1500[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2503288	NM_001085458.2(CTNND1):c.7G>T (p.Asp3Tyr)	CTNND1, TMX2-CTNND1 (D3Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3078668	NM_001085458.2(CTNND1):c.22T>G (p.Ser8Ala)	CTNND1, TMX2-CTNND1 (S8A)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2355849	NM_001085458.2(CTNND1):c.28G>C (p.Ala10Pro)	CTNND1, TMX2-CTNND1 (A10P)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3078673	NM_001085458.2(CTNND1):c.29C>T (p.Ala10Val)	CTNND1, TMX2-CTNND1 (A10V)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3057422	NM_001085458.2(CTNND1):c.42C>T (p.Ala14=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +3 more)	CTNND1-related disorder	GLikely benign
Select item 834019	NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu)	CTNND1, TMX2-CTNND1 (Q19E)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2290092	NM_001085458.2(CTNND1):c.116C>T (p.Ala39Val)	CTNND1, TMX2-CTNND1 (A39V)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1311724	NM_001085458.2(CTNND1):c.148G>C (p.Asp50His)	CTNND1, TMX2-CTNND1 (D50H)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 717097	NM_001085458.2(CTNND1):c.155A>G (p.Asn52Ser)	CTNND1, TMX2-CTNND1 (N52S)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2283095	NM_001085458.2(CTNND1):c.199G>C (p.Gly67Arg)	CTNND1, TMX2-CTNND1 (G67R +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3078665	NM_001085458.2(CTNND1):c.200G>A (p.Gly67Asp)	TMX2-CTNND1, CTNND1 (G13D +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2391342	NM_001085458.2(CTNND1):c.202C>T (p.Arg68Trp)	CTNND1, TMX2-CTNND1 (R68W +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3343114	NM_001085458.2(CTNND1):c.245A>T (p.Asp82Val)	CTNND1, TMX2-CTNND1 (D28V +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 722491	NM_001085458.2(CTNND1):c.257A>G (p.Asn86Ser)	CTNND1, TMX2-CTNND1 (N86S +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2293372	NM_001085458.2(CTNND1):c.308A>G (p.Gln103Arg)	CTNND1, TMX2-CTNND1 (Q49R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499248	NM_001085458.2(CTNND1):c.313C>T (p.Pro105Ser)	CTNND1, TMX2-CTNND1 (P105S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3046340	NM_001085458.2(CTNND1):c.322A>T (p.Ile108Phe)	CTNND1, TMX2-CTNND1 (I108F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely benign
Select item 1300290	NM_001085458.2(CTNND1):c.323T>C (p.Ile108Thr)	CTNND1, TMX2-CTNND1 (I108T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2531948	NM_001085458.2(CTNND1):c.331A>G (p.Thr111Ala)	CTNND1, TMX2-CTNND1 (T10A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057385	NM_001085458.2(CTNND1):c.337A>C (p.Thr113Pro)	CTNND1, TMX2-CTNND1 (T113P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely benign
Select item 2553211	NM_001085458.2(CTNND1):c.362T>C (p.Met121Thr)	CTNND1, TMX2-CTNND1 (M67T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358834	NM_001085458.2(CTNND1):c.406C>T (p.Arg136Cys)	TMX2-CTNND1, CTNND1 (R136C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494205	NM_001085458.2(CTNND1):c.407G>A (p.Arg136His)	CTNND1, TMX2-CTNND1 (R136H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1310487	NM_001085458.2(CTNND1):c.410C>T (p.Thr137Ile)	CTNND1, TMX2-CTNND1 (T137I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3078674	NM_001085458.2(CTNND1):c.419C>T (p.Thr140Met)	CTNND1, TMX2-CTNND1 (T39M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672467	NM_001085458.2(CTNND1):c.421G>A (p.Val141Ile)	TMX2-CTNND1, CTNND1 (V141I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3078675	NM_001085458.2(CTNND1):c.454A>G (p.Thr152Ala)	CTNND1, TMX2-CTNND1 (T98A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1236449	NM_001085458.2(CTNND1):c.483C>T (p.Asp161=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2 +1 more	GBenign
Select item 3078676	NM_001085458.2(CTNND1):c.484G>A (p.Gly162Arg)	CTNND1, TMX2-CTNND1 (G162R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412720	NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)	CTNND1, TMX2-CTNND1 (S115* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic
Select item 2370659	NM_001085458.2(CTNND1):c.511T>G (p.Ser171Ala)	CTNND1, TMX2-CTNND1 (S117A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078677	NM_001085458.2(CTNND1):c.542A>G (p.Asp181Gly)	CTNND1, TMX2-CTNND1 (D80G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078678	NM_001085458.2(CTNND1):c.548G>C (p.Arg183Pro)	CTNND1, TMX2-CTNND1 (R82P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446376	NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)	CTNND1, TMX2-CTNND1 (P136fs +2 more)	Duplication (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 2271616	NM_001085458.2(CTNND1):c.566G>T (p.Gly189Val)	CTNND1, TMX2-CTNND1 (G189V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407015	NM_001085458.2(CTNND1):c.598G>T (p.Ala200Ser)	CTNND1, TMX2-CTNND1 (A200S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 438817	NM_001085458.2(CTNND1):c.606del (p.Pro203fs)	CTNND1, TMX2-CTNND1 (P102fs +2 more)	Deletion (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 3270149	NM_001085458.2(CTNND1):c.628C>A (p.Pro210Thr)	CTNND1, TMX2-CTNND1 (P109T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531558	NM_001085458.2(CTNND1):c.643C>T (p.Arg215Cys)	CTNND1, TMX2-CTNND1 (R161C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479350	NM_001085458.2(CTNND1):c.643C>A (p.Arg215Ser)	CTNND1, TMX2-CTNND1 (R161S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388167	NM_001085458.2(CTNND1):c.654A>T (p.Glu218Asp)	CTNND1, TMX2-CTNND1 (E164D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270148	NM_001085458.2(CTNND1):c.700G>A (p.Val234Met)	CTNND1, TMX2-CTNND1 (V180M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362691	NM_001085458.2(CTNND1):c.719G>A (p.Arg240Gln)	CTNND1, TMX2-CTNND1 (R186Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778421	NM_001085458.2(CTNND1):c.738A>G (p.Glu246=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3078679	NM_001085458.2(CTNND1):c.746G>A (p.Arg249Gln)	CTNND1, TMX2-CTNND1 (R148Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078680	NM_001085458.2(CTNND1):c.749C>T (p.Ala250Val)	CTNND1, TMX2-CTNND1 (A196V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3343262	NM_001085458.2(CTNND1):c.815T>C (p.Leu272Pro)	CTNND1, TMX2-CTNND1 (L171P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3039502	NM_001085458.2(CTNND1):c.860G>A (p.Arg287His)	CTNND1, TMX2-CTNND1 (R186H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely benign
Select item 2663339	NM_001085458.2(CTNND1):c.865A>G (p.Met289Val)	CTNND1, TMX2-CTNND1 (M188V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2504230	NM_001085458.2(CTNND1):c.871T>A (p.Tyr291Asn)	CTNND1, TMX2-CTNND1 (Y190N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3270147	NM_001085458.2(CTNND1):c.897G>A (p.Met299Ile)	CTNND1, TMX2-CTNND1 (M245I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3345385	NM_001085458.2(CTNND1):c.904del (p.Tyr302fs)	CTNND1, TMX2-CTNND1 (Y201fs +2 more)	Deletion (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely pathogenic
Select item 3078681	NM_001085458.2(CTNND1):c.916C>T (p.Arg306Cys)	CTNND1, TMX2-CTNND1 (R252C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506698	NM_001085458.2(CTNND1):c.916C>G (p.Arg306Gly)	CTNND1, TMX2-CTNND1 (R205G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2374843	NM_001085458.2(CTNND1):c.917G>A (p.Arg306His)	CTNND1, TMX2-CTNND1 (R252H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 834013	NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs)	CTNND1, TMX2-CTNND1 (D313fs +2 more)	Deletion (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GPathogenic
Select item 3033143	NM_001085458.2(CTNND1):c.942T>A (p.Pro314=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely benign
Select item 2337790	NM_001085458.2(CTNND1):c.946C>T (p.Arg316Trp)	CTNND1, TMX2-CTNND1 (R215W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1279231	NM_001085458.2(CTNND1):c.956+132G>T	CTNND1, TMX2-CTNND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702545	NM_001085458.2(CTNND1):c.957-11A>G	CTNND1, TMX2-CTNND1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3078682	NM_001085458.2(CTNND1):c.958A>G (p.Ser320Gly)	CTNND1, TMX2-CTNND1 (S266G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 834012	NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter)	CTNND1, TMX2-CTNND1 (W235* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GPathogenic
Select item 1343238	NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter)	CTNND1, TMX2-CTNND1 (R243* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic
Select item 1702602	NM_001085458.2(CTNND1):c.1033G>A (p.Gly345Arg)	CTNND1, TMX2-CTNND1 (G244R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3239427	NM_001085458.2(CTNND1):c.1054A>G (p.Ser352Gly)	CTNND1, TMX2-CTNND1 (S251G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2663359	NM_001085458.2(CTNND1):c.1079C>T (p.Pro360Leu)	CTNND1, TMX2-CTNND1 (P259L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3058169	NM_001085458.2(CTNND1):c.1086T>C (p.Asn362=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely benign
Select item 523857	NM_001085458.2(CTNND1):c.1088G>A (p.Trp363Ter)	TMX2-CTNND1, CTNND1 (W363* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 438816	NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)	CTNND1, TMX2-CTNND1 (Q365* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 3033012	NM_001085458.2(CTNND1):c.1098dup (p.Glu367fs)	CTNND1, TMX2-CTNND1 (E266fs +2 more)	Duplication (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely pathogenic
Select item 2589417	NM_001085458.2(CTNND1):c.1105C>T (p.Pro369Ser)	CTNND1, TMX2-CTNND1 (P268S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3365137	NM_001085458.2(CTNND1):c.1132C>T (p.Arg378Cys)	CTNND1, TMX2-CTNND1 (R277C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3045818	NM_001085458.2(CTNND1):c.1152C>T (p.Ser384=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	CTNND1-related disorder	GLikely benign
Select item 2292749	NM_001085458.2(CTNND1):c.1154A>G (p.Asn385Ser)	CTNND1, TMX2-CTNND1 (N331S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1306850	NM_001085458.2(CTNND1):c.1180T>C (p.Cys394Arg)	CTNND1, TMX2-CTNND1 (C293R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2495226	NM_001085458.2(CTNND1):c.1186C>T (p.Arg396Cys)	CTNND1, TMX2-CTNND1 (R342C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1031069	NM_001085458.2(CTNND1):c.1186C>G (p.Arg396Gly)	CTNND1, TMX2-CTNND1 (R295G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GUncertain significance
Select item 3270150	NM_001085458.2(CTNND1):c.1195A>C (p.Lys399Gln)	CTNND1, TMX2-CTNND1 (K399Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641797	NM_001085458.2(CTNND1):c.1209C>T (p.Asp403=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3078661	NM_001085458.2(CTNND1):c.1269A>T (p.Glu423Asp)	CTNND1, TMX2-CTNND1 (E322D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525868	NM_001085458.2(CTNND1):c.1315C>T (p.Arg439Cys)	CTNND1, TMX2-CTNND1 (R338C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3343352	NM_001085458.2(CTNND1):c.1340T>C (p.Ile447Thr)	CTNND1, TMX2-CTNND1 (I346T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3270145	NM_001085458.2(CTNND1):c.1363G>T (p.Ala455Ser)	CTNND1, TMX2-CTNND1 (A455S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1693333	NM_001085458.2(CTNND1):c.1370T>C (p.Val457Ala)	CTNND1, TMX2-CTNND1 (V356A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2505972	NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)	CTNND1, TMX2-CTNND1 (R360* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 786193	NM_001085458.2(CTNND1):c.1390C>T (p.Arg464Cys)	CTNND1, TMX2-CTNND1 (R410C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3270144	NM_001085458.2(CTNND1):c.1391G>A (p.Arg464His)	CTNND1, TMX2-CTNND1 (R363H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579584	NM_001085458.2(CTNND1):c.1418C>A (p.Thr473Asn)	CTNND1, TMX2-CTNND1 (T372N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1286259	NM_001085458.2(CTNND1):c.1420+160A>T	CTNND1, TMX2-CTNND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2445878	NM_001085458.2(CTNND1):c.1423A>G (p.Thr475Ala)	CTNND1, TMX2-CTNND1 (T374A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1801206	NM_001085458.2(CTNND1):c.1451C>G (p.Ser484Ter)	CTNND1, TMX2-CTNND1 (S383* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2309098	NM_001085458.2(CTNND1):c.1487C>G (p.Ala496Gly)	CTNND1, TMX2-CTNND1 (A395G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 834015	NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly)	CTNND1, TMX2-CTNND1 (D398G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 2430502	NM_001085458.2(CTNND1):c.1513C>T (p.His505Tyr)	CTNND1, TMX2-CTNND1 (H404Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 724638	NM_001085458.2(CTNND1):c.1537A>G (p.Asn513Asp)	CTNND1, TMX2-CTNND1 (N412D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1307707	NM_001085458.2(CTNND1):c.1600C>G (p.Leu534Val)	CTNND1, TMX2-CTNND1 (L433V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 834016	NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe)	CTNND1, TMX2-CTNND1 (L558F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 931457	NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)	CTNND1, TMX2-CTNND1 (Q509* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Blepharocheilodontic syndrome 2	GLikely pathogenic

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