C0699790[trait identifier] AND "Department of Pathology and Laboratory - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41757	NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	MUTYH (R534Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 184281	NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	Gastric cancer +4 more	GPathogenic
Select item 183787	NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 141925	NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)	MUTYH (P465A +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of stomach +8 more	GPathogenic/Likely pathogenic
Select item 156509	NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	MUTYH (Q391* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 41767	NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)	MUTYH (Q338H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign
Select item 132703	NM_001048174.2(MUTYH):c.914-9C>T	MUTYH	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 433935	NM_001048174.2(MUTYH):c.806G>T (p.Cys269Phe)	MUTYH (C297F +7 more)	Single nucleotide variant (missense variant +1 more)	Carcinoma of colon	GUncertain significance
Select item 185242	NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	MUTYH (P295L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 433934	NM_001048174.2(MUTYH):c.775del (p.Ala259fs)	MUTYH (A274fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 232291	NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)	MUTYH (M283V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 143003	NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	MUTYH (R247* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 372416	NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)	MUTYH (N238S +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
Select item 371678	NM_001048174.2(MUTYH):c.606+14C>G	MUTYH	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 140830	NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)	MUTYH (R217H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GPathogenic/Likely pathogenic
Select item 230971	NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	MUTYH (W156* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 234229	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 138309	NM_001048174.2(MUTYH):c.264+11G>A	MUTYH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 142812	NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)	MUTYH (R116W +5 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 183896	NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	MUTYH (R109W +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 132760	NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 5296	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH (Y90* +5 more)	Single nucleotide variant (nonsense +2 more)	Gastric cancer +4 more	GPathogenic/Likely pathogenic
Select item 185512	NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)	MUTYH (R97Q +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 234004	NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)	MUTYH (H85R +5 more)	Single nucleotide variant (missense variant +3 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41763	NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	MUTYH (G25D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41760	NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)	MUTYH (V22M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
Select item 41759	NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	MUTYH (P18L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 138307	NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 216520	NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)	MUTYH (A13T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 138310	NM_025077.4(TOE1):c.-45G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 7 +3 more	GConflicting classifications of pathogenicity
Select item 1049167	NM_002354.3(EPCAM):c.556-3_657+288del	EPCAM	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050058	NM_002354.3(EPCAM):c.859-2_903+43del	EPCAM	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1048820	NM_000251.3(MSH2):c.-4_211+864del	MSH2	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
Select item 1050726	NM_000251.3(MSH2):c.-1_211+1177del	MSH2	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
Select item 1050099	NM_000251.3(MSH2):c.-2_211+1del	MSH2	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
Select item 1050002	NM_000251.3(MSH2):c.-2_211+156del	MSH2	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 90639	NM_000251.3(MSH2):c.136_164del (p.His46fs)	MSH2 (H46fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90662	NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	MSH2 (E48*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 182608	NM_000251.3(MSH2):c.198C>T (p.Tyr66=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	MSH2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 142708	NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	MSH2 (G71R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 1050033	NM_000251.3(MSH2):c.212-2_366+1del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049743	NM_000251.3(MSH2):c.212-1_366+1dup	MSH2	Duplication (splice acceptor variant +1 more)	Carcinoma of colon	GUncertain significance
Select item 1049241	NM_000251.3(MSH2):c.212-1_366+712del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049367	NM_000251.3(MSH2):c.367-28A>G	MSH2	Single nucleotide variant (intron variant)	Carcinoma of colon	GLikely benign
Select item 1050128	NM_000251.3(MSH2):c.367-2_645+1del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 91089	NM_000251.3(MSH2):c.387_388del (p.Gln130fs)	MSH2 (Q130fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 91099	NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)	MSH2 (G149D +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 1048814	NM_000251.3(MSH2):c.459del (p.Ala154fs)	MSH2 (A154fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1	GPathogenic
Select item 91121	NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)	MSH2 (L173P +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +3 more	GPathogenic/Likely pathogenic
Select item 91134	NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)	MSH2 (L187P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 91139	NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)	MSH2 (L191del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 433876	NM_000251.3(MSH2):c.613_616dup (p.Thr206fs)	MSH2 (T140fs +1 more)	Microsatellite (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 455603	NM_000251.3(MSH2):c.628_629del (p.Met210fs)	MSH2 (M144fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic
Select item 1048904	NM_000251.3(MSH2):c.646-1_792+486del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 433877	NM_000251.3(MSH2):c.646-1_648del	MSH2	Deletion (splice acceptor variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 489951	NM_000251.3(MSH2):c.648_650del (p.Ile217del)	MSH2 (I217del +1 more)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 91177	NM_000251.3(MSH2):c.687del (p.Ala230fs)	MSH2 (A230fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91180	NM_000251.3(MSH2):c.696_697del (p.Ser233fs)	MSH2 (S167fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91239	NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)	MSH2 (Q298* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 1050018	NM_000251.3(MSH2):c.943-2_1076+1del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 91254	NM_000251.3(MSH2):c.943-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91264	NM_000251.3(MSH2):c.972G>A (p.Gln324=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 1050723	NM_000251.3(MSH2):c.999dup (p.Lys334Ter)	MSH2 (K268* +1 more)	Duplication (nonsense)	Lynch syndrome 1	GPathogenic
Select item 90503	NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	MSH2 (G338R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 184194	NM_000251.3(MSH2):c.1014A>C (p.Gly338=)	MSH2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 90506	NM_000251.3(MSH2):c.1018dup (p.Arg340fs)	MSH2 (R274fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 187660	NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)	MSH2 (Q348R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 433880	NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg)	MSH2 (I356R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1050428	NM_000251.3(MSH2):c.1077-2_1276+1del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 90557	NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	MSH2 (R389* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 41641	NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)	MSH2 (L390F +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 483669	NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys)	MSH2 (N400K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 433881	NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)	MSH2 (Y405* +1 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90573	NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)	MSH2 (Y342fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90583	NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)	MSH2 (Q419K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 90589	NM_000251.3(MSH2):c.1275A>G (p.Glu425=)	MSH2	Single nucleotide variant (synonymous variant)	Polyp of colon +5 more	GConflicting classifications of pathogenicity
Select item 90590	NM_000251.3(MSH2):c.1276+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GPathogenic
Select item 1050772	NM_000251.3(MSH2):c.1387-2del	MSH2	Deletion (splice acceptor variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 186853	NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)	MSH2 (K471N +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 90666	NM_000251.3(MSH2):c.1444dup (p.Arg482fs)	MSH2 (R416fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90670	NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)	MSH2 (N420fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic

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