"CTNNA3-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696072	NM_013266.4(CTNNA3):c.2378G>A (p.Gly793Glu)	CTNNA3 (G793E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GLikely benign
Select item 3061140	NM_013266.4(CTNNA3):c.2332C>T (p.Gln778Ter)	CTNNA3 (Q778*)	Single nucleotide variant (nonsense)	CTNNA3-related condition	GUncertain significance
Select item 2632697	NM_013266.4(CTNNA3):c.2248C>G (p.Arg750Gly)	CTNNA3 (R750G)	Single nucleotide variant (missense variant)	CTNNA3-related condition +1 more	GUncertain significance
Select item 1593069	NM_013266.4(CTNNA3):c.2205G>A (p.Ala735=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GLikely benign
Select item 936080	NM_013266.4(CTNNA3):c.2098G>A (p.Asp700Asn)	CTNNA3 (D700N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GUncertain significance
Select item 695631	NM_013266.4(CTNNA3):c.1936C>T (p.Arg646Cys)	CTNNA3 (R646C)	Single nucleotide variant (missense variant)	CTNNA3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2631177	NM_013266.4(CTNNA3):c.1910C>T (p.Ser637Phe)	CTNNA3 (S637F)	Single nucleotide variant (missense variant)	CTNNA3-related condition	GUncertain significance
Select item 415374	NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met)	CTNNA3 (T552M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +3 more	GBenign/Likely benign
Select item 415361	NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)	CTNNA3 (T485S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 220977	NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val)	CTNNA3 (M435V)	Single nucleotide variant (missense variant)	CTNNA3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 862873	NM_013266.4(CTNNA3):c.1128+2T>C	CTNNA3	Single nucleotide variant (splice donor variant)	CTNNA3-related condition +1 more	GUncertain significance
Select item 409010	NM_013266.4(CTNNA3):c.999C>A (p.Asn333Lys)	CTNNA3 (N333K +1 more)	Single nucleotide variant (missense variant)	CTNNA3-related condition +1 more	GUncertain significance
Select item 240874	NM_013266.4(CTNNA3):c.580-8C>T	CTNNA3	Single nucleotide variant (intron variant)	CTNNA3-related condition +3 more	GBenign/Likely benign
Select item 415377	NM_013266.4(CTNNA3):c.483C>T (p.Leu161=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1402202	NM_013266.4(CTNNA3):c.425T>C (p.Ile142Thr)	CTNNA3 (I142T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GUncertain significance
Select item 415366	NM_013266.4(CTNNA3):c.264G>A (p.Thr88=)	CTNNA3	Single nucleotide variant (synonymous variant)	CTNNA3-related condition +2 more	GLikely benign
Select item 3045554	NM_013266.4(CTNNA3):c.-5-1214A>C	CTNNA3	Single nucleotide variant (intron variant)	CTNNA3-related condition	GLikely benign