C1708349[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 221174	NM_004360.5(CDH1):c.-71C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 885853	NM_004360.5(CDH1):c.-63C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GConflicting classifications of pathogenicity
Select item 221181	NM_004360.5(CDH1):c.-54G>C	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GBenign/Likely benign
Select item 182387	NM_004360.5(CDH1):c.-41C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 127933	NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)	CDH1 (P30T)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 239883	NM_004360.5(CDH1):c.150C>A (p.Arg50=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 141639	NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)	CDH1 (G62S)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 142578	NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)	CDH1 (A102T)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 132720	NM_004360.5(CDH1):c.345G>A (p.Thr115=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 239905	NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)	CDH1 (R124C)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 184085	NM_004360.5(CDH1):c.393C>T (p.Ser131=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 377637	NM_004360.5(CDH1):c.462A>G (p.Arg154=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 132692	NM_004360.5(CDH1):c.531+10G>C	CDH1	Single nucleotide variant (intron variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 888123	NM_004360.5(CDH1):c.597A>G (p.Thr199=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 133853	NM_004360.5(CDH1):c.604G>A (p.Val202Ile)	CDH1 (V202I)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 41786	NM_004360.5(CDH1):c.671G>A (p.Arg224His)	CDH1 (R224H)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 142802	NM_004360.5(CDH1):c.794A>T (p.Glu265Val)	CDH1 (E265V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 142011	NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)	CDH1 (S270A)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 183900	NM_004360.5(CDH1):c.867G>A (p.Ala289=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GBenign/Likely benign
Select item 41787	NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)	CDH1 (A298T)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 183838	NM_004360.5(CDH1):c.894C>T (p.Ala298=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related condition +5 more	GBenign/Likely benign
Select item 142633	NM_004360.5(CDH1):c.933C>G (p.Leu311=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 422742	NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser)	CDH1 (T340S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 12245	NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)	CDH1 (T340A)	Single nucleotide variant (5 prime UTR variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 182380	NM_004360.5(CDH1):c.1020G>A (p.Thr340=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 239874	NM_004360.5(CDH1):c.1023T>C (p.Tyr341=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 320264	NM_004360.5(CDH1):c.1137+9A>T	CDH1	Single nucleotide variant (intron variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 184069	NM_004360.5(CDH1):c.1170C>T (p.Asn390=)	CDH1	Single nucleotide variant (5 prime UTR variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 141810	NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)	CDH1 (D433G)	Single nucleotide variant (5 prime UTR variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 136058	NM_004360.5(CDH1):c.1308G>A (p.Leu436=)	CDH1	Single nucleotide variant (5 prime UTR variant +2 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 184950	NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)	CDH1 (A439T)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 184324	NM_004360.5(CDH1):c.1359C>T (p.His453=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 491494	NM_004360.5(CDH1):c.1360G>C (p.Val454Leu)	CDH1 (V454L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 885912	NM_004360.5(CDH1):c.1366G>T (p.Val456Leu)	CDH1 (V456L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 136697	NM_004360.5(CDH1):c.1680G>C (p.Thr560=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 136061	NM_004360.5(CDH1):c.1689C>T (p.Ala563=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 233079	NM_004360.5(CDH1):c.1716T>C (p.Ser572=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GConflicting classifications of pathogenicity
Select item 136698	NM_004360.5(CDH1):c.1744C>T (p.Leu582=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 41783	NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)	CDH1 (A592T +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 481702	NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)	CDH1 (I615V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +7 more	GUncertain significance
Select item 12232	NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	CDH1 (A617T +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320265	NM_004360.5(CDH1):c.1887A>G (p.Glu629=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GConflicting classifications of pathogenicity
Select item 133846	NM_004360.5(CDH1):c.1888C>G (p.Leu630Val)	CDH1 (L630V +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 141570	NM_004360.5(CDH1):c.1896C>T (p.His632=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320266	NM_004360.5(CDH1):c.1936A>G (p.Thr646Ala)	CDH1 (T646A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 140806	NM_004360.5(CDH1):c.1937-13T>C	CDH1	Single nucleotide variant (intron variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 142770	NM_004360.5(CDH1):c.2076T>C (p.Ala692=)	CDH1	Single nucleotide variant (synonymous variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 184654	NM_004360.5(CDH1):c.2079C>T (p.Gly693=)	CDH1	Single nucleotide variant (synonymous variant)	CDH1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 259292	NM_004360.5(CDH1):c.2164+17dup	CDH1	Duplication (intron variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 182385	NM_004360.5(CDH1):c.2165-15C>A	CDH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182403	NM_004360.5(CDH1):c.2219C>A (p.Pro740His)	CDH1 (P740H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142145	NM_004360.5(CDH1):c.2253C>T (p.Asn751=)	CDH1	Single nucleotide variant (synonymous variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 183864	NM_004360.5(CDH1):c.2280C>T (p.Gly760=)	CDH1	Single nucleotide variant (synonymous variant)	CDH1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 136699	NM_004360.5(CDH1):c.2292C>T (p.Asp764=)	CDH1	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 184091	NM_004360.5(CDH1):c.2331C>T (p.Asp777=)	CDH1	Single nucleotide variant (synonymous variant)	CDH1-related condition +4 more	GBenign/Likely benign
Select item 127925	NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)	CDH1 (D805N +3 more)	Single nucleotide variant (missense variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 127926	NM_004360.5(CDH1):c.2440-6C>G	CDH1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 183842	NM_004360.5(CDH1):c.2451G>A (p.Ala817=)	CDH1	Single nucleotide variant (synonymous variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 185990	NM_004360.5(CDH1):c.2505T>C (p.Tyr835=)	CDH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 12233	NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)	CDH1 (S838G +3 more)	Single nucleotide variant (missense variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 136067	NM_004360.5(CDH1):c.2589C>T (p.Asn863=)	CDH1	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 142632	NM_004360.5(CDH1):c.2634C>T (p.Gly878=)	CDH1	Single nucleotide variant (synonymous variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320267	NM_004360.5(CDH1):c.*54C>T	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320268	NM_004360.5(CDH1):c.*172A>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320269	NM_004360.5(CDH1):c.*192C>T	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320270	NM_004360.5(CDH1):c.*193G>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 885984	NM_004360.5(CDH1):c.*196T>G	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320272	NM_004360.5(CDH1):c.*209C>T	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GBenign
Select item 320271	NM_004360.5(CDH1):c.*221dup	CDH1	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320273	NM_004360.5(CDH1):c.*221del	CDH1	Deletion (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 885985	NM_004360.5(CDH1):c.*236C>T	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320274	NM_004360.5(CDH1):c.*309C>T	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320275	NM_004360.5(CDH1):c.*346A>T	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320276	NM_004360.5(CDH1):c.*409T>A	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320277	NM_004360.5(CDH1):c.*410A>T	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 886982	NM_004360.5(CDH1):c.*424T>A	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320278	NM_004360.5(CDH1):c.474_475dup	CDH1	Duplication (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320279	NM_004360.5(CDH1):c.*475del	CDH1	Deletion (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320280	NM_004360.5(CDH1):c.*575A>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 886983	NM_004360.5(CDH1):c.*582C>A	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320281	NM_004360.5(CDH1):c.*589C>T	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320282	NM_004360.5(CDH1):c.*615G>A	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320283	NM_004360.5(CDH1):c.*621C>T	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320284	NM_004360.5(CDH1):c.*623A>G	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 888246	NM_004360.5(CDH1):c.*627T>G	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320285	NM_004360.5(CDH1):c.*746C>A	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer +1 more	GBenign/Likely benign
Select item 320286	NM_004360.5(CDH1):c.*774A>G	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320287	NM_004360.5(CDH1):c.*959C>A	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320288	NM_004360.5(CDH1):c.*988G>A	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320289	NM_004360.5(CDH1):c.*1049A>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320290	NM_004360.5(CDH1):c.*1076T>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320291	NM_004360.5(CDH1):c.*1120T>C	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320292	NM_004360.5(CDH1):c.*1176T>G	CDH1	Single nucleotide variant (3 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 320293	NM_004360.5(CDH1):c.*1285T>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320294	NM_004360.5(CDH1):c.*1435A>T	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 885141	NM_004360.5(CDH1):c.*1545T>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 320295	NM_004360.5(CDH1):c.*1591T>C	CDH1	Single nucleotide variant (3 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance

<< First< Prev

Page of 2