Related gene-specific medical variations for Gene (Select 83452) - ClinVar

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Links from Gene

Items: 26

	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 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 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 1998670	NM_031296.3(RAB33B):c.174C>A (p.Phe58Leu)	LOC129993110, RAB33B (F58L)	Single nucleotide variant (missense variant)	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 1347306	NM_031296.3(RAB33B):c.178G>T (p.Asp60Tyr)	RAB33B, LOC129993110 (D60Y)	Single nucleotide variant (missense variant)	not provided	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 1275811	NM_031296.3(RAB33B):c.186_192del (p.Glu63fs)	LOC129993110, RAB33B (E63fs)	Deletion (frameshift variant)	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 685180	GRCh37/hg19 4q31.1(chr4:140333549-140417276)x3	RAB33B	Copy number gain	not provided	GUncertain significance
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 425560	NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter)	LOC129993110, RAB33B (R71*)	Single nucleotide variant (nonsense)	Smith-McCort dysplasia 2	GPathogenic
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 347558	NM_031296.3(RAB33B):c.-54C>G	LOC129993109, RAB33B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 347557	NM_031296.2(RAB33B):c.-160G>A	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance
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 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 347554	NM_031296.2(RAB33B):c.-167A>C	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GUncertain significance
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 347552	NM_031296.2(RAB33B):c.-205G>C	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia +1 more	GBenign
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 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 347549	NM_031296.2(RAB33B):c.-348G>C	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 347547	NM_031296.2(RAB33B):c.-368C>T	LOC129993109, RAB33B +1 more	Single nucleotide variant (non-coding transcript variant)	Smith-McCort dysplasia	GUncertain significance

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Links from Gene

Items: 26