ClinVar for Gene (Select 7275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061653	NM_003320.5(TUB):c.-1G>A	TUB	Single nucleotide variant (5 prime UTR variant)	TUB-related condition	GLikely benign
Select item 3061519	NM_177972.3(TUB):c.504G>A (p.Thr168=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related condition	GLikely benign
Select item 3060522	NM_177972.3(TUB):c.38+6C>T	TUB	Single nucleotide variant (intron variant)	TUB-related condition	GLikely benign
Select item 3057768	NM_177972.3(TUB):c.1377T>C (p.His459=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related condition	GLikely benign
Select item 3040862	NM_177972.3(TUB):c.-5G>A	TUB	Single nucleotide variant (5 prime UTR variant +1 more)	TUB-related condition	GLikely benign
Select item 3034922	NM_003320.5(TUB):c.87C>T (p.Pro29=)	TUB	Single nucleotide variant (synonymous variant)	TUB-related condition	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 condition	GUncertain significance
Select item 3031363	NM_003320.5(TUB):c.7G>A (p.Ala3Thr)	TUB (A3T)	Single nucleotide variant (missense variant)	TUB-related condition	GUncertain significance
Select item 3029458	NM_003320.5(TUB):c.156-9C>T	TUB	Single nucleotide variant (intron variant)	TUB-related condition	GLikely benign
Select item 3029428	NM_177972.3(TUB):c.1310A>G (p.Gln437Arg)	RIC3, TUB (Q437R +1 more)	Single nucleotide variant (missense variant)	TUB-related condition	GUncertain significance
Select item 3006379	NM_177972.3(TUB):c.1116+12G>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004917	NM_177972.3(TUB):c.869G>T (p.Arg290Leu)	RIC3, TUB (R290L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998825	NM_177972.3(TUB):c.39-17C>G	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989129	NM_177972.3(TUB):c.397+14C>G	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986566	NM_177972.3(TUB):c.263C>T (p.Ala88Val)	RIC3, TUB (A143V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984204	NM_177972.3(TUB):c.566-20T>C	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983572	NM_177972.3(TUB):c.1092T>G (p.Arg364=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related condition +1 more	GLikely benign
Select item 2981244	NM_177972.3(TUB):c.333G>A (p.Lys111=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976448	NM_003320.5(TUB):c.156-11T>C	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974332	NM_003320.5(TUB):c.203+14del	TUB	Deletion (intron variant)	not provided	GBenign
Select item 2973822	NM_177972.3(TUB):c.369T>C (p.Ala123=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966111	NM_177972.3(TUB):c.1062A>C (p.Ser354=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965381	NM_177972.3(TUB):c.999-16del	RIC3, TUB	Deletion (intron variant)	not provided	GLikely benign
Select item 2964693	NM_177972.3(TUB):c.885+17C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957140	NM_177972.3(TUB):c.414A>G (p.Ala138=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880169	NM_177972.3(TUB):c.471C>T (p.Gly157=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868073	NM_003320.5(TUB):c.105A>T (p.Ser35=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842556	NM_003320.5(TUB):c.129C>T (p.Pro43=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798525	NM_177972.3(TUB):c.273C>T (p.Leu91=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794843	NM_177972.3(TUB):c.885+20G>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785174	NM_177972.3(TUB):c.504G>T (p.Thr168=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771832	NM_177972.3(TUB):c.39-20A>T	TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760107	NM_177972.3(TUB):c.997C>A (p.Arg333=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2754308	NM_177972.3(TUB):c.886-5C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709422	NM_177972.3(TUB):c.1129T>C (p.Leu377=)	TUB, RIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705818	NM_177972.3(TUB):c.1425G>A (p.Glu475=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700878	NM_177972.3(TUB):c.1387+1del	RIC3, TUB	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2684636	GRCh37/hg19 11p15.4(chr11:7922549-8155364)x3	EIF3F, NLRP10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2662714	NM_177972.3(TUB):c.1519T>G (p.Ter507Glu)	RIC3, TUB	Single nucleotide variant (stop lost)	not provided	GUncertain significance
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 condition	GUncertain significance
Select item 2634561	NM_177972.3(TUB):c.92G>A (p.Arg31Gln)	TUB (R31Q +1 more)	Single nucleotide variant (missense variant)	TUB-related condition	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 condition	GUncertain significance
Select item 2634136	NM_177972.3(TUB):c.176G>A (p.Arg59Gln)	TUB (R114Q +1 more)	Single nucleotide variant (missense variant)	TUB-related condition	GUncertain significance
Select item 2633493	NM_177972.3(TUB):c.71A>G (p.Gln24Arg)	TUB (Q24R +1 more)	Single nucleotide variant (missense variant)	TUB-related condition	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 condition	GUncertain significance
Select item 2629307	NM_177972.3(TUB):c.19T>G (p.Ser7Ala)	TUB (S7A)	Single nucleotide variant (missense variant +1 more)	TUB-related condition	GUncertain significance
Select item 2628531	NM_177972.3(TUB):c.508G>A (p.Ala170Thr)	TUB, RIC3 (A170T +1 more)	Single nucleotide variant (missense variant)	TUB-related condition	GUncertain significance
Select item 2557595	NM_177972.3(TUB):c.346G>A (p.Ala116Thr)	RIC3, TUB (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2502171	NM_177972.3(TUB):c.1425G>C (p.Glu475Asp)	RIC3, TUB (E475D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy and obesity	GUncertain significance
Select item 2485066	NM_177972.3(TUB):c.1248T>G (p.Asn416Lys)	RIC3, TUB (N471K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473581	NM_177972.3(TUB):c.1354G>A (p.Val452Met)	RIC3, TUB (V452M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424669	NC_000011.9:g.(?_8060421)_(8123166_?)dup	TUB	Duplication	not provided	GUncertain significance
Select item 2421413	NM_003320.5(TUB):c.1A>T (p.Met1Leu)	TUB (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417690	NM_177972.3(TUB):c.531C>T (p.Ser177=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related condition +1 more	GLikely benign
Select item 2323642	NM_177972.3(TUB):c.1226C>G (p.Thr409Arg)	RIC3, TUB (T409R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277980	NM_177972.3(TUB):c.1205G>A (p.Arg402His)	RIC3, TUB (R457H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259899	NM_177972.3(TUB):c.157G>T (p.Asp53Tyr)	TUB (D53Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180220	NM_003320.5(TUB):c.49G>T (p.Glu17Ter)	TUB (E17*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2176620	NM_177972.3(TUB):c.666T>G (p.Ala222=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167010	NM_177972.3(TUB):c.687+1GTGA[4]	RIC3, TUB	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 2155354	NM_177972.3(TUB):c.551C>T (p.Thr184Met)	RIC3, TUB (T239M +1 more)	Single nucleotide variant (missense variant)	TUB-related condition +1 more	GUncertain significance
Select item 2135014	NM_177972.3(TUB):c.1135T>C (p.Phe379Leu)	RIC3, TUB (F379L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133510	NM_177972.3(TUB):c.290G>A (p.Gly97Glu)	RIC3, TUB (G97E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2132297	NM_177972.3(TUB):c.644G>A (p.Ser215Asn)	RIC3, TUB (S215N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129838	NM_177972.3(TUB):c.777C>T (p.Ala259=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127256	NM_177972.3(TUB):c.1005C>G (p.Asn335Lys)	RIC3, TUB (N335K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124771	NM_177972.3(TUB):c.632C>T (p.Ser211Phe)	RIC3, TUB (S211F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117327	NM_177972.3(TUB):c.1065C>T (p.Ser355=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117160	NM_177972.3(TUB):c.581T>A (p.Met194Lys)	RIC3, TUB (M194K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117010	NM_177972.3(TUB):c.1387+12T>C	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113635	NM_177972.3(TUB):c.687+10_687+11del	RIC3, TUB	Deletion (intron variant)	not provided	GLikely benign
Select item 2111908	NM_177972.3(TUB):c.91-11_91-10del	TUB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2109714	NM_177972.3(TUB):c.39-18_39-16del	TUB	Deletion (intron variant)	not provided	GLikely benign
Select item 2109369	NM_177972.3(TUB):c.78G>C (p.Lys26Asn)	TUB (K81N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109253	NM_177972.3(TUB):c.565+6C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2107086	NM_177972.3(TUB):c.518G>A (p.Gly173Asp)	RIC3, TUB (G173D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102805	NM_003320.5(TUB):c.165C>T (p.Thr55=)	TUB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2101887	NM_177972.3(TUB):c.173G>A (p.Ser58Asn)	TUB (S113N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097727	NM_177972.3(TUB):c.901G>C (p.Gly301Arg)	RIC3, TUB (G301R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097596	NM_003320.5(TUB):c.196A>G (p.Ile66Val)	TUB (I66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096732	NM_177972.3(TUB):c.999G>A (p.Arg333=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2096660	NM_177972.3(TUB):c.518G>T (p.Gly173Val)	RIC3, TUB (G228V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092133	NM_177972.3(TUB):c.983A>G (p.Tyr328Cys)	RIC3, TUB (Y328C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088516	NM_003320.5(TUB):c.97C>T (p.Gln33Ter)	TUB (Q33*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2087678	NM_177972.3(TUB):c.826A>G (p.Met276Val)	RIC3, TUB (M276V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087331	NM_177972.3(TUB):c.1387+15C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082687	NM_177972.3(TUB):c.1116C>T (p.Tyr372=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2081594	NM_177972.3(TUB):c.185G>A (p.Arg62Gln)	TUB (R62Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 condition +1 more	GUncertain significance
Select item 2073738	NM_177972.3(TUB):c.566-3C>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2067500	NM_177972.3(TUB):c.1399G>C (p.Val467Leu)	RIC3, TUB (V522L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063659	NM_177972.3(TUB):c.374A>G (p.Lys125Arg)	RIC3, TUB (K125R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063652	NM_177972.3(TUB):c.687+14T>C	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060990	NM_177972.3(TUB):c.894C>T (p.Leu298=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057678	NM_177972.3(TUB):c.999-10T>C	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047537	NM_177972.3(TUB):c.1388-4C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045379	NM_177972.3(TUB):c.1388-6C>G	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2042183	NM_177972.3(TUB):c.1395C>T (p.Tyr465=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022650	NM_177972.3(TUB):c.540T>C (p.Asp180=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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