C1708349[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1416783	NM_001903.5(CTNNA1):c.86del (p.Leu29fs)	CTNNA1 (L29fs)	Deletion (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GConflicting classifications of pathogenicity
Select item 2673295	NM_001903.5(CTNNA1):c.99del (p.Thr34fs)	CTNNA1 (T34fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 664131	NM_001903.5(CTNNA1):c.105+1G>C	CTNNA1	Single nucleotide variant (splice donor variant)	Patterned macular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1472837	NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs)	CTNNA1 (K51fs)	Deletion (frameshift variant +2 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 3148700	NM_001903.5(CTNNA1):c.157_158del (p.Gly53fs)	CTNNA1 (G53fs)	Deletion (frameshift variant +2 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2583832	NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)	CTNNA1 (F72fs)	Deletion (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 661149	NM_001903.5(CTNNA1):c.222_223del (p.Lys75fs)	CTNNA1 (K75fs)	Microsatellite (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 1051089	NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter)	CTNNA1 (R98*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 840285	NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)	CTNNA1 (R18* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic/Likely pathogenic
Select item 2674000	NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)	CTNNA1 (A128fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 849931	NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)	CTNNA1 (R129* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 639104	NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)	CTNNA1 (T136fs +2 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma +3 more	GConflicting classifications of pathogenicity
Select item 2673290	NM_001903.5(CTNNA1):c.468+1G>T	CTNNA1	Single nucleotide variant (splice donor variant)	Hereditary diffuse gastric adenocarcinoma	GLikely pathogenic
Select item 2673985	NM_001903.5(CTNNA1):c.580del (p.Arg194fs)	CTNNA1 (R194fs +2 more)	Deletion (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2034531	NM_001903.5(CTNNA1):c.583C>T (p.Gln195Ter)	CTNNA1 (Q72* +2 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 2674003	NM_001903.5(CTNNA1):c.608_623del (p.His203fs)	CTNNA1 (H100fs +2 more)	Deletion (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 650874	NM_001903.5(CTNNA1):c.611G>A (p.Arg204His)	CTNNA1 (R81H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2431324	NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)	CTNNA1 (Y119fs +2 more)	Deletion (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2674001	NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)	CTNNA1 (Q124* +2 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 3254375	NM_001903.5(CTNNA1):c.887dup (p.Ser297fs)	CTNNA1 (S174fs +2 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2673318	NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)	CTNNA1 (E175* +2 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 1011394	NM_001903.5(CTNNA1):c.919del (p.Glu307fs)	CTNNA1 (E184fs +2 more)	Deletion (frameshift variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 1768695	NM_001903.5(CTNNA1):c.994C>T (p.Arg332Ter)	CTNNA1 (R209* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1785211	NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)	CTNNA1 (E213fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2673327	NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)	CTNNA1 (S226* +2 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 3254404	NM_001903.5(CTNNA1):c.1053C>A (p.Tyr351Ter)	CTNNA1 (Y228* +2 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 852483	NM_001903.5(CTNNA1):c.1078_1081del (p.Arg360fs)	CTNNA1 (R257fs +2 more)	Microsatellite (frameshift variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2674021	NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)	CTNNA1 (E236* +2 more)	Single nucleotide variant (nonsense +2 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 3254385	NM_001903.5(CTNNA1):c.1134dup (p.Arg379fs)	CTNNA1 (R256fs +3 more)	Duplication (frameshift variant +2 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 850632	NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)	CTNNA1 (V416fs +3 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 944033	NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)	CTNNA1 (I61fs +3 more)	Microsatellite (frameshift variant +2 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GConflicting classifications of pathogenicity
Select item 2673335	NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)	CTNNA1 (N319fs +3 more)	Deletion (frameshift variant +2 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 849700	NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)	CTNNA1 (E341fs +3 more)	Duplication (frameshift variant +2 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 3379285	NM_001903.5(CTNNA1):c.1350del (p.Arg451fs)	CTNNA1 (R328fs +3 more)	Deletion (frameshift variant +2 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 659776	NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)	CTNNA1 (R451* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GConflicting classifications of pathogenicity
Select item 2673288	NM_001903.5(CTNNA1):c.1390-6_1392delinsA	CTNNA1	Indel (splice acceptor variant)	Hereditary diffuse gastric adenocarcinoma	GLikely pathogenic
Select item 3148695	NM_001903.5(CTNNA1):c.1430_1433del (p.Ser477fs)	CTNNA1 (S354fs +6 more)	Deletion (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 3148688	NM_001903.5(CTNNA1):c.1450dup (p.Met484fs)	CTNNA1 (M453fs +7 more)	Duplication (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2673324	NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)	CTNNA1 (E119fs +7 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2431283	NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)	CTNNA1 (E122fs +7 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2673332	NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)	CTNNA1 (W121* +7 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2673292	NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)	CTNNA1 (Q11* +7 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic/Likely pathogenic
Select item 1046228	NM_001903.5(CTNNA1):c.1544C>G (p.Ser515Ter)	CTNNA1 (S114* +7 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1491863	NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs)	CTNNA1 (I45fs +7 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3379234	NM_001903.5(CTNNA1):c.1598dup (p.Asp534fs)	CTNNA1 (D133fs +7 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 644723	NM_001903.5(CTNNA1):c.1613_1617dup (p.Arg540fs)	CTNNA1 (R170fs +7 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma +2 more	GConflicting classifications of pathogenicity
Select item 1776938	NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)	CTNNA1 (R515fs +7 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 952124	NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter)	CTNNA1 (R145* +7 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 957004	NM_001903.5(CTNNA1):c.1768C>T (p.Gln590Ter)	CTNNA1 (Q220* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2573260	NM_001903.5(CTNNA1):c.1815del (p.Met606fs)	CTNNA1 (M123fs +7 more)	Deletion (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2673300	NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)	CTNNA1 (E125* +7 more)	Single nucleotide variant (nonsense)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 820262	NM_001903.5(CTNNA1):c.1899+1G>C	CTNNA1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3148663	NM_001903.5(CTNNA1):c.1904_1905del (p.Pro635fs)	CTNNA1 (P532fs +7 more)	Deletion (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2573254	NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)	CTNNA1 (E153fs +7 more)	Deletion (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2573293	NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)	CTNNA1	Deletion (nonsense)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 1038840	NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter)	CTNNA1 (Q657* +7 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1047567	NM_001903.5(CTNNA1):c.1991dup (p.Ala665fs)	CTNNA1 (A214fs +7 more)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 999250	NM_001903.5(CTNNA1):c.1997del (p.Gly666fs)	CTNNA1 (G183fs +7 more)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2673968	NM_001903.5(CTNNA1):c.2008dup (p.Arg670fs)	CTNNA1 (R187fs +7 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma	GLikely pathogenic
Select item 2563278	NM_001903.5(CTNNA1):c.2017_2018dup (p.Met673fs)	CTNNA1 (M222fs +7 more)	Duplication (frameshift variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GConflicting classifications of pathogenicity
Select item 640852	NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter)	CTNNA1 (Q192* +7 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 643191	NM_001903.5(CTNNA1):c.2493G>C (p.Gln831His)	CTNNA1 (Q461H +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GConflicting classifications of pathogenicity
Select item 532457	NM_004360.5(CDH1):c.1A>G (p.Met1Val)	CDH1 (M1V)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 532474	NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	CDH1 (M1R)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 486826	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	CDH1 (M1T)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 239906	NM_004360.5(CDH1):c.3G>A (p.Met1Ile)	CDH1 (M1I)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 184107	NM_004360.5(CDH1):c.6C>T (p.Gly2=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 142469	NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)	CDH1 (P3R)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 463799	NM_004360.5(CDH1):c.9T>C (p.Pro3=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 918853	NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)	CDH1 (W4*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 548782	NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	CDH1 (W4*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 184111	NM_004360.5(CDH1):c.15C>T (p.Ser5=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GBenign/Likely benign
Select item 184145	NM_004360.5(CDH1):c.18C>A (p.Arg6=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 2583287	NM_004360.5(CDH1):c.25_26del (p.Ser9fs)	CDH1 (S9fs)	Microsatellite (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 630530	NM_004360.5(CDH1):c.24C>G (p.Leu8=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GBenign/Likely benign
Select item 382251	NM_004360.5(CDH1):c.24C>T (p.Leu8=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 651982	NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	CDH1 (S9*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 184065	NM_004360.5(CDH1):c.27G>A (p.Ser9=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 220798	NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)	CDH1	Microsatellite (inframe_insertion +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 491533	NM_004360.5(CDH1):c.30G>T (p.Ala10=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1132551	NM_004360.5(CDH1):c.31C>T (p.Leu11=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GBenign/Likely benign
Select item 182377	NM_004360.5(CDH1):c.33G>C (p.Leu11=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 414047	NM_004360.5(CDH1):c.34C>T (p.Leu12=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 2583748	NM_004360.5(CDH1):c.42dup (p.Leu15fs)	CDH1 (L15fs)	Duplication (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 3265111	NM_004360.5(CDH1):c.43C>T (p.Leu15=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GBenign/Likely benign
Select item 993184	NM_004360.5(CDH1):c.45G>T (p.Leu15=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 919859	NM_004360.5(CDH1):c.45G>A (p.Leu15=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GBenign/Likely benign
Select item 2583689	NM_004360.5(CDH1):c.47dup (p.Val17fs)	CDH1 (V17fs)	Duplication (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2583204	NM_004360.5(CDH1):c.46C>T (p.Gln16Ter)	CDH1 (Q16*)	Single nucleotide variant (nonsense +1 more)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 2710949	NM_004360.5(CDH1):c.48+1G>C	CDH1	Single nucleotide variant (splice donor variant)	Hereditary diffuse gastric adenocarcinoma	GPathogenic
Select item 449341	NM_004360.5(CDH1):c.48+1G>A	CDH1	Single nucleotide variant (splice donor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 140784	NM_004360.5(CDH1):c.48+5C>G	CDH1	Single nucleotide variant (intron variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 3378840	NM_004360.5(CDH1):c.48+6_48+10delinsTCGGT	CDH1	Indel (intron variant)	Hereditary diffuse gastric adenocarcinoma	GLikely benign
Select item 1171549	NM_004360.5(CDH1):c.48+6_48+8delinsTCA	CDH1	Indel (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 922365	NM_004360.5(CDH1):c.48+6_48+7delinsTG	CDH1	Indel (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 136692	NM_004360.5(CDH1):c.48+6C>T	CDH1	Single nucleotide variant (intron variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 136068	NM_004360.3(CDH1):c.48+6_48+7delinsTT	CDH1	Indel (intron variant)	Hereditary diffuse gastric adenocarcinoma +2 more	GLikely benign
Select item 142318	NM_004360.5(CDH1):c.48+7C>T	CDH1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign

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