2514[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 1208631	NM_001904.4(CTNNB1):c.-48-279C>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204525	NM_001904.4(CTNNB1):c.-48-183T>A	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199102	NM_001904.4(CTNNB1):c.-48-3del	CTNNB1	Deletion (intron variant)	not provided	GLikely benign
Select item 3052758	NM_001904.4(CTNNB1):c.-9G>C	CTNNB1	Single nucleotide variant (5 prime UTR variant)	CTNNB1-related disorder	GLikely benign
Select item 1199189	NM_001904.4(CTNNB1):c.1A>G (p.Met1Val)	CTNNB1 (M1V)	Single nucleotide variant (missense variant +2 more)	CTNNB1-related syndromic intellectual disability	GUncertain significance
Select item 1362552	NM_001904.4(CTNNB1):c.5C>G (p.Ala2Gly)	CTNNB1 (A2G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1610208	NM_001904.4(CTNNB1):c.13+11T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841324	NM_001904.4(CTNNB1):c.13+14A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717980	NM_001904.4(CTNNB1):c.13+19T>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910748	NM_001904.4(CTNNB1):c.13+20T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630657	NM_001904.4(CTNNB1):c.14-18A>T	CTNNB1, LOC126806658	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935666	NM_001904.4(CTNNB1):c.14-11C>T	CTNNB1, LOC126806658	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191640	NM_001904.4(CTNNB1):c.14-10G>A	LOC126806658, CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934424	NM_001904.4(CTNNB1):c.14-5_14-3dup	CTNNB1, LOC126806658	Duplication (intron variant)	not provided	GLikely benign
Select item 128866	NM_001904.4(CTNNB1):c.14-4A>G	CTNNB1, LOC126806658	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 1522381	NM_001904.4(CTNNB1):c.14C>G (p.Ala5Gly)	CTNNB1, LOC126806658 (A5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1552850	NM_001904.4(CTNNB1):c.15T>C (p.Ala5=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 562026	NM_001904.4(CTNNB1):c.23T>C (p.Met8Thr)	CTNNB1, LOC126806658 (M8T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 2101198	NM_001904.4(CTNNB1):c.27G>T (p.Glu9Asp)	CTNNB1, LOC126806658 (E9D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558155	NM_001904.4(CTNNB1):c.27G>A (p.Glu9=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376223	NM_001904.4(CTNNB1):c.37G>A (p.Ala13Thr)	CTNNB1, LOC126806658 (A13T +1 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 444598	NM_001904.4(CTNNB1):c.40A>G (p.Met14Val)	CTNNB1, LOC126806658 (M14V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115698	NM_001904.4(CTNNB1):c.41T>C (p.Met14Thr)	CTNNB1, LOC126806658 (M14T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635460	NM_001904.4(CTNNB1):c.43G>A (p.Glu15Lys)	CTNNB1, LOC126806658 (E15K +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GUncertain significance
Select item 133952	NM_001904.4(CTNNB1):c.45A>C (p.Glu15Asp)	LOC126806658, CTNNB1 (E15D +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2903966	NM_001904.4(CTNNB1):c.54A>G (p.Arg18=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346762	NM_001904.4(CTNNB1):c.59C>T (p.Ala20Val)	CTNNB1, LOC126806658 (A20V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1977003	NM_001904.4(CTNNB1):c.60G>A (p.Ala20=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376224	NM_001904.4(CTNNB1):c.61G>A (p.Ala21Thr)	CTNNB1, LOC126806658 (A21T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376225	NM_001904.4(CTNNB1):c.65_115del (p.Val22_Gly38del)	CTNNB1, LOC126806658	Deletion (inframe_deletion)	Melanoma	GLikely pathogenic
Select item 376226	NM_001904.4(CTNNB1):c.65T>C (p.Val22Ala)	CTNNB1, LOC126806658 (V22A +1 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 1072445	NM_001904.4(CTNNB1):c.67dup (p.Ser23fs)	CTNNB1, LOC126806658 (S16fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2653693	NM_001904.4(CTNNB1):c.67A>G (p.Ser23Gly)	CTNNB1, LOC126806658 (S16G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3258045	NM_001904.4(CTNNB1):c.71_109del (p.His24_Ser37delinsPro)	CTNNB1, LOC126806658	Deletion (inframe_indel)	Neoplasm	OUncertain significance
Select item 2120980	NM_001904.4(CTNNB1):c.71A>T (p.His24Leu)	CTNNB1, LOC126806658 (H17L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376227	NM_001904.4(CTNNB1):c.74_97del (p.Trp25_Asp32del)	CTNNB1, LOC126806658	Deletion (inframe_deletion)	Melanoma	GLikely pathogenic
Select item 2757367	NM_001904.4(CTNNB1):c.77A>G (p.Gln26Arg)	CTNNB1, LOC126806658 (Q26R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879838	NM_001904.4(CTNNB1):c.81dup (p.Gln28fs)	CTNNB1, LOC126806658 (Q21fs +1 more)	Duplication (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1203312	NM_001904.4(CTNNB1):c.81A>G (p.Gln27=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 438756	NM_001904.4(CTNNB1):c.84_95del (p.Gln28_Asp32delinsHis)	CTNNB1, LOC126806658	Deletion (inframe_indel)	Hepatoblastoma	Gother
Select item 1718025	NM_001904.4(CTNNB1):c.84G>T (p.Gln28His)	CTNNB1, LOC126806658 (Q21H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340441	NM_001904.4(CTNNB1):c.88_111del (p.Tyr30_Ser37del)	CTNNB1, LOC126806658	Deletion (inframe_deletion)	Juvenile nasopharyngeal angiofibroma	GLikely pathogenic
Select item 2653694	NM_001904.4(CTNNB1):c.86C>G (p.Ser29Cys)	CTNNB1, LOC126806658 (S22C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376228	NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)	CTNNB1, LOC126806658 (D32N +1 more)	Single nucleotide variant (missense variant)	Juvenile nasopharyngeal angiofibroma	GPathogenic
Select item 376054	NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)	CTNNB1, LOC126806658 (D32H +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 17581	NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)	CTNNB1, LOC126806658 (D32Y +1 more)	Single nucleotide variant (missense variant)	Craniopharyngioma +11 more	GPathogenic/Likely pathogenic; other OOncogenic
Select item 376230	NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)	CTNNB1, LOC126806658 (D32V +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +8 more	GLikely pathogenic
Select item 376229	NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)	CTNNB1, LOC126806658 (D32A +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 17578	NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)	CTNNB1, LOC126806658 (D32G +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +10 more	GPathogenic/Likely pathogenic
Select item 376393	NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)	CTNNB1, LOC126806658 (S33T +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +10 more	GLikely pathogenic
Select item 376392	NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)	CTNNB1, LOC126806658 (S33A +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +10 more	GLikely pathogenic
Select item 376391	NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)	CTNNB1, LOC126806658 (S33P +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +10 more	GLikely pathogenic
Select item 376231	NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)	CTNNB1, LOC126806658 (S33C +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +14 more	GLikely pathogenic; other OOncogenic
Select item 17583	NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)	CTNNB1, LOC126806658 (S33F +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +13 more	GPathogenic/Likely pathogenic; other
Select item 17577	NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)	CTNNB1, LOC126806658 (S33Y +1 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +13 more	GPathogenic/Likely pathogenic
Select item 376233	NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)	CTNNB1, LOC126806658 (G34R +1 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376232	NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)	CTNNB1, LOC126806658 (G34R +1 more)	Single nucleotide variant (missense variant)	Pilomatrixoma +2 more	GPathogenic/Likely pathogenic
Select item 376390	NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)	CTNNB1, LOC126806658 (G34A +1 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +7 more	GLikely pathogenic
Select item 17584	NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)	CTNNB1, LOC126806658 (G34E +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +9 more	GPathogenic/Likely pathogenic; other
Select item 17582	NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)	CTNNB1, LOC126806658 (G34V +1 more)	Single nucleotide variant (missense variant)	Hepatoblastoma +11 more	GConflicting classifications of pathogenicity
Select item 1632546	NM_001904.4(CTNNB1):c.102A>G (p.Gly34=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376235	NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)	CTNNB1, LOC126806658 (S37A +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +9 more	GLikely pathogenic
Select item 376234	NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)	CTNNB1, LOC126806658 (S37P +1 more)	Single nucleotide variant (missense variant)	Neoplasm of stomach +9 more	GLikely pathogenic
Select item 375894	NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)	CTNNB1, LOC126806658 (S37Y +1 more)	Single nucleotide variant (missense variant)	Neoplasm of stomach +10 more	GPathogenic/Likely pathogenic
Select item 17586	NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)	CTNNB1, LOC126806658 (S37F +1 more)	Single nucleotide variant (missense variant)	Transitional cell carcinoma of the bladder +11 more	GPathogenic/Likely pathogenic
Select item 17579	NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)	CTNNB1, LOC126806658 (S37C +1 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma +11 more	GPathogenic/Likely pathogenic
Select item 3344825	NM_001904.4(CTNNB1):c.113_119del (p.Gly38fs)	CTNNB1, LOC126806658 (G31fs +1 more)	Deletion (frameshift variant)	CTNNB1-related disorder	GLikely pathogenic
Select item 376238	NM_001904.4(CTNNB1):c.118A>T (p.Thr40Ser)	CTNNB1, LOC126806658 (T40S +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376237	NM_001904.4(CTNNB1):c.118A>G (p.Thr40Ala)	CTNNB1, LOC126806658 (T40A +1 more)	Single nucleotide variant (missense variant)	Neoplasm of stomach	GLikely pathogenic
Select item 376236	NM_001904.4(CTNNB1):c.118A>C (p.Thr40Pro)	LOC126806658, CTNNB1 (T40P +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376240	NM_001904.4(CTNNB1):c.119C>T (p.Thr40Ile)	CTNNB1, LOC126806658 (T40I +1 more)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376239	NM_001904.4(CTNNB1):c.119C>G (p.Thr40Ser)	LOC126806658, CTNNB1 (T40S +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 17580	NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	CTNNB1, LOC126806658 (T41A +1 more)	Single nucleotide variant (missense variant)	Desmoid tumor	GLikely pathogenic
Select item 2284921	NM_001904.4(CTNNB1):c.122C>G (p.Thr41Ser)	CTNNB1, LOC126806658 (T41S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376394	NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)	CTNNB1, LOC126806658 (T41N +1 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +7 more	GLikely pathogenic
Select item 17587	NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)	CTNNB1, LOC126806658 (T41I +1 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary	GLikely pathogenic
Select item 1364336	NM_001904.4(CTNNB1):c.124A>G (p.Thr42Ala)	CTNNB1, LOC126806658 (T35A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434867	NM_001904.4(CTNNB1):c.125C>T (p.Thr42Ile)	CTNNB1, LOC126806658 (T42I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 17576	NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)	CTNNB1, LOC126806658 (S45del +1 more)	Deletion (inframe_deletion)	Nephroblastoma +2 more	GPathogenic; other OOncogenic
Select item 1343152	NM_001904.4(CTNNB1):c.133del (p.Ser45fs)	CTNNB1, LOC126806658 (S38fs +1 more)	Deletion (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 376241	NM_001904.4(CTNNB1):c.133T>G (p.Ser45Ala)	CTNNB1, LOC126806658 (S45A +1 more)	Single nucleotide variant (missense variant)	Disease +1 more	GLikely pathogenic
Select item 17589	NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)	CTNNB1, LOC126806658 (S45P +1 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +11 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376242	NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)	CTNNB1, LOC126806658 (S45C +1 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +8 more	GLikely pathogenic
Select item 375895	NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)	CTNNB1, LOC126806658 (S45Y +1 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +8 more	GPathogenic/Likely pathogenic
Select item 17588	NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)	CTNNB1, LOC126806658 (S45F +1 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +11 more	GPathogenic/Likely pathogenic; other
Select item 2911654	NM_001904.4(CTNNB1):c.150C>T (p.Gly50=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428455	NM_001904.4(CTNNB1):c.152A>G (p.Asn51Ser)	CTNNB1, LOC126806658 (N44S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344804	NM_001904.4(CTNNB1):c.160G>T (p.Glu54Ter)	CTNNB1, LOC126806658 (E47* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1320077	NM_001904.4(CTNNB1):c.163G>T (p.Glu55Ter)	CTNNB1, LOC126806658 (E48* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1963513	NM_001904.4(CTNNB1):c.168T>C (p.Asp56=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579504	NM_001904.4(CTNNB1):c.176C>T (p.Thr59Ile)	CTNNB1, LOC126806658 (T52I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109881	NM_001904.4(CTNNB1):c.179C>G (p.Ser60Cys)	LOC126806658, CTNNB1 (S53C +1 more)	Single nucleotide variant (missense variant)	CTNNB1-related disorder +1 more	GUncertain significance
Select item 1399229	NM_001904.4(CTNNB1):c.181C>T (p.Gln61Ter)	CTNNB1, LOC126806658 (Q54* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2110376	NM_001904.4(CTNNB1):c.195G>A (p.Glu65=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 280325	NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)	LOC126806658, CTNNB1 (W66* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817214	NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)	CTNNB1, LOC126806658 (S64fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2865068	NM_001904.4(CTNNB1):c.224C>T (p.Thr75Ile)	CTNNB1, LOC126806658 (T75I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099698	NM_001904.4(CTNNB1):c.226C>G (p.Gln76Glu)	CTNNB1, LOC126806658 (Q69E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872005	NM_001904.4(CTNNB1):c.238G>C (p.Ala80Pro)	CTNNB1, LOC126806658 (A73P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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