"PreventionGenetics, part of Exact Sciences"[submitter] AND "RIC3"[gen - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2078818	NM_177972.3(TUB):c.285G>T (p.Gln95His)	RIC3, TUB (Q150H +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder +1 more	GUncertain significance
Select item 1026722	NM_177972.3(TUB):c.298C>T (p.Arg100Cys)	RIC3, TUB (R100C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1995794	NM_177972.3(TUB):c.307G>A (p.Ala103Thr)	RIC3, TUB (A158T +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder +1 more	GUncertain significance
Select item 955486	NM_177972.3(TUB):c.352G>A (p.Gly118Ser)	RIC3, TUB (G118S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1083846	NM_177972.3(TUB):c.353G>A (p.Gly118Asp)	TUB, RIC3 (G118D +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder +1 more	GLikely benign
Select item 839656	NM_177972.3(TUB):c.358G>A (p.Gly120Ser)	RIC3, TUB (G120S +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636155	NM_177972.3(TUB):c.361G>A (p.Gly121Ser)	RIC3, TUB (G121S +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder	GUncertain significance
Select item 1122312	NM_177972.3(TUB):c.363C>T (p.Gly121=)	TUB, RIC3	Single nucleotide variant (synonymous variant +1 more)	TUB-related disorder +1 more	GLikely benign
Select item 962044	NM_177972.3(TUB):c.364G>A (p.Ala122Thr)	TUB, RIC3 (A122T +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder +3 more	GUncertain significance
Select item 1711316	NM_177972.3(TUB):c.367G>A (p.Ala123Thr)	RIC3, TUB (A123T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 939312	NM_177972.3(TUB):c.373A>G (p.Lys125Glu)	RIC3, TUB (K180E +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 852997	NM_177972.3(TUB):c.406G>A (p.Gly136Arg)	RIC3, TUB (G136R +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +2 more	GUncertain significance
Select item 1020820	NM_177972.3(TUB):c.451G>A (p.Val151Met)	RIC3, TUB (V151M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1446485	NM_177972.3(TUB):c.469G>C (p.Gly157Arg)	RIC3, TUB (G157R +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 1114585	NM_177972.3(TUB):c.483C>T (p.His161=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GLikely benign
Select item 3032768	NM_177972.3(TUB):c.484G>A (p.Ala162Thr)	RIC3, TUB (A162T +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 2629326	NM_177972.3(TUB):c.492C>A (p.Asp164Glu)	RIC3, TUB (D164E +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 1077918	NM_177972.3(TUB):c.492C>T (p.Asp164=)	TUB, RIC3	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GLikely benign
Select item 3061519	NM_177972.3(TUB):c.504G>A (p.Thr168=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 2628531	NM_177972.3(TUB):c.508G>A (p.Ala170Thr)	RIC3, TUB (A170T +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 1351443	NM_177972.3(TUB):c.520G>A (p.Glu174Lys)	RIC3, TUB (E229K +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 1412006	NM_177972.3(TUB):c.523C>T (p.Arg175Trp)	RIC3, TUB (R175W +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +2 more	GUncertain significance
Select item 2417690	NM_177972.3(TUB):c.531C>T (p.Ser177=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1431336	NM_177972.3(TUB):c.545G>A (p.Arg182His)	RIC3, TUB (R182H +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +2 more	GUncertain significance
Select item 2155354	NM_177972.3(TUB):c.551C>T (p.Thr184Met)	RIC3, TUB (T239M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2634487	NM_177972.3(TUB):c.568A>G (p.Ile190Val)	RIC3, TUB (I190V +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 1008099	NM_177972.3(TUB):c.597TGAGGAGGA[3] (p.199DEE[3])	TUB, RIC3	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1024754	NM_177972.3(TUB):c.597TGAGGAGGA[1] (p.199DEE[1])	RIC3, TUB	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1558531	NM_177972.3(TUB):c.614A>G (p.Glu205Gly)	RIC3, TUB (E205G +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GLikely benign
Select item 1050862	NM_177972.3(TUB):c.641A>G (p.Asn214Ser)	RIC3, TUB (N214S +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 1379742	NM_177972.3(TUB):c.682G>T (p.Val228Phe)	RIC3, TUB (V283F +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 764940	NM_177972.3(TUB):c.682G>A (p.Val228Ile)	RIC3, TUB (V228I +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GLikely benign
Select item 956470	NM_177972.3(TUB):c.736G>A (p.Val246Ile)	RIC3, TUB (V301I +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 1362923	NM_177972.3(TUB):c.773C>G (p.Pro258Arg)	RIC3, TUB (P313R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1055303	NM_177972.3(TUB):c.773C>T (p.Pro258Leu)	RIC3, TUB (P258L +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 781808	NM_177972.3(TUB):c.787A>G (p.Ile263Val)	TUB, RIC3 (I263V +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GLikely benign
Select item 1025993	NM_177972.3(TUB):c.833G>A (p.Arg278Gln)	RIC3, TUB (R278Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404418	NM_177972.3(TUB):c.889T>C (p.Phe297Leu)	RIC3, TUB (F297L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017257	NM_177972.3(TUB):c.973G>C (p.Gly325Arg)	RIC3, TUB (G325R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1647976	NM_177972.3(TUB):c.975G>A (p.Gly325=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1118743	NM_177972.3(TUB):c.990G>A (p.Gly330=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1081865	NM_177972.3(TUB):c.998+10T>C	TUB, RIC3	Single nucleotide variant (intron variant)	TUB-related disorder +1 more	GLikely benign
Select item 1105434	NM_177972.3(TUB):c.1008G>A (p.Leu336=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GLikely benign
Select item 2983572	NM_177972.3(TUB):c.1092T>G (p.Arg364=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 728229	NM_177972.3(TUB):c.1125C>T (p.Asn375=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1948714	NM_177972.3(TUB):c.1134C>T (p.Gly378=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1035069	NM_177972.3(TUB):c.1155G>A (p.Met385Ile)	RIC3, TUB (M385I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1010424	NM_177972.3(TUB):c.1159G>A (p.Val387Met)	RIC3, TUB (V387M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 972394	NM_177972.3(TUB):c.1180A>G (p.Met394Val)	RIC3, TUB (M449V +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1038120	NM_177972.3(TUB):c.1187A>G (p.His396Arg)	RIC3, TUB (H396R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1155133	NM_177972.3(TUB):c.1188T>C (p.His396=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GLikely benign
Select item 1024036	NM_177972.3(TUB):c.1204C>T (p.Arg402Cys)	RIC3, TUB (R402C +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 956724	NM_177972.3(TUB):c.1210C>T (p.Arg404Cys)	RIC3, TUB (R404C +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +2 more	GUncertain significance
Select item 1091773	NM_177972.3(TUB):c.1214A>G (p.Asn405Ser)	RIC3, TUB (N405S +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1918962	NM_177972.3(TUB):c.1215+7G>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 715959	NM_177972.3(TUB):c.1216-7C>G	RIC3, TUB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 943287	NM_177972.3(TUB):c.1237C>T (p.Arg413Cys)	RIC3, TUB (R413C +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 1485765	NM_177972.3(TUB):c.1256C>T (p.Thr419Met)	TUB, RIC3 (T419M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 717347	NM_177972.3(TUB):c.1257G>A (p.Thr419=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1087933	NM_177972.3(TUB):c.1269C>T (p.Ile423=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GLikely benign
Select item 954012	NM_177972.3(TUB):c.1270G>A (p.Glu424Lys)	RIC3, TUB (E479K +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +3 more	GUncertain significance
Select item 3029428	NM_177972.3(TUB):c.1310A>G (p.Gln437Arg)	RIC3, TUB (Q437R +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder	GUncertain significance
Select item 952484	NM_177972.3(TUB):c.1339G>A (p.Val447Ile)	TUB, RIC3 (V447I +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 3057768	NM_177972.3(TUB):c.1377T>C (p.His459=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	GLikely benign
Select item 747050	NM_177972.3(TUB):c.1386C>T (p.Asp462=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 865971	NM_177972.3(TUB):c.1387+1G>A	RIC3, TUB	Single nucleotide variant (splice donor variant)	TUB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1114243	NM_177972.3(TUB):c.1387+7G>A	RIC3, TUB	Single nucleotide variant (intron variant)	TUB-related disorder +1 more	GLikely benign
Select item 1168423	NM_177972.3(TUB):c.1388-10T>G	RIC3, TUB	Single nucleotide variant (intron variant)	TUB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1104504	NM_177972.3(TUB):c.1388-6C>T	TUB, RIC3	Single nucleotide variant (intron variant)	TUB-related disorder +1 more	GLikely benign
Select item 957947	NM_177972.3(TUB):c.1388C>T (p.Pro463Leu)	RIC3, TUB (P518L +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +2 more	GUncertain significance
Select item 938160	NM_177972.3(TUB):c.1389G>A (p.Pro463=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1053276	NM_177972.3(TUB):c.1399G>A (p.Val467Met)	TUB, RIC3 (V467M +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 1125250	NM_177972.3(TUB):c.1419A>G (p.Val473=)	TUB, RIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1440115	NM_177972.3(TUB):c.1426G>A (p.Asp476Asn)	RIC3, TUB (D476N +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +1 more	GUncertain significance
Select item 1624575	NM_177972.3(TUB):c.1437C>A (p.Thr479=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 792149	NM_177972.3(TUB):c.1455G>A (p.Pro485=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GLikely benign
Select item 724196	NM_177972.3(TUB):c.1497C>T (p.Phe499=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 933300	NM_177972.3(TUB):c.1498G>A (p.Asp500Asn)	RIC3, TUB (D500N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 789790	NM_177972.3(TUB):c.1512G>A (p.Ala504=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder +1 more	GLikely benign
Select item 3043381	NM_001206671.4(RIC3):c.74A>G (p.Lys25Arg)	RIC3 (K25R)	Single nucleotide variant (missense variant +2 more)	RIC3-related disorder	GLikely benign

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Items: 80