C1708349[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 226

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 820715	NM_004360.5(CDH1):c.20G>C (p.Ser7Thr)	CDH1 (S7T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 649532	NM_004360.5(CDH1):c.28G>A (p.Ala10Thr)	CDH1 (A10T)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GUncertain significance
Select item 421050	NM_004360.5(CDH1):c.49-3C>A	CDH1	Single nucleotide variant (intron variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 406631	NM_004360.5(CDH1):c.49-2A>G	CDH1	Single nucleotide variant (splice acceptor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 479528	NM_004360.5(CDH1):c.56C>G (p.Ser19Cys)	CDH1 (S19C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 230175	NM_004360.5(CDH1):c.61C>G (p.Leu21Val)	CDH1 (L21V)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 216596	NM_004360.5(CDH1):c.61C>T (p.Leu21Phe)	CDH1 (L21F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 239913	NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)	CDH1 (P27S)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 823156	NM_004360.5(CDH1):c.92G>A (p.Gly31Asp)	CDH1 (G31D)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 420753	NM_004360.5(CDH1):c.107G>A (p.Ser36Asn)	CDH1 (S36N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 489846	NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)	CDH1 (T38P)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 187063	NM_004360.5(CDH1):c.112A>G (p.Thr38Ala)	CDH1 (T38A)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 231745	NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)	CDH1 (P42L)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 1778959	NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)	CDH1 (E58*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 406647	NM_004360.5(CDH1):c.172G>A (p.Glu58Lys)	CDH1 (E58K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 406667	NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)	CDH1 (A67T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182389	NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)	CDH1 (A67G)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 820574	NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)	CDH1 (Y68C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 141592	NM_004360.5(CDH1):c.208T>C (p.Ser70Pro)	CDH1 (S70P)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GUncertain significance
Select item 239891	NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)	CDH1 (R74*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 406646	NM_004360.5(CDH1):c.225C>G (p.Phe75Leu)	CDH1 (F75L)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 419434	NM_004360.5(CDH1):c.244G>A (p.Val82Met)	CDH1 (V82M)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GUncertain significance
Select item 1022254	NM_004360.5(CDH1):c.245T>G (p.Val82Gly)	CDH1 (V82G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 219521	NM_004360.5(CDH1):c.251C>T (p.Thr84Ile)	CDH1 (T84I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 239902	NM_004360.5(CDH1):c.261G>C (p.Arg87Ser)	CDH1 (R87S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 182390	NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)	CDH1 (R90W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 187729	NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)	CDH1 (A102S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 532466	NM_004360.5(CDH1):c.313T>A (p.Ser105Thr)	CDH1 (S105T)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 141801	NM_004360.5(CDH1):c.325A>C (p.Lys109Gln)	CDH1 (K109Q)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 140878	NM_004360.5(CDH1):c.344C>T (p.Thr115Met)	CDH1 (T115M)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 486824	NM_004360.5(CDH1):c.382del (p.His128fs)	CDH1 (H128fs)	Deletion (frameshift variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 439043	NM_004360.5(CDH1):c.382C>T (p.His128Tyr)	CDH1 (H128Y)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 2503034	NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)	CDH1 (Q129*)	Single nucleotide variant (nonsense +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GPathogenic
Select item 141661	NM_004360.5(CDH1):c.387+1G>A	CDH1	Single nucleotide variant (splice donor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 957154	NM_004360.5(CDH1):c.387+2T>C	CDH1	Single nucleotide variant (splice donor variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GUncertain significance
Select item 219863	NM_004360.5(CDH1):c.413A>G (p.Glu138Gly)	CDH1 (E138G)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GUncertain significance
Select item 239907	NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)	CDH1 (C163S)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GConflicting classifications of pathogenicity
Select item 406644	NM_004360.5(CDH1):c.532-1G>C	CDH1	Single nucleotide variant (splice acceptor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 1749207	NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)	CDH1 (Y190*)	Single nucleotide variant (nonsense +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GPathogenic/Likely pathogenic
Select item 483220	NM_004360.5(CDH1):c.585A>C (p.Gln195His)	CDH1 (Q195H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 422737	NM_004360.5(CDH1):c.602C>G (p.Pro201Arg)	CDH1 (P201R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 861154	NM_004360.5(CDH1):c.611T>C (p.Val204Ala)	CDH1 (V204A)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GUncertain significance
Select item 629918	NM_004360.5(CDH1):c.620T>C (p.Ile207Thr)	CDH1 (I207T)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GUncertain significance
Select item 231975	NM_004360.5(CDH1):c.650C>T (p.Thr217Ile)	CDH1 (T217I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 422816	NM_004360.5(CDH1):c.679A>G (p.Thr227Ala)	CDH1 (T227A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 239911	NM_004360.5(CDH1):c.700G>A (p.Ala234Thr)	CDH1 (A234T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 132709	NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)	CDH1 (G239R)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 420005	NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)	CDH1 (D244G)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 142802	NM_004360.5(CDH1):c.794A>T (p.Glu265Val)	CDH1 (E265V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 439473	NM_004360.5(CDH1):c.805G>A (p.Gly269Arg)	CDH1 (G269R)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 230201	NM_004360.5(CDH1):c.826C>G (p.Leu276Val)	CDH1 (L276V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 439045	NM_004360.5(CDH1):c.833-2A>G	CDH1	Single nucleotide variant (splice acceptor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 219957	NM_004360.5(CDH1):c.846G>A (p.Met282Ile)	CDH1 (M282I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141288	NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)	CDH1 (T285I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 532469	NM_004360.5(CDH1):c.865G>A (p.Ala289Thr)	CDH1 (A289T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 233798	NM_004360.5(CDH1):c.871G>A (p.Asp291Asn)	CDH1 (D291N)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GConflicting classifications of pathogenicity
Select item 491559	NM_004360.5(CDH1):c.883A>G (p.Thr295Ala)	CDH1 (T295A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 185413	NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)	CDH1 (A301T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 575814	NM_004360.5(CDH1):c.981T>G (p.Ser327Arg)	CDH1 (S327R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186460	NM_004360.5(CDH1):c.982G>A (p.Val328Met)	CDH1 (V328M)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GUncertain significance
Select item 823582	NM_004360.5(CDH1):c.995G>T (p.Gly332Val)	CDH1 (G332V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 567658	NM_004360.5(CDH1):c.1003C>G (p.Arg335Gly)	CDH1 (R335G)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GUncertain significance
Select item 183727	NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)	CDH1	Microsatellite (splice acceptor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 406621	NM_004360.5(CDH1):c.1013T>G (p.Phe338Cys)	CDH1 (F338C)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GUncertain significance
Select item 485478	NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala)	CDH1 (P339A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1721497	NM_004360.5(CDH1):c.1024A>G (p.Thr342Ala)	CDH1 (T342A)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 2580963	NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)	CDH1	Deletion (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GConflicting classifications of pathogenicity
Select item 862469	NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys)	CDH1 (T357K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 643357	NM_004360.5(CDH1):c.1079C>G (p.Thr360Arg)	CDH1 (T360R)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GUncertain significance
Select item 406653	NM_004360.5(CDH1):c.1096A>G (p.Thr366Ala)	CDH1 (T366A)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 233204	NM_004360.5(CDH1):c.1097C>G (p.Thr366Ser)	CDH1 (T366S)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GUncertain significance
Select item 1044133	NM_004360.5(CDH1):c.1106A>G (p.Asn369Ser)	CDH1 (N369S)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 2441733	NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)	CDH1 (N369K)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate +2 more	GUncertain significance
Select item 578952	NM_004360.5(CDH1):c.1107del (p.Asn369fs)	CDH1 (N369fs)	Deletion (frameshift variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 483234	NM_004360.5(CDH1):c.1112A>G (p.Asn371Ser)	CDH1 (N371S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 481060	NM_004360.5(CDH1):c.1127A>G (p.Asn376Ser)	CDH1 (N376S)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 233979	NM_004360.5(CDH1):c.1137+1G>A	CDH1	Single nucleotide variant (splice donor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 1055722	NM_004360.5(CDH1):c.1158G>T (p.Glu386Asp)	CDH1 (E386D)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 463702	NM_004360.5(CDH1):c.1169A>G (p.Asn390Ser)	CDH1 (N390S)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 232232	NM_004360.5(CDH1):c.1183A>G (p.Thr395Ala)	CDH1 (T395A)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 1506353	NM_004360.5(CDH1):c.1192G>A (p.Val398Met)	CDH1 (V398M)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 422738	NM_004360.5(CDH1):c.1202C>A (p.Ala401Asp)	CDH1 (A401D)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 419071	NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)	CDH1 (A401V)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +4 more	GUncertain significance
Select item 184801	NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)	CDH1 (T414N)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary diffuse gastric adenocarcinoma +4 more	GUncertain significance
Select item 142306	NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)	CDH1 (I415T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary diffuse gastric adenocarcinoma +4 more	GConflicting classifications of pathogenicity
Select item 463704	NM_004360.5(CDH1):c.1257TGG[1] (p.Gly421del)	CDH1 (G421del)	Microsatellite (5 prime UTR variant +2 more)	Hereditary diffuse gastric adenocarcinoma +3 more	GConflicting classifications of pathogenicity
Select item 2035493	NM_004360.5(CDH1):c.1269del (p.Phe423fs)	CDH1 (F423fs)	Deletion (5 prime UTR variant +2 more)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 463706	NM_004360.5(CDH1):c.1273G>C (p.Val425Leu)	CDH1 (V425L)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 186937	NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys)	CDH1 (N432K)	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 220738	NM_004360.5(CDH1):c.1303A>G (p.Ile435Val)	CDH1 (I435V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184950	NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)	CDH1 (A439T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 219581	NM_004360.5(CDH1):c.1319A>G (p.Lys440Arg)	CDH1 (K440R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +3 more	GUncertain significance

<< First< Prev

Page of 3