"PreventionGenetics, part of Exact Sciences"[submitter] AND "UBR4"[gen - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3038747	NM_020765.3(UBR4):c.15369C>T (p.Leu5123=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 3050405	NM_020765.3(UBR4):c.15325-4G>T	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder	GBenign
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 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 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 3058010	NM_020765.3(UBR4):c.14721C>T (p.Ala4907=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
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 1334332	NM_020765.3(UBR4):c.14379G>A (p.Lys4793=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3037296	NM_020765.3(UBR4):c.14244G>A (p.Leu4748=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
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 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 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 3059919	NM_020765.3(UBR4):c.12117T>C (p.Val4039=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
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 3043237	NM_020765.3(UBR4):c.11893-4C>G	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder	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 726078	NM_020765.3(UBR4):c.11655A>G (p.Thr3885=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 733014	NM_020765.3(UBR4):c.11274A>G (p.Pro3758=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053774	NM_020765.3(UBR4):c.11127C>G (p.Ala3709=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 774787	NM_020765.3(UBR4):c.11097C>T (p.Leu3699=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2637257	NM_020765.3(UBR4):c.10709C>T (p.Thr3570Ile)	UBR4 (T3570I)	Single nucleotide variant (missense variant)	UBR4-related disorder	GUncertain significance
Select item 723871	NM_020765.3(UBR4):c.10662G>A (p.Thr3554=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3049757	NM_020765.3(UBR4):c.10648A>G (p.Ile3550Val)	UBR4 (I3550V)	Single nucleotide variant (missense variant)	UBR4-related disorder	GBenign
Select item 3050592	NM_020765.3(UBR4):c.10245C>T (p.Phe3415=)	LOC126805641, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 719165	NM_020765.3(UBR4):c.10215G>A (p.Lys3405=)	LOC126805641, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign/Likely benign
Select item 774788	NM_020765.3(UBR4):c.10131G>A (p.Lys3377=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3056550	NM_020765.3(UBR4):c.10005A>G (p.Ala3335=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 1321478	NM_020765.3(UBR4):c.9981G>C (p.Leu3327=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 791415	NM_020765.3(UBR4):c.9942C>T (p.Gly3314=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign/Likely benign
Select item 774789	NM_020765.3(UBR4):c.9447T>A (p.Ala3149=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2638418	NM_020765.3(UBR4):c.9300C>T (p.His3100=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GLikely benign
Select item 737582	NM_020765.3(UBR4):c.9111+9T>C	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3043313	NM_020765.3(UBR4):c.8856C>T (p.Ser2952=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 3042180	NM_020765.3(UBR4):c.8553C>T (p.Ser2851=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 2466301	NM_020765.3(UBR4):c.8404C>G (p.Pro2802Ala)	UBR4 (P2802A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3037945	NM_020765.3(UBR4):c.7959T>C (p.Ile2653=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 3040677	NM_020765.3(UBR4):c.7638C>T (p.Ala2546=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 735066	NM_020765.3(UBR4):c.7629+7G>T	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3036854	NM_020765.3(UBR4):c.7519G>C (p.Glu2507Gln)	UBR4 (E2507Q)	Single nucleotide variant (missense variant)	UBR4-related disorder	GUncertain significance
Select item 791781	NM_020765.3(UBR4):c.7305G>A (p.Glu2435=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 729789	NM_020765.3(UBR4):c.6999C>T (p.Pro2333=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3041676	NM_020765.3(UBR4):c.6989A>G (p.Asn2330Ser)	UBR4 (N2330S)	Single nucleotide variant (missense variant)	UBR4-related disorder	GLikely benign
Select item 3045716	NM_020765.3(UBR4):c.6393A>G (p.Ser2131=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 734105	NM_020765.3(UBR4):c.6072+5A>G	UBR4, LOC126805643	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 737718	NM_020765.3(UBR4):c.6039C>T (p.Thr2013=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3039925	NM_020765.3(UBR4):c.5883C>A (p.Pro1961=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 798895	NM_020765.3(UBR4):c.5766C>T (p.Thr1922=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GLikely benign
Select item 774790	NM_020765.3(UBR4):c.5760+10C>T	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 732339	NM_020765.3(UBR4):c.5760+3G>A	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3036219	NM_020765.3(UBR4):c.5556G>A (p.Val1852=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 2630058	NM_020765.3(UBR4):c.5510G>A (p.Arg1837His)	UBR4 (R1837H)	Single nucleotide variant (missense variant)	UBR4-related disorder	GUncertain significance
Select item 3048108	NM_020765.3(UBR4):c.5286C>T (p.Ser1762=)	LOC126805644, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 2638422	NM_020765.3(UBR4):c.4923G>A (p.Ala1641=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign
Select item 728383	NM_020765.3(UBR4):c.4765-7C>T	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 722108	NM_020765.3(UBR4):c.4737A>G (p.Lys1579=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3034779	NM_020765.3(UBR4):c.4707A>G (p.Lys1569=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 786455	NM_020765.3(UBR4):c.4313-10C>T	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder +1 more	GBenign
Select item 728384	NM_020765.3(UBR4):c.4211+10G>A	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3042181	NM_020765.3(UBR4):c.3987C>T (p.Ile1329=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 716041	NM_020765.3(UBR4):c.3815C>T (p.Thr1272Ile)	UBR4 (T1272I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 738555	NM_020765.3(UBR4):c.3644-8G>A	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3053654	NM_020765.3(UBR4):c.3569C>T (p.Pro1190Leu)	UBR4 (P1190L)	Single nucleotide variant (missense variant)	UBR4-related disorder	GBenign
Select item 775520	NM_020765.3(UBR4):c.3453G>A (p.Ser1151=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign
Select item 742769	NM_020765.3(UBR4):c.3381G>A (p.Ala1127=)	UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3059107	NM_020765.3(UBR4):c.3319A>G (p.Thr1107Ala)	UBR4 (T1107A)	Single nucleotide variant (missense variant)	UBR4-related disorder	GBenign
Select item 3055654	NM_020765.3(UBR4):c.3144C>T (p.Ser1048=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GBenign
Select item 709355	NM_020765.3(UBR4):c.3010T>C (p.Leu1004=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign/Likely benign
Select item 3037213	NM_020765.3(UBR4):c.2742A>G (p.Val914=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 786456	NM_020765.3(UBR4):c.2678G>A (p.Ser893Asn)	UBR4 (S893N)	Single nucleotide variant (missense variant)	UBR4-related disorder +1 more	GBenign
Select item 3058691	NM_020765.3(UBR4):c.2637+5A>G	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder	GLikely benign
Select item 774791	NM_020765.3(UBR4):c.2530A>G (p.Met844Val)	UBR4 (M844V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 778208	NM_020765.3(UBR4):c.2465C>G (p.Thr822Ser)	UBR4 (T822S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3060558	NM_020765.3(UBR4):c.2099-4T>C	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder	GBenign
Select item 786457	NM_020765.3(UBR4):c.1857C>T (p.Ser619=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign
Select item 709175	NM_020765.3(UBR4):c.1779A>G (p.Gln593=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign
Select item 728385	NM_020765.3(UBR4):c.1495-7C>G	UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 782364	NM_020765.3(UBR4):c.529G>T (p.Ala177Ser)	UBR4 (A177S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 709545	NM_020765.3(UBR4):c.508+4G>A	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder +1 more	GLikely benign
Select item 2638427	NM_020765.3(UBR4):c.274+3A>G	UBR4	Single nucleotide variant (intron variant)	UBR4-related disorder +1 more	GBenign/Likely benign
Select item 2638428	NM_020765.3(UBR4):c.210C>T (p.Tyr70=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign/Likely benign
Select item 2638429	NM_020765.3(UBR4):c.-4G>A	LOC129929564, UBR4	Single nucleotide variant (5 prime UTR variant)	UBR4-related disorder +1 more	GBenign

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Items: 88