ClinVar for Gene (Select 6238) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234150	NM_001365613.2(RRBP1):c.1041T>C (p.Asn347=)	RRBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3156402	NM_001365613.2(RRBP1):c.1996G>C (p.Glu666Gln)	RRBP1 (E233Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156401	NM_001365613.2(RRBP1):c.1993G>A (p.Gly665Ser)	RRBP1 (G232S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156400	NM_001365613.2(RRBP1):c.494C>T (p.Ser165Leu)	RRBP1 (S165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156398	NM_001365613.2(RRBP1):c.455C>T (p.Ala152Val)	RRBP1 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156397	NM_001365613.2(RRBP1):c.3998G>T (p.Arg1333Leu)	RRBP1 (R1333L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156396	NM_001365613.2(RRBP1):c.3931C>T (p.Leu1311Phe)	RRBP1 (L1311F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156395	NM_001365613.2(RRBP1):c.3841C>T (p.Pro1281Ser)	RRBP1 (P1281S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156394	NM_001365613.2(RRBP1):c.3643G>A (p.Glu1215Lys)	RRBP1 (E782K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156393	NM_001365613.2(RRBP1):c.3512G>C (p.Arg1171Pro)	RRBP1 (R738P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156392	NM_001365613.2(RRBP1):c.3284C>T (p.Thr1095Met)	RRBP1 (T662M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156391	NM_001365613.2(RRBP1):c.3281C>T (p.Pro1094Leu)	RRBP1 (P661L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156390	NM_001365613.2(RRBP1):c.3224C>G (p.Ser1075Cys)	RRBP1 (S1075C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156389	NM_001365613.2(RRBP1):c.3113G>T (p.Cys1038Phe)	RRBP1 (C1038F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156388	NM_001365613.2(RRBP1):c.169G>A (p.Val57Ile)	RRBP1 (V57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156387	NM_001365613.2(RRBP1):c.2990C>G (p.Ser997Trp)	RRBP1 (S997W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156386	NM_001365613.2(RRBP1):c.2965C>T (p.Leu989Phe)	RRBP1 (L989F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156385	NM_001365613.2(RRBP1):c.2906C>T (p.Ala969Val)	RRBP1 (A536V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156384	NM_001365613.2(RRBP1):c.2776G>A (p.Glu926Lys)	RRBP1 (E493K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156382	NM_001365613.2(RRBP1):c.2364G>C (p.Glu788Asp)	RRBP1 (E788D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2652218	NM_001365613.2(RRBP1):c.1116T>C (p.Ala372=)	RRBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652217	NM_001365613.2(RRBP1):c.1140A>G (p.Lys380=)	RRBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652216	NM_001365613.2(RRBP1):c.1212T>G (p.Gly404=)	RRBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652215	NM_001365613.2(RRBP1):c.1230A>G (p.Lys410=)	RRBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652214	NM_001365613.2(RRBP1):c.1245C>T (p.Ala415=)	RRBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652213	NM_001365613.2(RRBP1):c.1917C>T (p.Pro639=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652212	NM_001365613.2(RRBP1):c.1956G>A (p.Thr652=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652211	NM_001365613.2(RRBP1):c.2916C>G (p.Ala972=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619375	NM_001365613.2(RRBP1):c.3616G>A (p.Glu1206Lys)	RRBP1 (E773K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598317	NM_001365613.2(RRBP1):c.2909G>A (p.Arg970Gln)	RRBP1 (R970Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2537974	NM_001365613.2(RRBP1):c.4096G>A (p.Ala1366Thr)	RRBP1 (A1366T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537973	NM_001365613.2(RRBP1):c.3031G>C (p.Glu1011Gln)	RRBP1 (E578Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523353	NM_001365613.2(RRBP1):c.2180A>T (p.Asn727Ile)	RRBP1 (N294I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514996	NM_001365613.2(RRBP1):c.3953C>G (p.Ala1318Gly)	RRBP1 (A885G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514611	NM_001365613.2(RRBP1):c.2962C>T (p.Arg988Cys)	RRBP1 (R555C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513880	NM_001365613.2(RRBP1):c.3484G>A (p.Ala1162Thr)	RRBP1 (A729T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510534	NM_001365613.2(RRBP1):c.3155C>T (p.Ser1052Leu)	RRBP1 (S1052L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485621	NM_001365613.2(RRBP1):c.3457G>A (p.Glu1153Lys)	RRBP1 (E720K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485354	NM_001365613.2(RRBP1):c.2969A>G (p.Lys990Arg)	RRBP1 (K557R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473989	NM_001365613.2(RRBP1):c.2618A>G (p.His873Arg)	RRBP1 (H440R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473368	NM_001365613.2(RRBP1):c.397G>T (p.Ala133Ser)	RRBP1 (A133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465991	NM_001365613.2(RRBP1):c.1927G>A (p.Asp643Asn)	RRBP1 (D643N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465954	NM_001365613.2(RRBP1):c.3629C>T (p.Ala1210Val)	RRBP1 (A1210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465282	NM_001365613.2(RRBP1):c.3250G>A (p.Glu1084Lys)	RRBP1 (E1084K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459144	NM_001365613.2(RRBP1):c.2800G>A (p.Glu934Lys)	RRBP1 (E501K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458027	NM_001365613.2(RRBP1):c.3512G>A (p.Arg1171Gln)	RRBP1 (R1171Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427149	NC_000020.10:g.(?_17587682)_(18168103_?)del	PET117, MGME1 +6 more	Deletion	not provided	GPathogenic
Select item 2396997	NM_001365613.2(RRBP1):c.2464G>A (p.Ala822Thr)	RRBP1 (A389T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393112	NM_001365613.2(RRBP1):c.2923G>A (p.Val975Ile)	RRBP1 (V975I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391543	NM_001365613.2(RRBP1):c.299T>C (p.Val100Ala)	RRBP1 (V100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378418	NM_001365613.2(RRBP1):c.3850G>A (p.Glu1284Lys)	RRBP1 (E1284K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374692	NM_001365613.2(RRBP1):c.3311C>T (p.Ala1104Val)	RRBP1 (A671V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363400	NM_001365613.2(RRBP1):c.3053A>G (p.Asn1018Ser)	RRBP1 (N585S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362366	NM_001365613.2(RRBP1):c.3323C>T (p.Ser1108Leu)	RRBP1 (S1108L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361194	NM_001365613.2(RRBP1):c.1990G>A (p.Glu664Lys)	RRBP1 (E664K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359983	NM_001365613.2(RRBP1):c.2272G>A (p.Val758Met)	RRBP1 (V758M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355820	NM_001365613.2(RRBP1):c.3170G>A (p.Cys1057Tyr)	RRBP1 (C1057Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350785	NM_001365613.2(RRBP1):c.3593C>T (p.Thr1198Met)	RRBP1 (T1198M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347027	NM_001365613.2(RRBP1):c.137G>A (p.Arg46His)	RRBP1 (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342559	NM_001365613.2(RRBP1):c.3947A>G (p.Glu1316Gly)	RRBP1 (E1316G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342307	NM_001365613.2(RRBP1):c.4177G>A (p.Glu1393Lys)	RRBP1 (E1393K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327145	NM_001365613.2(RRBP1):c.3397A>G (p.Ser1133Gly)	RRBP1 (S1133G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290755	NM_001365613.2(RRBP1):c.2369G>A (p.Gly790Asp)	RRBP1 (G790D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280971	NM_001365613.2(RRBP1):c.1877A>G (p.Lys626Arg)	RRBP1 (K196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277282	NM_001365613.2(RRBP1):c.3052A>T (p.Asn1018Tyr)	RRBP1 (N1018Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271378	NM_001365613.2(RRBP1):c.2747C>G (p.Ala916Gly)	RRBP1 (A916G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269935	NM_001365613.2(RRBP1):c.1969G>A (p.Val657Ile)	RRBP1 (V657I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267821	NM_001365613.2(RRBP1):c.3061C>T (p.Arg1021Trp)	RRBP1 (R1021W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258677	NM_001365613.2(RRBP1):c.3028G>A (p.Val1010Ile)	RRBP1 (V577I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247948	NM_001365613.2(RRBP1):c.272A>G (p.Asn91Ser)	RRBP1 (N91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242384	NM_001365613.2(RRBP1):c.3445G>A (p.Val1149Met)	RRBP1 (V1149M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238505	NM_001365613.2(RRBP1):c.2695G>A (p.Ala899Thr)	RRBP1 (A466T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234701	NM_001365613.2(RRBP1):c.2762A>G (p.Lys921Arg)	RRBP1 (K921R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214674	NM_001365613.2(RRBP1):c.245A>G (p.Lys82Arg)	RRBP1 (K82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211332	NM_001365613.2(RRBP1):c.424A>G (p.Lys142Glu)	RRBP1 (K142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208394	NM_001365613.2(RRBP1):c.2051C>T (p.Thr684Ile)	RRBP1 (T251I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207119	NM_001365613.2(RRBP1):c.3793G>A (p.Val1265Ile)	RRBP1 (V1265I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	BANF2, BFSP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 783859	NM_001365613.2(RRBP1):c.3531C>T (p.Leu1177=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 781544	NM_001365613.2(RRBP1):c.3867+8C>T	RRBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777535	NM_001365613.2(RRBP1):c.2131A>G (p.Thr711Ala)	RRBP1 (T278A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777534	NM_001365613.2(RRBP1):c.3295C>T (p.His1099Tyr)	RRBP1 (H1099Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777520	NM_001365613.2(RRBP1):c.3414G>A (p.Thr1138=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773087	NM_001365613.2(RRBP1):c.2991G>A (p.Ser997=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737229	NM_001365613.2(RRBP1):c.2217C>G (p.Ala739=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735992	NM_001365613.2(RRBP1):c.352G>A (p.Val118Ile)	RRBP1 (V118I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730359	NM_001365613.2(RRBP1):c.3862G>A (p.Val1288Ile)	RRBP1 (V855I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727272	NM_001365613.2(RRBP1):c.2613G>A (p.Ala871=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726925	NM_001365613.2(RRBP1):c.2064C>T (p.Ala688=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726924	NM_001365613.2(RRBP1):c.3573G>A (p.Ser1191=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712138	NM_001365613.2(RRBP1):c.3940G>A (p.Glu1314Lys)	RRBP1 (E1314K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710867	NM_001365613.2(RRBP1):c.4106G>A (p.Arg1369Lys)	RRBP1 (R1369K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710613	NM_001365613.2(RRBP1):c.3936G>A (p.Thr1312=)	RRBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709322	NM_001365613.2(RRBP1):c.2928+10C>T	RRBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709167	NM_001365613.2(RRBP1):c.1915C>T (p.Pro639Ser)	RRBP1 (P206S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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