ClinVar for Gene (Select 83452) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064853	NM_031296.3(RAB33B):c.118G>T (p.Gly40Cys)	RAB33B (G40C)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3000148	NM_031296.3(RAB33B):c.66C>T (p.Ala22=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972635	NM_031296.3(RAB33B):c.250-18T>C	RAB33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693860	NM_031296.3(RAB33B):c.186C>G (p.Thr62=)	LOC129993110, RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2687888	NM_031296.3(RAB33B):c.133G>A (p.Gly45Ser)	RAB33B (G45S)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2475828	NM_031296.3(RAB33B):c.94C>T (p.Arg32Cys)	RAB33B (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406269	NM_031296.3(RAB33B):c.427C>T (p.Arg143Trp)	RAB33B (R143W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386929	NM_031296.3(RAB33B):c.14T>C (p.Met5Thr)	RAB33B (M5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321410	NM_031296.3(RAB33B):c.403C>T (p.His135Tyr)	RAB33B (H135Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305820	NM_031296.3(RAB33B):c.218G>T (p.Arg73Leu)	LOC129993110, RAB33B (R73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266985	NM_031296.3(RAB33B):c.562G>A (p.Val188Met)	RAB33B (V188M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174978	NM_031296.3(RAB33B):c.671C>T (p.Ala224Val)	RAB33B (A224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074628	NM_031296.3(RAB33B):c.561T>C (p.His187=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051297	NM_031296.3(RAB33B):c.78G>C (p.Leu26Phe)	RAB33B (L26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030635	NM_031296.3(RAB33B):c.333C>T (p.Val111=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027937	NM_031296.3(RAB33B):c.83C>T (p.Pro28Leu)	RAB33B (P28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027669	NM_031296.3(RAB33B):c.360T>C (p.Ala120=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998670	NM_031296.3(RAB33B):c.174C>A (p.Phe58Leu)	LOC129993110, RAB33B (F58L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986344	NM_031296.3(RAB33B):c.416A>G (p.Asn139Ser)	RAB33B (N139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978181	NM_031296.3(RAB33B):c.391G>T (p.Glu131Ter)	RAB33B (E131*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1969139	NM_031296.3(RAB33B):c.681C>T (p.Cys227=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957990	NM_031296.3(RAB33B):c.42G>T (p.Ser14=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928020	NM_031296.3(RAB33B):c.546C>A (p.Pro182=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912955	NM_031296.3(RAB33B):c.250-20C>T	RAB33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679887	NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr)	RAB33B	Single nucleotide variant (stop lost)	Smith-McCort dysplasia 2	GUncertain significance
Select item 1663527	NM_031296.3(RAB33B):c.531G>C (p.Thr177=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1617767	NM_031296.3(RAB33B):c.537T>C (p.Ala179=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591352	NM_031296.3(RAB33B):c.480A>G (p.Thr160=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553668	NM_031296.3(RAB33B):c.375A>G (p.Leu125=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547452	NM_031296.3(RAB33B):c.246C>T (p.Ile82=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1520979	NM_031296.3(RAB33B):c.395G>T (p.Cys132Phe)	RAB33B (C132F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516088	NM_031296.3(RAB33B):c.462T>A (p.Ser154Arg)	RAB33B (S154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502074	NM_031296.3(RAB33B):c.127A>C (p.Asn43His)	RAB33B (N43H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477762	NM_031296.3(RAB33B):c.394T>C (p.Cys132Arg)	RAB33B (C132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443929	NC_000004.11:g.(?_140222932)_(140394280_?)del	NAA15, NDUFC1 +1 more	Deletion	not provided	GUncertain significance
Select item 1441485	NC_000004.11:g.(?_140375350)_(140375618_?)dup	RAB33B	Duplication	not provided	GUncertain significance
Select item 1421333	NM_031296.3(RAB33B):c.242G>C (p.Arg81Pro)	RAB33B (R81P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418386	NM_031296.3(RAB33B):c.145C>G (p.Leu49Val)	RAB33B (L49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416837	NM_031296.3(RAB33B):c.97A>C (p.Ile33Leu)	RAB33B (I33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411236	NM_031296.3(RAB33B):c.421A>G (p.Ile141Val)	RAB33B (I141V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388394	NM_031296.3(RAB33B):c.455T>A (p.Leu152Ter)	RAB33B (L152*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1384265	NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala)	LOC129993110, RAB33B (T65A)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2 +1 more	GUncertain significance
Select item 1357538	NM_031296.3(RAB33B):c.337G>A (p.Val113Met)	RAB33B (V113M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347695	NM_031296.3(RAB33B):c.573A>G (p.Ile191Met)	RAB33B (I191M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347306	NM_031296.3(RAB33B):c.178G>T (p.Asp60Tyr)	LOC129993110, RAB33B (D60Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340411	GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1	CLGN, ELF2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1275812	NM_031296.3(RAB33B):c.197_199del (p.Ile66_Gly67delinsArg)	LOC129993110, RAB33B	Deletion (inframe_indel)	not provided	GPathogenic
Select item 1275811	NM_031296.3(RAB33B):c.186_192del (p.Glu63fs)	LOC129993110, RAB33B (E63fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1098422	NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter)	RAB33B (R94*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 1098421	NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter)	RAB33B (C48*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 1098420	NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter)	RAB33B (Q85*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 1048093	NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)	RAB33B (Q134*)	Single nucleotide variant (nonsense)	Skeletal dysplasia +1 more	GPathogenic
Select item 902921	NM_031296.3(RAB33B):c.*2271A>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902920	NM_031296.3(RAB33B):c.*2130G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902919	NM_031296.3(RAB33B):c.*1949A>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902918	NM_031296.3(RAB33B):c.*1925A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902859	NM_031296.3(RAB33B):c.*161C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902858	NM_031296.3(RAB33B):c.*146T>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902857	NM_031296.3(RAB33B):c.*1A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902856	NM_031296.3(RAB33B):c.678G>A (p.Thr226=)	RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 902855	NM_031296.3(RAB33B):c.613T>C (p.Leu205=)	RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902033	NM_031296.3(RAB33B):c.*1455A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902032	NM_031296.3(RAB33B):c.*1322C>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 902031	NM_031296.3(RAB33B):c.*1235G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901956	NM_031296.3(RAB33B):c.600G>A (p.Lys200=)	RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901955	NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)	RAB33B (T177M)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 901473	NM_031296.3(RAB33B):c.*2754C>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901472	NM_031296.3(RAB33B):c.*2722T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 901411	NM_031296.3(RAB33B):c.*1157T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901410	NM_031296.3(RAB33B):c.*924G>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901409	NM_031296.3(RAB33B):c.*780T>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 901355	NM_031296.3(RAB33B):c.201G>A (p.Gly67=)	LOC129993110, RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900367	NM_031296.3(RAB33B):c.*2548T>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 900366	NM_031296.3(RAB33B):c.*2522A>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900365	NM_031296.3(RAB33B):c.*2391C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900364	NM_031296.3(RAB33B):c.*2359T>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900363	NM_031296.3(RAB33B):c.*2355T>A	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 900307	NM_031296.3(RAB33B):c.*576T>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 900306	NM_031296.3(RAB33B):c.*513C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GLikely benign
Select item 900305	NM_031296.3(RAB33B):c.*425T>C	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 814611	GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3	NDUFC1, NAA15 +4 more	Copy number gain	not provided	GLikely benign
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 814609	GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1	MGAT4D, SETD7 +14 more	Copy number loss	not provided	GPathogenic
Select item 809686	NM_031296.3(RAB33B):c.502G>A (p.Asp168Asn)	RAB33B (D168N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752500	NM_031296.3(RAB33B):c.96C>G (p.Arg32=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747193	NM_031296.3(RAB33B):c.258A>G (p.Leu86=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 685180	GRCh37/hg19 4q31.1(chr4:140333549-140417276)x3	RAB33B	Copy number gain	not provided	GUncertain significance

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