"Clinical Genetics, Academic Medical Center"[submitter] AND "CTNNA3"[g - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 409025	NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs)	CTNNA3 (I880fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 696222	NM_013266.4(CTNNA3):c.2601G>A (p.Thr867=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GBenign/Likely benign
Select item 240869	NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 1284711	NM_013266.4(CTNNA3):c.2401-23dup	CTNNA3	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 13	GBenign
Select item 516743	NM_013266.4(CTNNA3):c.2266-10T>G	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GBenign
Select item 474823	NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 474822	NM_013266.4(CTNNA3):c.2158A>C (p.Arg720=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 474821	NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 1284604	NM_013266.4(CTNNA3):c.2129T>C (p.Met710Thr)	CTNNA3 (M710T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284555	NM_013266.4(CTNNA3):c.2104A>G (p.Ile702Val)	CTNNA3 (I702V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006879	NM_013266.4(CTNNA3):c.2066C>T (p.Ala689Val)	CTNNA3 (A689V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 409014	NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val)	CTNNA3 (A660V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GUncertain significance
Select item 415369	NM_013266.4(CTNNA3):c.1929C>T (p.His643=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 415368	NM_013266.4(CTNNA3):c.1872C>A (p.Val624=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1087386	NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GLikely benign
Select item 1169338	NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn)	CTNNA3 (S596N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1136612	NM_013266.4(CTNNA3):c.1732+8A>G	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 415374	NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met)	CTNNA3 (T552M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 843616	NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln)	CTNNA3 (R543Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 240864	NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys)	CTNNA3 (R535C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 714456	NM_013266.4(CTNNA3):c.1588G>T (p.Ala530Ser)	CTNNA3 (A530S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GBenign
Select item 714482	NM_013266.4(CTNNA3):c.1587T>A (p.Asp529Glu)	CTNNA3 (D529E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GBenign
Select item 1284061	NM_013266.4(CTNNA3):c.1531+16T>C	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign
Select item 415361	NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)	CTNNA3 (T485S)	Single nucleotide variant (missense variant)	CTNNA3-related disorder +2 more	GBenign/Likely benign
Select item 1175061	NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 415371	NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile)	CTNNA3 (L399I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GBenign/Likely benign
Select item 415363	NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His)	CTNNA3 (R378H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 240863	NM_013266.4(CTNNA3):c.1047C>T (p.Asn349=)	CTNNA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1284390	NM_013266.4(CTNNA3):c.1006C>A (p.Arg336Ser)	CTNNA3 (R336S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 956869	NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter)	CTNNA3 (R297* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1174946	NM_013266.4(CTNNA3):c.844-15G>A	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13	GBenign
Select item 1281398	NM_013266.4(CTNNA3):c.843+17A>G	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign
Select item 857097	NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn)	CTNNA3 (D278N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1091670	NM_013266.4(CTNNA3):c.718A>G (p.Thr240Ala)	CTNNA3 (T240A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 240874	NM_013266.4(CTNNA3):c.580-8C>T	CTNNA3	Single nucleotide variant (intron variant)	CTNNA3-related disorder +3 more	GBenign/Likely benign
Select item 1248579	NM_013266.4(CTNNA3):c.579+15T>G	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign
Select item 415377	NM_013266.4(CTNNA3):c.483C>T (p.Leu161=)	CTNNA3	Single nucleotide variant (synonymous variant)	CTNNA3-related disorder +3 more	GBenign/Likely benign
Select item 240872	NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr)	CTNNA3 (S160T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 516745	NM_013266.4(CTNNA3):c.460-13T>C	CTNNA3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1284821	NM_013266.4(CTNNA3):c.451G>T (p.Val151Leu)	CTNNA3 (V151L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 415375	NM_013266.4(CTNNA3):c.429T>C (p.Asp143=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 240871	NM_013266.4(CTNNA3):c.399G>A (p.Thr133=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 415373	NM_013266.4(CTNNA3):c.393G>A (p.Ala131=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 695707	NM_013266.4(CTNNA3):c.387G>A (p.Leu129=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 220770	NM_013266.4(CTNNA3):c.348A>C (p.Pro116=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 516744	NM_013266.4(CTNNA3):c.293-19A>T	CTNNA3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 516742	NM_013266.4(CTNNA3):c.292+13A>G	CTNNA3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1284665	NM_013266.4(CTNNA3):c.99+11C>T	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GBenign
Select item 240870	NM_013266.4(CTNNA3):c.33C>T (p.Ile11=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 695556	NM_013266.4(CTNNA3):c.18A>T (p.Pro6=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GLikely benign

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Items: 50