Ctnnd1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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211 records found for search term Ctnnd1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
597665358	CV3651711	single nucleotide variant	NM_001085458.2(CTNND1):c.957-2A>G	Inborn genetic diseases [RCV004979304]	uncertain significance	11	57801731	57801731	Human	1	name
153347884	CV1694933	single nucleotide variant	NM_001085458.2(CTNND1):c.957-11A>G	not provided [RCV002278863]	uncertain significance	11	57801722	57801722	Human		name
405284667	CV3197019	duplication	NM_001085458.2(CTNND1):c.2702-7dup	CTNND1-related disorder [RCV003979860]	likely benign	11	57815375	57815376	Human		name , trait , alternate_id
405267666	CV3198426	single nucleotide variant	NM_001085458.2(CTNND1):c.2808+1G>C	CTNND1-related disorder [RCV003911795]	uncertain significance	11	57815501	57815501	Human		name , trait , alternate_id
405268716	CV3199056	single nucleotide variant	NM_001085458.2(CTNND1):c.2435+6C>G	CTNND1-related disorder [RCV003912161]\|not provided [RCV005242468]	likely benign	11	57809472	57809472	Human	1	name , trait , alternate_id
405266214	CV3201921	single nucleotide variant	NM_001085458.2(CTNND1):c.2092-7A>G	CTNND1-related disorder [RCV003911410]	likely benign	11	57808383	57808383	Human		name , trait , alternate_id
407429468	CV3413748	single nucleotide variant	NM_001085458.2(CTNND1):c.2550+1G>A	Blepharocheilodontic syndrome 2 [RCV004595157]	pathogenic	11	57810224	57810224	Human	1	name
596932187	CV3533917	single nucleotide variant	NM_001085458.2(CTNND1):c.2638+2T>G	Blepharocheilodontic syndrome 2 [RCV004781982]	pathogenic	11	57811488	57811488	Human	1	name
617151252	CV4017802	single nucleotide variant	NM_001085458.2(CTNND1):c.1722+2T>G	Blepharocheilodontic syndrome 2 [RCV005417590]	likely pathogenic	11	57804782	57804782	Human	1	name
26887585	CV822288	single nucleotide variant	NM_001085458.2(CTNND1):c.2435+1G>T	Cleft lip with or without cleft palate [RCV001034559]	pathogenic	11	57809467	57809467	Human	1	name
150492874	CV1257440	single nucleotide variant	NM_001085458.2(CTNND1):c.2895+73C>T	not provided [RCV001675113]	benign	11	57816074	57816074	Human		name
150444331	CV1266516	single nucleotide variant	NM_001085458.2(CTNND1):c.956+132G>T	not provided [RCV001690952]	benign	11	57797124	57797124	Human		name
150450859	CV1220788	single nucleotide variant	NM_001085458.2(CTNND1):c.2639-170C>A	not provided [RCV001611882]	benign	11	57814141	57814141	Human		name
150438429	CV1247170	single nucleotide variant	NM_001085458.2(CTNND1):c.2243-120A>G	not provided [RCV001665939]	benign	11	57809154	57809154	Human	1	name
150438429	CV1247170	single nucleotide variant	NM_001085458.2(CTNND1):c.2243-120A>G	not provided [RCV001665939]	benign	11	57809154	57809155	Human	1	name
150484669	CV1263228	single nucleotide variant	NM_001085458.2(CTNND1):c.2435+158A>G	not provided [RCV001686628]	benign	11	57809624	57809624	Human		name
150462547	CV1276096	single nucleotide variant	NM_001085458.2(CTNND1):c.1420+160A>T	not provided [RCV001710041]	benign	11	57802356	57802356	Human		name
8653100	CV129675	single nucleotide variant	NM_001085458.1(CTNND1):c.-214+9898G>T	Lung cancer [RCV000110162]	uncertain significance	11	57772017	57772017	Human		name
329953523	CV2668469	single nucleotide variant	NM_001085458.2(CTNND1):c.7G>T (p.Asp3Tyr)	not provided [RCV003230122]	uncertain significance	11	57791485	57791485	Human		name
405292415	CV3196451	single nucleotide variant	NM_001085458.2(CTNND1):c.42C>T (p.Ala14=)	CTNND1-related disorder [RCV003964536]	likely benign	11	57791520	57791520	Human		name , trait , alternate_id
408367066	CV3511911	deletion	NM_001085458.2(CTNND1):c.2702-8_2702-7del	CTNND1-related disorder [RCV004757764]	likely benign	11	57815376	57815377	Human		name , trait , alternate_id
405699273	CV3246221	single nucleotide variant	NM_001085458.2(CTNND1):c.22T>G (p.Ser8Ala)	Inborn genetic diseases [RCV004374957]	uncertain significance	11	57791500	57791500	Human	1	name
150435469	CV1228158	single nucleotide variant	NM_001085458.2(CTNND1):c.483C>T (p.Asp161=)	Blepharocheilodontic syndrome 2 [RCV001658347]\|not provided [RCV001638436]	benign	11	57796519	57796519	Human	1	name
155982751	CV2347782	single nucleotide variant	NM_001085458.2(CTNND1):c.28G>C (p.Ala10Pro)	Inborn genetic diseases [RCV002946820]	uncertain significance	11	57791506	57791506	Human	1	name
405260267	CV3190378	single nucleotide variant	NM_001085458.2(CTNND1):c.942T>A (p.Pro314=)	CTNND1-related disorder [RCV003894773]	likely benign	11	57796978	57796978	Human		name , trait , alternate_id
405699879	CV3246226	single nucleotide variant	NM_001085458.2(CTNND1):c.29C>T (p.Ala10Val)	Inborn genetic diseases [RCV004374962]	uncertain significance	11	57791507	57791507	Human	1	name
408387066	CV3518678	single nucleotide variant	NM_001085458.2(CTNND1):c.70G>A (p.Glu24Lys)	not provided [RCV004760997]	uncertain significance	11	57791548	57791548	Human		name
15101297	CV701811	single nucleotide variant	NM_001085458.2(CTNND1):c.738A>G (p.Glu246=)	not provided [RCV000959060]	benign	11	57796774	57796774	Human		name
26887598	CV818767	single nucleotide variant	NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu)	Cleft lip with or without cleft palate [RCV001034564]\|not provided [RCV003227896]	likely pathogenic\|uncertain significance	11	57791533	57791533	Human	1	name
150532392	CV1299781	single nucleotide variant	NM_001085458.2(CTNND1):c.148G>C (p.Asp50His)	not provided [RCV001752707]	uncertain significance	11	57791626	57791626	Human		name
151662012	CV1330175	single nucleotide variant	NM_001085458.2(CTNND1):c.2091G>A (p.Thr697=)	Blepharocheilodontic syndrome 2 [RCV001823586]	uncertain significance	11	57808292	57808292	Human	1	name
155952756	CV2264268	single nucleotide variant	NM_001085458.2(CTNND1):c.199G>C (p.Gly67Arg)	Inborn genetic diseases [RCV002840536]	uncertain significance	11	57794013	57794013	Human	1	name
156239093	CV2285942	single nucleotide variant	NM_001085458.2(CTNND1):c.116C>T (p.Ala39Val)	Inborn genetic diseases [RCV002854131]	uncertain significance	11	57791594	57791594	Human	1	name
156039829	CV2384299	single nucleotide variant	NM_001085458.2(CTNND1):c.202C>T (p.Arg68Trp)	CTNND1-related disorder [RCV003954032]\|Inborn genetic diseases [RCV002704271]	likely benign\|uncertain significance	11	57794016	57794016	Human	2	name , trait , alternate_id
243057795	CV2419798	duplication	NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)	Blepharocheilodontic syndrome 2 [RCV003157999]	pathogenic	11	57796597	57796598	Human	1	name
401905241	CV2816641	single nucleotide variant	NM_001085458.2(CTNND1):c.1209C>T (p.Asp403=)	CTNND1-related disorder [RCV003919099]\|not provided [RCV003395802]	likely benign	11	57801985	57801985	Human	1	name , trait , alternate_id
401905473	CV2816644	single nucleotide variant	NM_001085458.2(CTNND1):c.2631A>G (p.Gln877=)	not provided [RCV003395805]	likely benign	11	57811479	57811479	Human		name
405274311	CV3211711	single nucleotide variant	NM_001085458.2(CTNND1):c.1152C>T (p.Ser384=)	CTNND1-related disorder [RCV003951514]	likely benign	11	57801928	57801928	Human		name , trait , alternate_id
405279142	CV3217382	single nucleotide variant	NM_001085458.2(CTNND1):c.1086T>C (p.Asn362=)	CTNND1-related disorder [RCV003976810]	likely benign	11	57801862	57801862	Human		name , trait , alternate_id
405699258	CV3246218	single nucleotide variant	NM_001085458.2(CTNND1):c.200G>A (p.Gly67Asp)	Inborn genetic diseases [RCV004374954]	uncertain significance	11	57794014	57794014	Human	1	name
408373761	CV3502346	single nucleotide variant	NM_001085458.2(CTNND1):c.245A>T (p.Asp82Val)	not provided [RCV004725933]	uncertain significance	11	57794059	57794059	Human		name
408384846	CV3506359	deletion	NM_001085458.2(CTNND1):c.904del (p.Tyr302fs)	CTNND1-related disorder [RCV004732164]	likely pathogenic	11	57796939	57796939	Human		name , trait , alternate_id
597665371	CV3651713	single nucleotide variant	NM_001085458.2(CTNND1):c.247T>A (p.Leu83Met)	Inborn genetic diseases [RCV004979306]	uncertain significance	11	57794061	57794061	Human	1	name
597657842	CV3731723	single nucleotide variant	NM_001085458.2(CTNND1):c.130G>C (p.Val44Leu)	Inborn genetic diseases [RCV005323674]\|not provided [RCV005001904]	uncertain significance	11	57791608	57791608	Human	1	name
598129866	CV3887289	single nucleotide variant	NM_001085458.2(CTNND1):c.2349C>T (p.Asn783=)	not provided [RCV005245349]	likely benign	11	57809380	57809380	Human		name
598221099	CV3959752	single nucleotide variant	NM_001085458.2(CTNND1):c.134G>A (p.Arg45Gln)	Inborn genetic diseases [RCV005317647]	uncertain significance	11	57791612	57791612	Human	1	name
13435701	CV432448	deletion	NM_001085458.2(CTNND1):c.606del (p.Pro203fs)	Blepharocheilodontic syndrome 2 [RCV000505783]	pathogenic	11	57796641	57796641	Human	1	name
15190973	CV701812	single nucleotide variant	NM_001085458.2(CTNND1):c.2760G>A (p.Ser920=)	not provided [RCV000954636]	benign\|likely benign	11	57815452	57815452	Human		name
15196660	CV724491	single nucleotide variant	NM_001085458.2(CTNND1):c.155A>G (p.Asn52Ser)	not provided [RCV000889834]	likely benign	11	57791633	57791633	Human		name
15171950	CV724492	single nucleotide variant	NM_001085458.2(CTNND1):c.2709C>T (p.Asn903=)	not provided [RCV000883748]	benign	11	57815401	57815401	Human		name
15121827	CV738036	single nucleotide variant	NM_001085458.2(CTNND1):c.257A>G (p.Asn86Ser)	CTNND1-related disorder [RCV003950468]\|not provided [RCV000896134]	benign\|likely benign	11	57794071	57794071	Human	1	name , trait , alternate_id
15178153	CV768492	single nucleotide variant	NM_001085458.2(CTNND1):c.2412G>A (p.Lys804=)	not provided [RCV000929327]	likely benign	11	57809443	57809443	Human		name
150520718	CV1290575	single nucleotide variant	NM_001085458.2(CTNND1):c.323T>C (p.Ile108Thr)	not provided [RCV001732267]	uncertain significance	11	57795632	57795632	Human		name
150541223	CV1301191	single nucleotide variant	NM_001085458.2(CTNND1):c.410C>T (p.Thr137Ile)	not provided [RCV001767601]	uncertain significance	11	57795719	57795719	Human		name
150536613	CV1312486	deletion	NM_001085458.2(CTNND1):c.1754del (p.Asn585fs)	Blepharocheilodontic syndrome 2 [RCV001780590]	pathogenic	11	57805912	57805912	Human	1	name
156002707	CV2257989	single nucleotide variant	NM_001085458.2(CTNND1):c.566G>T (p.Gly189Val)	Inborn genetic diseases [RCV002794655]	uncertain significance	11	57796602	57796602	Human	1	name
156171199	CV2286627	single nucleotide variant	NM_001085458.2(CTNND1):c.308A>G (p.Gln103Arg)	Inborn genetic diseases [RCV002873113]	uncertain significance	11	57795617	57795617	Human	1	name
156049738	CV2319329	single nucleotide variant	NM_001085458.2(CTNND1):c.946C>T (p.Arg316Trp)	Inborn genetic diseases [RCV002950035]\|not provided [RCV005242337]	uncertain significance	11	57796982	57796982	Human	1	name
156234189	CV2346260	single nucleotide variant	NM_001085458.2(CTNND1):c.719G>A (p.Arg240Gln)	Inborn genetic diseases [RCV002986961]	uncertain significance	11	57796755	57796755	Human	1	name
155988732	CV2355154	single nucleotide variant	NM_001085458.2(CTNND1):c.406C>T (p.Arg136Cys)	Inborn genetic diseases [RCV002974501]	uncertain significance	11	57795715	57795715	Human	1	name
155911208	CV2362343	single nucleotide variant	NM_001085458.2(CTNND1):c.917G>A (p.Arg306His)	Inborn genetic diseases [RCV002991318]	uncertain significance	11	57796953	57796953	Human	1	name
155927030	CV2365861	single nucleotide variant	NM_001085458.2(CTNND1):c.511T>G (p.Ser171Ala)	Inborn genetic diseases [RCV002992753]	uncertain significance	11	57796547	57796547	Human	1	name
155938319	CV2380692	single nucleotide variant	NM_001085458.2(CTNND1):c.654A>T (p.Glu218Asp)	Inborn genetic diseases [RCV002729808]	uncertain significance	11	57796690	57796690	Human	1	name
155928665	CV2388938	single nucleotide variant	NM_001085458.2(CTNND1):c.598G>T (p.Ala200Ser)	Inborn genetic diseases [RCV002773989]	uncertain significance	11	57796634	57796634	Human	1	name
156320647	CV2401450	single nucleotide variant	NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)	Blepharocheilodontic syndrome 2 [RCV002810037]	likely pathogenic	11	57796542	57796542	Human	1	name
329358660	CV2450656	single nucleotide variant	NM_001085458.2(CTNND1):c.643C>A (p.Arg215Ser)	Inborn genetic diseases [RCV003204126]	uncertain significance	11	57796679	57796679	Human	1	name
329388428	CV2471923	single nucleotide variant	NM_001085458.2(CTNND1):c.407G>A (p.Arg136His)	Inborn genetic diseases [RCV003215763]	uncertain significance	11	57795716	57795716	Human	1	name
329349893	CV2477224	single nucleotide variant	NM_001085458.2(CTNND1):c.313C>T (p.Pro105Ser)	not provided [RCV003221549]	uncertain significance	11	57795622	57795622	Human		name
329953849	CV2669186	single nucleotide variant	NM_001085458.2(CTNND1):c.871T>A (p.Tyr291Asn)	not provided [RCV003231690]	uncertain significance	11	57796907	57796907	Human		name
329952322	CV2671671	single nucleotide variant	NM_001085458.2(CTNND1):c.916C>G (p.Arg306Gly)	not provided [RCV003237067]	uncertain significance	11	57796952	57796952	Human		name
401747775	CV2689007	single nucleotide variant	NM_001085458.2(CTNND1):c.331A>G (p.Thr111Ala)	Inborn genetic diseases [RCV003276045]	uncertain significance	11	57795640	57795640	Human	1	name
401735744	CV2692188	single nucleotide variant	NM_001085458.2(CTNND1):c.643C>T (p.Arg215Cys)	Inborn genetic diseases [RCV003249860]	uncertain significance	11	57796679	57796679	Human	1	name
401759969	CV2718666	single nucleotide variant	NM_001085458.2(CTNND1):c.362T>C (p.Met121Thr)	Inborn genetic diseases [RCV003299377]	uncertain significance	11	57795671	57795671	Human	1	name
401914668	CV2830789	single nucleotide variant	NM_001085458.2(CTNND1):c.865A>G (p.Met289Val)	not provided [RCV003442527]	conflicting interpretations of pathogenicity\|uncertain significance	11	57796901	57796901	Human		name
401943266	CV2839987	single nucleotide variant	NM_001085458.2(CTNND1):c.421G>A (p.Val141Ile)	not provided [RCV003456774]	uncertain significance	11	57796457	57796457	Human		name
405260144	CV3190247	duplication	NM_001085458.2(CTNND1):c.1098dup (p.Glu367fs)	CTNND1-related disorder [RCV003894646]	likely pathogenic	11	57801873	57801874	Human		name , trait , alternate_id
405275755	CV3196414	single nucleotide variant	NM_001085458.2(CTNND1):c.337A>C (p.Thr113Pro)	CTNND1-related disorder [RCV003974251]	likely benign	11	57795646	57795646	Human		name , trait , alternate_id
405260365	CV3204022	single nucleotide variant	NM_001085458.2(CTNND1):c.322A>T (p.Ile108Phe)	CTNND1-related disorder [RCV003943902]	likely benign	11	57795631	57795631	Human		name , trait , alternate_id
405292985	CV3207144	single nucleotide variant	NM_001085458.2(CTNND1):c.860G>A (p.Arg287His)	CTNND1-related disorder [RCV003931550]	likely benign	11	57796896	57796896	Human		name , trait , alternate_id
405699306	CV3246227	single nucleotide variant	NM_001085458.2(CTNND1):c.419C>T (p.Thr140Met)	Inborn genetic diseases [RCV004374963]	uncertain significance	11	57795728	57795728	Human	1	name
405699311	CV3246228	single nucleotide variant	NM_001085458.2(CTNND1):c.454A>G (p.Thr152Ala)	Inborn genetic diseases [RCV004374964]	uncertain significance	11	57796490	57796490	Human	1	name
405699315	CV3246229	single nucleotide variant	NM_001085458.2(CTNND1):c.484G>A (p.Gly162Arg)	Inborn genetic diseases [RCV004374965]	uncertain significance	11	57796520	57796520	Human	1	name
405699322	CV3246230	single nucleotide variant	NM_001085458.2(CTNND1):c.542A>G (p.Asp181Gly)	Inborn genetic diseases [RCV004374966]	uncertain significance	11	57796578	57796578	Human	1	name
405699328	CV3246231	single nucleotide variant	NM_001085458.2(CTNND1):c.548G>C (p.Arg183Pro)	Inborn genetic diseases [RCV004374967]	uncertain significance	11	57796584	57796584	Human	1	name
405699333	CV3246232	single nucleotide variant	NM_001085458.2(CTNND1):c.746G>A (p.Arg249Gln)	Inborn genetic diseases [RCV004374968]	uncertain significance	11	57796782	57796782	Human	1	name
405699340	CV3246233	single nucleotide variant	NM_001085458.2(CTNND1):c.749C>T (p.Ala250Val)	Inborn genetic diseases [RCV004374969]	uncertain significance	11	57796785	57796785	Human	1	name
405699345	CV3246234	single nucleotide variant	NM_001085458.2(CTNND1):c.916C>T (p.Arg306Cys)	Inborn genetic diseases [RCV004374970]	uncertain significance	11	57796952	57796952	Human	1	name
405699352	CV3246235	single nucleotide variant	NM_001085458.2(CTNND1):c.958A>G (p.Ser320Gly)	Inborn genetic diseases [RCV004374971]	uncertain significance	11	57801734	57801734	Human	1	name
407472463	CV3426324	single nucleotide variant	NM_001085458.2(CTNND1):c.897G>A (p.Met299Ile)	Inborn genetic diseases [RCV004615932]	uncertain significance	11	57796933	57796933	Human	1	name
407472470	CV3426325	single nucleotide variant	NM_001085458.2(CTNND1):c.700G>A (p.Val234Met)	Inborn genetic diseases [RCV004615933]	uncertain significance	11	57796736	57796736	Human	1	name
407472476	CV3426326	single nucleotide variant	NM_001085458.2(CTNND1):c.628C>A (p.Pro210Thr)	Inborn genetic diseases [RCV004615934]	uncertain significance	11	57796664	57796664	Human	1	name
408374736	CV3502494	single nucleotide variant	NM_001085458.2(CTNND1):c.815T>C (p.Leu272Pro)	not provided [RCV004726081]	uncertain significance	11	57796851	57796851	Human		name
408387148	CV3518719	single nucleotide variant	NM_001085458.2(CTNND1):c.923C>T (p.Thr308Ile)	not provided [RCV004761038]	uncertain significance	11	57796959	57796959	Human		name
408388414	CV3520786	single nucleotide variant	NM_001085458.2(CTNND1):c.596C>T (p.Thr199Ile)	not provided [RCV004761619]	uncertain significance	11	57796632	57796632	Human		name
596942918	CV3542700	single nucleotide variant	NM_001085458.2(CTNND1):c.905A>T (p.Tyr302Phe)	not provided [RCV004798284]	uncertain significance	11	57796941	57796941	Human		name
597665365	CV3651712	single nucleotide variant	NM_001085458.2(CTNND1):c.482A>G (p.Asp161Gly)	Inborn genetic diseases [RCV004979305]	uncertain significance	11	57796518	57796518	Human	1	name
598129117	CV3888410	single nucleotide variant	NM_001085458.2(CTNND1):c.578A>G (p.Tyr193Cys)	not provided [RCV005244584]	uncertain significance	11	57796614	57796614	Human		name
598175735	CV3891029	single nucleotide variant	NM_001085458.2(CTNND1):c.751C>T (p.Pro251Ser)	not provided [RCV005251882]	uncertain significance	11	57796787	57796787	Human		name
598216012	CV3891557	deletion	NM_001085458.2(CTNND1):c.2737del (p.His913fs)	Blepharocheilodontic syndrome 2 [RCV005252399]	likely pathogenic	11	57815428	57815428	Human	1	name
598233779	CV3893649	single nucleotide variant	NM_001085458.2(CTNND1):c.804C>G (p.Ser268Arg)	not provided [RCV005256382]	uncertain significance	11	57796840	57796840	Human		name
598221083	CV3959749	single nucleotide variant	NM_001085458.2(CTNND1):c.548G>A (p.Arg183His)	Inborn genetic diseases [RCV005317644]	uncertain significance	11	57796584	57796584	Human	1	name
598221104	CV3959753	single nucleotide variant	NM_001085458.2(CTNND1):c.403C>T (p.Arg135Trp)	Inborn genetic diseases [RCV005317648]	uncertain significance	11	57795712	57795712	Human	1	name
126728334	CV1017467	single nucleotide variant	NM_001085458.2(CTNND1):c.1186C>G (p.Arg396Gly)	Blepharocheilodontic syndrome 2 [RCV001332801]	uncertain significance	11	57801962	57801962	Human	1	name
126913813	CV1038071	single nucleotide variant	NM_001085458.2(CTNND1):c.2224C>T (p.Arg742Cys)	Inborn genetic diseases [RCV003169770]\|not provided [RCV001357720]	uncertain significance	11	57808522	57808522	Human	1	name
126910953	CV1038072	single nucleotide variant	NM_001085458.2(CTNND1):c.2318A>G (p.Asp773Gly)	not provided [RCV001354836]	uncertain significance	11	57809349	57809349	Human		name
150333515	CV1164393	single nucleotide variant	NM_001085458.2(CTNND1):c.1949C>T (p.Thr650Met)	Inborn genetic diseases [RCV002568870]\|not provided [RCV001528955]	uncertain significance	11	57806969	57806969	Human	1	name
150497379	CV1271719	single nucleotide variant	NM_001085458.2(CTNND1):c.2744G>A (p.Arg915Lys)	CTNND1-related disorder [RCV003921340]\|not provided [RCV001689020]	benign	11	57815436	57815436	Human	1	name , trait , alternate_id
150521067	CV1290820	single nucleotide variant	NM_001085458.2(CTNND1):c.2389C>T (p.Arg797Ter)	not provided [RCV001732472]	pathogenic	11	57809420	57809420	Human		name
150543835	CV1295799	single nucleotide variant	NM_001085458.2(CTNND1):c.1180T>C (p.Cys394Arg)	not provided [RCV001771030]	likely pathogenic\|uncertain significance	11	57801956	57801956	Human		name
150544270	CV1297655	single nucleotide variant	NM_001085458.2(CTNND1):c.1600C>G (p.Leu534Val)	not provided [RCV001772562]	uncertain significance	11	57803800	57803800	Human		name
150543859	CV1304132	single nucleotide variant	NM_001085458.2(CTNND1):c.2714C>A (p.Ser905Tyr)	Inborn genetic diseases [RCV002540519]\|not provided [RCV001771102]	uncertain significance	11	57815406	57815406	Human	1	name
151349124	CV1324346	single nucleotide variant	NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter)	Blepharocheilodontic syndrome 2 [RCV001808263]	likely pathogenic	11	57808531	57808531	Human	1	name
151717194	CV1334883	single nucleotide variant	NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter)	Blepharocheilodontic syndrome 2 [RCV001843838]\|not provided [RCV004812417]	pathogenic\|likely pathogenic	11	57801806	57801806	Human	1	name
153301503	CV1685767	single nucleotide variant	NM_001085458.2(CTNND1):c.1370T>C (p.Val457Ala)	not provided [RCV002260744]	uncertain significance	11	57802146	57802146	Human		name
153347940	CV1694989	single nucleotide variant	NM_001085458.2(CTNND1):c.1033G>A (p.Gly345Arg)	not provided [RCV002278920]	uncertain significance	11	57801809	57801809	Human		name
155645496	CV1708954	single nucleotide variant	NM_001085458.2(CTNND1):c.2756G>T (p.Arg919Leu)	not provided [RCV002291830]	uncertain significance	11	57815448	57815448	Human		name
155803925	CV1858493	single nucleotide variant	NM_001085458.2(CTNND1):c.1451C>G (p.Ser484Ter)	not provided [RCV002462803]	pathogenic	11	57803651	57803651	Human		name
155797465	CV1859324	single nucleotide variant	NM_001085458.2(CTNND1):c.2566G>C (p.Ala856Pro)	not provided [RCV002464952]	uncertain significance	11	57811414	57811414	Human		name
156266152	CV2198721	single nucleotide variant	NM_001085458.2(CTNND1):c.1774C>T (p.Arg592Trp)	Inborn genetic diseases [RCV002669257]	uncertain significance	11	57805933	57805933	Human	1	name
156142417	CV2200011	single nucleotide variant	NM_001085458.2(CTNND1):c.1891A>G (p.Arg631Gly)	Inborn genetic diseases [RCV002641358]	uncertain significance	11	57806475	57806475	Human	1	name
156389067	CV2229884	single nucleotide variant	NM_001085458.2(CTNND1):c.1903C>T (p.Pro635Ser)	Inborn genetic diseases [RCV002724270]	uncertain significance	11	57806923	57806923	Human	1	name
156026401	CV2271061	single nucleotide variant	NM_001085458.2(CTNND1):c.2278C>T (p.Pro760Ser)	Inborn genetic diseases [RCV002845047]	uncertain significance	11	57809309	57809309	Human	1	name
156275328	CV2279957	single nucleotide variant	NM_001085458.2(CTNND1):c.1154A>G (p.Asn385Ser)	Inborn genetic diseases [RCV002832565]	uncertain significance	11	57801930	57801930	Human	1	name
156068784	CV2292616	single nucleotide variant	NM_001085458.2(CTNND1):c.2845G>T (p.Asp949Tyr)	Inborn genetic diseases [RCV002886766]	uncertain significance	11	57815951	57815951	Human	1	name
155931942	CV2293802	single nucleotide variant	NM_001085458.2(CTNND1):c.1954C>G (p.Pro652Ala)	Inborn genetic diseases [RCV002861098]	uncertain significance	11	57806974	57806974	Human	1	name
156098652	CV2294567	single nucleotide variant	NM_001085458.2(CTNND1):c.1487C>G (p.Ala496Gly)	Inborn genetic diseases [RCV002870298]\|not provided [RCV004725606]	uncertain significance	11	57803687	57803687	Human	1	name
155966882	CV2329851	single nucleotide variant	NM_001085458.2(CTNND1):c.2399A>G (p.Gln800Arg)	Blepharocheilodontic syndrome 2 [RCV005400552]\|Inborn genetic diseases [RCV002945435]	likely benign\|uncertain significance	11	57809430	57809430	Human	2	name
156224578	CV2395200	single nucleotide variant	NM_001085458.2(CTNND1):c.2120G>A (p.Arg707His)	Inborn genetic diseases [RCV002744957]	uncertain significance	11	57808418	57808418	Human	1	name
243051637	CV2404009	single nucleotide variant	NM_001085458.2(CTNND1):c.1513C>T (p.His505Tyr)	not provided [RCV003129058]	uncertain significance	11	57803713	57803713	Human		name
243056594	CV2418830	single nucleotide variant	NM_001085458.2(CTNND1):c.1423A>G (p.Thr475Ala)	not specified [RCV003155797]	uncertain significance	11	57803623	57803623	Human		name
329350626	CV2421752	single nucleotide variant	NM_001085458.2(CTNND1):c.2528G>A (p.Gly843Glu)	not provided [RCV003159455]	uncertain significance	11	57810201	57810201	Human		name
329382402	CV2465214	single nucleotide variant	NM_001085458.2(CTNND1):c.1186C>T (p.Arg396Cys)	Inborn genetic diseases [RCV003213409]	uncertain significance	11	57801962	57801962	Human	1	name
329953423	CV2668401	single nucleotide variant	NM_001085458.2(CTNND1):c.2594A>G (p.Tyr865Cys)	not provided [RCV003230054]	uncertain significance	11	57811442	57811442	Human		name
329953433	CV2668412	single nucleotide variant	NM_001085458.2(CTNND1):c.2427C>A (p.Asn809Lys)	not provided [RCV003230065]	uncertain significance	11	57809458	57809458	Human		name
329955000	CV2670936	single nucleotide variant	NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)	Blepharocheilodontic syndrome 2 [RCV004786908]\|not provided [RCV003236204]	pathogenic	11	57802157	57802157	Human	1	name
401721471	CV2673727	single nucleotide variant	NM_001085458.2(CTNND1):c.1802A>G (p.Gln601Arg)	Inborn genetic diseases [RCV003244431]	uncertain significance	11	57805961	57805961	Human	1	name
401723676	CV2675038	single nucleotide variant	NM_001085458.2(CTNND1):c.2474T>C (p.Val825Ala)	Inborn genetic diseases [RCV003245244]	uncertain significance	11	57810147	57810147	Human	1	name
401759069	CV2694411	single nucleotide variant	NM_001085458.2(CTNND1):c.1315C>T (p.Arg439Cys)	Inborn genetic diseases [RCV003280043]	uncertain significance	11	57802091	57802091	Human	1	name
401760272	CV2694984	single nucleotide variant	NM_001085458.2(CTNND1):c.2741A>G (p.Asn914Ser)	Inborn genetic diseases [RCV003280456]	uncertain significance	11	57815433	57815433	Human	1	name
401759501	CV2701583	single nucleotide variant	NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)	Blepharocheilodontic syndrome 2 [RCV003492852]\|Inborn genetic diseases [RCV003256896]	uncertain significance	11	57805996	57805996	Human	2	name
401722917	CV2703541	single nucleotide variant	NM_001085458.2(CTNND1):c.1878T>G (p.Asp626Glu)	Inborn genetic diseases [RCV003268165]	uncertain significance	11	57806462	57806462	Human	1	name
401764646	CV2705173	single nucleotide variant	NM_001085458.2(CTNND1):c.1798T>A (p.Tyr600Asn)	Inborn genetic diseases [RCV003281915]	uncertain significance	11	57805957	57805957	Human	1	name
401761748	CV2713876	single nucleotide variant	NM_001085458.2(CTNND1):c.2213C>T (p.Ala738Val)	Inborn genetic diseases [RCV003257665]	uncertain significance	11	57808511	57808511	Human	1	name
401778244	CV2718607	single nucleotide variant	NM_001085458.2(CTNND1):c.1817A>G (p.Asn606Ser)	Inborn genetic diseases [RCV003263797]	likely benign	11	57805976	57805976	Human	1	name
401767066	CV2721463	single nucleotide variant	NM_001085458.2(CTNND1):c.2776A>C (p.Met926Leu)	Inborn genetic diseases [RCV003282749]	uncertain significance	11	57815468	57815468	Human	1	name
401797956	CV2739155	single nucleotide variant	NM_001085458.2(CTNND1):c.2144T>G (p.Ile715Arg)	not provided [RCV003318803]	uncertain significance	11	57808442	57808442	Human		name
401798973	CV2741548	single nucleotide variant	NM_001085458.2(CTNND1):c.1751G>A (p.Arg584Gln)	not provided [RCV003322956]	uncertain significance	11	57805910	57805910	Human		name
401828261	CV2744621	single nucleotide variant	NM_001085458.2(CTNND1):c.1418C>A (p.Thr473Asn)	not provided [RCV003328019]	uncertain significance	11	57802194	57802194	Human		name
401857281	CV2760061	single nucleotide variant	NM_001085458.2(CTNND1):c.1714G>C (p.Asp572His)	Inborn genetic diseases [RCV003356521]	uncertain significance	11	57804772	57804772	Human	1	name
401856181	CV2764433	single nucleotide variant	NM_001085458.2(CTNND1):c.1105C>T (p.Pro369Ser)	Inborn genetic diseases [RCV003340274]	uncertain significance	11	57801881	57801881	Human	1	name
401896290	CV2773829	single nucleotide variant	NM_001085458.2(CTNND1):c.2390G>A (p.Arg797Gln)	Inborn genetic diseases [RCV003373838]	uncertain significance	11	57809421	57809421	Human	1	name
401892075	CV2775919	single nucleotide variant	NM_001085458.2(CTNND1):c.1961G>A (p.Arg654Gln)	Inborn genetic diseases [RCV003355234]	uncertain significance	11	57806981	57806981	Human	1	name
401885677	CV2783346	single nucleotide variant	NM_001085458.2(CTNND1):c.1983G>T (p.Gln661His)	Inborn genetic diseases [RCV003386848]	uncertain significance	11	57808184	57808184	Human	1	name
401884662	CV2786539	single nucleotide variant	NM_001085458.2(CTNND1):c.1697T>C (p.Ile566Thr)	Inborn genetic diseases [RCV003386533]	uncertain significance	11	57804755	57804755	Human	1	name
401905243	CV2816642	single nucleotide variant	NM_001085458.2(CTNND1):c.2107C>T (p.Arg703Cys)	not provided [RCV003395803]	likely benign	11	57808405	57808405	Human		name
401914721	CV2830808	single nucleotide variant	NM_001085458.2(CTNND1):c.1079C>T (p.Pro360Leu)	not provided [RCV003442547]	uncertain significance	11	57801855	57801855	Human		name
405266697	CV3202009	single nucleotide variant	NM_001085458.2(CTNND1):c.2173C>T (p.Arg725Trp)	CTNND1-related disorder [RCV003911492]	benign	11	57808471	57808471	Human		name , trait , alternate_id
405699236	CV3246214	single nucleotide variant	NM_001085458.2(CTNND1):c.1269A>T (p.Glu423Asp)	Inborn genetic diseases [RCV004374950]	uncertain significance	11	57802045	57802045	Human	1	name
405699248	CV3246216	single nucleotide variant	NM_001085458.2(CTNND1):c.1926T>A (p.Asp642Glu)	Inborn genetic diseases [RCV004374952]	uncertain significance	11	57806946	57806946	Human	1	name
405699251	CV3246217	single nucleotide variant	NM_001085458.2(CTNND1):c.1967A>G (p.Tyr656Cys)	Inborn genetic diseases [RCV004374953]	uncertain significance	11	57808168	57808168	Human	1	name
405699264	CV3246219	single nucleotide variant	NM_001085458.2(CTNND1):c.2141C>T (p.Ala714Val)	Inborn genetic diseases [RCV004374955]	uncertain significance	11	57808439	57808439	Human	1	name
405699268	CV3246220	single nucleotide variant	NM_001085458.2(CTNND1):c.2254A>G (p.Ile752Val)	Inborn genetic diseases [RCV004374956]	uncertain significance	11	57809285	57809285	Human	1	name
405699282	CV3246222	single nucleotide variant	NM_001085458.2(CTNND1):c.2344A>G (p.Ile782Val)	Inborn genetic diseases [RCV004374958]	uncertain significance	11	57809375	57809375	Human	1	name
405699286	CV3246223	single nucleotide variant	NM_001085458.2(CTNND1):c.2506C>T (p.Arg836Trp)	Inborn genetic diseases [RCV004374959]	uncertain significance	11	57810179	57810179	Human	1	name
405699292	CV3246224	single nucleotide variant	NM_001085458.2(CTNND1):c.2653C>T (p.Arg885Trp)	Inborn genetic diseases [RCV004374960]	uncertain significance	11	57814325	57814325	Human	1	name
405699296	CV3246225	single nucleotide variant	NM_001085458.2(CTNND1):c.2686A>G (p.Asn896Asp)	Inborn genetic diseases [RCV004374961]	uncertain significance	11	57814358	57814358	Human	1	name
405873138	CV3398417	single nucleotide variant	NM_001085458.2(CTNND1):c.1054A>G (p.Ser352Gly)	not provided [RCV004575913]	uncertain significance	11	57801830	57801830	Human		name
407426744	CV3411544	single nucleotide variant	NM_001085458.2(CTNND1):c.2104A>T (p.Ile702Phe)	not provided [RCV004590722]	uncertain significance	11	57808402	57808402	Human		name
407428932	CV3413319	single nucleotide variant	NM_001085458.2(CTNND1):c.1889C>T (p.Ser630Phe)	Blepharocheilodontic syndrome 2 [RCV004594725]	uncertain significance	11	57806473	57806473	Human	1	name
407472444	CV3426321	single nucleotide variant	NM_001085458.2(CTNND1):c.1391G>A (p.Arg464His)	Inborn genetic diseases [RCV004615929]	uncertain significance	11	57802167	57802167	Human	1	name
407472451	CV3426322	single nucleotide variant	NM_001085458.2(CTNND1):c.1363G>T (p.Ala455Ser)	Inborn genetic diseases [RCV004615930]\|not provided [RCV005242566]	likely benign\|uncertain significance	11	57802139	57802139	Human	1	name
407472480	CV3426327	single nucleotide variant	NM_001085458.2(CTNND1):c.1195A>C (p.Lys399Gln)	Inborn genetic diseases [RCV004615935]	uncertain significance	11	57801971	57801971	Human	1	name
408375184	CV3502584	single nucleotide variant	NM_001085458.2(CTNND1):c.1340T>C (p.Ile447Thr)	not provided [RCV004726171]	uncertain significance	11	57802116	57802116	Human		name
408384787	CV3503565	single nucleotide variant	NM_001085458.2(CTNND1):c.2714C>T (p.Ser905Phe)	CTNND1-related disorder [RCV004732110]	uncertain significance	11	57815406	57815406	Human		name , trait , alternate_id
408383633	CV3506757	single nucleotide variant	NM_001085458.2(CTNND1):c.1702C>T (p.Gln568Ter)	CTNND1-related disorder [RCV004730702]	pathogenic	11	57804760	57804760	Human		name , trait , alternate_id
408366947	CV3507543	single nucleotide variant	NM_001085458.2(CTNND1):c.2342C>T (p.Thr781Ile)	CTNND1-related disorder [RCV004757643]	uncertain significance	11	57809373	57809373	Human		name , trait , alternate_id
408366929	CV3508043	single nucleotide variant	NM_001085458.2(CTNND1):c.2452G>T (p.Glu818Ter)	CTNND1-related disorder [RCV004757654]	likely pathogenic	11	57810125	57810125	Human		name , trait , alternate_id
408393654	CV3519863	single nucleotide variant	NM_001085458.2(CTNND1):c.2887C>G (p.Pro963Ala)	not provided [RCV004764159]	uncertain significance	11	57815993	57815993	Human		name
408388028	CV3520604	single nucleotide variant	NM_001085458.2(CTNND1):c.2591C>T (p.Ser864Leu)	not provided [RCV004761437]	uncertain significance	11	57811439	57811439	Human		name
408387011	CV3524344	single nucleotide variant	NM_001085458.2(CTNND1):c.1132C>T (p.Arg378Cys)	not provided [RCV004768218]	uncertain significance	11	57801908	57801908	Human		name
408391040	CV3527858	single nucleotide variant	NM_001085458.2(CTNND1):c.2051C>T (p.Ser684Leu)	not provided [RCV004775127]	uncertain significance	11	57808252	57808252	Human		name
597631108	CV3552623	single nucleotide variant	NM_001085458.2(CTNND1):c.1960C>T (p.Arg654Ter)	not provided [RCV004823322]	pathogenic	11	57806980	57806980	Human		name
597665377	CV3651714	single nucleotide variant	NM_001085458.2(CTNND1):c.2732G>A (p.Gly911Glu)	Inborn genetic diseases [RCV004979307]	uncertain significance	11	57815424	57815424	Human	1	name
597846345	CV3880620	single nucleotide variant	NM_001085458.2(CTNND1):c.1124T>G (p.Leu375Arg)	not provided [RCV005227508]	uncertain significance	11	57801900	57801900	Human		name
598216363	CV3895181	single nucleotide variant	NM_001085458.2(CTNND1):c.1514A>G (p.His505Arg)	Blepharocheilodontic syndrome 2 [RCV005360092]	uncertain significance	11	57803714	57803714	Human	1	name
598221077	CV3959748	single nucleotide variant	NM_001085458.2(CTNND1):c.1276C>T (p.Leu426Phe)	Inborn genetic diseases [RCV005317643]	uncertain significance	11	57802052	57802052	Human	1	name
598221088	CV3959750	single nucleotide variant	NM_001085458.2(CTNND1):c.2321C>G (p.Thr774Ser)	Inborn genetic diseases [RCV005317645]	uncertain significance	11	57809352	57809352	Human	1	name
598221093	CV3959751	single nucleotide variant	NM_001085458.2(CTNND1):c.1736G>C (p.Cys579Ser)	Inborn genetic diseases [RCV005317646]	uncertain significance	11	57805895	57805895	Human	1	name
616937891	CV4014791	single nucleotide variant	NM_001085458.2(CTNND1):c.2299T>C (p.Ser767Pro)	not provided [RCV005411807]	uncertain significance	11	57809330	57809330	Human		name
616937786	CV4014846	single nucleotide variant	NM_001085458.2(CTNND1):c.1448A>C (p.Asp483Ala)	not provided [RCV005411862]	uncertain significance	11	57803648	57803648	Human		name
13435682	CV432446	single nucleotide variant	NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter)	Blepharocheilodontic syndrome 2 [RCV000505713]	pathogenic	11	57808396	57808396	Human	1	name
13435683	CV432447	single nucleotide variant	NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)	Blepharocheilodontic syndrome 2 [RCV000505753]	pathogenic	11	57801869	57801869	Human	1	name
13611157	CV514627	single nucleotide variant	NM_001085458.2(CTNND1):c.1088G>A (p.Trp363Ter)	not provided [RCV000627330]	pathogenic	11	57801864	57801864	Human		name
15151786	CV712889	single nucleotide variant	NM_001085458.2(CTNND1):c.1390C>T (p.Arg464Cys)	not provided [RCV000968214]	benign	11	57802166	57802166	Human		name
15146701	CV712890	single nucleotide variant	NM_001085458.2(CTNND1):c.2642A>C (p.Lys881Thr)	not provided [RCV000967204]	benign	11	57814314	57814314	Human		name
15136173	CV738037	single nucleotide variant	NM_001085458.2(CTNND1):c.1537A>G (p.Asn513Asp)	CTNND1-related disorder [RCV004757311]\|not provided [RCV000898586]	likely benign	11	57803737	57803737	Human	1	name , trait , alternate_id
21068863	CV788851	single nucleotide variant	NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)	Blepharocheilodontic syndrome 2 [RCV000985038]\|Cleft lip with or without cleft palate [RCV001034557]	pathogenic\|likely pathogenic	11	57811420	57811420	Human	2	name
26887580	CV818769	single nucleotide variant	NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter)	Cleft lip with or without cleft palate [RCV001034556]	pathogenic	11	57801783	57801783	Human	1	name
26887586	CV818770	single nucleotide variant	NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly)	Cleft lip with or without cleft palate [RCV001034560]	likely pathogenic	11	57803696	57803696	Human	1	name
26887589	CV818771	single nucleotide variant	NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe)	Cleft lip with or without cleft palate [RCV001034561]\|not provided [RCV003389857]	likely pathogenic\|uncertain significance	11	57804730	57804730	Human	1	name
26887601	CV818772	single nucleotide variant	NM_001085458.2(CTNND1):c.1687C>G (p.Gln563Glu)	Cleft lip with or without cleft palate [RCV001034566]	uncertain significance	11	57804745	57804745	Human	1	name
26887599	CV818773	single nucleotide variant	NM_001085458.2(CTNND1):c.1721A>G (p.Lys574Arg)	Cleft lip with or without cleft palate [RCV001034565]	uncertain significance	11	57804779	57804779	Human	1	name
26887590	CV818774	single nucleotide variant	NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp)	Cleft lip with or without cleft palate [RCV001034562]\|not provided [RCV004721711]	pathogenic\|likely pathogenic	11	57805909	57805909	Human	1	name
26887594	CV818775	single nucleotide variant	NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys)	Cleft lip with or without cleft palate [RCV001034563]	likely pathogenic	11	57808289	57808289	Human	1	name
38461904	CV919368	single nucleotide variant	NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)	Blepharocheilodontic syndrome 2 [RCV001198014]	likely pathogenic	11	57804745	57804745	Human	1	name
26887581	CV818768	deletion	NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs)	Cleft lip with or without cleft palate [RCV001034558]	pathogenic	11	57796973	57796974	Human	1	name
401905244	CV2816643	microsatellite	NM_001085458.2(CTNND1):c.2522AAG[1] (p.Glu842del)	not provided [RCV003395804]	uncertain significance	11	57810195	57810197	Human		name
596939897	CV3550671	microsatellite	NM_001085458.2(CTNND1):c.2011CTT[1] (p.Leu672del)	not provided [RCV004814571]	uncertain significance	11	57808212	57808214	Human		name
616940168	CV4014677	deletion	NM_001085458.2(CTNND1):c.1352_1354del (p.Asp451del)	not provided [RCV005414171]	uncertain significance	11	57802126	57802128	Human		name
597833346	CV3735551	indel	NM_001085458.2(CTNND1):c.481_483delinsCAT (p.Asp161His)	not provided [RCV005063413]	uncertain significance	11	57796517	57796519	Human		name
596931204	CV3531537	deletion	NM_001085458.2(CTNND1):c.2013_2039del (p.Lys673_Leu681del)	not provided [RCV004781099]	uncertain significance	11	57808213	57808239	Human		name

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