Rab33b Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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144 records found for search term Rab33b

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28881742	CV890121	single nucleotide variant	NM_031296.3(RAB33B):c.*1A>G	Smith-McCort dysplasia 2 [RCV001149723]	uncertain significance	4	139473127	139473127	Human	1	name
11590258	CV292267	single nucleotide variant	NM_031296.3(RAB33B):c.-54C>G	Smith-McCort dysplasia 2 [RCV000317326]\|not provided [RCV001636969]	benign	4	139454142	139454142	Human	1	name
11593920	CV292268	single nucleotide variant	NM_031296.3(RAB33B):c.-48C>T	Smith-McCort dysplasia 2 [RCV000353419]	uncertain significance	4	139454148	139454148	Human	1	name
11583620	CV293718	single nucleotide variant	NM_031296.3(RAB33B):c.-36C>T	Smith-McCort dysplasia 2 [RCV000267906]	benign\|likely benign	4	139454160	139454160	Human	1	name
11650014	CV292256	single nucleotide variant	NM_031296.2(RAB33B):c.-348G>C	Smith-McCort dysplasia [RCV000290565]	uncertain significance	4	139453848	139453848	Human	1	name
11590000	CV292257	single nucleotide variant	NM_031296.2(RAB33B):c.-205G>C	Smith-McCort dysplasia [RCV000315111]\|not provided [RCV001672637]	benign	4	139453991	139453991	Human	1	name
11660744	CV292263	single nucleotide variant	NM_031296.2(RAB33B):c.-193G>T	Smith-McCort dysplasia [RCV000369743]	uncertain significance	4	139454003	139454003	Human	1	name
11597925	CV292264	single nucleotide variant	NM_031296.2(RAB33B):c.-167A>C	Smith-McCort dysplasia [RCV000399338]\|not provided [RCV004695775]	uncertain significance	4	139454029	139454029	Human	1	name
11588794	CV292269	single nucleotide variant	NM_031296.3(RAB33B):c.*595G>A	Smith-McCort dysplasia 2 [RCV000305646]\|not provided [RCV004710972]	likely benign	4	139473721	139473721	Human	1	name
11583340	CV292273	single nucleotide variant	NM_031296.3(RAB33B):c.*701G>T	Smith-McCort dysplasia 2 [RCV000265826]	uncertain significance	4	139473827	139473827	Human	1	name
11652031	CV292279	single nucleotide variant	NM_031296.3(RAB33B):c.*764G>A	Smith-McCort dysplasia 2 [RCV000302596]	uncertain significance	4	139473890	139473890	Human	1	name
11595109	CV292281	single nucleotide variant	NM_031296.3(RAB33B):c.*776C>T	Smith-McCort dysplasia 2 [RCV000366691]	uncertain significance	4	139473902	139473902	Human	1	name
11597687	CV293731	single nucleotide variant	NM_031296.3(RAB33B):c.*254A>G	Smith-McCort dysplasia 2 [RCV000396749]\|not provided [RCV001718742]	benign\|likely benign	4	139473380	139473380	Human	1	name
11651620	CV293735	single nucleotide variant	NM_031296.3(RAB33B):c.*494A>C	Smith-McCort dysplasia 2 [RCV000299949]	uncertain significance	4	139473620	139473620	Human	1	name
11592188	CV293738	single nucleotide variant	NM_031296.3(RAB33B):c.*543C>T	Smith-McCort dysplasia 2 [RCV000336219]\|not provided [RCV004710971]	likely benign	4	139473669	139473669	Human	1	name
11657211	CV297000	single nucleotide variant	NM_031296.2(RAB33B):c.-368C>T	Smith-McCort dysplasia [RCV000339748]	uncertain significance	4	139453828	139453828	Human	1	name
11657931	CV297001	single nucleotide variant	NM_031296.2(RAB33B):c.-342T>C	Smith-McCort dysplasia [RCV000345423]	uncertain significance	4	139453854	139453854	Human	1	name
11663514	CV297011	single nucleotide variant	NM_031296.2(RAB33B):c.-255C>T	Smith-McCort dysplasia [RCV000396529]	uncertain significance	4	139453941	139453941	Human	1	name
11582795	CV297012	single nucleotide variant	NM_031296.2(RAB33B):c.-160G>A	Smith-McCort dysplasia [RCV000261851]	uncertain significance	4	139454036	139454036	Human	1	name
11650770	CV297019	single nucleotide variant	NM_031296.3(RAB33B):c.*118T>G	Smith-McCort dysplasia 2 [RCV000294799]	uncertain significance	4	139473244	139473244	Human	1	name
11598049	CV297020	single nucleotide variant	NM_031296.3(RAB33B):c.*590T>C	Smith-McCort dysplasia 2 [RCV000400758]	likely benign	4	139473716	139473716	Human	1	name
11597476	CV297043	single nucleotide variant	NM_031296.2(RAB33B):c.-363G>A	Smith-McCort dysplasia [RCV000394880]	uncertain significance	4	139453833	139453833	Human	1	name
11589555	CV297046	single nucleotide variant	NM_031296.2(RAB33B):c.-164G>A	Smith-McCort dysplasia [RCV000311411]	likely benign	4	139454032	139454032	Human	1	name
11659344	CV297056	single nucleotide variant	NM_031296.2(RAB33B):c.-163C>T	Smith-McCort dysplasia [RCV000356865]	uncertain significance	4	139454033	139454033	Human	1	name
11658441	CV297070	single nucleotide variant	NM_031296.3(RAB33B):c.*219A>G	Smith-McCort dysplasia 2 [RCV000349107]	uncertain significance	4	139473345	139473345	Human	1	name
11659725	CV297071	single nucleotide variant	NM_031296.3(RAB33B):c.*632A>G	Smith-McCort dysplasia 2 [RCV000360534]	uncertain significance	4	139473758	139473758	Human	1	name
28881745	CV890122	single nucleotide variant	NM_031296.3(RAB33B):c.*146T>A	Smith-McCort dysplasia 2 [RCV001149724]	uncertain significance	4	139473272	139473272	Human	1	name
28881748	CV890123	single nucleotide variant	NM_031296.3(RAB33B):c.*161C>T	Smith-McCort dysplasia 2 [RCV001149725]	uncertain significance	4	139473287	139473287	Human	1	name
28870532	CV890124	single nucleotide variant	NM_031296.3(RAB33B):c.*425T>C	Smith-McCort dysplasia 2 [RCV001145405]	uncertain significance	4	139473551	139473551	Human	1	name
28870536	CV890125	single nucleotide variant	NM_031296.3(RAB33B):c.*513C>T	Smith-McCort dysplasia 2 [RCV001145406]	likely benign	4	139473639	139473639	Human	1	name
28870540	CV890126	single nucleotide variant	NM_031296.3(RAB33B):c.*576T>C	Smith-McCort dysplasia 2 [RCV001145407]	likely benign	4	139473702	139473702	Human	1	name
28874582	CV890127	single nucleotide variant	NM_031296.3(RAB33B):c.*780T>C	Smith-McCort dysplasia 2 [RCV001147272]	uncertain significance	4	139473906	139473906	Human	1	name
28874584	CV890128	single nucleotide variant	NM_031296.3(RAB33B):c.*924G>A	Smith-McCort dysplasia 2 [RCV001147273]	uncertain significance	4	139474050	139474050	Human	1	name
11591239	CV292286	single nucleotide variant	NM_031296.3(RAB33B):c.*1077G>A	Smith-McCort dysplasia 2 [RCV000326944]	benign\|likely benign	4	139474203	139474203	Human	1	name
11596403	CV292290	single nucleotide variant	NM_031296.3(RAB33B):c.*1303C>T	Smith-McCort dysplasia 2 [RCV000381809]\|not provided [RCV004716152]	benign	4	139474429	139474429	Human	1	name
11647747	CV292297	single nucleotide variant	NM_031296.3(RAB33B):c.*1310G>A	Smith-McCort dysplasia 2 [RCV000278022]	uncertain significance	4	139474436	139474436	Human	1	name
11591828	CV292299	single nucleotide variant	NM_031296.3(RAB33B):c.*1403C>A	Smith-McCort dysplasia 2 [RCV000332942]\|not provided [RCV004710973]	likely benign	4	139474529	139474529	Human	1	name
11587056	CV292304	single nucleotide variant	NM_031296.3(RAB33B):c.*1819A>G	Smith-McCort dysplasia 2 [RCV000292181]	uncertain significance	4	139474945	139474945	Human	1	name
11652444	CV292307	single nucleotide variant	NM_031296.3(RAB33B):c.*2599A>G	Smith-McCort dysplasia 2 [RCV000304838]	uncertain significance	4	139475725	139475725	Human	1	name
11656991	CV293740	single nucleotide variant	NM_031296.3(RAB33B):c.*1976A>G	Smith-McCort dysplasia 2 [RCV000337773]	uncertain significance	4	139475102	139475102	Human	1	name
11597606	CV293741	single nucleotide variant	NM_031296.3(RAB33B):c.*2327G>A	Smith-McCort dysplasia 2 [RCV000395848]	uncertain significance	4	139475453	139475453	Human	1	name
11592650	CV293742	single nucleotide variant	NM_031296.3(RAB33B):c.*2651C>A	Smith-McCort dysplasia 2 [RCV000340957]\|not provided [RCV004716153]	benign	4	139475777	139475777	Human	1	name
11596899	CV297021	single nucleotide variant	NM_031296.3(RAB33B):c.*1751G>T	Smith-McCort dysplasia 2 [RCV000387519]\|not provided [RCV004710974]	likely benign\|uncertain significance	4	139474877	139474877	Human	1	name
11591988	CV297029	single nucleotide variant	NM_031296.3(RAB33B):c.*2132T>G	Smith-McCort dysplasia 2 [RCV000334442]	uncertain significance	4	139475258	139475258	Human	1	name
11661170	CV297076	single nucleotide variant	NM_031296.3(RAB33B):c.*1994T>A	Smith-McCort dysplasia 2 [RCV000373875]	uncertain significance	4	139475120	139475120	Human	1	name
11585216	CV297079	single nucleotide variant	NM_031296.3(RAB33B):c.*2026G>A	Smith-McCort dysplasia 2 [RCV000279347]\|not provided [RCV004710975]	likely benign	4	139475152	139475152	Human	1	name
28874586	CV890129	single nucleotide variant	NM_031296.3(RAB33B):c.*1157T>G	Smith-McCort dysplasia 2 [RCV001147274]	uncertain significance	4	139474283	139474283	Human	1	name
28877209	CV890130	single nucleotide variant	NM_031296.3(RAB33B):c.*1235G>A	Smith-McCort dysplasia 2 [RCV001148273]	uncertain significance	4	139474361	139474361	Human	1	name
28877214	CV890131	single nucleotide variant	NM_031296.3(RAB33B):c.*1322C>G	Smith-McCort dysplasia 2 [RCV001148274]	uncertain significance	4	139474448	139474448	Human	1	name
28877217	CV890132	single nucleotide variant	NM_031296.3(RAB33B):c.*1455A>G	Smith-McCort dysplasia 2 [RCV001148275]	uncertain significance	4	139474581	139474581	Human	1	name
28882102	CV890133	single nucleotide variant	NM_031296.3(RAB33B):c.*1925A>G	Smith-McCort dysplasia 2 [RCV001149834]	uncertain significance	4	139475051	139475051	Human	1	name
28882105	CV890134	single nucleotide variant	NM_031296.3(RAB33B):c.*1949A>C	Smith-McCort dysplasia 2 [RCV001149835]	uncertain significance	4	139475075	139475075	Human	1	name
28882109	CV890135	single nucleotide variant	NM_031296.3(RAB33B):c.*2130G>A	Smith-McCort dysplasia 2 [RCV001149836]	uncertain significance	4	139475256	139475256	Human	1	name
28882112	CV890136	single nucleotide variant	NM_031296.3(RAB33B):c.*2271A>C	Smith-McCort dysplasia 2 [RCV001149837]	uncertain significance	4	139475397	139475397	Human	1	name
28870743	CV890137	single nucleotide variant	NM_031296.3(RAB33B):c.*2355T>A	Smith-McCort dysplasia 2 [RCV001145499]\|not provided [RCV004694901]	uncertain significance	4	139475481	139475481	Human	1	name
28870745	CV890138	single nucleotide variant	NM_031296.3(RAB33B):c.*2359T>A	Smith-McCort dysplasia 2 [RCV001145500]	uncertain significance	4	139475485	139475485	Human	1	name
28870751	CV890139	single nucleotide variant	NM_031296.3(RAB33B):c.*2391C>T	Smith-McCort dysplasia 2 [RCV001145501]	uncertain significance	4	139475517	139475517	Human	1	name
28870753	CV890140	single nucleotide variant	NM_031296.3(RAB33B):c.*2522A>C	Smith-McCort dysplasia 2 [RCV001145502]	uncertain significance	4	139475648	139475648	Human	1	name
28870756	CV890141	single nucleotide variant	NM_031296.3(RAB33B):c.*2548T>G	Smith-McCort dysplasia 2 [RCV001145503]	likely benign	4	139475674	139475674	Human	1	name
28874798	CV890142	single nucleotide variant	NM_031296.3(RAB33B):c.*2722T>G	Smith-McCort dysplasia 2 [RCV001147357]\|not provided [RCV004711544]	likely benign	4	139475848	139475848	Human	1	name
28874802	CV890143	single nucleotide variant	NM_031296.3(RAB33B):c.*2754C>G	Smith-McCort dysplasia 2 [RCV001147358]	uncertain significance	4	139475880	139475880	Human	1	name
156411273	CV1977056	single nucleotide variant	NM_031296.3(RAB33B):c.250-20C>T	not provided [RCV002608206]	likely benign	4	139472666	139472666	Human		name
11583057	CV293726	single nucleotide variant	NM_031296.3(RAB33B):c.249+10T>C	Smith-McCort dysplasia 2 [RCV000263939]	uncertain significance	4	139454454	139454454	Human	1	name
405125429	CV3136415	single nucleotide variant	NM_031296.3(RAB33B):c.250-18T>C	not provided [RCV003837745]	likely benign	4	139472668	139472668	Human		name
11584198	CV292285	deletion	NM_031296.3(RAB33B):c.796_797del	Smith-McCort dysplasia [RCV000271917]\|not provided [RCV004695776]	uncertain significance	4	139473903	139473904	Human	1	name
156022052	CV2019415	single nucleotide variant	NM_031296.3(RAB33B):c.42G>T (p.Ser14=)	not provided [RCV002691048]	likely benign	4	139454237	139454237	Human		name
405165484	CV3160443	single nucleotide variant	NM_031296.3(RAB33B):c.66C>T (p.Ala22=)	not provided [RCV003857323]	likely benign	4	139454261	139454261	Human		name
15179461	CV764327	single nucleotide variant	NM_031296.3(RAB33B):c.96C>G (p.Arg32=)	not provided [RCV000929646]	likely benign	4	139454291	139454291	Human		name
152103777	CV1624526	single nucleotide variant	NM_031296.3(RAB33B):c.246C>T (p.Ile82=)	not provided [RCV002173439]	likely benign	4	139454441	139454441	Human		name
155936209	CV2380337	single nucleotide variant	NM_031296.3(RAB33B):c.14T>C (p.Met5Thr)	Inborn genetic diseases [RCV002729504]	uncertain significance	4	139454209	139454209	Human	1	name
402479639	CV2853993	single nucleotide variant	NM_031296.3(RAB33B):c.186C>G (p.Thr62=)	not provided [RCV003543878]	likely benign	4	139454381	139454381	Human		name
11596010	CV297014	single nucleotide variant	NM_031296.3(RAB33B):c.135C>G (p.Gly45=)	Smith-McCort dysplasia 2 [RCV000377262]\|not provided [RCV002057915]	likely benign\|uncertain significance	4	139454330	139454330	Human	1	name
597930667	CV3789365	single nucleotide variant	NM_031296.3(RAB33B):c.16G>T (p.Glu6Ter)	not provided [RCV005131646]	pathogenic	4	139454211	139454211	Human		name
598164240	CV3898577	single nucleotide variant	NM_031296.3(RAB33B):c.13A>G (p.Met5Val)	Inborn genetic diseases [RCV005261677]	uncertain significance	4	139454208	139454208	Human	1	name
15152483	CV748750	single nucleotide variant	NM_031296.3(RAB33B):c.258A>G (p.Leu86=)	Smith-McCort dysplasia 2 [RCV001148161]\|not provided [RCV000923881]	benign	4	139472694	139472694	Human	1	name
28874390	CV890116	single nucleotide variant	NM_031296.3(RAB33B):c.201G>A (p.Gly67=)	Smith-McCort dysplasia 2 [RCV001147191]\|not provided [RCV005093640]	likely benign\|uncertain significance	4	139454396	139454396	Human	1	name
151839351	CV1487577	single nucleotide variant	NM_031296.3(RAB33B):c.97A>C (p.Ile33Leu)	not provided [RCV001935916]	uncertain significance	4	139454292	139454292	Human		name
152037038	CV1521848	single nucleotide variant	NM_031296.3(RAB33B):c.375A>G (p.Leu125=)	not provided [RCV002187677]	likely benign	4	139472811	139472811	Human		name
152162609	CV1608945	single nucleotide variant	NM_031296.3(RAB33B):c.480A>G (p.Thr160=)	not provided [RCV002104085]	likely benign	4	139472916	139472916	Human		name
152105117	CV1614620	single nucleotide variant	NM_031296.3(RAB33B):c.537T>C (p.Ala179=)	not provided [RCV002079499]	likely benign	4	139472973	139472973	Human		name
152043404	CV1619836	single nucleotide variant	NM_031296.3(RAB33B):c.531G>C (p.Thr177=)	not provided [RCV002188552]	benign	4	139472967	139472967	Human		name
155916109	CV1980870	single nucleotide variant	NM_031296.3(RAB33B):c.546C>A (p.Pro182=)	not provided [RCV002614321]	likely benign	4	139472982	139472982	Human		name
156320074	CV2025277	single nucleotide variant	NM_031296.3(RAB33B):c.681C>T (p.Cys227=)	not provided [RCV002717032]	likely benign	4	139473117	139473117	Human		name
155914116	CV2077880	single nucleotide variant	NM_031296.3(RAB33B):c.360T>C (p.Ala120=)	not provided [RCV002858706]	likely benign	4	139472796	139472796	Human		name
155972691	CV2078148	single nucleotide variant	NM_031296.3(RAB33B):c.83C>T (p.Pro28Leu)	not provided [RCV002863394]	uncertain significance	4	139454278	139454278	Human		name
156137957	CV2082138	single nucleotide variant	NM_031296.3(RAB33B):c.333C>T (p.Val111=)	not provided [RCV002871880]	likely benign	4	139472769	139472769	Human		name
155946450	CV2107888	single nucleotide variant	NM_031296.3(RAB33B):c.78G>C (p.Leu26Phe)	not provided [RCV002904793]	uncertain significance	4	139454273	139454273	Human		name
156139814	CV2137722	single nucleotide variant	NM_031296.3(RAB33B):c.561T>C (p.His187=)	not provided [RCV002982272]	likely benign	4	139472997	139472997	Human		name
329393648	CV2449769	single nucleotide variant	NM_031296.3(RAB33B):c.94C>T (p.Arg32Cys)	Inborn genetic diseases [RCV003193277]	uncertain significance	4	139454289	139454289	Human	1	name
11591424	CV293727	single nucleotide variant	NM_031296.3(RAB33B):c.336C>T (p.Phe112=)	Smith-McCort dysplasia 2 [RCV000328510]\|not provided [RCV002057916]	likely benign\|uncertain significance	4	139472772	139472772	Human	1	name
11586562	CV293730	single nucleotide variant	NM_031296.3(RAB33B):c.432T>C (p.Ile144=)	Smith-McCort dysplasia 2 [RCV000288744]\|not provided [RCV001850842]	likely benign\|uncertain significance	4	139472868	139472868	Human	1	name
597836373	CV3757674	single nucleotide variant	NM_031296.3(RAB33B):c.429G>A (p.Arg143=)	not provided [RCV005085688]	likely benign	4	139472865	139472865	Human		name
597943046	CV3757763	single nucleotide variant	NM_031296.3(RAB33B):c.594G>A (p.Lys198=)	not provided [RCV005077761]	likely benign	4	139473030	139473030	Human		name
597930674	CV3789366	duplication	NM_031296.3(RAB33B):c.169dup (p.Arg57fs)	not provided [RCV005131647]	likely pathogenic	4	139454362	139454363	Human		name
14349560	CV590521	deletion	NM_031296.3(RAB33B):c.186del (p.Glu63fs)	Smith-McCort dysplasia 2 [RCV000735865]	pathogenic\|likely pathogenic	4	139454380	139454380	Human	1	name
28876828	CV890118	single nucleotide variant	NM_031296.3(RAB33B):c.600G>A (p.Lys200=)	Smith-McCort dysplasia 2 [RCV001148163]	uncertain significance	4	139473036	139473036	Human	1	name
28881734	CV890119	single nucleotide variant	NM_031296.3(RAB33B):c.613T>C (p.Leu205=)	Smith-McCort dysplasia 2 [RCV001149721]	uncertain significance	4	139473049	139473049	Human	1	name
28881738	CV890120	single nucleotide variant	NM_031296.3(RAB33B):c.678G>A (p.Thr226=)	Smith-McCort dysplasia 2 [RCV001149722]\|not provided [RCV002070815]	likely benign\|uncertain significance	4	139473114	139473114	Human	1	name
126736813	CV1019934	deletion	NM_031296.3(RAB33B):c.633del (p.Asp212fs)	Smith-McCort dysplasia 2 [RCV001335168]	pathogenic	4	139473069	139473069	Human		name
127261151	CV1087124	single nucleotide variant	NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter)	Smith-McCort dysplasia 2 [RCV001420351]	pathogenic	4	139454339	139454339	Human	1	name
127261150	CV1087125	single nucleotide variant	NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter)	Smith-McCort dysplasia 2 [RCV001420350]	pathogenic	4	139472689	139472689	Human	1	name
127261152	CV1087126	single nucleotide variant	NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter)	Smith-McCort dysplasia 2 [RCV001420352]	pathogenic	4	139472716	139472716	Human	1	name
151766006	CV1348545	single nucleotide variant	NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala)	Smith-McCort dysplasia 2 [RCV003130576]\|not provided [RCV001895863]	uncertain significance	4	139454388	139454388	Human	1	name
151793147	CV1411292	single nucleotide variant	NM_031296.3(RAB33B):c.127A>C (p.Asn43His)	not provided [RCV002010888]	uncertain significance	4	139454322	139454322	Human		name
151791553	CV1422749	single nucleotide variant	NM_031296.3(RAB33B):c.242G>C (p.Arg81Pro)	not provided [RCV001916868]	uncertain significance	4	139454437	139454437	Human		name
151829308	CV1465736	single nucleotide variant	NM_031296.3(RAB33B):c.178G>T (p.Asp60Tyr)	not provided [RCV002050565]	uncertain significance	4	139454373	139454373	Human		name
151791474	CV1489982	single nucleotide variant	NM_031296.3(RAB33B):c.145C>G (p.Leu49Val)	not provided [RCV001952090]	uncertain significance	4	139454340	139454340	Human		name
156377521	CV2050591	single nucleotide variant	NM_031296.3(RAB33B):c.174C>A (p.Phe58Leu)	not provided [RCV002814820]	uncertain significance	4	139454369	139454369	Human		name
155932076	CV2293873	single nucleotide variant	NM_031296.3(RAB33B):c.218G>T (p.Arg73Leu)	Inborn genetic diseases [RCV002861116]	uncertain significance	4	139454413	139454413	Human	1	name
404981850	CV2848924	single nucleotide variant	NM_031296.3(RAB33B):c.133G>A (p.Gly45Ser)	Smith-McCort dysplasia 2 [RCV003488826]	uncertain significance	4	139454328	139454328	Human	1	name
11590864	CV297058	single nucleotide variant	NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser)	Inborn genetic diseases [RCV002520202]\|Smith-McCort dysplasia 2 [RCV000323050]\|not provided [RCV002520203]	uncertain significance	4	139454323	139454323	Human	2	name
405703765	CV3224542	single nucleotide variant	NM_031296.3(RAB33B):c.118G>T (p.Gly40Cys)	Smith-McCort dysplasia 2 [RCV003989930]	uncertain significance	4	139454313	139454313	Human	1	name
597707136	CV3589043	single nucleotide variant	NM_031296.3(RAB33B):c.217C>G (p.Arg73Gly)	Inborn genetic diseases [RCV004957479]	uncertain significance	4	139454412	139454412	Human	1	name
597707143	CV3589044	single nucleotide variant	NM_031296.3(RAB33B):c.250A>G (p.Ile84Val)	Inborn genetic diseases [RCV004957480]	uncertain significance	4	139472686	139472686	Human	1	name
597955542	CV3796164	single nucleotide variant	NM_031296.3(RAB33B):c.231T>G (p.Ile77Met)	not provided [RCV005136981]	likely benign	4	139454426	139454426	Human		name
12905101	CV413915	single nucleotide variant	NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter)	Smith-McCort dysplasia 2 [RCV000488447]	pathogenic	4	139454406	139454406	Human	1	name
8572413	CV59384	single nucleotide variant	NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln)	Smith-McCort dysplasia 2 [RCV000043483]	pathogenic\|likely pathogenic	4	139454331	139454331	Human	1	name
126753242	CV1035912	single nucleotide variant	NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)	See cases [RCV004584436]\|Smith-McCort dysplasia 2 [RCV001352912]	pathogenic	4	139472836	139472836	Human	1	name
151812827	CV1343626	single nucleotide variant	NM_031296.3(RAB33B):c.421A>G (p.Ile141Val)	not provided [RCV001918781]	uncertain significance	4	139472857	139472857	Human		name
151849918	CV1367436	single nucleotide variant	NM_031296.3(RAB33B):c.337G>A (p.Val113Met)	Inborn genetic diseases [RCV004656685]\|not provided [RCV001903955]	uncertain significance	4	139472773	139472773	Human	1	name
151882093	CV1371135	single nucleotide variant	NM_031296.3(RAB33B):c.455T>A (p.Leu152Ter)	not provided [RCV001886660]	uncertain significance	4	139472891	139472891	Human		name
151737039	CV1391612	single nucleotide variant	NM_031296.3(RAB33B):c.573A>G (p.Ile191Met)	Inborn genetic diseases [RCV004038777]\|not provided [RCV002041829]	uncertain significance	4	139473009	139473009	Human	1	name
151754030	CV1407366	single nucleotide variant	NM_031296.3(RAB33B):c.462T>A (p.Ser154Arg)	Inborn genetic diseases [RCV005264176]\|not provided [RCV002023681]	uncertain significance	4	139472898	139472898	Human	1	name
151871787	CV1436641	single nucleotide variant	NM_031296.3(RAB33B):c.394T>C (p.Cys132Arg)	not provided [RCV001998441]	uncertain significance	4	139472830	139472830	Human		name
151833477	CV1446632	single nucleotide variant	NM_031296.3(RAB33B):c.395G>T (p.Cys132Phe)	not provided [RCV002031032]	uncertain significance	4	139472831	139472831	Human		name
152978610	CV1671804	single nucleotide variant	NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr)	Smith-McCort dysplasia 2 [RCV002227903]	uncertain significance	4	139473126	139473126	Human	1	name
156413851	CV1901118	single nucleotide variant	NM_031296.3(RAB33B):c.671C>T (p.Ala224Val)	not provided [RCV002588295]	uncertain significance	4	139473107	139473107	Human		name
156235712	CV2036493	single nucleotide variant	NM_031296.3(RAB33B):c.416A>G (p.Asn139Ser)	Inborn genetic diseases [RCV004958766]\|not provided [RCV002805488]	likely benign\|uncertain significance	4	139472852	139472852	Human	1	name
156036347	CV2249909	single nucleotide variant	NM_031296.3(RAB33B):c.562G>A (p.Val188Met)	Inborn genetic diseases [RCV002821421]	uncertain significance	4	139472998	139472998	Human	1	name
156051961	CV2304694	single nucleotide variant	NM_031296.3(RAB33B):c.403C>T (p.His135Tyr)	Inborn genetic diseases [RCV002911260]	uncertain significance	4	139472839	139472839	Human	1	name
155964859	CV2395887	single nucleotide variant	NM_031296.3(RAB33B):c.427C>T (p.Arg143Trp)	Inborn genetic diseases [RCV002754350]	uncertain significance	4	139472863	139472863	Human	1	name
11596511	CV293728	single nucleotide variant	NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys)	Smith-McCort dysplasia 2 [RCV000383050]\|not provided [RCV001861226]	uncertain significance	4	139472853	139472853	Human	1	name
11597033	CV297018	single nucleotide variant	NM_031296.3(RAB33B):c.677C>T (p.Thr226Met)	Smith-McCort dysplasia 2 [RCV000389054]\|not provided [RCV002061241]	likely benign\|uncertain significance	4	139473113	139473113	Human	1	name
11592959	CV297062	single nucleotide variant	NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp)	Smith-McCort dysplasia 2 [RCV000343754]	uncertain significance	4	139472989	139472989	Human	1	name
597930287	CV3789307	single nucleotide variant	NM_031296.3(RAB33B):c.561T>G (p.His187Gln)	not provided [RCV005131588]	uncertain significance	4	139472997	139472997	Human		name
12905098	CV413916	single nucleotide variant	NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)	Smith-McCort dysplasia 2 [RCV000488435]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	4	139472801	139472801	Human	1	name
12907496	CV413917	deletion	NM_031296.3(RAB33B):c.48_55del (p.Gly17fs)	Smith-McCort dysplasia 2 [RCV000488443]	pathogenic	4	139454240	139454247	Human	1	name
12905102	CV413918	single nucleotide variant	NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter)	Smith-McCort dysplasia 2 [RCV000488449]	pathogenic	4	139472926	139472926	Human	1	name
8572414	CV59385	single nucleotide variant	NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys)	Smith-McCort dysplasia 2 [RCV000043484]	pathogenic	4	139472880	139472880	Human	1	name
21069015	CV795535	single nucleotide variant	NM_031296.3(RAB33B):c.502G>A (p.Asp168Asn)	not provided [RCV000998298]	uncertain significance	4	139472938	139472938	Human		name
28876824	CV890117	single nucleotide variant	NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)	RAB33B-related disorder [RCV003938511]\|Smith-McCort dysplasia 2 [RCV001148162]\|not provided [RCV001573007]	likely benign\|uncertain significance	4	139472966	139472966	Human	1	name , trait , alternate_id
126730670	CV985954	single nucleotide variant	NM_031296.3(RAB33B):c.391G>T (p.Glu131Ter)	not provided [RCV002741704]	pathogenic\|uncertain significance	4	139472827	139472827	Human		name
150481878	CV1265692	deletion	NM_031296.3(RAB33B):c.186_192del (p.Glu63fs)	not provided [RCV001682688]	pathogenic	4	139454380	139454386	Human		name
150481886	CV1265693	deletion	NM_031296.3(RAB33B):c.197_199del (p.Ile66_Gly67delinsArg)	not provided [RCV001682689]	pathogenic	4	139454392	139454394	Human		name

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