ClinVar for Gene (Select 1500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3254974	NM_001085458.2(CTNND1):c.2550+1G>A	CTNND1, TMX2-CTNND1	Single nucleotide variant (splice donor variant)	Blepharocheilodontic syndrome 2	GPathogenic
Select item 3254542	NM_001085458.2(CTNND1):c.1889C>T (p.Ser630Phe)	CTNND1, TMX2-CTNND1 (S529F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Blepharocheilodontic syndrome 2	GUncertain significance
Select item 3252750	NM_001085458.2(CTNND1):c.2104A>T (p.Ile702Phe)	CTNND1, TMX2-CTNND1 (I595F +5 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 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 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 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 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 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 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 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 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 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 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 3078672	NM_001085458.2(CTNND1):c.2686A>G (p.Asn896Asp)	CTNND1, TMX2-CTNND1 (N890D +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3078671	NM_001085458.2(CTNND1):c.2653C>T (p.Arg885Trp)	CTNND1, TMX2-CTNND1 (R778W +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3078670	NM_001085458.2(CTNND1):c.2506C>T (p.Arg836Trp)	CTNND1, TMX2-CTNND1 (R729W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078669	NM_001085458.2(CTNND1):c.2344A>G (p.Ile782Val)	CTNND1, TMX2-CTNND1 (I681V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 3078667	NM_001085458.2(CTNND1):c.2254A>G (p.Ile752Val)	TMX2-CTNND1, CTNND1 (I698V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078666	NM_001085458.2(CTNND1):c.2141C>T (p.Ala714Val)	TMX2-CTNND1, CTNND1 (A613V +5 more)	Single nucleotide variant (non-coding transcript variant +1 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 3078664	NM_001085458.2(CTNND1):c.1967A>G (p.Tyr656Cys)	CTNND1, TMX2-CTNND1 (Y596C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078663	NM_001085458.2(CTNND1):c.1926T>A (p.Asp642Glu)	CTNND1, TMX2-CTNND1 (D636E +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3059303	NM_001085458.2(CTNND1):c.2702-7dup	CTNND1, TMX2-CTNND1	Duplication (intron variant)	CTNND1-related disorder	GLikely benign
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 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 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 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 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 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 3035747	NM_001085458.2(CTNND1):c.2435+6C>G	CTNND1, TMX2-CTNND1	Single nucleotide variant (intron variant)	CTNND1-related disorder	GLikely benign
Select item 3033813	NM_001085458.2(CTNND1):c.2808+1G>C	CTNND1, TMX2-CTNND1	Single nucleotide variant (splice donor variant)	CTNND1-related disorder	GUncertain significance
Select item 3033492	NM_001085458.2(CTNND1):c.2173C>T (p.Arg725Trp)	CTNND1, TMX2-CTNND1 (R618W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CTNND1-related disorder	GBenign
Select item 3033404	NM_001085458.2(CTNND1):c.2092-7A>G	CTNND1, TMX2-CTNND1	Single nucleotide variant (intron variant)	CTNND1-related disorder	GLikely benign
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 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 2672467	NM_001085458.2(CTNND1):c.421G>A (p.Val141Ile)	TMX2-CTNND1, CTNND1 (V141I +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 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 2641800	NM_001085458.2(CTNND1):c.2631A>G (p.Gln877=)	CTNND1, TMX2-CTNND1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641799	NM_001085458.2(CTNND1):c.2522AAG[1] (p.Glu842del)	CTNND1, TMX2-CTNND1 (E735del +5 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2641798	NM_001085458.2(CTNND1):c.2107C>T (p.Arg703Cys)	CTNND1, TMX2-CTNND1 (R596C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 +1 more	GLikely benign
Select item 2622234	NM_001085458.2(CTNND1):c.1983G>T (p.Gln661His)	CTNND1, TMX2-CTNND1 (Q601H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621919	NM_001085458.2(CTNND1):c.1697T>C (p.Ile566Thr)	CTNND1, TMX2-CTNND1 (I465T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613151	NM_001085458.2(CTNND1):c.2390G>A (p.Arg797Gln)	CTNND1, TMX2-CTNND1 (R696Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607352	NM_001085458.2(CTNND1):c.1961G>A (p.Arg654Gln)	CTNND1, TMX2-CTNND1 (R547Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599112	NM_001085458.2(CTNND1):c.1714G>C (p.Asp572His)	CTNND1, TMX2-CTNND1 (D518H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2576651	NM_001085458.2(CTNND1):c.1751G>A (p.Arg584Gln)	CTNND1, TMX2-CTNND1 (R483Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574221	NM_001085458.2(CTNND1):c.2144T>G (p.Ile715Arg)	CTNND1, TMX2-CTNND1 (I608R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2551832	NM_001085458.2(CTNND1):c.1817A>G (p.Asn606Ser)	CTNND1, TMX2-CTNND1 (N606S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2551168	NM_001085458.2(CTNND1):c.2776A>C (p.Met926Leu)	CTNND1, TMX2-CTNND1 (M866L +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549134	NM_001085458.2(CTNND1):c.1878T>G (p.Asp626Glu)	CTNND1, TMX2-CTNND1 (D525E +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547537	NM_001085458.2(CTNND1):c.2213C>T (p.Ala738Val)	CTNND1, TMX2-CTNND1 (A631V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541896	NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)	CTNND1, TMX2-CTNND1 (P559S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2541472	NM_001085458.2(CTNND1):c.1798T>A (p.Tyr600Asn)	CTNND1, TMX2-CTNND1 (Y546N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 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 2529082	NM_001085458.2(CTNND1):c.2741A>G (p.Asn914Ser)	CTNND1, TMX2-CTNND1 (N807S +8 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 2516656	NM_001085458.2(CTNND1):c.2474T>C (p.Val825Ala)	CTNND1, TMX2-CTNND1 (V771A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511379	NM_001085458.2(CTNND1):c.1802A>G (p.Gln601Arg)	CTNND1, TMX2-CTNND1 (Q547R +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 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 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 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 2503231	NM_001085458.2(CTNND1):c.2427C>A (p.Asn809Lys)	CTNND1, TMX2-CTNND1 (N702K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2503220	NM_001085458.2(CTNND1):c.2594A>G (p.Tyr865Cys)	CTNND1, TMX2-CTNND1 (Y758C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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 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 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 2446625	NM_001085458.2(CTNND1):c.2528G>A (p.Gly843Glu)	CTNND1, TMX2-CTNND1 (G736E +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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 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 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 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 2402934	NM_001085458.2(CTNND1):c.2120G>A (p.Arg707His)	CTNND1, TMX2-CTNND1 (R647H +5 more)	Single nucleotide variant (non-coding transcript variant +1 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 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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

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