RAB33B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 60200	GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1	ELF2, LINC00498 +48 more	Copy number loss	See cases	GUncertain significance
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 347547	NM_031296.2(RAB33B):c.-368C>T	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347548	NM_031296.2(RAB33B):c.-363G>A	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347549	NM_031296.2(RAB33B):c.-348G>C	RAB33B, RAB33B-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347550	NM_031296.2(RAB33B):c.-342T>C	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347551	NM_031296.2(RAB33B):c.-255C>T	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347552	NM_031296.2(RAB33B):c.-205G>C	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign
Select item 347553	NM_031296.2(RAB33B):c.-193G>T	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347554	NM_031296.2(RAB33B):c.-167A>C	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347555	NM_031296.2(RAB33B):c.-164G>A	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GLikely benign
Select item 347556	NM_031296.2(RAB33B):c.-163C>T	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347557	NM_031296.2(RAB33B):c.-160G>A	RAB33B, RAB33B-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
Select item 347558	NM_031296.3(RAB33B):c.-54C>G	LOC129993109, RAB33B	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia 2 +1 more	GBenign
Select item 347559	NM_031296.3(RAB33B):c.-48C>T	LOC129993109, RAB33B	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347560	NM_031296.3(RAB33B):c.-36C>T	RAB33B	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia 2	GBenign
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 1957990	NM_031296.3(RAB33B):c.42G>T (p.Ser14=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425562	NM_031296.3(RAB33B):c.48_55del (p.Gly17fs)	RAB33B (G17fs)	Deletion (frameshift variant)	Smith-McCort dysplasia 2	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 2051297	NM_031296.3(RAB33B):c.78G>C (p.Leu26Phe)	RAB33B (L26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2475828	NM_031296.3(RAB33B):c.94C>T (p.Arg32Cys)	RAB33B (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1416837	NM_031296.3(RAB33B):c.97A>C (p.Ile33Leu)	RAB33B (I33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1502074	NM_031296.3(RAB33B):c.127A>C (p.Asn43His)	RAB33B (N43H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347561	NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser)	RAB33B (N43S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 347562	NM_031296.3(RAB33B):c.135C>G (p.Gly45=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 50230	NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln)	RAB33B (K46Q)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GLikely pathogenic
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 1418386	NM_031296.3(RAB33B):c.145C>G (p.Leu49Val)	RAB33B (L49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1347306	NM_031296.3(RAB33B):c.178G>T (p.Asp60Tyr)	LOC129993110, RAB33B (D60Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275811	NM_031296.3(RAB33B):c.186_192del (p.Glu63fs)	LOC129993110, RAB33B (E63fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 599277	NM_031296.3(RAB33B):c.186del (p.Glu63fs)	LOC129993110, RAB33B (E63fs)	Deletion (frameshift variant)	Smith-McCort dysplasia 2	GPathogenic/Likely pathogenic
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 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 1275812	NM_031296.3(RAB33B):c.197_199del (p.Ile66_Gly67delinsArg)	LOC129993110, RAB33B	Deletion (inframe_indel)	not provided	GPathogenic
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 425560	NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter)	LOC129993110, RAB33B (R71*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
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 1421333	NM_031296.3(RAB33B):c.242G>C (p.Arg81Pro)	RAB33B (R81P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547452	NM_031296.3(RAB33B):c.246C>T (p.Ile82=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347563	NM_031296.3(RAB33B):c.249+10T>C	RAB33B	Single nucleotide variant (intron variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 1912955	NM_031296.3(RAB33B):c.250-20C>T	RAB33B	Single nucleotide variant (intron 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 1098420	NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter)	RAB33B (Q85*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
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 1098422	NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter)	RAB33B (R94*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
Select item 2030635	NM_031296.3(RAB33B):c.333C>T (p.Val111=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347564	NM_031296.3(RAB33B):c.336C>T (p.Phe112=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2027669	NM_031296.3(RAB33B):c.360T>C (p.Ala120=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425561	NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)	RAB33B (F122S)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GConflicting classifications of pathogenicity
Select item 1553668	NM_031296.3(RAB33B):c.375A>G (p.Leu125=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978181	NM_031296.3(RAB33B):c.391G>T (p.Glu131Ter)	RAB33B (E131*)	Single nucleotide variant (nonsense)	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 1520979	NM_031296.3(RAB33B):c.395G>T (p.Cys132Phe)	RAB33B (C132F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2321410	NM_031296.3(RAB33B):c.403C>T (p.His135Tyr)	RAB33B (H135Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 347565	NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys)	RAB33B (N139K)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2 +1 more	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 2406269	NM_031296.3(RAB33B):c.427C>T (p.Arg143Trp)	RAB33B (R143W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 347566	NM_031296.3(RAB33B):c.432T>C (p.Ile144=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 50231	NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys)	RAB33B (N148K)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	GPathogenic
Select item 1388394	NM_031296.3(RAB33B):c.455T>A (p.Leu152Ter)	RAB33B (L152*)	Single nucleotide variant (nonsense)	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 1591352	NM_031296.3(RAB33B):c.480A>G (p.Thr160=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425563	NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter)	RAB33B (Q164*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	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 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 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 1928020	NM_031296.3(RAB33B):c.546C>A (p.Pro182=)	RAB33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347567	NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp)	RAB33B (N185D)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia 2	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 2266985	NM_031296.3(RAB33B):c.562G>A (p.Val188Met)	RAB33B (V188M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347695	NM_031296.3(RAB33B):c.573A>G (p.Ile191Met)	RAB33B (I191M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 902855	NM_031296.3(RAB33B):c.613T>C (p.Leu205=)	RAB33B	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia 2	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 347568	NM_031296.3(RAB33B):c.677C>T (p.Thr226Met)	RAB33B (T226M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1969139	NM_031296.3(RAB33B):c.681C>T (p.Cys227=)	RAB33B	Single nucleotide variant (synonymous 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 902857	NM_031296.3(RAB33B):c.*1A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347569	NM_031296.3(RAB33B):c.*118T>G	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 902859	NM_031296.3(RAB33B):c.*161C>T	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance
Select item 347570	NM_031296.3(RAB33B):c.*219A>G	RAB33B	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia 2	GUncertain significance

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