CTNNA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ANKHD1, ANKHD1-DT +224 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 1292329	NC_000005.10:g.138753397G>A	CTNNA1, CTNNA1-AS1	Single nucleotide variant	not provided	GBenign
Select item 223743	NM_001903.5(CTNNA1):c.-3+31G>C	CTNNA1, CTNNA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1186093	NM_001903.5(CTNNA1):c.-3+216G>A	CTNNA1, CTNNA1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 223736	NM_001903.5(CTNNA1):c.-3+323G>A	CTNNA1, CTNNA1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223753	NM_001903.5(CTNNA1):c.-3+439T>C	CTNNA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223774	NM_001903.5(CTNNA1):c.-3+549A>C	CTNNA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223726	NM_001903.5(CTNNA1):c.-3+8865C>T	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223728	NM_001903.5(CTNNA1):c.-3+9131G>T	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223781	NM_001903.5(CTNNA1):c.-3+10127C>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223754	NM_001903.5(CTNNA1):c.-2-11654G>A	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223747	NM_001903.5(CTNNA1):c.-2-10058A>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223715	NM_001903.5(CTNNA1):c.-2-9674A>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223757	NM_001903.5(CTNNA1):c.-2-9524C>T	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223701	NM_001903.5(CTNNA1):c.-2-9465T>C	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223707	NM_001903.5(CTNNA1):c.-2-9414C>T	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223711	NM_001903.5(CTNNA1):c.-2-9363A>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223709	NM_001903.5(CTNNA1):c.-2-9347A>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223737	NM_001903.5(CTNNA1):c.-2-6669C>T	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1801390	NM_001903.5(CTNNA1):c.-2-5766_-2-5573del	CTNNA1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 223756	NM_001903.5(CTNNA1):c.-2-908C>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223695	NM_001903.5(CTNNA1):c.-2-903A>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223773	NM_001903.5(CTNNA1):c.-2-771C>G	CTNNA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 646392	NC_000005.10:g.(?_138781915)_(138934099_?)del	CTNNA1, LOC129994750 +1 more	Deletion	not provided	GUncertain significance
Select item 641002	NC_000005.9:g.(?_138117604)_(138269788_?)dup	CTNNA1, LOC129994750 +1 more	Duplication	not provided	GUncertain significance
Select item 640988	NC_000005.9:g.(?_138117604)_(138145903_?)dup	CTNNA1, LOC129994750	Duplication	not provided	GUncertain significance
Select item 2732746	NM_001903.5(CTNNA1):c.1A>G (p.Met1Val)	CTNNA1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1049135	NM_001903.5(CTNNA1):c.2T>C (p.Met1Thr)	CTNNA1 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1054328	NM_001903.5(CTNNA1):c.4A>G (p.Thr2Ala)	CTNNA1 (T2A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1577908	NM_001903.5(CTNNA1):c.6T>G (p.Thr2=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1501092	NM_001903.5(CTNNA1):c.8C>T (p.Ala3Val)	CTNNA1 (A3V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1448403	NM_001903.5(CTNNA1):c.8C>G (p.Ala3Gly)	CTNNA1 (A3G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1768944	NM_001903.5(CTNNA1):c.9T>A (p.Ala3=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1792062	NM_001903.5(CTNNA1):c.10G>A (p.Val4Ile)	CTNNA1 (V4I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1467175	NM_001903.5(CTNNA1):c.10G>C (p.Val4Leu)	CTNNA1 (V4L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1769348	NM_001903.5(CTNNA1):c.12C>T (p.Val4=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 840216	NM_001903.5(CTNNA1):c.13C>T (p.His5Tyr)	CTNNA1 (H5Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 819390	NM_001903.5(CTNNA1):c.14A>G (p.His5Arg)	CTNNA1 (H5R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 763870	NM_001903.5(CTNNA1):c.15T>C (p.His5=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 819871	NM_001903.5(CTNNA1):c.16G>A (p.Ala6Thr)	CTNNA1 (A6T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2744358	NM_001903.5(CTNNA1):c.17C>T (p.Ala6Val)	CTNNA1 (A6V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416760	NM_001903.5(CTNNA1):c.18A>G (p.Ala6=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1026292	NM_001903.5(CTNNA1):c.20G>A (p.Gly7Asp)	CTNNA1 (G7D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 655933	NM_001903.5(CTNNA1):c.23A>G (p.Asn8Ser)	CTNNA1 (N8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1105845	NM_001903.5(CTNNA1):c.24C>T (p.Asn8=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 647986	NM_001903.5(CTNNA1):c.25A>G (p.Ile9Val)	CTNNA1 (I9V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1004810	NM_001903.5(CTNNA1):c.26T>C (p.Ile9Thr)	CTNNA1 (I9T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2813701	NM_001903.5(CTNNA1):c.33dup (p.Lys12fs)	CTNNA1 (K12fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2695022	NM_001903.5(CTNNA1):c.33C>A (p.Phe11Leu)	CTNNA1 (F11L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1732038	NM_001903.5(CTNNA1):c.34A>G (p.Lys12Glu)	CTNNA1 (K12E)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1375250	NM_001903.5(CTNNA1):c.35A>G (p.Lys12Arg)	CTNNA1 (K12R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2125358	NM_001903.5(CTNNA1):c.36G>C (p.Lys12Asn)	CTNNA1 (K12N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1734076	NM_001903.5(CTNNA1):c.36G>A (p.Lys12=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1735059	NM_001903.5(CTNNA1):c.37T>C (p.Trp13Arg)	CTNNA1 (W13R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1363962	NM_001903.5(CTNNA1):c.37T>G (p.Trp13Gly)	CTNNA1 (W13G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1357721	NM_001903.5(CTNNA1):c.37T>A (p.Trp13Arg)	CTNNA1 (W13R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 652689	NM_001903.5(CTNNA1):c.38G>T (p.Trp13Leu)	CTNNA1 (W13L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2673339	NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)	CTNNA1 (W13*)	Single nucleotide variant (nonsense +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2801259	NM_001903.5(CTNNA1):c.40G>C (p.Asp14His)	CTNNA1 (D14H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 845223	NM_001903.5(CTNNA1):c.43C>T (p.Pro15Ser)	CTNNA1 (P15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1006597	NM_001903.5(CTNNA1):c.44C>T (p.Pro15Leu)	CTNNA1 (P15L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 854830	NM_001903.5(CTNNA1):c.44C>G (p.Pro15Arg)	CTNNA1 (P15R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043236	NM_001903.5(CTNNA1):c.46A>G (p.Lys16Glu)	CTNNA1 (K16E)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1714255	NM_001903.5(CTNNA1):c.47A>G (p.Lys16Arg)	CTNNA1 (K16R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 952509	NM_001903.5(CTNNA1):c.47A>C (p.Lys16Thr)	CTNNA1 (K16T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1557021	NM_001903.5(CTNNA1):c.48A>G (p.Lys16=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 949427	NM_001903.5(CTNNA1):c.52C>G (p.Leu18Val)	CTNNA1 (L18V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 841513	NM_001903.5(CTNNA1):c.53_54dup (p.Glu19Ter)	CTNNA1 (E19*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 1059063	NM_001903.5(CTNNA1):c.53T>C (p.Leu18Pro)	CTNNA1 (L18P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1084411	NM_001903.5(CTNNA1):c.54A>G (p.Leu18=)	CTNNA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1354560	NM_001903.5(CTNNA1):c.55G>C (p.Glu19Gln)	CTNNA1 (E19Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1749140	NM_001903.5(CTNNA1):c.56A>C (p.Glu19Ala)	CTNNA1 (E19A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 660586	NM_001903.5(CTNNA1):c.56A>G (p.Glu19Gly)	CTNNA1 (E19G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1156675	NM_001903.5(CTNNA1):c.57G>A (p.Glu19=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1044838	NM_001903.5(CTNNA1):c.57G>C (p.Glu19Asp)	CTNNA1 (E19D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2070742	NM_001903.5(CTNNA1):c.58A>G (p.Ile20Val)	CTNNA1 (I20V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 665290	NM_001903.5(CTNNA1):c.58A>T (p.Ile20Phe)	CTNNA1 (I20F)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 2900212	NM_001903.5(CTNNA1):c.60C>G (p.Ile20Met)	CTNNA1 (I20M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1753321	NM_001903.5(CTNNA1):c.63G>C (p.Arg21Ser)	CTNNA1 (R21S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1085369	NM_001903.5(CTNNA1):c.63G>A (p.Arg21=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1394021	NM_001903.5(CTNNA1):c.65C>T (p.Thr22Ile)	CTNNA1 (T22I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1020893	NM_001903.5(CTNNA1):c.65C>G (p.Thr22Ser)	CTNNA1 (T22S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1143606	NM_001903.5(CTNNA1):c.66T>C (p.Thr22=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1425345	NM_001903.5(CTNNA1):c.68dup (p.Ala24fs)	CTNNA1 (A24fs)	Duplication (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 1131309	NM_001903.5(CTNNA1):c.67C>T (p.Leu23=)	CTNNA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2755727	NM_001903.5(CTNNA1):c.68T>C (p.Leu23Pro)	CTNNA1 (L23P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1054487	NM_001903.5(CTNNA1):c.68T>A (p.Leu23Gln)	CTNNA1 (L23Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1757180	NM_001903.5(CTNNA1):c.70G>T (p.Ala24Ser)	CTNNA1 (A24S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1061241	NM_001903.5(CTNNA1):c.71C>T (p.Ala24Val)	CTNNA1 (A24V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 837867	NM_001903.5(CTNNA1):c.71C>A (p.Ala24Glu)	CTNNA1 (A24E)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 850761	NM_001903.5(CTNNA1):c.74T>C (p.Val25Ala)	CTNNA1 (V25A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2448336	NM_001903.5(CTNNA1):c.76G>A (p.Glu26Lys)	CTNNA1 (E26K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1361728	NM_001903.5(CTNNA1):c.77A>G (p.Glu26Gly)	CTNNA1 (E26G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1475893	NM_001903.5(CTNNA1):c.80G>A (p.Arg27Lys)	CTNNA1 (R27K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2755711	NM_001903.5(CTNNA1):c.81_82insGTCCTCTGG (p.Arg27_Leu28insValLeuTrp)	CTNNA1	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance

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