Rab23 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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295 records found for search term Rab23

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
408373077	CV3513963	single nucleotide variant	NM_016277.5(RAB23):c.-6C>T	RAB23-related disorder [RCV004744152]	likely benign	6	57210386	57210386	Human		name , trait , alternate_id
11593126	CV303777	single nucleotide variant	NM_016277.5(RAB23):c.-23C>T	RAB23-related Carpenter syndrome [RCV000345631]\|not provided [RCV002266957]	benign\|likely benign\|uncertain significance	6	57210403	57210403	Human	2	name , trait
11598640	CV303779	single nucleotide variant	NM_016277.5(RAB23):c.-49C>T	RAB23-related Carpenter syndrome [RCV000408386]	uncertain significance	6	57210429	57210429	Human	2	name , trait
28867870	CV896699	single nucleotide variant	NM_016277.5(RAB23):c.*81G>T	RAB23-related Carpenter syndrome [RCV001162140]	uncertain significance	6	57190380	57190380	Human	2	name , trait
11588202	CV300838	single nucleotide variant	NM_016277.5(RAB23):c.*984G>A	RAB23-related Carpenter syndrome [RCV000300972]	likely benign\|uncertain significance	6	57189477	57189477	Human	2	name , trait
11598228	CV300840	single nucleotide variant	NM_016277.5(RAB23):c.*811G>A	RAB23-related Carpenter syndrome [RCV000402922]	benign\|likely benign	6	57189650	57189650	Human	2	name , trait
11646245	CV300841	single nucleotide variant	NM_016277.5(RAB23):c.*618A>G	RAB23-related Carpenter syndrome [RCV000269575]	uncertain significance	6	57189843	57189843	Human	2	name , trait
11595491	CV303736	single nucleotide variant	NM_016277.5(RAB23):c.*722T>C	RAB23-related Carpenter syndrome [RCV000370984]	uncertain significance	6	57189739	57189739	Human	2	name , trait
11594972	CV303739	single nucleotide variant	NM_016277.5(RAB23):c.*544G>A	RAB23-related Carpenter syndrome [RCV000365391]	uncertain significance	6	57189917	57189917	Human	2	name , trait
11584368	CV303740	single nucleotide variant	NM_016277.5(RAB23):c.*416G>C	Carpenter syndrome [RCV000273177]\|not provided [RCV004705419]	likely benign	6	57190045	57190045	Human	1	name
11653951	CV308341	single nucleotide variant	NM_016277.5(RAB23):c.*735T>G	RAB23-related Carpenter syndrome [RCV000313985]	uncertain significance	6	57189726	57189726	Human	2	name , trait
11605573	CV308347	single nucleotide variant	NM_016277.5(RAB23):c.*145T>C	RAB23-related Carpenter syndrome [RCV000321279]	uncertain significance	6	57190316	57190316	Human	2	name , trait
11609414	CV308428	single nucleotide variant	NM_016277.5(RAB23):c.*920C>G	Carpenter syndrome [RCV000367592]	uncertain significance	6	57189541	57189541	Human	1	name
28906792	CV896695	single nucleotide variant	NM_016277.5(RAB23):c.*850A>G	RAB23-related Carpenter syndrome [RCV001159151]	uncertain significance	6	57189611	57189611	Human	2	name , trait
28909245	CV896696	single nucleotide variant	NM_016277.5(RAB23):c.*795G>A	RAB23-related Carpenter syndrome [RCV001160505]	uncertain significance	6	57189666	57189666	Human	2	name , trait
28909247	CV896697	single nucleotide variant	NM_016277.5(RAB23):c.*677T>C	RAB23-related Carpenter syndrome [RCV001160506]	likely benign	6	57189784	57189784	Human	2	name , trait
28867867	CV896698	single nucleotide variant	NM_016277.5(RAB23):c.*117A>G	RAB23-related Carpenter syndrome [RCV001162139]	uncertain significance	6	57190344	57190344	Human	2	name , trait
127235603	CV1073799	single nucleotide variant	NM_016277.5(RAB23):c.482-8T>G	Carpenter syndrome [RCV001391919]	likely benign	6	57193942	57193942	Human	1	name
127266419	CV1073800	single nucleotide variant	NM_016277.5(RAB23):c.399-6G>A	Carpenter syndrome [RCV001403867]	likely benign	6	57194858	57194858	Human	1	name
127236832	CV1073803	single nucleotide variant	NM_016277.5(RAB23):c.155+8C>T	Carpenter syndrome [RCV001414744]	likely benign	6	57210218	57210218	Human	1	name
127284329	CV1095382	single nucleotide variant	NM_016277.5(RAB23):c.575-7T>A	Carpenter syndrome [RCV001449323]	likely benign	6	57190607	57190607	Human	1	name
127306826	CV1116944	single nucleotide variant	NM_016277.5(RAB23):c.574+8C>T	Carpenter syndrome [RCV001455654]	likely benign	6	57193834	57193834	Human	1	name
150408389	CV1200114	single nucleotide variant	NM_016277.5(RAB23):c.398+1G>A	RAB23-related Carpenter syndrome [RCV001580137]	pathogenic	6	57196449	57196449	Human	2	name , trait
151736040	CV1465922	single nucleotide variant	NM_016277.5(RAB23):c.156-1G>C	Carpenter syndrome [RCV002041723]	likely pathogenic	6	57207714	57207714	Human	1	name
152043514	CV1522442	duplication	NM_016277.5(RAB23):c.155+6dup	Carpenter syndrome [RCV002088271]\|RAB23-related disorder [RCV004744257]	likely benign	6	57210219	57210220	Human	2	name , trait , alternate_id
152145611	CV1543305	single nucleotide variant	NM_016277.5(RAB23):c.399-9G>T	Carpenter syndrome [RCV002178679]	likely benign	6	57194861	57194861	Human	1	name
152067267	CV1579189	single nucleotide variant	NM_016277.5(RAB23):c.481+7T>A	Carpenter syndrome [RCV002074619]	likely benign	6	57194763	57194763	Human	1	name
152120915	CV1593899	single nucleotide variant	NM_016277.5(RAB23):c.482-9T>G	Carpenter syndrome [RCV002098136]\|RAB23-related disorder [RCV003903328]	likely benign	6	57193943	57193943	Human	2	name , trait , alternate_id
152051714	CV1607120	single nucleotide variant	NM_016277.5(RAB23):c.482-7A>G	Carpenter syndrome [RCV002109053]	likely benign	6	57193941	57193941	Human	1	name
152135065	CV1613480	single nucleotide variant	NM_016277.5(RAB23):c.242-6T>C	Carpenter syndrome [RCV002156029]	likely benign	6	57196612	57196612	Human	1	name
152132300	CV1630071	single nucleotide variant	NM_016277.5(RAB23):c.398+9G>T	Carpenter syndrome [RCV002176961]	likely benign	6	57196441	57196441	Human	1	name
152113059	CV1659385	single nucleotide variant	NM_016277.5(RAB23):c.481+8A>C	Carpenter syndrome [RCV002080515]	likely benign	6	57194762	57194762	Human	1	name
156155501	CV1875423	single nucleotide variant	NM_016277.5(RAB23):c.399-7T>C	Carpenter syndrome [RCV003056695]	likely benign	6	57194859	57194859	Human	1	name
156438894	CV1947811	single nucleotide variant	NM_016277.5(RAB23):c.574+7A>G	Carpenter syndrome [RCV003108842]	likely benign	6	57193835	57193835	Human	1	name
156213721	CV2074380	single nucleotide variant	NM_016277.5(RAB23):c.575-5T>A	Carpenter syndrome [RCV002829402]	likely benign	6	57190605	57190605	Human	1	name
155947805	CV2108220	single nucleotide variant	NM_016277.5(RAB23):c.481+4A>C	Carpenter syndrome [RCV002904881]\|Inborn genetic diseases [RCV002904880]\|RAB23-related disorder [RCV004744478]	uncertain significance	6	57194766	57194766	Human	3	name , trait , alternate_id
156127155	CV2183827	single nucleotide variant	NM_016277.5(RAB23):c.481+1G>A	Carpenter syndrome [RCV003039548]	likely pathogenic	6	57194769	57194769	Human	1	name
405165178	CV2996512	single nucleotide variant	NM_016277.5(RAB23):c.156-8T>G	Carpenter syndrome [RCV003757642]	likely benign	6	57207721	57207721	Human	1	name
405165039	CV2999447	single nucleotide variant	NM_016277.5(RAB23):c.242-7C>T	Carpenter syndrome [RCV003757629]	likely benign	6	57196613	57196613	Human	1	name
11587777	CV300834	single nucleotide variant	NM_016277.5(RAB23):c.*1312A>G	Carpenter syndrome [RCV000297591]\|not provided [RCV004707163]	likely benign	6	57189149	57189149	Human	1	name
11601771	CV308352	single nucleotide variant	NM_016277.5(RAB23):c.398+9G>A	Carpenter syndrome [RCV001451137]\|RAB23-related Carpenter syndrome [RCV000285069]\|RAB23-related disorder [RCV003922580]	likely benign\|uncertain significance	6	57196441	57196441	Human	2	name , trait , alternate_id
11606838	CV308425	single nucleotide variant	NM_016277.5(RAB23):c.*1251G>A	Carpenter syndrome [RCV000336204]\|not provided [RCV004695970]	uncertain significance	6	57189210	57189210	Human	1	name
408373574	CV3516388	deletion	NM_016277.5(RAB23):c.398+6del	RAB23-related disorder [RCV004745071]	likely benign	6	57196444	57196444	Human		name , trait , alternate_id
596944623	CV3543268	single nucleotide variant	NM_016277.5(RAB23):c.482-1G>A	Carpenter syndrome [RCV004799140]	likely pathogenic	6	57193935	57193935	Human	1	name
597685412	CV3722481	single nucleotide variant	NM_016277.5(RAB23):c.399-2A>G	RAB23-related Carpenter syndrome [RCV005045818]	likely pathogenic	6	57194854	57194854	Human	2	name , trait
13486174	CV456662	single nucleotide variant	NM_016277.5(RAB23):c.481+5A>G	Carpenter syndrome [RCV000531117]\|not provided [RCV001540505]	likely benign	6	57194765	57194765	Human	1	name
15113266	CV775098	single nucleotide variant	NM_016277.5(RAB23):c.481+9C>T	not provided [RCV000939092]	likely benign	6	57194761	57194761	Human		name
15102087	CV775211	single nucleotide variant	NM_016277.5(RAB23):c.156-8T>C	Carpenter syndrome [RCV001441750]	likely benign	6	57207721	57207721	Human	1	name
28906604	CV896668	single nucleotide variant	NM_016277.5(RAB23):c.*3330A>G	RAB23-related Carpenter syndrome [RCV001159051]	benign	6	57187131	57187132	Human	3	name , trait
28906604	CV896668	single nucleotide variant	NM_016277.5(RAB23):c.*3330A>G	RAB23-related Carpenter syndrome [RCV001159051]	benign	6	57187131	57187131	Human	3	name , trait
28906606	CV896669	single nucleotide variant	NM_016277.5(RAB23):c.*3298A>G	RAB23-related Carpenter syndrome [RCV001159052]	uncertain significance	6	57187163	57187163	Human	2	name , trait
28906608	CV896670	single nucleotide variant	NM_016277.5(RAB23):c.*3189T>C	RAB23-related Carpenter syndrome [RCV001159053]	likely benign	6	57187272	57187272	Human	2	name , trait
28906610	CV896671	single nucleotide variant	NM_016277.5(RAB23):c.*3129G>C	RAB23-related Carpenter syndrome [RCV001159054]	uncertain significance	6	57187332	57187332	Human	2	name , trait
28909040	CV896672	single nucleotide variant	NM_016277.5(RAB23):c.*3033C>T	RAB23-related Carpenter syndrome [RCV001160390]	uncertain significance	6	57187428	57187428	Human	2	name , trait
28909043	CV896673	single nucleotide variant	NM_016277.5(RAB23):c.*2876T>C	RAB23-related Carpenter syndrome [RCV001160391]	uncertain significance	6	57187585	57187585	Human	2	name , trait
28909046	CV896674	single nucleotide variant	NM_016277.5(RAB23):c.*2769C>A	RAB23-related Carpenter syndrome [RCV001160392]	uncertain significance	6	57187692	57187692	Human	2	name , trait
28909048	CV896675	single nucleotide variant	NM_016277.5(RAB23):c.*2753G>A	RAB23-related Carpenter syndrome [RCV001160393]	uncertain significance	6	57187708	57187708	Human	2	name , trait
28909049	CV896676	single nucleotide variant	NM_016277.5(RAB23):c.*2681G>A	RAB23-related Carpenter syndrome [RCV001160394]	uncertain significance	6	57187780	57187780	Human	2	name , trait
28909050	CV896677	single nucleotide variant	NM_016277.5(RAB23):c.*2586G>A	RAB23-related Carpenter syndrome [RCV001160395]	uncertain significance	6	57187875	57187875	Human	2	name , trait
28909053	CV896678	single nucleotide variant	NM_016277.5(RAB23):c.*2485A>G	RAB23-related Carpenter syndrome [RCV001160396]	benign	6	57187976	57187976	Human	2	name , trait
28909055	CV896679	single nucleotide variant	NM_016277.5(RAB23):c.*2425G>A	RAB23-related Carpenter syndrome [RCV001160397]	benign	6	57188036	57188036	Human	2	name , trait
28867705	CV896680	single nucleotide variant	NM_016277.5(RAB23):c.*2341C>A	RAB23-related Carpenter syndrome [RCV001162043]	uncertain significance	6	57188120	57188120	Human	2	name , trait
28867706	CV896681	single nucleotide variant	NM_016277.5(RAB23):c.*2319T>C	RAB23-related Carpenter syndrome [RCV001162044]	uncertain significance	6	57188142	57188142	Human	2	name , trait
28867708	CV896682	single nucleotide variant	NM_016277.5(RAB23):c.*2273T>C	RAB23-related Carpenter syndrome [RCV001162045]	benign	6	57188188	57188188	Human	2	name , trait
28867709	CV896683	single nucleotide variant	NM_016277.5(RAB23):c.*2245T>C	RAB23-related Carpenter syndrome [RCV001162046]	uncertain significance	6	57188216	57188216	Human	2	name , trait
28867711	CV896684	single nucleotide variant	NM_016277.5(RAB23):c.*2067A>G	RAB23-related Carpenter syndrome [RCV001162047]	uncertain significance	6	57188394	57188394	Human	2	name , trait
28867712	CV896685	single nucleotide variant	NM_016277.5(RAB23):c.*2008G>A	RAB23-related Carpenter syndrome [RCV001162048]\|not provided [RCV004695044]	uncertain significance	6	57188453	57188453	Human	2	name , trait
28867713	CV896686	single nucleotide variant	NM_016277.5(RAB23):c.*1817A>G	RAB23-related Carpenter syndrome [RCV001162049]	uncertain significance	6	57188644	57188644	Human	2	name , trait
28867714	CV896687	single nucleotide variant	NM_016277.5(RAB23):c.*1740C>T	RAB23-related Carpenter syndrome [RCV001162050]	benign	6	57188721	57188721	Human	2	name , trait
28871659	CV896688	single nucleotide variant	NM_016277.5(RAB23):c.*1706T>C	RAB23-related Carpenter syndrome [RCV001164059]	likely benign	6	57188755	57188755	Human	2	name , trait
28871663	CV896689	single nucleotide variant	NM_016277.5(RAB23):c.*1536T>G	RAB23-related Carpenter syndrome [RCV001164060]	uncertain significance	6	57188925	57188925	Human	2	name , trait
28871665	CV896690	single nucleotide variant	NM_016277.5(RAB23):c.*1534T>G	RAB23-related Carpenter syndrome [RCV001164061]	uncertain significance	6	57188927	57188927	Human	2	name , trait
28871668	CV896691	single nucleotide variant	NM_016277.5(RAB23):c.*1494A>G	RAB23-related Carpenter syndrome [RCV001164062]	uncertain significance	6	57188967	57188967	Human	2	name , trait
28906788	CV896692	single nucleotide variant	NM_016277.5(RAB23):c.*1131C>G	RAB23-related Carpenter syndrome [RCV001159149]	uncertain significance	6	57189330	57189330	Human	2	name , trait
28906791	CV896693	single nucleotide variant	NM_016277.5(RAB23):c.*1052T>C	RAB23-related Carpenter syndrome [RCV001159150]	uncertain significance	6	57189409	57189409	Human	2	name , trait
28906976	CV900251	single nucleotide variant	NM_016277.5(RAB23):c.156-9T>C	Carpenter syndrome [RCV001395559]\|RAB23-related Carpenter syndrome [RCV001159251]	likely benign\|uncertain significance	6	57207722	57207722	Human	2	name , trait
127281366	CV1073798	single nucleotide variant	NM_016277.5(RAB23):c.574+10T>C	Carpenter syndrome [RCV001410421]	likely benign	6	57193832	57193832	Human	1	name
127308199	CV1137876	single nucleotide variant	NM_016277.5(RAB23):c.398+10C>T	Carpenter syndrome [RCV001480550]\|RAB23-related disorder [RCV003938859]	likely benign	6	57196440	57196440	Human	2	name , trait , alternate_id
150411120	CV1190533	single nucleotide variant	NM_016277.5(RAB23):c.574+28G>A	not provided [RCV001566408]	likely benign	6	57193814	57193814	Human		name
150432403	CV1200634	single nucleotide variant	NM_016277.5(RAB23):c.482-66T>A	not provided [RCV001581357]	likely benign	6	57194000	57194000	Human		name
152149673	CV1555689	single nucleotide variant	NM_016277.5(RAB23):c.482-13C>G	Carpenter syndrome [RCV002179253]	likely benign	6	57193947	57193947	Human	1	name
152119614	CV1654703	single nucleotide variant	NM_016277.5(RAB23):c.241+10A>G	Carpenter syndrome [RCV002216601]	likely benign	6	57207618	57207618	Human	1	name
155956303	CV1915454	single nucleotide variant	NM_016277.5(RAB23):c.481+17G>A	Carpenter syndrome [RCV002616494]	benign	6	57194753	57194753	Human	1	name
156083832	CV2169285	duplication	NM_016277.5(RAB23):c.399-15dup	Carpenter syndrome [RCV003037977]	benign	6	57194866	57194867	Human	1	name
405200337	CV2895582	single nucleotide variant	NM_016277.5(RAB23):c.575-12C>A	Carpenter syndrome [RCV003591138]	likely benign	6	57190612	57190612	Human	1	name
405201853	CV2896244	single nucleotide variant	NM_016277.5(RAB23):c.575-15C>T	Carpenter syndrome [RCV003591248]	likely benign	6	57190615	57190615	Human	1	name
405042782	CV2925678	deletion	NM_016277.5(RAB23):c.481+18del	Carpenter syndrome [RCV003592069]	likely benign	6	57194752	57194752	Human	1	name
405043211	CV2926356	deletion	NM_016277.5(RAB23):c.481+16del	Carpenter syndrome [RCV003592130]	likely benign	6	57194754	57194754	Human	1	name
405044026	CV2927276	single nucleotide variant	NM_016277.5(RAB23):c.398+18G>A	Carpenter syndrome [RCV003592197]	likely benign	6	57196432	57196432	Human	1	name
405161302	CV2940059	single nucleotide variant	NM_016277.5(RAB23):c.155+11G>C	Carpenter syndrome [RCV003757297]	likely benign	6	57210215	57210215	Human	1	name
405161505	CV2940850	single nucleotide variant	NM_016277.5(RAB23):c.481+19A>G	Carpenter syndrome [RCV003757315]	likely benign	6	57194751	57194751	Human	1	name
405162805	CV2952261	single nucleotide variant	NM_016277.5(RAB23):c.156-14A>G	Carpenter syndrome [RCV003757404]	likely benign	6	57207727	57207727	Human	1	name
405166536	CV3017261	single nucleotide variant	NM_016277.5(RAB23):c.482-10T>C	Carpenter syndrome [RCV003757779]	likely benign	6	57193944	57193944	Human	1	name
405167280	CV3019047	single nucleotide variant	NM_016277.5(RAB23):c.574+20T>G	Carpenter syndrome [RCV003757824]	likely benign	6	57193822	57193822	Human	1	name
405170723	CV3039822	single nucleotide variant	NM_016277.5(RAB23):c.155+17T>C	Carpenter syndrome [RCV003757956]	likely benign	6	57210209	57210209	Human	1	name
405156461	CV3056809	single nucleotide variant	NM_016277.5(RAB23):c.155+11G>A	Carpenter syndrome [RCV003756817]	likely benign	6	57210215	57210215	Human	1	name
405159319	CV3072818	single nucleotide variant	NM_016277.5(RAB23):c.399-15T>A	Carpenter syndrome [RCV003757045]	likely benign	6	57194867	57194867	Human	1	name
405160320	CV3074417	single nucleotide variant	NM_016277.5(RAB23):c.241+16T>G	Carpenter syndrome [RCV003757132]\|not provided [RCV004704919]	likely benign	6	57207612	57207612	Human	1	name
405159437	CV3078637	single nucleotide variant	NM_016277.5(RAB23):c.242-20G>C	Carpenter syndrome [RCV003757055]	likely benign	6	57196626	57196626	Human	1	name
405159706	CV3079015	single nucleotide variant	NM_016277.5(RAB23):c.482-12T>G	Carpenter syndrome [RCV003757077]	likely benign	6	57193946	57193946	Human	1	name
405215239	CV3124550	single nucleotide variant	NM_016277.5(RAB23):c.482-14T>G	Carpenter syndrome [RCV003823912]	likely benign	6	57193948	57193948	Human	1	name
405132172	CV3133450	single nucleotide variant	NM_016277.5(RAB23):c.482-20G>A	Carpenter syndrome [RCV003838420]	likely benign	6	57193954	57193954	Human	1	name
405203258	CV3143951	deletion	NM_016277.5(RAB23):c.482-20del	Carpenter syndrome [RCV003844741]	likely benign	6	57193954	57193954	Human	1	name
408372089	CV3517983	single nucleotide variant	NM_016277.5(RAB23):c.575-10A>G	RAB23-related disorder [RCV004742187]	uncertain significance	6	57190610	57190610	Human		name , trait , alternate_id
28871890	CV900250	single nucleotide variant	NM_016277.5(RAB23):c.399-14A>T	RAB23-related Carpenter syndrome [RCV001164154]	uncertain significance	6	57194866	57194866	Human	2	name , trait
40904852	CV978244	single nucleotide variant	NM_016277.5(RAB23):c.481+10C>T	Carpenter syndrome [RCV002069416]\|RAB23-related Carpenter syndrome [RCV001277916]\|RAB23-related disorder [RCV003953621]	likely benign\|uncertain significance	6	57194760	57194760	Human	2	name , trait , alternate_id
150485115	CV1222636	deletion	NM_016277.5(RAB23):c.155+174del	not provided [RCV001617639]	benign	6	57210052	57210052	Human		name
150456232	CV1249586	single nucleotide variant	NM_016277.5(RAB23):c.155+113C>T	not provided [RCV001668801]	benign	6	57210113	57210113	Human		name
150483230	CV1261750	single nucleotide variant	NM_016277.5(RAB23):c.156-293A>G	not provided [RCV001686354]	benign	6	57208006	57208006	Human		name
150464636	CV1276439	single nucleotide variant	NM_016277.5(RAB23):c.399-170A>C	not provided [RCV001710385]	benign	6	57195022	57195022	Human		name
150437356	CV1286532	duplication	NM_016277.5(RAB23):c.155+165dup	not provided [RCV001724611]	benign	6	57210051	57210052	Human		name
152979701	CV1675734	single nucleotide variant	NM_016277.5(RAB23):c.575-170C>G	not provided [RCV002244325]	likely benign	6	57190770	57190770	Human		name
243059699	CV2413666	duplication	NM_016277.5(RAB23):c.-66+5021dup	RAB23-related Carpenter syndrome [RCV003135197]	uncertain significance	6	57216704	57216705	Human	2	name , trait
11655618	CV308444	microsatellite	NM_016277.5(RAB23):c.*600AATT[1]	Carpenter syndrome [RCV000326936]	uncertain significance	6	57189854	57189857	Human		name
151786554	CV1395555	deletion	NM_016277.5(RAB23):c.482-1_486del	Carpenter syndrome [RCV002010246]	likely pathogenic	6	57193930	57193935	Human	1	name
11635804	CV308427	microsatellite	NM_016277.5(RAB23):c.*1180ATCA[3]	Carpenter syndrome [RCV000393022]	uncertain significance	6	57189273	57189274	Human		name
152066458	CV1647017	microsatellite	NM_016277.5(RAB23):c.242-31ATTG[4]	Carpenter syndrome [RCV002129042]	likely benign	6	57196618	57196621	Human		name
11598134	CV303774	microsatellite	NM_016277.5(RAB23):c.242-31ATTG[6]	Carpenter syndrome [RCV000401730]\|not provided [RCV001560987]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	57196617	57196618	Human		name
597900492	CV3835385	microsatellite	NM_016277.5(RAB23):c.242-31ATTG[3]	Carpenter syndrome [RCV005181108]	likely benign	6	57196618	57196625	Human		name
156261373	CV2191034	deletion	NM_016277.5(RAB23):c.156-9_156-8del	Carpenter syndrome [RCV003044129]	likely benign	6	57207721	57207722	Human	1	name
11663178	CV303735	duplication	NM_016277.5(RAB23):c.1665_1667dup	Carpenter syndrome [RCV000393034]	uncertain significance	6	57188793	57188794	Human	1	name
15188031	CV775242	duplication	NM_016277.5(RAB23):c.575-8_575-5dup	Carpenter syndrome [RCV001405143]	likely benign	6	57190604	57190605	Human	1	name
15111248	CV782594	single nucleotide variant	NM_016277.5(RAB23):c.4T>C (p.Leu2=)	Carpenter syndrome [RCV001430160]	likely benign	6	57210377	57210377	Human	1	name
127244465	CV1095389	single nucleotide variant	NM_016277.5(RAB23):c.24C>T (p.Val8=)	Carpenter syndrome [RCV001435037]\|not provided [RCV002264319]	likely benign	6	57210357	57210357	Human	1	name
156108812	CV2161139	single nucleotide variant	NM_016277.5(RAB23):c.21A>G (p.Glu7=)	Carpenter syndrome [RCV003038859]	likely benign	6	57210360	57210360	Human	1	name
405045168	CV2930126	single nucleotide variant	NM_016277.5(RAB23):c.27C>T (p.Ala9=)	Carpenter syndrome [RCV003592236]	likely benign	6	57210354	57210354	Human	1	name
405165385	CV3003732	single nucleotide variant	NM_016277.5(RAB23):c.12A>G (p.Glu4=)	Carpenter syndrome [RCV003757662]	likely benign	6	57210369	57210369	Human	1	name
14713255	CV635117	deletion	NM_016277.5(RAB23):c.5del (p.Leu2fs)	Carpenter syndrome [RCV000823068]	pathogenic	6	57210376	57210376	Human	1	name
15114780	CV710572	single nucleotide variant	NM_016277.5(RAB23):c.15T>C (p.Asp5=)	not provided [RCV000961737]	likely benign	6	57210366	57210366	Human		name
127277958	CV1073806	single nucleotide variant	NM_016277.5(RAB23):c.51T>C (p.Asn17=)	Carpenter syndrome [RCV001408179]\|RAB23-related Carpenter syndrome [RCV001831442]\|RAB23-related disorder [RCV003908590]	likely benign	6	57210330	57210330	Human	2	name , trait , alternate_id
127255446	CV1095388	single nucleotide variant	NM_016277.5(RAB23):c.57A>G (p.Ala19=)	Carpenter syndrome [RCV001426579]	likely benign	6	57210324	57210324	Human	1	name
150428604	CV1187110	microsatellite	NM_016277.5(RAB23):c.481+68_481+70del	not provided [RCV001562476]	likely benign	6	57194700	57194702	Human		name
152172986	CV1641800	single nucleotide variant	NM_016277.5(RAB23):c.60T>G (p.Val20=)	Carpenter syndrome [RCV002184025]	likely benign	6	57210321	57210321	Human	1	name
155266591	CV1699161	single nucleotide variant	NM_016277.5(RAB23):c.1A>C (p.Met1Leu)	not specified [RCV002282956]	uncertain significance	6	57210380	57210380	Human		name
155979127	CV2081846	single nucleotide variant	NM_016277.5(RAB23):c.33G>A (p.Lys11=)	Carpenter syndrome [RCV002863681]	likely benign	6	57210348	57210348	Human	1	name
156296522	CV2119265	single nucleotide variant	NM_016277.5(RAB23):c.90C>T (p.Cys30=)	Carpenter syndrome [RCV002961943]	likely benign	6	57210291	57210291	Human	1	name
405047908	CV2863275	single nucleotide variant	NM_016277.5(RAB23):c.48G>T (p.Gly16=)	Carpenter syndrome [RCV003592578]	likely benign	6	57210333	57210333	Human	1	name
405055744	CV2890832	single nucleotide variant	NM_016277.5(RAB23):c.57A>C (p.Ala19=)	Carpenter syndrome [RCV003593277]	likely benign	6	57210324	57210324	Human	1	name
405039954	CV2911071	single nucleotide variant	NM_016277.5(RAB23):c.48G>A (p.Gly16=)	Carpenter syndrome [RCV003591563]	likely benign	6	57210333	57210333	Human	1	name
405171111	CV3043567	microsatellite	NM_016277.5(RAB23):c.156-20_156-17del	Carpenter syndrome [RCV003758012]	likely benign	6	57207730	57207733	Human		name
408371781	CV3507778	deletion	NM_016277.5(RAB23):c.575-11_575-10del	RAB23-related disorder [RCV004741914]	likely benign	6	57190610	57190611	Human		name , trait , alternate_id
15179547	CV699636	single nucleotide variant	NM_016277.5(RAB23):c.54A>G (p.Gly18=)	Carpenter syndrome [RCV000951544]\|RAB23-related Carpenter syndrome [RCV001159254]\|RAB23-related disorder [RCV003925944]	likely benign\|uncertain significance	6	57210327	57210327	Human	2	name , trait , alternate_id
15139971	CV750130	single nucleotide variant	NM_016277.5(RAB23):c.48G>C (p.Gly16=)	Carpenter syndrome [RCV000921603]\|RAB23-related Carpenter syndrome [RCV001825859]	likely benign	6	57210333	57210333	Human	2	name , trait
28906980	CV896705	single nucleotide variant	NM_016277.5(RAB23):c.93A>G (p.Lys31=)	Carpenter syndrome [RCV001510380]\|RAB23-related Carpenter syndrome [RCV001159253]	benign\|uncertain significance	6	57210288	57210288	Human	2	name , trait
38497815	CV945107	deletion	NM_016277.5(RAB23):c.17del (p.Met6fs)	Carpenter syndrome [RCV001227329]	pathogenic	6	57210364	57210364	Human	1	name
127235680	CV1060780	deletion	NM_016277.5(RAB23):c.82del (p.Arg28fs)	Carpenter syndrome [RCV001382455]	pathogenic	6	57210299	57210299	Human	1	name
127233046	CV1073802	single nucleotide variant	NM_016277.5(RAB23):c.261C>T (p.Leu87=)	Carpenter syndrome [RCV001413724]	likely benign	6	57196587	57196587	Human	1	name
127263320	CV1073804	single nucleotide variant	NM_016277.5(RAB23):c.132T>G (p.Val44=)	Carpenter syndrome [RCV001402968]	likely benign	6	57210249	57210249	Human	1	name
127277094	CV1073805	single nucleotide variant	NM_016277.5(RAB23):c.114C>T (p.Tyr38=)	Carpenter syndrome [RCV001407558]	likely benign	6	57210267	57210267	Human	1	name
127255905	CV1095386	single nucleotide variant	NM_016277.5(RAB23):c.285A>G (p.Glu95=)	Carpenter syndrome [RCV001426704]	likely benign	6	57196563	57196563	Human	1	name
127269064	CV1095387	single nucleotide variant	NM_016277.5(RAB23):c.261C>G (p.Leu87=)	Carpenter syndrome [RCV001440971]	likely benign	6	57196587	57196587	Human	1	name
127318251	CV1116945	single nucleotide variant	NM_016277.5(RAB23):c.234C>T (p.Tyr78=)	Carpenter syndrome [RCV001466121]	likely benign	6	57207635	57207635	Human	1	name
127314734	CV1116946	single nucleotide variant	NM_016277.5(RAB23):c.184T>C (p.Leu62=)	Carpenter syndrome [RCV001465050]\|RAB23-related disorder [RCV003980385]	likely benign	6	57207685	57207685	Human	2	name , trait , alternate_id
127315307	CV1116947	single nucleotide variant	NM_016277.5(RAB23):c.117G>A (p.Lys39=)	Carpenter syndrome [RCV001465183]\|RAB23-related disorder [RCV004743511]	likely benign	6	57210264	57210264	Human	2	name , trait , alternate_id
152052568	CV1531694	single nucleotide variant	NM_016277.5(RAB23):c.186A>G (p.Leu62=)	Carpenter syndrome [RCV002072560]	likely benign	6	57207683	57207683	Human	1	name
152076361	CV1581427	single nucleotide variant	NM_016277.5(RAB23):c.105A>G (p.Thr35=)	Carpenter syndrome [RCV002112158]	likely benign	6	57210276	57210276	Human	1	name
156258452	CV1875582	single nucleotide variant	NM_016277.5(RAB23):c.279T>C (p.Asp93=)	Carpenter syndrome [RCV003060275]	likely benign	6	57196569	57196569	Human	1	name
156374302	CV2003857	single nucleotide variant	NM_016277.5(RAB23):c.14A>T (p.Asp5Val)	Carpenter syndrome [RCV002653163]	uncertain significance	6	57210367	57210367	Human	1	name
155961289	CV2089048	single nucleotide variant	NM_016277.5(RAB23):c.139T>C (p.Leu47=)	Carpenter syndrome [RCV002881030]	likely benign	6	57210242	57210242	Human	1	name
156115597	CV2093161	single nucleotide variant	NM_016277.5(RAB23):c.108A>G (p.Lys36=)	Carpenter syndrome [RCV002913953]	likely benign	6	57210273	57210273	Human	1	name
155968131	CV2180261	single nucleotide variant	NM_016277.5(RAB23):c.273C>T (p.Thr91=)	Carpenter syndrome [RCV003033265]	likely benign	6	57196575	57196575	Human	1	name
401918143	CV2795516	single nucleotide variant	NM_016277.5(RAB23):c.17T>G (p.Met6Arg)	Bladder exstrophy-epispadias-cloacal extrophy complex [RCV003389440]	uncertain significance	6	57210364	57210364	Human	1	name
401920161	CV2796460	single nucleotide variant	NM_016277.5(RAB23):c.17T>C (p.Met6Thr)	RAB23-related disorder [RCV003402496]	uncertain significance	6	57210364	57210364	Human		name , trait , alternate_id
401925571	CV2820471	single nucleotide variant	NM_016277.5(RAB23):c.174C>T (p.Val58=)	not provided [RCV003436623]	likely benign	6	57207695	57207695	Human		name
405046645	CV2861693	single nucleotide variant	NM_016277.5(RAB23):c.273C>G (p.Thr91=)	Carpenter syndrome [RCV003592470]	likely benign	6	57196575	57196575	Human	1	name
405037890	CV2912300	single nucleotide variant	NM_016277.5(RAB23):c.177A>G (p.Arg59=)	Carpenter syndrome [RCV003591359]	likely benign	6	57207692	57207692	Human	1	name
405043739	CV2932786	single nucleotide variant	NM_016277.5(RAB23):c.126T>C (p.Ile42=)	Carpenter syndrome [RCV003592172]	likely benign	6	57210255	57210255	Human	1	name
405163978	CV2988883	single nucleotide variant	NM_016277.5(RAB23):c.207G>A (p.Glu69=)	Carpenter syndrome [RCV003757530]	likely benign	6	57207662	57207662	Human	1	name
405159627	CV3073501	single nucleotide variant	NM_016277.5(RAB23):c.165T>C (p.Asp55=)	Carpenter syndrome [RCV003757070]	likely benign	6	57207704	57207704	Human	1	name
405286970	CV3193031	single nucleotide variant	NM_016277.5(RAB23):c.252T>G (p.Ala84=)	RAB23-related disorder [RCV003981703]	likely benign	6	57196596	57196596	Human		name , trait , alternate_id
408379684	CV3507099	single nucleotide variant	NM_016277.5(RAB23):c.15T>A (p.Asp5Glu)	RAB23-related disorder [RCV004728535]	uncertain significance	6	57210366	57210366	Human		name , trait , alternate_id
408371881	CV3516945	single nucleotide variant	NM_016277.5(RAB23):c.156A>G (p.Gln52=)	Inborn genetic diseases [RCV005264560]\|RAB23-related disorder [RCV004742014]	likely benign	6	57207713	57207713	Human	2	name , trait , alternate_id
597927156	CV3783217	single nucleotide variant	NM_016277.5(RAB23):c.135T>C (p.Asp45=)	Carpenter syndrome [RCV005115903]	likely benign	6	57210246	57210246	Human	1	name
13606915	CV522477	single nucleotide variant	NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)	Carpenter syndrome [RCV002529883]\|RAB23-related Carpenter syndrome [RCV000638833]\|RAB23-related disorder [RCV004742549]	uncertain significance	6	57210356	57210356	Human	2	name , trait , alternate_id
15185734	CV722088	single nucleotide variant	NM_016277.5(RAB23):c.171T>C (p.Asp57=)	Carpenter syndrome [RCV000886778]\|RAB23-related Carpenter syndrome [RCV001830940]\|RAB23-related disorder [RCV003968058]	likely benign	6	57207698	57207698	Human	2	name , trait , alternate_id
15158941	CV735716	single nucleotide variant	NM_016277.5(RAB23):c.255T>C (p.Cys85=)	Carpenter syndrome [RCV001455537]\|RAB23-related Carpenter syndrome [RCV001277917]\|RAB23-related disorder [RCV003895498]	likely benign	6	57196593	57196593	Human	2	name , trait , alternate_id
28906977	CV896704	single nucleotide variant	NM_016277.5(RAB23):c.123C>T (p.Thr41=)	Carpenter syndrome [RCV001439461]\|RAB23-related Carpenter syndrome [RCV001159252]\|RAB23-related disorder [RCV003938527]	likely benign\|uncertain significance	6	57210258	57210258	Human	2	name , trait , alternate_id
40904853	CV978245	single nucleotide variant	NM_016277.5(RAB23):c.222T>C (p.Ile74=)	Carpenter syndrome [RCV001409470]\|RAB23-related Carpenter syndrome [RCV001277918]\|RAB23-related disorder [RCV004743379]	likely benign\|uncertain significance	6	57207647	57207647	Human	2	name , trait , alternate_id
127282293	CV1073797	single nucleotide variant	NM_016277.5(RAB23):c.627C>T (p.Leu209=)	Carpenter syndrome [RCV001411042]	likely benign	6	57190548	57190548	Human	1	name
127231680	CV1073801	single nucleotide variant	NM_016277.5(RAB23):c.351A>G (p.Val117=)	Carpenter syndrome [RCV001395424]	likely benign	6	57196497	57196497	Human	1	name
127248538	CV1095379	single nucleotide variant	NM_016277.5(RAB23):c.675G>A (p.Lys225=)	Carpenter syndrome [RCV001435856]	likely benign	6	57190500	57190500	Human	1	name
127279962	CV1095380	single nucleotide variant	NM_016277.5(RAB23):c.603C>T (p.His201=)	Carpenter syndrome [RCV001446123]\|RAB23-related disorder [RCV004743494]	likely benign	6	57190572	57190572	Human	2	name , trait , alternate_id
127232303	CV1095381	single nucleotide variant	NM_016277.5(RAB23):c.594T>G (p.Gly198=)	Carpenter syndrome [RCV001421260]\|RAB23-related disorder [RCV004743475]	likely benign\|uncertain significance	6	57190581	57190581	Human	2	name , trait , alternate_id
127246626	CV1095383	single nucleotide variant	NM_016277.5(RAB23):c.555T>C (p.His185=)	Carpenter syndrome [RCV001435458]	likely benign	6	57193861	57193861	Human	1	name
127259071	CV1095385	single nucleotide variant	NM_016277.5(RAB23):c.333G>A (p.Val111=)	Carpenter syndrome [RCV001438288]	likely benign	6	57196515	57196515	Human	1	name
127310341	CV1137873	single nucleotide variant	NM_016277.5(RAB23):c.699C>T (p.Ser233=)	Carpenter syndrome [RCV001501308]	likely benign	6	57190476	57190476	Human	1	name
127297375	CV1137874	single nucleotide variant	NM_016277.5(RAB23):c.642C>T (p.Val214=)	Carpenter syndrome [RCV001497760]	likely benign	6	57190533	57190533	Human	1	name
127310334	CV1137875	single nucleotide variant	NM_016277.5(RAB23):c.606C>T (p.Ser202=)	Carpenter syndrome [RCV001501304]\|RAB23-related disorder [RCV004728746]	likely benign	6	57190569	57190569	Human	2	name , trait , alternate_id
127323345	CV1137877	single nucleotide variant	NM_016277.5(RAB23):c.327C>T (p.Ala109=)	Carpenter syndrome [RCV001485206]\|RAB23-related disorder [RCV003900678]	likely benign	6	57196521	57196521	Human	2	name , trait , alternate_id
151829802	CV1384314	single nucleotide variant	NM_016277.5(RAB23):c.390T>C (p.Cys130=)	Carpenter syndrome [RCV001955566]	likely benign	6	57196458	57196458	Human	1	name
152154998	CV1520152	single nucleotide variant	NM_016277.5(RAB23):c.429A>G (p.Leu143=)	Carpenter syndrome [RCV002140061]	likely benign	6	57194822	57194822	Human	1	name
152112247	CV1520718	single nucleotide variant	NM_016277.5(RAB23):c.693T>C (p.Phe231=)	Carpenter syndrome [RCV002196932]	likely benign	6	57190482	57190482	Human	1	name
152027565	CV1520877	single nucleotide variant	NM_016277.5(RAB23):c.549A>G (p.Leu183=)	Carpenter syndrome [RCV002085171]	likely benign	6	57193867	57193867	Human	1	name
152133595	CV1547238	single nucleotide variant	NM_016277.5(RAB23):c.426G>A (p.Arg142=)	Carpenter syndrome [RCV002155855]	likely benign	6	57194825	57194825	Human	1	name
152149368	CV1569313	single nucleotide variant	NM_016277.5(RAB23):c.510T>C (p.Leu170=)	Carpenter syndrome [RCV002220558]	likely benign	6	57193906	57193906	Human	1	name
152054523	CV1574321	single nucleotide variant	NM_016277.5(RAB23):c.582T>C (p.Phe194=)	Carpenter syndrome [RCV002189800]	likely benign	6	57190593	57190593	Human	1	name
152171641	CV1597690	single nucleotide variant	NM_016277.5(RAB23):c.552G>C (p.Thr184=)	Carpenter syndrome [RCV002162184]\|RAB23-related disorder [RCV003893113]	likely benign	6	57193864	57193864	Human	2	name , trait , alternate_id
152164050	CV1604972	single nucleotide variant	NM_016277.5(RAB23):c.576T>G (p.Gly192=)	Carpenter syndrome [RCV002203956]	likely benign	6	57190599	57190599	Human	1	name
152164729	CV1625535	single nucleotide variant	NM_016277.5(RAB23):c.547C>T (p.Leu183=)	Carpenter syndrome [RCV002160306]	likely benign	6	57193869	57193869	Human	1	name
152077546	CV1630918	single nucleotide variant	NM_016277.5(RAB23):c.435A>G (p.Leu145=)	Carpenter syndrome [RCV002130426]	likely benign	6	57194816	57194816	Human	1	name
155741405	CV1779996	single nucleotide variant	NM_016277.5(RAB23):c.83G>A (p.Arg28Gln)	not specified [RCV002302600]	uncertain significance	6	57210298	57210298	Human		name
156219896	CV2083825	single nucleotide variant	NM_016277.5(RAB23):c.453A>C (p.Ser151=)	Carpenter syndrome [RCV002875827]	likely benign	6	57194798	57194798	Human	1	name
156040080	CV2187857	single nucleotide variant	NM_016277.5(RAB23):c.376C>T (p.Leu126=)	Carpenter syndrome [RCV003036533]	likely benign	6	57196472	57196472	Human	1	name
11588782	CV264297	single nucleotide variant	NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	Carpenter syndrome [RCV001034654]\|RAB23-related Carpenter syndrome [RCV000546008]\|RAB23-related disorder [RCV003930036]\|not provided [RCV000305521]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	57210299	57210299	Human	2	name , trait , alternate_id
401883380	CV2785592	single nucleotide variant	NM_016277.5(RAB23):c.86A>G (p.Tyr29Cys)	Inborn genetic diseases [RCV003386097]	uncertain significance	6	57210295	57210295	Human	1	name
405201819	CV2907477	single nucleotide variant	NM_016277.5(RAB23):c.312A>G (p.Arg104=)	Carpenter syndrome [RCV003591324]	likely benign	6	57196536	57196536	Human	1	name
405201928	CV2911984	single nucleotide variant	NM_016277.5(RAB23):c.525A>G (p.Gln175=)	Carpenter syndrome [RCV003591338]	likely benign	6	57193891	57193891	Human	1	name
405039124	CV2916953	single nucleotide variant	NM_016277.5(RAB23):c.321A>C (p.Val107=)	Carpenter syndrome [RCV003591483]	likely benign	6	57196527	57196527	Human	1	name
405162639	CV2951398	single nucleotide variant	NM_016277.5(RAB23):c.552G>T (p.Thr184=)	Carpenter syndrome [RCV003757390]	likely benign	6	57193864	57193864	Human	1	name
405164296	CV2986866	single nucleotide variant	NM_016277.5(RAB23):c.357G>A (p.Val119=)	Carpenter syndrome [RCV003757558]	likely benign	6	57196491	57196491	Human	1	name
405165471	CV3003938	single nucleotide variant	NM_016277.5(RAB23):c.474G>A (p.Val158=)	Carpenter syndrome [RCV003757671]	likely benign	6	57194777	57194777	Human	1	name
11596102	CV303741	single nucleotide variant	NM_016277.5(RAB23):c.714A>G (p.Ter238=)	Carpenter syndrome [RCV003757175]\|RAB23-related Carpenter syndrome [RCV000378298]	likely benign\|uncertain significance	6	57190461	57190461	Human	2	name , trait
405159044	CV3062972	single nucleotide variant	NM_016277.5(RAB23):c.495G>A (p.Leu165=)	Carpenter syndrome [RCV003757022]	likely benign	6	57193921	57193921	Human	1	name
8558166	CV33465	duplication	NM_016277.5(RAB23):c.86dup (p.Tyr29Ter)	RAB23-related Carpenter syndrome [RCV000004855]	pathogenic	6	57210294	57210295	Human	2	name , trait
408383049	CV3506305	single nucleotide variant	NM_016277.5(RAB23):c.32A>G (p.Lys11Arg)	RAB23-related disorder [RCV004730339]	uncertain significance	6	57210349	57210349	Human		name , trait , alternate_id
408373421	CV3515619	single nucleotide variant	NM_016277.5(RAB23):c.28A>G (p.Ile10Val)	RAB23-related disorder [RCV004744936]	uncertain significance	6	57210353	57210353	Human		name , trait , alternate_id
597925999	CV3783244	single nucleotide variant	NM_016277.5(RAB23):c.528A>G (p.Gln176=)	Carpenter syndrome [RCV005115930]	likely benign	6	57193888	57193888	Human	1	name
597918063	CV3811262	single nucleotide variant	NM_016277.5(RAB23):c.450A>G (p.Thr150=)	Carpenter syndrome [RCV005155297]	likely benign	6	57194801	57194801	Human	1	name
597861003	CV3880762	deletion	NM_016277.5(RAB23):c.208del (p.Glu70fs)	RAB23-related Carpenter syndrome [RCV005229596]	pathogenic	6	57207661	57207661	Human	2	name , trait
15102561	CV686905	single nucleotide variant	NM_016277.5(RAB23):c.552G>A (p.Thr184=)	Carpenter syndrome [RCV000870484]\|RAB23-related Carpenter syndrome [RCV001271834]\|RAB23-related disorder [RCV003930382]	likely benign	6	57193864	57193864	Human	2	name , trait , alternate_id
15098319	CV750129	single nucleotide variant	NM_016277.5(RAB23):c.534T>C (p.Ala178=)	Carpenter syndrome [RCV000914219]\|RAB23-related Carpenter syndrome [RCV001836010]\|RAB23-related disorder [RCV004743188]	benign\|likely benign	6	57193882	57193882	Human	2	name , trait , alternate_id
15148626	CV765761	single nucleotide variant	NM_016277.5(RAB23):c.387T>C (p.Ser129=)	Carpenter syndrome [RCV001438183]	likely benign	6	57196461	57196461	Human	1	name
15128944	CV782593	single nucleotide variant	NM_016277.5(RAB23):c.507C>T (p.Tyr169=)	Carpenter syndrome [RCV000980796]	likely benign	6	57193909	57193909	Human	1	name
38473532	CV933391	single nucleotide variant	NM_016277.5(RAB23):c.90C>G (p.Cys30Trp)	Carpenter syndrome [RCV001203498]\|RAB23-related Carpenter syndrome [RCV001836135]\|RAB23-related disorder [RCV003398927]	uncertain significance	6	57210291	57210291	Human	2	name , trait , alternate_id
127257043	CV1060779	single nucleotide variant	NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)	Carpenter syndrome [RCV001386671]	pathogenic\|likely pathogenic	6	57210236	57210236	Human	1	name
150451371	CV1200462	deletion	NM_016277.5(RAB23):c.559del (p.Ser187fs)	RAB23-related Carpenter syndrome [RCV001580770]	likely pathogenic	6	57193857	57193857	Human	2	name , trait
156295880	CV2065311	deletion	NM_016277.5(RAB23):c.426del (p.Arg142fs)	Carpenter syndrome [RCV002856938]	pathogenic	6	57194825	57194825	Human	1	name
10409051	CV207422	single nucleotide variant	NM_016277.5(RAB23):c.218C>T (p.Ala73Val)	Carpenter syndrome [RCV000917274]\|RAB23-related Carpenter syndrome [RCV001159250]\|not provided [RCV001567378]\|not specified [RCV000193841]	likely benign\|uncertain significance	6	57207651	57207651	Human	2	name , trait
156333515	CV2172046	duplication	NM_016277.5(RAB23):c.522dup (p.Gln175fs)	Carpenter syndrome [RCV003029900]	uncertain significance	6	57193893	57193894	Human	1	name
156338203	CV2271234	single nucleotide variant	NM_016277.5(RAB23):c.224C>G (p.Thr75Arg)	Inborn genetic diseases [RCV002835994]	uncertain significance	6	57207645	57207645	Human	1	name
155939673	CV2293953	single nucleotide variant	NM_016277.5(RAB23):c.131T>C (p.Val44Ala)	Inborn genetic diseases [RCV002879471]	uncertain significance	6	57210250	57210250	Human	1	name
401913503	CV2797367	single nucleotide variant	NM_016277.5(RAB23):c.262G>A (p.Val88Met)	Inborn genetic diseases [RCV005264408]\|RAB23-related disorder [RCV003427868]	uncertain significance	6	57196586	57196586	Human	2	name , trait , alternate_id
405000186	CV2852673	deletion	NM_016277.5(RAB23):c.467del (p.Leu156fs)	Carpenter syndrome [RCV003493349]	pathogenic	6	57194784	57194784	Human	1	name
405201470	CV2896054	single nucleotide variant	NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)	Carpenter syndrome [RCV003591191]	pathogenic	6	57207631	57207631	Human	1	name
405274658	CV3209062	single nucleotide variant	NM_016277.5(RAB23):c.236A>G (p.Tyr79Cys)	Inborn genetic diseases [RCV004953656]\|RAB23-related disorder [RCV003951818]	uncertain significance	6	57207633	57207633	Human	2	name , trait , alternate_id
8626242	CV81386	single nucleotide variant	NM_016277.5(RAB23):c.239G>A (p.Arg80Gln)	RAB23-related Carpenter syndrome [RCV000290712]	uncertain significance\|not provided	6	57207630	57207630	Human	2	name , trait
26896362	CV832154	single nucleotide variant	NM_016277.5(RAB23):c.244G>C (p.Ala82Pro)	Carpenter syndrome [RCV001064634]\|RAB23-related disorder [RCV004743276]	uncertain significance	6	57196604	57196604	Human	2	name , trait , alternate_id
28906973	CV896703	single nucleotide variant	NM_016277.5(RAB23):c.223A>T (p.Thr75Ser)	RAB23-related Carpenter syndrome [RCV001159249]	uncertain significance	6	57207646	57207646	Human	2	name , trait
38486179	CV945106	single nucleotide variant	NM_016277.5(RAB23):c.142G>T (p.Glu48Ter)	Carpenter syndrome [RCV001237096]	pathogenic	6	57210239	57210239	Human	1	name
126912819	CV1037726	single nucleotide variant	NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)	Carpenter syndrome [RCV002547648]\|Inborn genetic diseases [RCV002547647]\|RAB23-related Carpenter syndrome [RCV002504577]\|RAB23-related disorder [RCV003416258]\|not provided [RCV001356824]	uncertain significance	6	57196502	57196502	Human	3	name , trait , alternate_id
126921547	CV1044272	single nucleotide variant	NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)	Carpenter syndrome [RCV001363619]\|RAB23-related Carpenter syndrome [RCV001836364]\|See cases [RCV002287498]	likely pathogenic\|uncertain significance	6	57190463	57190463	Human	2	name , trait
127240751	CV1060778	single nucleotide variant	NM_016277.5(RAB23):c.421A>T (p.Lys141Ter)	Carpenter syndrome [RCV001383516]	pathogenic	6	57194830	57194830	Human	1	name
127232051	CV1095384	single nucleotide variant	NM_016277.5(RAB23):c.551C>T (p.Thr184Met)	Carpenter syndrome [RCV001421126]\|Inborn genetic diseases [RCV005262471]\|RAB23-related Carpenter syndrome [RCV001826228]\|RAB23-related disorder [RCV003405654]\|not provided [RCV004706125]	likely benign\|uncertain significance	6	57193865	57193865	Human	3	name , trait , alternate_id
151893242	CV1338006	single nucleotide variant	NM_016277.5(RAB23):c.526C>T (p.Gln176Ter)	Carpenter syndrome [RCV001944873]	pathogenic	6	57193890	57193890	Human	1	name
151887686	CV1341615	single nucleotide variant	NM_016277.5(RAB23):c.590C>T (p.Ser197Phe)	Carpenter syndrome [RCV001887812]	uncertain significance	6	57190585	57190585	Human	1	name
8596496	CV19630	single nucleotide variant	NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	Carpenter syndrome [RCV000791402]\|Inborn genetic diseases [RCV000622686]\|RAB23-related Carpenter syndrome [RCV000004853]\|RAB23-related disorder [RCV003415654]\|not provided [RCV000407501]	pathogenic	6	57194817	57194817	Human	3	name , trait , alternate_id
8558165	CV19631	duplication	NM_016277.5(RAB23):c.408dup (p.Glu137Ter)	Carpenter syndrome [RCV005089169]\|RAB23-related Carpenter syndrome [RCV000004854]\|RAB23-related disorder [RCV003415655]\|not provided [RCV004721242]	pathogenic	6	57194842	57194843	Human	2	name , trait , alternate_id
156172099	CV2133609	single nucleotide variant	NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)	Carpenter syndrome [RCV003005419]	uncertain significance	6	57190568	57190568	Human	1	name
156315320	CV2192885	single nucleotide variant	NM_016277.5(RAB23):c.611A>G (p.Gln204Arg)	Inborn genetic diseases [RCV002648568]\|RAB23-related disorder [RCV003420402]	uncertain significance	6	57190564	57190564	Human	2	name , trait , alternate_id
156114765	CV2208941	single nucleotide variant	NM_016277.5(RAB23):c.705C>A (p.Ser235Arg)	Inborn genetic diseases [RCV002707440]	uncertain significance	6	57190470	57190470	Human	1	name
156113232	CV2228658	single nucleotide variant	NM_016277.5(RAB23):c.323T>C (p.Val108Ala)	Inborn genetic diseases [RCV002761817]	uncertain significance	6	57196525	57196525	Human	1	name
156163575	CV2368500	single nucleotide variant	NM_016277.5(RAB23):c.412G>A (p.Ala138Thr)	Inborn genetic diseases [RCV002698416]	uncertain significance	6	57194839	57194839	Human	1	name
329367023	CV2442047	single nucleotide variant	NM_016277.5(RAB23):c.425G>C (p.Arg142Thr)	Inborn genetic diseases [RCV003208071]	uncertain significance	6	57194826	57194826	Human	1	name
401892277	CV2777385	single nucleotide variant	NM_016277.5(RAB23):c.365A>G (p.Lys122Arg)	Inborn genetic diseases [RCV003369867]	uncertain significance	6	57196483	57196483	Human	1	name
401926864	CV2798919	single nucleotide variant	NM_016277.5(RAB23):c.395A>C (p.Lys132Thr)	RAB23-related disorder [RCV003406088]	uncertain significance	6	57196453	57196453	Human		name , trait , alternate_id
401914954	CV2799362	single nucleotide variant	NM_016277.5(RAB23):c.546A>C (p.Glu182Asp)	RAB23-related Carpenter syndrome [RCV005399371]\|RAB23-related disorder [RCV003400478]	uncertain significance	6	57193870	57193870	Human	2	name , trait , alternate_id
405200718	CV2895967	insertion	NM_016277.5(RAB23):c.242-17_242-16insATTC	Carpenter syndrome [RCV003591187]	likely benign	6	57196622	57196623	Human	1	name
11592547	CV300842	single nucleotide variant	NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	Carpenter syndrome [RCV000339958]\|RAB23-related Carpenter syndrome [RCV001449940]\|RAB23-related disorder [RCV003972506]\|not provided [RCV000424519]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	57196547	57196547	Human	2	name , trait , alternate_id
11585175	CV303742	single nucleotide variant	NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)	Carpenter syndrome [RCV000279277]\|RAB23-related Carpenter syndrome [RCV001530494]\|not provided [RCV001764325]\|not specified [RCV001805026]	benign\|likely benign	6	57190556	57190556	Human	2	name , trait
11590058	CV303771	single nucleotide variant	NM_016277.5(RAB23):c.616T>A (p.Ser206Thr)	Inborn genetic diseases [RCV003243112]\|RAB23-related Carpenter syndrome [RCV000315595]	uncertain significance	6	57190559	57190559	Human	3	name , trait
11610268	CV308452	single nucleotide variant	NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)	Carpenter syndrome [RCV000379503]\|Inborn genetic diseases [RCV004022031]\|RAB23-related Carpenter syndrome [RCV001095268]\|RAB23-related disorder [RCV003409557]\|not provided [RCV005241357]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	57193880	57193880	Human	3	name , trait , alternate_id
405679624	CV3308588	single nucleotide variant	NM_016277.5(RAB23):c.385T>G (p.Ser129Ala)	Inborn genetic diseases [RCV004443044]	uncertain significance	6	57196463	57196463	Human	1	name
405679630	CV3308589	single nucleotide variant	NM_016277.5(RAB23):c.386C>A (p.Ser129Tyr)	Inborn genetic diseases [RCV004443045]	uncertain significance	6	57196462	57196462	Human	1	name
405679636	CV3308590	single nucleotide variant	NM_016277.5(RAB23):c.706A>G (p.Ile236Val)	Inborn genetic diseases [RCV004443046]	uncertain significance	6	57190469	57190469	Human	1	name
408371290	CV3503744	single nucleotide variant	NM_016277.5(RAB23):c.664C>A (p.Gln222Lys)	RAB23-related disorder [RCV004724620]	uncertain significance	6	57190511	57190511	Human		name , trait , alternate_id
408371130	CV3504847	single nucleotide variant	NM_016277.5(RAB23):c.608G>A (p.Gly203Asp)	RAB23-related disorder [RCV004724492]	uncertain significance	6	57190567	57190567	Human		name , trait , alternate_id
408379875	CV3505979	single nucleotide variant	NM_016277.5(RAB23):c.653G>C (p.Arg218Thr)	RAB23-related disorder [RCV004728654]	uncertain significance	6	57190522	57190522	Human		name , trait , alternate_id
408379535	CV3507082	single nucleotide variant	NM_016277.5(RAB23):c.563G>A (p.Ser188Asn)	RAB23-related disorder [RCV004728523]	uncertain significance	6	57193853	57193853	Human		name , trait , alternate_id
408371787	CV3507507	single nucleotide variant	NM_016277.5(RAB23):c.577G>T (p.Val193Phe)	RAB23-related disorder [RCV004741861]	uncertain significance	6	57190598	57190598	Human		name , trait , alternate_id
408371773	CV3507749	single nucleotide variant	NM_016277.5(RAB23):c.530T>C (p.Ile177Thr)	RAB23-related disorder [RCV004741905]	uncertain significance	6	57193886	57193886	Human		name , trait , alternate_id
408372397	CV3510071	single nucleotide variant	NM_016277.5(RAB23):c.341T>C (p.Ile114Thr)	RAB23-related disorder [RCV004742994]	uncertain significance	6	57196507	57196507	Human		name , trait , alternate_id
408372564	CV3511157	single nucleotide variant	NM_016277.5(RAB23):c.335G>T (p.Gly112Val)	RAB23-related disorder [RCV004743179]	uncertain significance	6	57196513	57196513	Human		name , trait , alternate_id
408372829	CV3512972	single nucleotide variant	NM_016277.5(RAB23):c.587C>A (p.Thr196Lys)	RAB23-related disorder [RCV004743960]	uncertain significance	6	57190588	57190588	Human		name , trait , alternate_id
408373176	CV3514335	single nucleotide variant	NM_016277.5(RAB23):c.631G>A (p.Gly211Ser)	RAB23-related disorder [RCV004744716]	uncertain significance	6	57190544	57190544	Human		name , trait , alternate_id
408373667	CV3516612	single nucleotide variant	NM_016277.5(RAB23):c.505T>C (p.Tyr169His)	RAB23-related disorder [RCV004745107]	uncertain significance	6	57193911	57193911	Human		name , trait , alternate_id
408383011	CV3518137	single nucleotide variant	NM_016277.5(RAB23):c.701G>C (p.Cys234Ser)	RAB23-related Carpenter syndrome [RCV004759460]	uncertain significance	6	57190474	57190474	Human	2	name , trait
597707113	CV3589010	single nucleotide variant	NM_016277.5(RAB23):c.490T>C (p.Tyr164His)	Inborn genetic diseases [RCV004957475]	uncertain significance	6	57193926	57193926	Human	1	name
597685422	CV3722482	single nucleotide variant	NM_016277.5(RAB23):c.394A>T (p.Lys132Ter)	RAB23-related Carpenter syndrome [RCV005045819]	likely pathogenic	6	57196454	57196454	Human	2	name , trait
598164033	CV3898546	single nucleotide variant	NM_016277.5(RAB23):c.340A>T (p.Ile114Leu)	Inborn genetic diseases [RCV005261646]	uncertain significance	6	57196508	57196508	Human	1	name
598164038	CV3898547	single nucleotide variant	NM_016277.5(RAB23):c.506A>G (p.Tyr169Cys)	Inborn genetic diseases [RCV005261647]	uncertain significance	6	57193910	57193910	Human	1	name
12892689	CV404641	single nucleotide variant	NM_016277.5(RAB23):c.481G>C (p.Val161Leu)	Carpenter syndrome [RCV000477736]	pathogenic	6	57194770	57194770	Human	1	name
13216064	CV428631	single nucleotide variant	NM_016277.5(RAB23):c.529A>C (p.Ile177Leu)	RAB23-related disorder [RCV004742458]\|not specified [RCV000503273]	uncertain significance	6	57193887	57193887	Human	1	name , trait , alternate_id
13806488	CV563677	single nucleotide variant	NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)	Carpenter syndrome [RCV002232842]	uncertain significance	6	57196511	57196511	Human	1	name
14698137	CV625870	single nucleotide variant	NM_016277.5(RAB23):c.416T>C (p.Leu139Pro)	RAB23-related Carpenter syndrome [RCV000790522]	uncertain significance	6	57194835	57194835	Human	2	name , trait
28867872	CV896700	single nucleotide variant	NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)	Carpenter syndrome [RCV002559548]\|RAB23-related Carpenter syndrome [RCV001162141]\|RAB23-related disorder [RCV003413965]	uncertain significance	6	57190505	57190505	Human	2	name , trait , alternate_id
28867873	CV896701	single nucleotide variant	NM_016277.5(RAB23):c.664C>G (p.Gln222Glu)	RAB23-related Carpenter syndrome [RCV001162142]	uncertain significance	6	57190511	57190511	Human	2	name , trait
28871893	CV896702	single nucleotide variant	NM_016277.5(RAB23):c.389G>C (p.Cys130Ser)	RAB23-related Carpenter syndrome [RCV001164155]	uncertain significance	6	57196459	57196459	Human	2	name , trait
405164355	CV2989926	deletion	NM_016277.5(RAB23):c.430_431del (p.Lys144fs)	Carpenter syndrome [RCV003757564]	pathogenic	6	57194820	57194821	Human	1	name
405239870	CV3166041	microsatellite	NM_016277.5(RAB23):c.313_316del (p.Glu105fs)	Carpenter syndrome [RCV003867053]	pathogenic	6	57196532	57196535	Human		name
597700755	CV3722483	microsatellite	NM_016277.5(RAB23):c.315_316del (p.Lys106fs)	RAB23-related Carpenter syndrome [RCV005033449]	likely pathogenic	6	57196532	57196533	Human		name , trait
598176453	CV4008131	microsatellite	NM_016277.5(RAB23):c.664_667del (p.Gln222fs)	RAB23-related Carpenter syndrome [RCV005393647]	uncertain significance	6	57190508	57190511	Human		name , trait
408372137	CV3508523	indel	NM_016277.5(RAB23):c.17_18delinsAT (p.Met6Asn)	RAB23-related disorder [RCV004742744]	uncertain significance	6	57210363	57210364	Human		name , trait , alternate_id
405163466	CV2969601	indel	NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA	Carpenter syndrome [RCV003757484]	likely pathogenic	6	57207041	57207695	Human		name
151772502	CV1416981	indel	NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG	Carpenter syndrome [RCV001971319]	likely pathogenic	6	57196273	57196490	Human		name
156072175	CV2028947	deletion	NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)	Carpenter syndrome [RCV002760353]	uncertain significance	6	57196526	57196531	Human	1	name

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