Ccdc22 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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182 records found for search term Ccdc22

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
10050438	CV191924	single nucleotide variant	NM_014008.5(CCDC22):c.*7G>A	not provided [RCV000175202]	uncertain significance	X	49250268	49250268	Human		name
10050439	CV191925	single nucleotide variant	NM_014008.5(CCDC22):c.*10G>A	not provided [RCV000175203]	uncertain significance	X	49250271	49250271	Human		name
405270740	CV3219727	single nucleotide variant	NM_014008.5(CCDC22):c.51-9C>T	CCDC22-related disorder [RCV003971476]	likely benign	X	49237077	49237077	Human		name , trait , alternate_id
10403476	CV209079	single nucleotide variant	NM_014008.5(CCDC22):c.536-7C>T	Ritscher-Schinzel syndrome 2 [RCV002500587]\|not provided [RCV000886379]\|not specified [RCV000192619]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	49243277	49243277	Human	1	name
12847444	CV378409	single nucleotide variant	NM_014008.5(CCDC22):c.910-5C>T	not specified [RCV000443486]	likely benign	X	49247491	49247491	Human		name
597935600	CV3863756	single nucleotide variant	NM_014008.5(CCDC22):c.361+2T>C	not provided [RCV005207569]	uncertain significance	X	49242150	49242150	Human		name
38596685	CV964068	single nucleotide variant	NM_014008.5(CCDC22):c.909+8C>T	Intellectual disability [RCV001252186]	likely benign	X	49246933	49246933	Human	2	name
8642462	CV101445	single nucleotide variant	NM_014008.5(CCDC22):c.1213-9C>T	not provided [RCV000081578]	uncertain significance	X	49248398	49248398	Human		name
151349446	CV1325379	single nucleotide variant	NM_014008.5(CCDC22):c.1212+4G>T	CCDC22-related disorder [RCV003948739]\|Ritscher-Schinzel syndrome 2 [RCV001814664]	likely benign\|uncertain significance	X	49248314	49248314	Human	1	name , trait , alternate_id
401926996	CV2828920	single nucleotide variant	NM_014008.5(CCDC22):c.1635+3G>A	not provided [RCV003438301]	likely benign	X	49249265	49249265	Human		name
596945877	CV3548005	duplication	NM_014008.5(CCDC22):c.1432-7dup	not provided [RCV004809336]	likely benign	X	49248809	49248810	Human		name
38597900	CV964706	single nucleotide variant	NM_014008.5(CCDC22):c.1636-6G>C	Ritscher-Schinzel syndrome 2 [RCV001253249]	uncertain significance	X	49249503	49249503	Human	1	name
11641265	CV269157	single nucleotide variant	NM_014008.5(CCDC22):c.1540-18T>C	Ritscher-Schinzel syndrome 2 [RCV001554713]\|not provided [RCV004713476]\|not specified [RCV000353781]	benign	X	49249149	49249149	Human	1	name
401907242	CV2795839	single nucleotide variant	NM_014008.5(CCDC22):c.909+122G>A	Ritscher-Schinzel syndrome 2 [RCV003397186]	uncertain significance	X	49247047	49247047	Human	1	name
8642465	CV101448	single nucleotide variant	NM_014008.5(CCDC22):c.747= (p.Gln249=)	Ritscher-Schinzel syndrome 2 [RCV001554712]\|not provided [RCV004713251]\|not specified [RCV000081581]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	49246763	49246763	Human	1	name
151353714	CV1327266	single nucleotide variant	NM_014008.5(CCDC22):c.81C>T (p.Arg27=)	not specified [RCV001817210]	likely benign	X	49237116	49237116	Human		name
152033250	CV1519458	single nucleotide variant	NM_014008.5(CCDC22):c.2T>C (p.Met1Thr)	CCDC22-related disorder [RCV003968693]\|Ritscher-Schinzel syndrome 2 [RCV002086751]	uncertain significance	X	49235638	49235638	Human	1	name , trait , alternate_id
15196700	CV758545	single nucleotide variant	NM_014008.5(CCDC22):c.93T>G (p.Thr31=)	not provided [RCV000911770]	likely benign	X	49237128	49237128	Human		name
401926990	CV2828915	single nucleotide variant	NM_014008.5(CCDC22):c.124C>T (p.Leu42=)	not provided [RCV003438296]	likely benign	X	49237159	49237159	Human		name
15112667	CV758546	single nucleotide variant	NM_014008.5(CCDC22):c.240T>C (p.Tyr80=)	not provided [RCV000916954]	likely benign	X	49242027	49242027	Human		name
10448651	CV214760	single nucleotide variant	NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)	Ritscher-Schinzel syndrome 1 [RCV001028073]\|Ritscher-Schinzel syndrome 2 [RCV000202354]	pathogenic\|not provided	X	49235685	49235685	Human	2	name
243062309	CV2404704	single nucleotide variant	NM_014008.5(CCDC22):c.49A>C (p.Thr17Pro)	Ritscher-Schinzel syndrome 2 [RCV003140265]	uncertain significance	X	49235685	49235685	Human		name
405269270	CV3187271	single nucleotide variant	NM_014008.5(CCDC22):c.873C>T (p.Ser291=)	not provided [RCV003887355]	likely benign	X	49246889	49246889	Human		name
408393381	CV3525505	single nucleotide variant	NM_014008.5(CCDC22):c.53C>A (p.Ala18Glu)	not provided [RCV004771391]	uncertain significance	X	49237088	49237088	Human		name
597794819	CV3644358	single nucleotide variant	NM_014008.5(CCDC22):c.82G>A (p.Ala28Thr)	not specified [RCV004903457]	uncertain significance	X	49237117	49237117	Human		name
13706467	CV537570	single nucleotide variant	NM_014008.5(CCDC22):c.615G>A (p.Ser205=)	not provided [RCV000659161]	likely benign	X	49243363	49243363	Human		name
15163704	CV706260	single nucleotide variant	NM_014008.5(CCDC22):c.747A>G (p.Gln249=)	not provided [RCV000948153]	benign	X	49246763	49246763	Human		name
15148410	CV743378	single nucleotide variant	NM_014008.5(CCDC22):c.399A>G (p.Gln133=)	not provided [RCV000900712]	likely benign	X	49242923	49242923	Human		name
15145676	CV743379	single nucleotide variant	NM_014008.5(CCDC22):c.420G>A (p.Leu140=)	not provided [RCV000900199]	likely benign	X	49242944	49242944	Human		name
15172609	CV743380	single nucleotide variant	NM_014008.5(CCDC22):c.474G>A (p.Ser158=)	not provided [RCV000905701]	benign	X	49243123	49243123	Human		name
15185312	CV743381	single nucleotide variant	NM_014008.5(CCDC22):c.573A>C (p.Pro191=)	not provided [RCV000908492]	likely benign	X	49243321	49243321	Human		name
15107042	CV786858	single nucleotide variant	NM_014008.5(CCDC22):c.828G>A (p.Leu276=)	not provided [RCV000976744]	likely benign	X	49246844	49246844	Human		name
126733411	CV1001274	single nucleotide variant	NM_014008.5(CCDC22):c.134T>A (p.Ile45Asn)	not provided [RCV001311074]	uncertain significance	X	49237169	49237169	Human		name
126728890	CV1019003	single nucleotide variant	NM_014008.5(CCDC22):c.110C>T (p.Ala37Val)	Ritscher-Schinzel syndrome 2 [RCV001332993]	uncertain significance	X	49237145	49237145	Human	1	name
150337529	CV1166466	single nucleotide variant	NM_014008.5(CCDC22):c.1113C>T (p.His371=)	not provided [RCV001532682]	likely benign	X	49248211	49248211	Human		name
8657510	CV134074	single nucleotide variant	NM_014008.5(CCDC22):c.161G>C (p.Ser54Thr)	not provided [RCV000116597]	uncertain significance	X	49237196	49237196	Human		name
155800327	CV1862894	single nucleotide variant	NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr)	Ritscher-Schinzel syndrome 2 [RCV002472302]\|not provided [RCV003883830]\|not specified [RCV004067598]	likely benign\|uncertain significance	X	49237177	49237177	Human	1	name
10404606	CV209082	single nucleotide variant	NM_014008.5(CCDC22):c.1590G>A (p.Gly530=)	not specified [RCV000194201]	uncertain significance	X	49249217	49249217	Human		name
156135513	CV2245599	single nucleotide variant	NM_014008.5(CCDC22):c.157C>T (p.Leu53Phe)	not specified [RCV004111496]	uncertain significance	X	49237192	49237192	Human		name
243050820	CV2415592	single nucleotide variant	NM_014008.5(CCDC22):c.190C>G (p.Arg64Gly)	Ritscher-Schinzel syndrome 2 [RCV003148192]	uncertain significance	X	49237225	49237225	Human	1	name
401926994	CV2828918	single nucleotide variant	NM_014008.5(CCDC22):c.1167G>A (p.Ala389=)	not provided [RCV003438299]	likely benign	X	49248265	49248265	Human		name
401926995	CV2828919	single nucleotide variant	NM_014008.5(CCDC22):c.1233C>T (p.Ala411=)	not provided [RCV003438300]	likely benign	X	49248427	49248427	Human		name
401940434	CV2839275	single nucleotide variant	NM_014008.5(CCDC22):c.284C>T (p.Pro95Leu)	Ritscher-Schinzel syndrome 2 [RCV003448833]	uncertain significance	X	49242071	49242071	Human	1	name
404991337	CV2852616	single nucleotide variant	NM_014008.5(CCDC22):c.127C>T (p.Arg43Cys)	not specified [RCV003490800]	uncertain significance	X	49237162	49237162	Human		name
405276108	CV3199600	single nucleotide variant	NM_014008.5(CCDC22):c.1287C>T (p.Leu429=)	CCDC22-related disorder [RCV003916992]	likely benign	X	49248481	49248481	Human		name , trait , alternate_id
407429354	CV3413741	single nucleotide variant	NM_014008.5(CCDC22):c.128G>C (p.Arg43Pro)	Ritscher-Schinzel syndrome 2 [RCV004595150]	uncertain significance	X	49237163	49237163	Human	1	name
596938826	CV3549844	single nucleotide variant	NM_014008.5(CCDC22):c.1212G>A (p.Gln404=)	not provided [RCV004812885]	uncertain significance	X	49248310	49248310	Human		name
597794805	CV3644353	single nucleotide variant	NM_014008.5(CCDC22):c.148G>A (p.Gly50Ser)	not specified [RCV004903453]	uncertain significance	X	49237183	49237183	Human		name
597794827	CV3644361	single nucleotide variant	NM_014008.5(CCDC22):c.134T>C (p.Ile45Thr)	not specified [RCV004903460]	uncertain significance	X	49237169	49237169	Human		name
12837761	CV380074	single nucleotide variant	NM_014008.5(CCDC22):c.242C>T (p.Pro81Leu)	CCDC22-related disorder [RCV003401438]\|not provided [RCV000425724]	uncertain significance	X	49242029	49242029	Human	1	name , trait , alternate_id
598190660	CV3943196	single nucleotide variant	NM_014008.5(CCDC22):c.278G>A (p.Ser93Asn)	not specified [RCV005312508]	uncertain significance	X	49242065	49242065	Human		name
616939655	CV4014152	single nucleotide variant	NM_014008.5(CCDC22):c.1386G>A (p.Ala462=)	not provided [RCV005413644]	likely benign	X	49248689	49248689	Human		name
12899746	CV411400	single nucleotide variant	NM_014008.5(CCDC22):c.297C>G (p.Asp99Glu)	not provided [RCV000480871]\|not specified [RCV004023128]	uncertain significance	X	49242084	49242084	Human		name
13213481	CV430817	single nucleotide variant	NM_014008.5(CCDC22):c.1164C>T (p.Arg388=)	not specified [RCV000500064]	likely benign	X	49248262	49248262	Human		name
13216839	CV430818	single nucleotide variant	NM_014008.5(CCDC22):c.1207C>T (p.Leu403=)	not specified [RCV000504261]	likely benign	X	49248305	49248305	Human		name
14702573	CV626298	single nucleotide variant	NM_014008.5(CCDC22):c.197G>A (p.Arg66His)	Ritscher-Schinzel syndrome 2 [RCV000791030]\|not provided [RCV003457796]	uncertain significance	X	49237232	49237232	Human	1	name
15163360	CV729634	single nucleotide variant	NM_014008.5(CCDC22):c.1350G>A (p.Leu450=)	not provided [RCV000881953]	likely benign	X	49248653	49248653	Human		name
15192673	CV743382	single nucleotide variant	NM_014008.5(CCDC22):c.1038C>T (p.Arg346=)	not provided [RCV000910612]	likely benign	X	49247714	49247714	Human		name
15160449	CV758548	single nucleotide variant	NM_014008.5(CCDC22):c.1044T>C (p.Ile348=)	not provided [RCV000925486]	likely benign	X	49247720	49247720	Human		name
15156653	CV758549	single nucleotide variant	NM_014008.5(CCDC22):c.1380C>T (p.Val460=)	not provided [RCV000924711]	likely benign	X	49248683	49248683	Human		name
15102162	CV774099	single nucleotide variant	NM_014008.5(CCDC22):c.1761C>T (p.Leu587=)	not provided [RCV000936938]	likely benign	X	49249716	49249716	Human		name
126734883	CV1022174	single nucleotide variant	NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln)	Ritscher-Schinzel syndrome 2 [RCV001334725]\|not provided [RCV005243513]	uncertain significance	X	49242907	49242907	Human	1	name
150424952	CV1185820	single nucleotide variant	NM_014008.5(CCDC22):c.586G>A (p.Val196Met)	not provided [RCV001557349]\|not specified [RCV004039315]	likely benign\|uncertain significance	X	49243334	49243334	Human		name
150412082	CV1196375	single nucleotide variant	NM_014008.5(CCDC22):c.553G>A (p.Ala185Thr)	not provided [RCV001573956]	likely benign	X	49243301	49243301	Human		name
150546002	CV1297092	single nucleotide variant	NM_014008.5(CCDC22):c.761A>C (p.Glu254Ala)	not provided [RCV001763383]	uncertain significance	X	49246777	49246777	Human		name
150555501	CV1297980	single nucleotide variant	NM_014008.5(CCDC22):c.797C>A (p.Pro266His)	not provided [RCV001772888]	uncertain significance	X	49246813	49246813	Human		name
150540819	CV1298542	single nucleotide variant	NM_014008.5(CCDC22):c.757A>G (p.Thr253Ala)	not provided [RCV001760690]	uncertain significance	X	49246773	49246773	Human		name
151355111	CV1328178	single nucleotide variant	NM_014008.5(CCDC22):c.681C>G (p.Asp227Glu)	not specified [RCV001819654]	uncertain significance	X	49243429	49243429	Human		name
151727127	CV1334485	single nucleotide variant	NM_014008.5(CCDC22):c.427G>A (p.Val143Ile)	not provided [RCV002051956]	likely benign\|uncertain significance	X	49242951	49242951	Human		name
8659182	CV134076	single nucleotide variant	NM_014008.5(CCDC22):c.659G>A (p.Arg220Gln)	not provided [RCV000116599]\|not specified [RCV002464112]	likely benign\|uncertain significance	X	49243407	49243407	Human		name
8657511	CV134077	single nucleotide variant	NM_014008.5(CCDC22):c.972G>C (p.Gln324His)	not specified [RCV000116600]	likely benign\|uncertain significance	X	49247558	49247558	Human		name
151877466	CV1342230	single nucleotide variant	NM_014008.5(CCDC22):c.488C>T (p.Pro163Leu)	not provided [RCV001961222]	uncertain significance	X	49243137	49243137	Human		name
153346520	CV1691800	single nucleotide variant	NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	Ritscher-Schinzel syndrome 2 [RCV002273283]	conflicting interpretations of pathogenicity\|uncertain significance	X	49243370	49243370	Human	1	name
155798849	CV1862194	single nucleotide variant	NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)	Ritscher-Schinzel syndrome 2 [RCV002471598]\|not specified [RCV004067592]	uncertain significance	X	49242106	49242106	Human	1	name
10053056	CV195717	single nucleotide variant	NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys)	not provided [RCV000886329]\|not specified [RCV000179938]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	49246731	49246731	Human		name
10053255	CV196013	single nucleotide variant	NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln)	not specified [RCV000180311]	likely benign\|conflicting interpretations of pathogenicity	X	49247548	49247548	Human		name
156237199	CV2193543	single nucleotide variant	NM_014008.5(CCDC22):c.973G>T (p.Val325Phe)	Ritscher-Schinzel syndrome 2 [RCV003143531]\|not specified [RCV004073020]	uncertain significance	X	49247649	49247649	Human	1	name
156243862	CV2231550	single nucleotide variant	NM_014008.5(CCDC22):c.977C>T (p.Thr326Met)	not specified [RCV004096608]	uncertain significance	X	49247653	49247653	Human		name
156206782	CV2360348	single nucleotide variant	NM_014008.5(CCDC22):c.653C>T (p.Thr218Met)	not specified [RCV004208683]	uncertain significance	X	49243401	49243401	Human		name
243054811	CV2409767	single nucleotide variant	NM_014008.5(CCDC22):c.552G>C (p.Gln184His)	Ritscher-Schinzel syndrome 2 [RCV003144688]	uncertain significance	X	49243300	49243300	Human	1	name
243054813	CV2409768	single nucleotide variant	NM_014008.5(CCDC22):c.382C>T (p.Arg128Trp)	Ritscher-Schinzel syndrome 2 [RCV003144689]	uncertain significance	X	49242906	49242906	Human	1	name
243054964	CV2409769	single nucleotide variant	NM_014008.5(CCDC22):c.559C>T (p.Pro187Ser)	Ritscher-Schinzel syndrome 2 [RCV003144690]	uncertain significance	X	49243307	49243307	Human	1	name
243054821	CV2409774	single nucleotide variant	NM_014008.5(CCDC22):c.542G>A (p.Arg181Gln)	Ritscher-Schinzel syndrome 2 [RCV003144695]	uncertain significance	X	49243290	49243290	Human	1	name
401920874	CV2802025	single nucleotide variant	NM_014008.5(CCDC22):c.421C>A (p.Pro141Thr)	CCDC22-related disorder [RCV003402768]	uncertain significance	X	49242945	49242945	Human		name , trait , alternate_id
401926991	CV2828916	single nucleotide variant	NM_014008.5(CCDC22):c.320G>A (p.Arg107His)	not provided [RCV003438297]	uncertain significance	X	49242107	49242107	Human		name
401926992	CV2828917	single nucleotide variant	NM_014008.5(CCDC22):c.473C>T (p.Ser158Leu)	not provided [RCV003438298]	likely benign	X	49243122	49243122	Human		name
405259396	CV3186250	single nucleotide variant	NM_014008.5(CCDC22):c.803A>G (p.Gln268Arg)	not provided [RCV003884009]\|not specified [RCV004369701]	likely benign\|uncertain significance	X	49246819	49246819	Human		name
405278170	CV3221789	single nucleotide variant	NM_014008.5(CCDC22):c.956C>A (p.Ser319Tyr)	CCDC22-related disorder [RCV003976363]	uncertain significance	X	49247542	49247542	Human		name , trait , alternate_id
405715112	CV3299572	single nucleotide variant	NM_014008.5(CCDC22):c.720C>G (p.Asp240Glu)	not specified [RCV004427398]	uncertain significance	X	49246736	49246736	Human		name
405715120	CV3299573	single nucleotide variant	NM_014008.5(CCDC22):c.724C>T (p.Arg242Trp)	not specified [RCV004427399]	uncertain significance	X	49246740	49246740	Human		name
405715132	CV3299574	single nucleotide variant	NM_014008.5(CCDC22):c.809G>A (p.Arg270Gln)	not specified [RCV004427400]	uncertain significance	X	49246825	49246825	Human		name
407490575	CV3418566	single nucleotide variant	NM_014008.5(CCDC22):c.799A>G (p.Ile267Val)	not specified [RCV004604494]	uncertain significance	X	49246815	49246815	Human		name
407490578	CV3418567	single nucleotide variant	NM_014008.5(CCDC22):c.442C>T (p.Arg148Cys)	not specified [RCV004604495]	uncertain significance	X	49242966	49242966	Human		name
407475458	CV3494692	single nucleotide variant	NM_014008.5(CCDC22):c.701G>A (p.Arg234His)	not specified [RCV004690591]	uncertain significance	X	49243449	49243449	Human		name
408388290	CV3520719	single nucleotide variant	NM_014008.5(CCDC22):c.837G>C (p.Trp279Cys)	not provided [RCV004761552]	uncertain significance	X	49246853	49246853	Human		name
408392512	CV3525266	single nucleotide variant	NM_014008.5(CCDC22):c.880A>G (p.Thr294Ala)	not provided [RCV004771152]	uncertain significance	X	49246896	49246896	Human		name
597761421	CV3644351	single nucleotide variant	NM_014008.5(CCDC22):c.606G>T (p.Arg202Ser)	not specified [RCV004894954]	uncertain significance	X	49243354	49243354	Human		name
597794804	CV3644352	single nucleotide variant	NM_014008.5(CCDC22):c.734G>A (p.Arg245Gln)	Ritscher-Schinzel syndrome 2 [RCV005365358]\|not specified [RCV004903452]	uncertain significance	X	49246750	49246750	Human	1	name
597794810	CV3644354	single nucleotide variant	NM_014008.5(CCDC22):c.694A>C (p.Thr232Pro)	not specified [RCV004903454]	uncertain significance	X	49243442	49243442	Human		name
597794822	CV3644359	single nucleotide variant	NM_014008.5(CCDC22):c.541C>T (p.Arg181Trp)	not specified [RCV004903458]	uncertain significance	X	49243289	49243289	Human		name
598190655	CV3943195	single nucleotide variant	NM_014008.5(CCDC22):c.740G>A (p.Arg247Gln)	not specified [RCV005312507]	uncertain significance	X	49246756	49246756	Human		name
616935011	CV4009237	single nucleotide variant	NM_014008.5(CCDC22):c.866A>G (p.Lys289Arg)	not provided [RCV005402409]	uncertain significance	X	49246882	49246882	Human		name
12901080	CV411401	single nucleotide variant	NM_014008.5(CCDC22):c.770G>A (p.Arg257His)	not provided [RCV000483859]	uncertain significance	X	49246786	49246786	Human		name
12907221	CV415796	single nucleotide variant	NM_014008.5(CCDC22):c.404G>A (p.Arg135Gln)	not provided [RCV000490182]\|not specified [RCV004023245]	uncertain significance	X	49242928	49242928	Human		name
13215134	CV430813	single nucleotide variant	NM_014008.5(CCDC22):c.901T>C (p.Phe301Leu)	not provided [RCV000927975]\|not specified [RCV000502049]	benign\|uncertain significance	X	49246917	49246917	Human		name
13215578	CV430814	single nucleotide variant	NM_014008.5(CCDC22):c.926C>A (p.Ala309Asp)	not specified [RCV000502625]	likely benign	X	49247512	49247512	Human		name
13482263	CV446687	single nucleotide variant	NM_014008.5(CCDC22):c.614C>T (p.Ser205Leu)	not provided [RCV000521735]	uncertain significance	X	49243362	49243362	Human		name
15180638	CV729633	single nucleotide variant	NM_014008.5(CCDC22):c.389T>C (p.Ile130Thr)	not provided [RCV000885575]	benign	X	49242913	49242913	Human		name
15200759	CV758547	single nucleotide variant	NM_014008.5(CCDC22):c.511G>A (p.Val171Met)	CCDC22-related disorder [RCV003970381]\|not provided [RCV000912937]\|not specified [RCV004029356]	likely benign	X	49243160	49243160	Human	1	name , trait , alternate_id
38596686	CV963984	single nucleotide variant	NM_014008.5(CCDC22):c.403C>T (p.Arg135Trp)	Intellectual disability [RCV001252187]\|not specified [RCV004035317]	likely benign\|uncertain significance	X	49242927	49242927	Human	2	name
8642463	CV101446	single nucleotide variant	NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)	Ritscher-Schinzel syndrome 2 [RCV001420683]\|not provided [RCV000955999]\|not specified [RCV000081579]	benign	X	49248482	49248482	Human	1	name
8642464	CV101447	single nucleotide variant	NM_014008.5(CCDC22):c.1774G>A (p.Glu592Lys)	not provided [RCV000081580]\|not specified [RCV004019569]	uncertain significance	X	49250151	49250151	Human		name
126728893	CV1019004	single nucleotide variant	NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val)	Ritscher-Schinzel syndrome 2 [RCV001332994]	uncertain significance	X	49249237	49249237	Human	1	name
126734880	CV1022175	single nucleotide variant	NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu)	Ritscher-Schinzel syndrome 2 [RCV001334724]	uncertain significance	X	49248646	49248646	Human	1	name
150424179	CV1185821	single nucleotide variant	NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile)	Ritscher-Schinzel syndrome 2 [RCV001843592]\|not provided [RCV001556323]	uncertain significance	X	49249685	49249685	Human	1	name
150427461	CV1189122	single nucleotide variant	NM_014008.5(CCDC22):c.1064T>C (p.Met355Thr)	not provided [RCV001560951]	likely benign	X	49247740	49247740	Human		name
150549033	CV1294916	single nucleotide variant	NM_014008.5(CCDC22):c.1270C>T (p.His424Tyr)	not provided [RCV001764877]	uncertain significance	X	49248464	49248464	Human		name
150556078	CV1295460	single nucleotide variant	NM_014008.5(CCDC22):c.1331T>C (p.Leu444Pro)	not provided [RCV001773895]	uncertain significance	X	49248634	49248634	Human		name
150541108	CV1296295	single nucleotide variant	NM_014008.5(CCDC22):c.1873C>T (p.Arg625Trp)	Ritscher-Schinzel syndrome 2 [RCV002503205]\|not provided [RCV001767305]	uncertain significance	X	49250250	49250250	Human	1	name
8659181	CV134075	single nucleotide variant	NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn)	not provided [RCV000116598]\|not specified [RCV000203092]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	49249509	49249509	Human		name
152977801	CV1671158	single nucleotide variant	NM_014008.5(CCDC22):c.1882T>C (p.Ter628Arg)	Ritscher-Schinzel syndrome 2 [RCV002226832]	uncertain significance	X	49250259	49250259	Human	1	name
152980329	CV1678549	single nucleotide variant	NM_014008.5(CCDC22):c.1490T>G (p.Ile497Ser)	not specified [RCV002247056]	uncertain significance	X	49248875	49248875	Human		name
153304298	CV1690690	single nucleotide variant	NM_014008.5(CCDC22):c.1513C>G (p.Arg505Gly)	not provided [RCV002269734]	uncertain significance	X	49248898	49248898	Human		name
155265660	CV1695806	single nucleotide variant	NM_014008.5(CCDC22):c.1852G>A (p.Ala618Thr)	not provided [RCV002280538]	uncertain significance	X	49250229	49250229	Human		name
10049731	CV190864	single nucleotide variant	NM_014008.5(CCDC22):c.1163G>A (p.Arg388His)	not provided [RCV000955998]\|not specified [RCV000173852]	benign	X	49248261	49248261	Human		name
10404463	CV209080	single nucleotide variant	NM_014008.5(CCDC22):c.1070C>G (p.Thr357Ser)	not provided [RCV000918228]\|not specified [RCV000195134]	benign\|likely benign	X	49247746	49247746	Human		name
10403702	CV209081	single nucleotide variant	NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)	CCDC22-related disorder [RCV003917739]\|not provided [RCV000445174]\|not specified [RCV000193188]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	49248248	49248248	Human	1	name , trait , alternate_id
10448650	CV214761	single nucleotide variant	NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)	Ritscher-Schinzel syndrome 1 [RCV001028072]\|Ritscher-Schinzel syndrome 2 [RCV000202351]	pathogenic\|not provided	X	49249543	49249543	Human	2	name
156031217	CV2202631	single nucleotide variant	NM_014008.5(CCDC22):c.1108C>T (p.Arg370Trp)	not specified [RCV004082887]	uncertain significance	X	49248206	49248206	Human		name
156067301	CV2221792	single nucleotide variant	NM_014008.5(CCDC22):c.1385C>T (p.Ala462Val)	not specified [RCV004102825]	uncertain significance	X	49248688	49248688	Human		name
156238034	CV2224255	single nucleotide variant	NM_014008.5(CCDC22):c.1333G>C (p.Glu445Gln)	not specified [RCV004096081]	uncertain significance	X	49248636	49248636	Human		name
156300158	CV2326258	single nucleotide variant	NM_014008.5(CCDC22):c.1134G>C (p.Glu378Asp)	not provided [RCV003456557]\|not specified [RCV004180513]	likely benign\|uncertain significance	X	49248232	49248232	Human		name
156049555	CV2336527	single nucleotide variant	NM_014008.5(CCDC22):c.1162C>T (p.Arg388Cys)	not specified [RCV004194735]	uncertain significance	X	49248260	49248260	Human		name
243051969	CV2405274	single nucleotide variant	NM_014008.5(CCDC22):c.1852G>C (p.Ala618Pro)	Ritscher-Schinzel syndrome 2 [RCV003130911]	uncertain significance	X	49250229	49250229	Human	1	name
243054810	CV2409766	single nucleotide variant	NM_014008.5(CCDC22):c.1222G>A (p.Glu408Lys)	Ritscher-Schinzel syndrome 2 [RCV003144687]	uncertain significance	X	49248416	49248416	Human	1	name
243054815	CV2409770	single nucleotide variant	NM_014008.5(CCDC22):c.1610C>G (p.Ala537Gly)	Ritscher-Schinzel syndrome 2 [RCV003144691]	uncertain significance	X	49249237	49249237	Human	1	name
243054816	CV2409771	single nucleotide variant	NM_014008.5(CCDC22):c.1501G>A (p.Val501Met)	Ritscher-Schinzel syndrome 2 [RCV003144692]	uncertain significance	X	49248886	49248886	Human	1	name
243054818	CV2409772	single nucleotide variant	NM_014008.5(CCDC22):c.1000C>G (p.Leu334Val)	Ritscher-Schinzel syndrome 2 [RCV003144693]	uncertain significance	X	49247676	49247676	Human	1	name
243054820	CV2409773	single nucleotide variant	NM_014008.5(CCDC22):c.1862T>G (p.Leu621Arg)	Ritscher-Schinzel syndrome 2 [RCV003144694]	uncertain significance	X	49250239	49250239	Human	1	name
329953540	CV2668475	single nucleotide variant	NM_014008.5(CCDC22):c.1822G>A (p.Glu608Lys)	not provided [RCV003230128]	uncertain significance	X	49250199	49250199	Human		name
401760384	CV2695025	single nucleotide variant	NM_014008.5(CCDC22):c.1693G>A (p.Glu565Lys)	not specified [RCV004301398]	uncertain significance	X	49249566	49249566	Human		name
401762962	CV2720144	single nucleotide variant	NM_014008.5(CCDC22):c.1486C>T (p.Arg496Cys)	not specified [RCV004323703]	uncertain significance	X	49248871	49248871	Human		name
401885277	CV2768042	single nucleotide variant	NM_014008.5(CCDC22):c.1585T>C (p.Ser529Pro)	not specified [RCV004348283]	uncertain significance	X	49249212	49249212	Human		name
401885280	CV2768043	single nucleotide variant	NM_014008.5(CCDC22):c.1586C>A (p.Ser529Tyr)	not specified [RCV004348284]	uncertain significance	X	49249213	49249213	Human		name
401921237	CV2797955	single nucleotide variant	NM_014008.5(CCDC22):c.1705C>G (p.Gln569Glu)	CCDC22-related disorder [RCV003402864]\|not provided [RCV004801345]\|not specified [RCV004897804]	uncertain significance	X	49249660	49249660	Human	1	name , trait , alternate_id
401926998	CV2828921	single nucleotide variant	NM_014008.5(CCDC22):c.1874G>A (p.Arg625Gln)	not provided [RCV003438302]	uncertain significance	X	49250251	49250251	Human		name
405260466	CV3185767	single nucleotide variant	NM_014008.5(CCDC22):c.1036C>G (p.Arg346Gly)	not provided [RCV003884843]	likely benign	X	49247712	49247712	Human		name
405265689	CV3215600	single nucleotide variant	NM_014008.5(CCDC22):c.1819C>T (p.Arg607Trp)	CCDC22-related disorder [RCV003946786]	likely benign	X	49250196	49250196	Human		name , trait , alternate_id
405715094	CV3299569	single nucleotide variant	NM_014008.5(CCDC22):c.1171G>A (p.Glu391Lys)	not provided [RCV004573461]\|not specified [RCV004427395]	likely benign\|uncertain significance	X	49248269	49248269	Human		name
405715099	CV3299570	single nucleotide variant	NM_014008.5(CCDC22):c.1726G>A (p.Asp576Asn)	not specified [RCV004427396]	uncertain significance	X	49249681	49249681	Human		name
405715104	CV3299571	single nucleotide variant	NM_014008.5(CCDC22):c.1810G>A (p.Glu604Lys)	not specified [RCV004427397]	uncertain significance	X	49250187	49250187	Human		name
407490571	CV3418565	single nucleotide variant	NM_014008.5(CCDC22):c.1553C>T (p.Thr518Met)	not specified [RCV004604493]	uncertain significance	X	49249180	49249180	Human		name
407490581	CV3418568	single nucleotide variant	NM_014008.5(CCDC22):c.1253C>T (p.Ala418Val)	not specified [RCV004604496]	uncertain significance	X	49248447	49248447	Human		name
408381635	CV3501981	single nucleotide variant	NM_014008.5(CCDC22):c.1273C>T (p.Arg425Trp)	not provided [RCV004729509]	likely pathogenic	X	49248467	49248467	Human		name
408383752	CV3507087	single nucleotide variant	NM_014008.5(CCDC22):c.1091A>C (p.Gln364Pro)	CCDC22-related disorder [RCV004730807]	uncertain significance	X	49247767	49247767	Human		name , trait , alternate_id
408365919	CV3512454	single nucleotide variant	NM_014008.5(CCDC22):c.1820G>A (p.Arg607Gln)	CCDC22-related disorder [RCV004755421]	uncertain significance	X	49250197	49250197	Human		name , trait , alternate_id
408386820	CV3518559	single nucleotide variant	NM_014008.5(CCDC22):c.1720A>G (p.Ile574Val)	not provided [RCV004760877]	uncertain significance	X	49249675	49249675	Human		name
408390715	CV3520979	single nucleotide variant	NM_014008.5(CCDC22):c.1058C>T (p.Ala353Val)	not provided [RCV004762801]	uncertain significance	X	49247734	49247734	Human		name
408391457	CV3521257	single nucleotide variant	NM_014008.5(CCDC22):c.1019A>G (p.Gln340Arg)	not provided [RCV004763079]	uncertain significance	X	49247695	49247695	Human		name
408388256	CV3522603	single nucleotide variant	NM_014008.5(CCDC22):c.1220T>C (p.Val407Ala)	not provided [RCV004768984]	uncertain significance	X	49248414	49248414	Human		name
596921092	CV3534709	single nucleotide variant	NM_014008.5(CCDC22):c.1121T>C (p.Leu374Pro)	not provided [RCV004784266]	uncertain significance	X	49248219	49248219	Human		name
597794800	CV3644350	single nucleotide variant	NM_014008.5(CCDC22):c.1832G>A (p.Arg611Gln)	not specified [RCV004903451]	uncertain significance	X	49250209	49250209	Human		name
597761426	CV3644355	single nucleotide variant	NM_014008.5(CCDC22):c.1183G>A (p.Asp395Asn)	not specified [RCV004894955]	uncertain significance	X	49248281	49248281	Human		name
597794812	CV3644356	single nucleotide variant	NM_014008.5(CCDC22):c.1489A>G (p.Ile497Val)	not specified [RCV004903455]	uncertain significance	X	49248874	49248874	Human		name
597794824	CV3644360	single nucleotide variant	NM_014008.5(CCDC22):c.1085T>C (p.Phe362Ser)	not specified [RCV004903459]	uncertain significance	X	49247761	49247761	Human		name
597833665	CV3735663	single nucleotide variant	NM_014008.5(CCDC22):c.1306C>G (p.Arg436Gly)	not provided [RCV005063525]	uncertain significance	X	49248500	49248500	Human		name
598190642	CV3943193	single nucleotide variant	NM_014008.5(CCDC22):c.1109G>A (p.Arg370Gln)	not specified [RCV005312505]	uncertain significance	X	49248207	49248207	Human		name
598190649	CV3943194	single nucleotide variant	NM_014008.5(CCDC22):c.1136G>A (p.Arg379His)	not specified [RCV005312506]	uncertain significance	X	49248234	49248234	Human		name
616933981	CV4011956	single nucleotide variant	NM_014008.5(CCDC22):c.1091A>G (p.Gln364Arg)	not specified [RCV005408505]	uncertain significance	X	49247767	49247767	Human		name
12901207	CV411402	single nucleotide variant	NM_014008.5(CCDC22):c.1676A>G (p.Tyr559Cys)	not provided [RCV000484150]	uncertain significance	X	49249549	49249549	Human		name
13216978	CV430815	single nucleotide variant	NM_014008.5(CCDC22):c.1078G>A (p.Val360Ile)	not provided [RCV003437231]\|not specified [RCV000504434]	likely benign	X	49247754	49247754	Human		name
13214422	CV430816	single nucleotide variant	NM_014008.5(CCDC22):c.1135C>T (p.Arg379Cys)	not specified [RCV000501087]	uncertain significance	X	49248233	49248233	Human		name
13214130	CV430819	single nucleotide variant	NM_014008.5(CCDC22):c.1600C>T (p.Arg534Trp)	not specified [RCV000500882]	uncertain significance	X	49249227	49249227	Human		name
13522709	CV490239	single nucleotide variant	NM_014008.5(CCDC22):c.1037G>A (p.Arg346His)	not provided [RCV000592078]	uncertain significance	X	49247713	49247713	Human		name
13820767	CV576195	single nucleotide variant	NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly)	not provided [RCV000709824]	not provided	X	49248705	49248705	Human		name
14691355	CV622000	single nucleotide variant	NM_014008.5(CCDC22):c.1229G>A (p.Ser410Asn)	not provided [RCV000782082]	uncertain significance	X	49248423	49248423	Human		name
15186136	CV729635	single nucleotide variant	NM_014008.5(CCDC22):c.1651G>A (p.Asp551Asn)	not provided [RCV000886892]\|not specified [RCV004601304]	likely benign\|uncertain significance	X	49249524	49249524	Human		name
15106291	CV758550	single nucleotide variant	NM_014008.5(CCDC22):c.1738A>G (p.Ile580Val)	not provided [RCV000915720]	likely benign	X	49249693	49249693	Human		name
28887028	CV860895	single nucleotide variant	NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly)	Ritscher-Schinzel syndrome 2 [RCV001198509]\|not provided [RCV001091930]	uncertain significance	X	49248691	49248691	Human	1	name
38467285	CV921019	single nucleotide variant	NM_014008.5(CCDC22):c.1469G>A (p.Arg490Gln)	not provided [RCV001200325]	uncertain significance	X	49248854	49248854	Human		name
38597744	CV964619	single nucleotide variant	NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp)	Ritscher-Schinzel syndrome 2 [RCV001253075]\|not specified [RCV005306371]	uncertain significance	X	49250244	49250244	Human	1	name
41407911	CV983695	indel	NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg)	Ritscher-Schinzel syndrome 2 [RCV001290254]	uncertain significance	X	49243163	49243164	Human		name

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