7932T>A (p.Pro2644=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 3345254	NM_020765.3(UBR4):c.12690C>T (p.Thr4230=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 3338534	NM_020765.3(UBR4):c.6459-1G>A	UBR4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3336974	NM_020765.3(UBR4):c.3035T>G (p.Ile1012Ser)	UBR4 (I1012S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3330720	NM_020765.3(UBR4):c.3110A>G (p.His1037Arg)	UBR4 (H1037R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330719	NM_020765.3(UBR4):c.10434A>C (p.Lys3478Asn)	LOC126805641, UBR4 (K3478N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330718	NM_020765.3(UBR4):c.5401A>T (p.Asn1801Tyr)	LOC126805644, UBR4 (N1801Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330717	NM_020765.3(UBR4):c.19G>C (p.Glu7Gln)	LOC129929564, UBR4 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330716	NM_020765.3(UBR4):c.8351A>G (p.Asn2784Ser)	UBR4 (N2784S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330715	NM_020765.3(UBR4):c.4871A>T (p.Asp1624Val)	UBR4 (D1624V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330714	NM_020765.3(UBR4):c.6146T>G (p.Val2049Gly)	UBR4 (V2049G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330713	NM_020765.3(UBR4):c.10756A>C (p.Met3586Leu)	UBR4 (M3586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330712	NM_020765.3(UBR4):c.739C>A (p.Leu247Ile)	UBR4 (L247I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330711	NM_020765.3(UBR4):c.614C>T (p.Thr205Ile)	UBR4 (T205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330709	NM_020765.3(UBR4):c.697A>G (p.Ile233Val)	UBR4 (I233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330708	NM_020765.3(UBR4):c.15347A>C (p.Glu5116Ala)	UBR4 (E5116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330707	NM_020765.3(UBR4):c.566T>C (p.Val189Ala)	UBR4 (V189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330706	NM_020765.3(UBR4):c.712G>A (p.Val238Met)	UBR4 (V238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330705	NM_020765.3(UBR4):c.6397G>T (p.Ala2133Ser)	UBR4 (A2133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330704	NM_020765.3(UBR4):c.1496G>T (p.Gly499Val)	UBR4 (G499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330703	NM_020765.3(UBR4):c.12088A>T (p.Thr4030Ser)	UBR4 (T4030S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330702	NM_020765.3(UBR4):c.2381C>T (p.Ala794Val)	UBR4 (A794V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330701	NM_020765.3(UBR4):c.7715G>A (p.Arg2572Lys)	UBR4 (R2572K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330700	NM_020765.3(UBR4):c.12898A>T (p.Thr4300Ser)	UBR4 (T4300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330699	NM_020765.3(UBR4):c.1921C>T (p.Arg641Cys)	UBR4 (R641C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330698	NM_020765.3(UBR4):c.9713G>A (p.Arg3238His)	LOC126805642, UBR4 (R3238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330697	NM_020765.3(UBR4):c.7607G>A (p.Arg2536His)	UBR4 (R2536H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330696	NM_020765.3(UBR4):c.2705G>A (p.Arg902Gln)	UBR4 (R902Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330695	NM_020765.3(UBR4):c.8071C>G (p.Pro2691Ala)	UBR4 (P2691A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330694	NM_020765.3(UBR4):c.6839G>A (p.Arg2280His)	UBR4 (R2280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247990	NC_000001.10:g.(?_19228936)_(19578003_?)dup	ALDH4A1, EMC1 +2 more	Duplication	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3234489	NM_020765.3(UBR4):c.13725T>C (p.Ala4575=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185862	NM_020765.3(UBR4):c.9943G>A (p.Val3315Met)	UBR4 (V3315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185861	NM_020765.3(UBR4):c.9523A>G (p.Thr3175Ala)	UBR4 (T3175A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185860	NM_020765.3(UBR4):c.934A>G (p.Thr312Ala)	UBR4 (T312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185859	NM_020765.3(UBR4):c.9136A>G (p.Ser3046Gly)	UBR4 (S3046G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185858	NM_020765.3(UBR4):c.8972T>C (p.Val2991Ala)	UBR4 (V2991A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185857	NM_020765.3(UBR4):c.8782G>C (p.Ala2928Pro)	UBR4 (A2928P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185856	NM_020765.3(UBR4):c.8764A>G (p.Thr2922Ala)	UBR4 (T2922A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185855	NM_020765.3(UBR4):c.8279G>C (p.Ser2760Thr)	UBR4 (S2760T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185854	NM_020765.3(UBR4):c.7987A>G (p.Ile2663Val)	UBR4 (I2663V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185853	NM_020765.3(UBR4):c.7277C>G (p.Thr2426Ser)	UBR4 (T2426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185852	NM_020765.3(UBR4):c.7114G>A (p.Gly2372Ser)	UBR4 (G2372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185851	NM_020765.3(UBR4):c.6848G>T (p.Ser2283Ile)	UBR4 (S2283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185850	NM_020765.3(UBR4):c.671A>G (p.Gln224Arg)	UBR4 (Q224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185849	NM_020765.3(UBR4):c.6679C>T (p.Arg2227Trp)	UBR4 (R2227W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185848	NM_020765.3(UBR4):c.6329G>C (p.Gly2110Ala)	UBR4 (G2110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185847	NM_020765.3(UBR4):c.6210C>G (p.Ile2070Met)	UBR4 (I2070M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185846	NM_020765.3(UBR4):c.6040G>A (p.Glu2014Lys)	LOC126805643, UBR4 (E2014K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185845	NM_020765.3(UBR4):c.5497G>A (p.Gly1833Arg)	UBR4 (G1833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185844	NM_020765.3(UBR4):c.5411A>T (p.Asn1804Ile)	UBR4 (N1804I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185843	NM_020765.3(UBR4):c.4790G>A (p.Cys1597Tyr)	UBR4 (C1597Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185842	NM_020765.3(UBR4):c.4585G>A (p.Gly1529Ser)	UBR4 (G1529S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185841	NM_020765.3(UBR4):c.4501C>G (p.Arg1501Gly)	UBR4 (R1501G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185840	NM_020765.3(UBR4):c.40C>T (p.Pro14Ser)	LOC129929564, UBR4 (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185839	NM_020765.3(UBR4):c.3966C>A (p.Ser1322Arg)	UBR4 (S1322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185838	NM_020765.3(UBR4):c.3848C>G (p.Ser1283Cys)	UBR4 (S1283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185837	NM_020765.3(UBR4):c.3647C>T (p.Pro1216Leu)	UBR4 (P1216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185836	NM_020765.3(UBR4):c.3631G>A (p.Ala1211Thr)	UBR4 (A1211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185835	NM_020765.3(UBR4):c.323T>C (p.Ile108Thr)	UBR4 (I108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185834	NM_020765.3(UBR4):c.3233C>T (p.Thr1078Ile)	UBR4 (T1078I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185833	NM_020765.3(UBR4):c.31G>A (p.Ala11Thr)	LOC129929564, UBR4 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185832	NM_020765.3(UBR4):c.3112A>T (p.Thr1038Ser)	UBR4 (T1038S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185831	NM_020765.3(UBR4):c.2995C>T (p.Leu999Phe)	UBR4 (L999F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185830	NM_020765.3(UBR4):c.2702G>T (p.Arg901Leu)	UBR4 (R901L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185829	NM_020765.3(UBR4):c.2696A>G (p.Asn899Ser)	UBR4 (N899S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185828	NM_020765.3(UBR4):c.2326G>A (p.Val776Ile)	UBR4 (V776I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185827	NM_020765.3(UBR4):c.2308G>A (p.Ala770Thr)	UBR4 (A770T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185826	NM_020765.3(UBR4):c.1973T>C (p.Ile658Thr)	UBR4 (I658T)	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 3185823	NM_020765.3(UBR4):c.152A>C (p.Gln51Pro)	LOC129929564, UBR4 (Q51P)	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 3185821	NM_020765.3(UBR4):c.15163C>T (p.Arg5055Cys)	LOC126805640, UBR4 (R5055C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185819	NM_020765.3(UBR4):c.14606A>G (p.Asn4869Ser)	UBR4 (N4869S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185817	NM_020765.3(UBR4):c.14429C>T (p.Thr4810Met)	UBR4 (T4810M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185814	NM_020765.3(UBR4):c.13289G>A (p.Cys4430Tyr)	UBR4 (C4430Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185812	NM_020765.3(UBR4):c.1261A>G (p.Ile421Val)	UBR4 (I421V)	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 3185810	NM_020765.3(UBR4):c.12304G>C (p.Val4102Leu)	UBR4 (V4102L)	Single nucleotide variant (missense variant)	not specified	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 3185807	NM_020765.3(UBR4):c.1190G>A (p.Arg397Gln)	UBR4 (R397Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185803	NM_020765.3(UBR4):c.1129A>G (p.Ile377Val)	UBR4 (I377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185802	NM_020765.3(UBR4):c.11213A>G (p.Asn3738Ser)	UBR4 (N3738S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185801	NM_020765.3(UBR4):c.10517A>G (p.Asn3506Ser)	UBR4 (N3506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185800	NM_020765.3(UBR4):c.10282G>A (p.Ala3428Thr)	LOC126805641, UBR4 (A3428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185799	NM_020765.3(UBR4):c.10274G>A (p.Arg3425His)	LOC126805641, UBR4 (R3425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185798	NM_020765.3(UBR4):c.10157G>A (p.Ser3386Asn)	LOC126805641, UBR4 (S3386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185797	NM_020765.3(UBR4):c.10030A>G (p.Ser3344Gly)	UBR4 (S3344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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