ClinVar for Gene (Select 130507) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345335	NM_172070.4(UBR3):c.4660+1G>A	UBR3	Single nucleotide variant (splice donor variant)	UBR3-related disorder	GUncertain significance
Select item 3330693	NM_172070.4(UBR3):c.2981G>A (p.Arg994Gln)	UBR3 (R994Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330692	NM_172070.4(UBR3):c.3342C>G (p.Asp1114Glu)	UBR3 (D1114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330691	NM_172070.4(UBR3):c.3152A>G (p.Asn1051Ser)	UBR3 (N1051S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330690	NM_172070.4(UBR3):c.2113T>A (p.Cys705Ser)	UBR3 (C705S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330689	NM_172070.4(UBR3):c.707A>T (p.Lys236Met)	UBR3 (K236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185796	NM_172070.4(UBR3):c.943G>A (p.Gly315Ser)	UBR3 (G315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185795	NM_172070.4(UBR3):c.885G>C (p.Lys295Asn)	UBR3 (K295N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185794	NM_172070.4(UBR3):c.4337A>G (p.Asn1446Ser)	UBR3 (N1446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185792	NM_172070.4(UBR3):c.3749C>T (p.Pro1250Leu)	UBR3 (P1250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185791	NM_172070.4(UBR3):c.3515C>T (p.Ala1172Val)	UBR3 (A1172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185790	NM_172070.4(UBR3):c.3155G>A (p.Arg1052His)	UBR3 (R1052H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185788	NM_172070.4(UBR3):c.3018G>C (p.Glu1006Asp)	UBR3 (E1006D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185787	NM_172070.4(UBR3):c.2893G>A (p.Glu965Lys)	UBR3 (E965K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185786	NM_172070.4(UBR3):c.2782G>A (p.Val928Met)	UBR3 (V928M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185785	NM_172070.4(UBR3):c.2483C>T (p.Ser828Leu)	UBR3 (S828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185784	NM_172070.4(UBR3):c.2189C>T (p.Ser730Leu)	UBR3 (S730L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185783	NM_172070.4(UBR3):c.2089A>G (p.Met697Val)	UBR3 (M697V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185782	NM_172070.4(UBR3):c.19G>C (p.Ala7Pro)	LOC129935076, UBR3 (A7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185781	NM_172070.4(UBR3):c.184G>A (p.Glu62Lys)	LOC129935076, UBR3 (E62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185780	NM_172070.4(UBR3):c.1449T>G (p.Ile483Met)	UBR3 (I483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185779	NM_172070.4(UBR3):c.1036G>A (p.Glu346Lys)	UBR3 (E346K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185778	NM_172070.4(UBR3):c.1003A>G (p.Thr335Ala)	UBR3 (T335A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3060992	NM_172070.4(UBR3):c.1671A>T (p.Leu557=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3060985	NM_172070.4(UBR3):c.4845A>G (p.Leu1615=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3058824	NM_172070.4(UBR3):c.4704C>T (p.Tyr1568=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3057486	NM_172070.4(UBR3):c.640A>G (p.Ile214Val)	UBR3 (I214V)	Single nucleotide variant (missense variant)	UBR3-related disorder	GLikely benign
Select item 3057181	NM_172070.4(UBR3):c.1996C>T (p.Leu666=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3056001	NM_172070.4(UBR3):c.4923C>G (p.Ser1641=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3054969	NM_172070.4(UBR3):c.255G>A (p.Ala85=)	LOC129935076, UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3051399	NM_172070.4(UBR3):c.1353C>T (p.Phe451=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3049374	NM_172070.4(UBR3):c.3451C>T (p.Arg1151Cys)	UBR3 (R1151C)	Single nucleotide variant (missense variant)	UBR3-related disorder	GLikely benign
Select item 3048990	NM_172070.4(UBR3):c.5410-3dup	UBR3	Duplication (intron variant)	UBR3-related disorder	GLikely benign
Select item 3048937	NM_172070.4(UBR3):c.4893+4T>A	UBR3	Single nucleotide variant (intron variant)	UBR3-related disorder	GLikely benign
Select item 3047164	NM_172070.4(UBR3):c.3067A>G (p.Asn1023Asp)	UBR3 (N1023D)	Single nucleotide variant (missense variant)	UBR3-related disorder	GLikely benign
Select item 3045254	NM_172070.4(UBR3):c.3702T>C (p.Tyr1234=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3042698	NM_172070.4(UBR3):c.2655T>C (p.Tyr885=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3042682	NM_172070.4(UBR3):c.1530C>T (p.Tyr510=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3042299	NM_172070.4(UBR3):c.2151+4_2151+5insAT	UBR3	Insertion (intron variant)	UBR3-related disorder	GLikely benign
Select item 3034181	NM_172070.4(UBR3):c.545+10G>A	UBR3	Single nucleotide variant (intron variant)	UBR3-related disorder	GLikely benign
Select item 3033312	NM_172070.4(UBR3):c.423C>T (p.Cys141=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 2690410	NM_172070.4(UBR3):c.2743G>C (p.Gly915Arg)	UBR3 (G915R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690409	NM_172070.4(UBR3):c.1276A>G (p.Ile426Val)	UBR3 (I426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651531	NM_172070.4(UBR3):c.1626C>T (p.Asn542=)	UBR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2651530	NM_172070.4(UBR3):c.999C>T (p.Gly333=)	UBR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2632790	NM_172070.4(UBR3):c.407G>A (p.Cys136Tyr)	UBR3 (C136Y)	Single nucleotide variant (missense variant)	UBR3-related disorder	GUncertain significance
Select item 2632750	NM_172070.4(UBR3):c.613_614del (p.Met205fs)	UBR3 (M205fs)	Deletion (frameshift variant)	UBR3-related disorder	GUncertain significance
Select item 2608382	NM_172070.4(UBR3):c.4202A>C (p.Glu1401Ala)	LOC122847311, UBR3 (E1401A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603644	NM_172070.4(UBR3):c.2909A>C (p.Glu970Ala)	UBR3 (E970A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602631	NM_172070.4(UBR3):c.5069C>T (p.Thr1690Met)	UBR3 (T1690M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548502	NM_172070.4(UBR3):c.4679T>C (p.Val1560Ala)	UBR3 (V1560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536450	NM_172070.4(UBR3):c.1153C>A (p.Leu385Ile)	UBR3 (L385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536315	NM_172070.4(UBR3):c.2132C>G (p.Pro711Arg)	UBR3 (P711R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529537	NM_172070.4(UBR3):c.4499T>C (p.Ile1500Thr)	UBR3 (I1500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494305	NM_172070.4(UBR3):c.2890G>A (p.Glu964Lys)	UBR3 (E964K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484450	NM_172070.4(UBR3):c.580A>G (p.Asn194Asp)	UBR3 (N194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483589	NM_172070.4(UBR3):c.4309T>C (p.Tyr1437His)	UBR3 (Y1437H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479142	NM_172070.4(UBR3):c.3028G>C (p.Glu1010Gln)	UBR3 (E1010Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469761	NM_172070.4(UBR3):c.2741A>T (p.Lys914Ile)	UBR3 (K914I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404847	NM_172070.4(UBR3):c.3154C>T (p.Arg1052Cys)	UBR3 (R1052C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403335	NM_172070.4(UBR3):c.1507G>A (p.Ala503Thr)	UBR3 (A503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378963	NM_172070.4(UBR3):c.612G>C (p.Met204Ile)	UBR3 (M204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374511	NM_172070.4(UBR3):c.3410G>T (p.Arg1137Ile)	UBR3 (R1137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349774	NM_172070.4(UBR3):c.4781A>G (p.Lys1594Arg)	UBR3 (K1594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340056	NM_172070.4(UBR3):c.3403G>A (p.Val1135Met)	UBR3 (V1135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332321	NM_172070.4(UBR3):c.622T>C (p.Phe208Leu)	UBR3 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326868	NM_172070.4(UBR3):c.4767C>G (p.His1589Gln)	UBR3 (H1589Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313069	NM_172070.4(UBR3):c.970A>C (p.Ser324Arg)	UBR3 (S324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307226	NM_172070.4(UBR3):c.5035T>C (p.Ser1679Pro)	UBR3 (S1679P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306528	NM_172070.4(UBR3):c.92C>T (p.Thr31Ile)	LOC129935076, UBR3 (T31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298686	NM_172070.4(UBR3):c.2257C>T (p.Leu753Phe)	UBR3 (L753F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290121	NM_172070.4(UBR3):c.704A>G (p.Glu235Gly)	UBR3 (E235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287308	NM_172070.4(UBR3):c.4673G>T (p.Cys1558Phe)	UBR3 (C1558F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255615	NM_172070.4(UBR3):c.3799C>T (p.Arg1267Cys)	UBR3 (R1267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236018	NM_172070.4(UBR3):c.4624A>C (p.Ile1542Leu)	UBR3 (I1542L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236017	NM_172070.4(UBR3):c.3548G>A (p.Arg1183Gln)	UBR3 (R1183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230178	NM_172070.4(UBR3):c.26T>G (p.Val9Gly)	LOC129935076, UBR3 (V9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222374	NM_172070.4(UBR3):c.542G>A (p.Ser181Asn)	UBR3 (S181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222136	NM_172070.4(UBR3):c.826T>C (p.Tyr276His)	UBR3 (Y276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221770	NM_172070.4(UBR3):c.1358A>G (p.Asn453Ser)	UBR3 (N453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217790	NM_172070.4(UBR3):c.3377A>G (p.Tyr1126Cys)	UBR3 (Y1126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 730737	NM_172070.4(UBR3):c.4323G>A (p.Pro1441=)	UBR3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 684540	NM_172070.4(UBR3):c.5023G>C (p.Glu1675Gln)	UBR3 (E1675Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 493299	NM_172070.4(UBR3):c.913C>G (p.Leu305Val)	UBR3 (L305V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443256	GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	ABCB11, BBS5 +13 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 151403	GRCh38/hg38 2q31.1(chr2:169788598-169877259)x3	LOC129935075, LOC129935076 +5 more	Copy number gain	See cases	GLikely benign
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic

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