"Ambry Genetics"[submitter] AND "CTNND1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2355849	NM_001085458.2(CTNND1):c.28G>C (p.Ala10Pro)	TMX2-CTNND1, CTNND1 (A10P)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	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 2283095	NM_001085458.2(CTNND1):c.199G>C (p.Gly67Arg)	TMX2-CTNND1, CTNND1 (G67R +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 +1 more	GConflicting classifications of pathogenicity
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 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 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)	CTNND1, TMX2-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 2370659	NM_001085458.2(CTNND1):c.511T>G (p.Ser171Ala)	TMX2-CTNND1, CTNND1 (S117A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 (non-coding transcript 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 (missense 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 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 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 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 2292749	NM_001085458.2(CTNND1):c.1154A>G (p.Asn385Ser)	TMX2-CTNND1, CTNND1 (N331S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 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 2309098	NM_001085458.2(CTNND1):c.1487C>G (p.Ala496Gly)	TMX2-CTNND1, CTNND1 (A395G +2 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 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 2213984	NM_001085458.2(CTNND1):c.1774C>T (p.Arg592Trp)	CTNND1, TMX2-CTNND1 (R491W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 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 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 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)	Blepharocheilodontic syndrome 2 +1 more	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 2206619	NM_001085458.2(CTNND1):c.1891A>G (p.Arg631Gly)	CTNND1, TMX2-CTNND1 (R530G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2241751	NM_001085458.2(CTNND1):c.1903C>T (p.Pro635Ser)	CTNND1, TMX2-CTNND1 (P575S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174825	NM_001085458.2(CTNND1):c.1949C>T (p.Thr650Met)	CTNND1, TMX2-CTNND1 (T543M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305749	NM_001085458.2(CTNND1):c.1954C>G (p.Pro652Ala)	TMX2-CTNND1, CTNND1 (P545A +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 2622234	NM_001085458.2(CTNND1):c.1983G>T (p.Gln661His)	CTNND1, TMX2-CTNND1 (Q601H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402934	NM_001085458.2(CTNND1):c.2120G>A (p.Arg707His)	TMX2-CTNND1, CTNND1 (R647H +5 more)	Single nucleotide variant (non-coding transcript variant +1 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 1050370	NM_001085458.2(CTNND1):c.2224C>T (p.Arg742Cys)	CTNND1, TMX2-CTNND1 (R635C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283840	NM_001085458.2(CTNND1):c.2278C>T (p.Pro760Ser)	CTNND1, TMX2-CTNND1 (P653S +5 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 2341411	NM_001085458.2(CTNND1):c.2399A>G (p.Gln800Arg)	CTNND1, TMX2-CTNND1 (Q746R +5 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 1313871	NM_001085458.2(CTNND1):c.2714C>A (p.Ser905Tyr)	CTNND1, TMX2-CTNND1 (S777Y +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	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 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 2301966	NM_001085458.2(CTNND1):c.2845G>T (p.Asp949Tyr)	TMX2-CTNND1, CTNND1 (D842Y +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48