"Ambry Genetics"[submitter] AND "UBR4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3330708	NM_020765.3(UBR4):c.15347A>C (p.Glu5116Ala)	UBR4 (E5116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 2246409	NM_020765.3(UBR4):c.13630C>G (p.Leu4544Val)	UBR4 (L4544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3185814	NM_020765.3(UBR4):c.13289G>A (p.Cys4430Tyr)	UBR4 (C4430Y)	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 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 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 2602135	NM_020765.3(UBR4):c.12115G>A (p.Val4039Ile)	UBR4 (V4039I)	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 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 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 2348850	NM_020765.3(UBR4):c.11650A>G (p.Ile3884Val)	UBR4 (I3884V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295922	NM_020765.3(UBR4):c.11417A>T (p.Asp3806Val)	UBR4 (D3806V)	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 2618374	NM_020765.3(UBR4):c.11147A>G (p.Tyr3716Cys)	UBR4 (Y3716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559284	NM_020765.3(UBR4):c.10903A>G (p.Ile3635Val)	UBR4 (I3635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604200	NM_020765.3(UBR4):c.10790G>A (p.Arg3597Gln)	UBR4 (R3597Q)	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 2540858	NM_020765.3(UBR4):c.10588G>A (p.Asp3530Asn)	UBR4 (D3530N)	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 3330719	NM_020765.3(UBR4):c.10434A>C (p.Lys3478Asn)	LOC126805641, UBR4 (K3478N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564912	NM_020765.3(UBR4):c.10387C>T (p.Arg3463Cys)	LOC126805641, UBR4 (R3463C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347963	NM_020765.3(UBR4):c.10348C>G (p.Leu3450Val)	LOC126805641, UBR4 (L3450V)	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 2555413	NM_020765.3(UBR4):c.10238G>A (p.Arg3413His)	LOC126805641, UBR4 (R3413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551589	NM_020765.3(UBR4):c.10218A>C (p.Glu3406Asp)	LOC126805641, UBR4 (E3406D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268462	NM_020765.3(UBR4):c.10205T>C (p.Phe3402Ser)	LOC126805641, UBR4 (F3402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536605	NM_020765.3(UBR4):c.10180G>A (p.Ala3394Thr)	LOC126805641, UBR4 (A3394T)	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
Select item 2241173	NM_020765.3(UBR4):c.9979C>G (p.Leu3327Val)	UBR4 (L3327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2366034	NM_020765.3(UBR4):c.9862A>G (p.Ile3288Val)	UBR4 (I3288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457293	NM_020765.3(UBR4):c.9850G>A (p.Ala3284Thr)	UBR4 (A3284T)	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 2221603	NM_020765.3(UBR4):c.9709G>A (p.Val3237Met)	LOC126805642, UBR4 (V3237M)	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 2235336	NM_020765.3(UBR4):c.9187A>T (p.Met3063Leu)	UBR4 (M3063L)	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 2206630	NM_020765.3(UBR4):c.9119C>T (p.Ser3040Phe)	UBR4 (S3040F)	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 2514516	NM_020765.3(UBR4):c.8966G>A (p.Arg2989Gln)	UBR4 (R2989Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306262	NM_020765.3(UBR4):c.8921G>T (p.Arg2974Leu)	UBR4 (R2974L)	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 2543869	NM_020765.3(UBR4):c.8707G>A (p.Asp2903Asn)	UBR4 (D2903N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298335	NM_020765.3(UBR4):c.8507T>C (p.Leu2836Pro)	UBR4 (L2836P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466301	NM_020765.3(UBR4):c.8404C>G (p.Pro2802Ala)	UBR4 (P2802A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872236	NM_020765.3(UBR4):c.8389G>A (p.Ala2797Thr)	UBR4 (A2797T)	Single nucleotide variant (missense variant)	not specified +1 more	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 3185855	NM_020765.3(UBR4):c.8279G>C (p.Ser2760Thr)	UBR4 (S2760T)	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 2329140	NM_020765.3(UBR4):c.8015T>C (p.Leu2672Pro)	UBR4 (L2672P)	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 2302970	NM_020765.3(UBR4):c.7934C>T (p.Ala2645Val)	UBR4 (A2645V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288470	NM_020765.3(UBR4):c.7751G>A (p.Arg2584His)	UBR4 (R2584H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493600	NM_020765.3(UBR4):c.7747A>G (p.Met2583Val)	UBR4 (M2583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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