RIC3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 1548332	NM_177972.3(TUB):c.254-14T>C	RIC3, TUB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3353944	NM_177972.3(TUB):c.254-7T>C	RIC3, TUB	Single nucleotide variant (non-coding transcript variant +1 more)	TUB-related disorder	GLikely benign
Select item 3353561	NM_177972.3(TUB):c.254-4G>A	RIC3, TUB	Single nucleotide variant (non-coding transcript variant +1 more)	TUB-related disorder	GLikely benign
Select item 1070074	NM_177972.3(TUB):c.256C>T (p.Gln86Ter)	RIC3, TUB (Q141* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1997404	NM_177972.3(TUB):c.262G>A (p.Ala88Thr)	RIC3, TUB (A88T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986566	NM_177972.3(TUB):c.263C>T (p.Ala88Val)	TUB, RIC3 (A143V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961399	NM_177972.3(TUB):c.264C>T (p.Ala88=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	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 939851	NM_177972.3(TUB):c.274G>A (p.Ala92Thr)	RIC3, TUB (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1383486	NM_177972.3(TUB):c.278G>T (p.Ser93Ile)	RIC3, TUB (S148I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1041066	NM_177972.3(TUB):c.278G>A (p.Ser93Asn)	RIC3, TUB (S148N +1 more)	Single nucleotide variant (missense variant +1 more)	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)	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 1503356	NM_177972.3(TUB):c.293C>G (p.Ala98Gly)	RIC3, TUB (A98G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 834503	NM_177972.3(TUB):c.293C>T (p.Ala98Val)	RIC3, TUB (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy and obesity +2 more	GUncertain significance
Select item 762503	NM_177972.3(TUB):c.297G>A (p.Thr99=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 provided +1 more	GUncertain significance
Select item 1907236	NM_177972.3(TUB):c.299G>A (p.Arg100His)	TUB, RIC3 (R155H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1000325	NM_177972.3(TUB):c.304A>G (p.Thr102Ala)	RIC3, TUB (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965402	NM_177972.3(TUB):c.305C>A (p.Thr102Lys)	RIC3, TUB (T157K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1464082	NM_177972.3(TUB):c.305C>T (p.Thr102Ile)	RIC3, TUB (T102I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1017840	NM_177972.3(TUB):c.316T>A (p.Ser106Thr)	RIC3, TUB (S106T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719156	NM_177972.3(TUB):c.324G>A (p.Lys108=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1973019	NM_177972.3(TUB):c.335C>T (p.Ala112Val)	RIC3, TUB (A112V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 750249	NM_177972.3(TUB):c.336G>A (p.Ala112=)	TUB, RIC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405861	NM_177972.3(TUB):c.338C>T (p.Ala113Val)	RIC3, TUB (A168V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3351004	NM_177972.3(TUB):c.345A>C (p.Thr115=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	TUB-related disorder	GLikely benign
Select item 2557595	NM_177972.3(TUB):c.346G>A (p.Ala116Thr)	RIC3, TUB (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1056664	NM_177972.3(TUB):c.350G>A (p.Gly117Glu)	RIC3, TUB (G117E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 provided +2 more	GUncertain significance
Select item 1083846	NM_177972.3(TUB):c.353G>A (p.Gly118Asp)	RIC3, TUB (G118D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1605184	NM_177972.3(TUB):c.354C>A (p.Gly118=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	not provided +1 more	GUncertain significance
Select item 1931261	NM_177972.3(TUB):c.360_361inv (p.Gly121Ser)	RIC3, TUB (G176S +1 more)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 1169389	NM_177972.3(TUB):c.360T>C (p.Gly120=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	not specified +2 more	GUncertain significance
Select item 1906665	NM_177972.3(TUB):c.366C>T (p.Ala122=)	RIC3, TUB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 specified +1 more	GConflicting classifications of pathogenicity
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 1426537	NM_177972.3(TUB):c.373A>T (p.Lys125Ter)	RIC3, TUB (K125* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 939312	NM_177972.3(TUB):c.373A>G (p.Lys125Glu)	RIC3, TUB (K180E +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 1367377	NM_177972.3(TUB):c.376_378del (p.Glu126del)	RIC3, TUB (E181del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1044486	NM_177972.3(TUB):c.379AAG[1] (p.Lys128del)	RIC3, TUB (K128del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1147025	NM_177972.3(TUB):c.378G>A (p.Glu126=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509237	NM_177972.3(TUB):c.394A>G (p.Lys132Glu)	RIC3, TUB (K187E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989129	NM_177972.3(TUB):c.397+14C>G	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1684222	NM_177972.3(TUB):c.397+26C>G	RIC3, TUB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1478057	NM_177972.3(TUB):c.398-18C>T	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670746	NM_177972.3(TUB):c.398-17G>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656282	NM_177972.3(TUB):c.398-11G>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012436	NM_177972.3(TUB):c.398-10T>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1371398	NM_177972.3(TUB):c.398-6C>A	RIC3, TUB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 852997	NM_177972.3(TUB):c.406G>A (p.Gly136Arg)	RIC3, TUB (G136R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1989593	NM_177972.3(TUB):c.407G>A (p.Gly136Glu)	RIC3, TUB (G136E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1461339	NM_177972.3(TUB):c.421G>C (p.Ala141Pro)	RIC3, TUB (A141P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014144	NM_177972.3(TUB):c.422C>T (p.Ala141Val)	RIC3, TUB (A141V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934231	NM_177972.3(TUB):c.427G>C (p.Asp143His)	RIC3, TUB (D143H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3184703	NM_177972.3(TUB):c.428A>T (p.Asp143Val)	RIC3, TUB (D198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1086638	NM_177972.3(TUB):c.441C>T (p.Ala147=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1020820	NM_177972.3(TUB):c.451G>A (p.Val151Met)	RIC3, TUB (V151M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1656217	NM_177972.3(TUB):c.456G>A (p.Gln152=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1138551	NM_177972.3(TUB):c.465T>C (p.Thr155=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446485	NM_177972.3(TUB):c.469G>C (p.Gly157Arg)	RIC3, TUB (G157R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1114585	NM_177972.3(TUB):c.483C>T (p.His161=)	TUB, RIC3	Single nucleotide variant (synonymous variant)	not provided	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 849107	NM_177972.3(TUB):c.485C>T (p.Ala162Val)	RIC3, TUB (A162V +1 more)	Single nucleotide variant (missense variant)	not provided	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)	not provided	GLikely benign
Select item 1372368	NM_177972.3(TUB):c.493G>A (p.Ala165Thr)	RIC3, TUB (A220T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105493	NM_177972.3(TUB):c.495A>G (p.Ala165=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507297	NM_177972.3(TUB):c.502_504dup (p.Thr168dup)	RIC3, TUB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1435966	NM_177972.3(TUB):c.501G>C (p.Glu167Asp)	RIC3, TUB (E167D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486107	NM_177972.3(TUB):c.503C>T (p.Thr168Met)	RIC3, TUB (T223M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2785174	NM_177972.3(TUB):c.504G>T (p.Thr168=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	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 1572609	NM_177972.3(TUB):c.516G>A (p.Gly172=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479662	NM_177972.3(TUB):c.517G>A (p.Gly173Ser)	RIC3, TUB (G173S +1 more)	Single nucleotide variant (missense 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 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 1144800	NM_177972.3(TUB):c.519C>T (p.Gly173=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351443	NM_177972.3(TUB):c.520G>A (p.Glu174Lys)	RIC3, TUB (E229K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412006	NM_177972.3(TUB):c.523C>T (p.Arg175Trp)	RIC3, TUB (R175W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 955529	NM_177972.3(TUB):c.524G>A (p.Arg175Gln)	RIC3, TUB (R175Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2417690	NM_177972.3(TUB):c.531C>T (p.Ser177=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 960673	NM_177972.3(TUB):c.532G>A (p.Gly178Arg)	RIC3, TUB (G178R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357444	NM_177972.3(TUB):c.537G>A (p.Gln179=)	RIC3, TUB	Single nucleotide variant (synonymous variant)	TUB-related disorder	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
Select item 1489107	NM_177972.3(TUB):c.540T>G (p.Asp180Glu)	RIC3, TUB (D180E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713961	NM_177972.3(TUB):c.542T>A (p.Leu181His)	RIC3, TUB (L181H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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