ClinVar for MedGen (Select 147065) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063816	NM_000038.6(APC):c.[5026A>G;7399C>A]	APC (R1676G +25 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3063704	NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]	PMS2 (S523T +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1050781	NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)	POLE (E1459*)	Single nucleotide variant (nonsense)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1050780	NM_000251.3(MSH2):c.1760-3_2005+453del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050772	NM_000251.3(MSH2):c.1387-2del	MSH2	Deletion (splice acceptor variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 1050726	NM_000251.3(MSH2):c.-1_211+1177del	MSH2	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
Select item 1050723	NM_000251.3(MSH2):c.999dup (p.Lys334Ter)	MSH2 (K268* +1 more)	Duplication (nonsense)	Lynch syndrome 1	GPathogenic
Select item 1050722	NM_000038.6(APC):c.604del (p.Glu202fs)	APC (E143fs +3 more)	Deletion (frameshift variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050689	NM_000038.6(APC):c.3079del (p.Tyr1027fs)	APC (Y1002fs +12 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1050645	NM_000249.4(MLH1):c.1559-2_1667+1del	MLH1	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050635	NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)	SMAD4 (Q245*)	Single nucleotide variant (nonsense)	Carcinoma of colon	GPathogenic
Select item 1050620	NM_000179.3(MSH6):c.4001+11_4001+19del	MSH6	Deletion (intron variant)	Carcinoma of colon	GLikely benign
Select item 1050614	NM_000038.6(APC):c.4164_4165del (p.Ser1389fs)	APC (S1106fs +12 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1050611	NM_000038.6(APC):c.1313-2_1743+144del	APC	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050577	NM_000251.3(MSH2):c.1662-1_1759+1048del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050496	NM_002691.4(POLD1):c.-1-12C>T	POLD1	Single nucleotide variant (intron variant)	Carcinoma of colon	GUncertain significance
Select item 1050489	NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)	MLH1 (L232fs +5 more)	Indel (frameshift variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050476	NM_000038.6(APC):c.3026del (p.His1009fs)	APC (H1009fs +12 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1050449	NM_000038.6(APC):c.3847del (p.Ala1283fs)	APC (A1000fs +12 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
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 1050412	NM_001127511.3(APC):c.166-28469_166-27547del	APC	Deletion (intron variant)	Carcinoma of colon	GPathogenic
Select item 1050397	NM_000038.6(APC):c.6081C>T (p.Leu2027=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1050389	NM_000038.6(APC):c.2487del (p.Val830fs)	APC (V547fs +12 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1050353	NM_000179.3(MSH6):c.-2_260+3387del	LOC129933708, LOC129933707 +1 more	Deletion (splice donor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050316	NM_000038.6(APC):c.2928_2929del (p.Gly977fs)	APC (G694fs +12 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1050249	NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs)	MSH6 (G1162fs +2 more)	Duplication (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1050240	NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg)	MLH1 (G248R +5 more)	Single nucleotide variant (missense variant +1 more)	Carcinoma of colon	GUncertain significance
Select item 1050185	NM_000249.4(MLH1):c.1039-2_1409+150del	MLH1	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
Select item 1050133	NM_000038.6(APC):c.1046_1140del (p.Gln349fs)	APC (Q290fs +6 more)	Deletion (frameshift variant +1 more)	Carcinoma of colon	GPathogenic
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 1050102	NM_024675.4(PALB2):c.892_893del (p.Val298fs)	PALB2 (V298fs)	Deletion (frameshift variant)	Familial cancer of breast	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 1050060	NM_000455.5(STK11):c.734+14C>A	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
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 1050033	NM_000251.3(MSH2):c.212-2_366+1del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050028	NM_000038.6(APC):c.423-8A>G	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1050027	NM_000179.3(MSH6):c.3439-2_3556+1del	MSH6	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1050025	NM_000179.3(MSH6):c.457+1G>T	MSH6 (G153V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
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 1050017	NM_000249.4(MLH1):c.365del (p.Gly122fs)	MLH1 (G122fs +2 more)	Deletion (frameshift variant +1 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 1050000	NM_000251.3(MSH2):c.2444del (p.Tyr815fs)	MSH2 (Y749fs +1 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1049977	NM_000251.3(MSH2):c.2006-12T>G	MSH2	Single nucleotide variant (intron variant)	Carcinoma of colon	GUncertain significance
Select item 1049945	NM_000038.6(APC):c.1592C>G (p.Ala531Gly)	APC (A248G +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance
Select item 1049899	NM_000038.6(APC):c.423-3_531+198del	APC	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049891	NM_000038.6(APC):c.1374T>C (p.Phe458=)	APC	Single nucleotide variant (synonymous variant)	Carcinoma of colon	GUncertain significance
Select item 1049811	NM_000038.6(APC):c.194del (p.Gln65fs)	APC (Q40fs +3 more)	Deletion (frameshift variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049809	NM_000535.7(PMS2):c.2506del (p.Glu836fs)	PMS2 (E525fs +9 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1049792	NM_000179.3(MSH6):c.3554_3556+2del	MSH6	Deletion (splice donor variant)	Lynch syndrome 5	GLikely pathogenic
Select item 1049786	NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro)	CDH1 (L121P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1049778	NM_000038.6(APC):c.-2_135+1824del	APC	Deletion (splice donor variant +2 more)	Malignant tumor of breast +1 more	GPathogenic
Select item 1049772	NM_000038.6(APC):c.1409-2del	APC	Deletion (splice acceptor variant)	Carcinoma of colon	GPathogenic
Select item 1049770	NM_000179.3(MSH6):c.1982del (p.Gly661fs)	MSH6 (G359fs +2 more)	Deletion (frameshift variant)	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 1049740	NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)	MLH1 (T111I +5 more)	Single nucleotide variant (missense variant)	Carcinoma of colon	GLikely pathogenic
Select item 1049679	NM_007294.4(BRCA1):c.1431A>G (p.Val477=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Carcinoma of colon	GLikely benign
Select item 1049673	NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)	MLH1	Deletion (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 1049670	NM_000249.4(MLH1):c.1896+1G>C	MLH1	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1049669	NM_000038.6(APC):c.4142C>G (p.Pro1381Arg)	APC (P1098R +12 more)	Single nucleotide variant (missense variant)	Carcinoma of colon	GUncertain significance
Select item 1049610	NM_000535.7(PMS2):c.1145-1_2006+2del	PMS2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049605	NM_000059.4(BRCA2):c.8488-15A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1049579	NM_000038.6(APC):c.4138A>G (p.Thr1380Ala)	APC (T1097A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance
Select item 1049576	NM_007294.4(BRCA1):c.5194-1_5277+2del	BRCA1	Deletion (splice acceptor variant +1 more)	Carcinoma of colon +2 more	GPathogenic
Select item 1049574	NM_000038.6(APC):c.1259_1269del (p.Cys420fs)	APC (C137fs +10 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1049552	NM_024675.4(PALB2):c.941A>G (p.Gln314Arg)	PALB2 (Q314R)	Single nucleotide variant (missense variant)	Carcinoma of colon	GUncertain significance
Select item 1049508	NM_000249.4(MLH1):c.631_632del (p.Ser211fs)	MLH1 (S113fs +2 more)	Deletion (frameshift variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049497	NM_000038.6(APC):c.1744-2_1958+1del	APC	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049470	NM_000179.3(MSH6):c.3557-3_3573del	MSH6	Deletion (splice acceptor variant)	Carcinoma of colon	GLikely pathogenic
Select item 1049418	NM_000535.7(PMS2):c.368del (p.Ser123fs)	PMS2 (S123fs +2 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4	GPathogenic
Select item 1049395	NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp)	MLH1 (N144D +5 more)	Single nucleotide variant (missense variant)	Carcinoma of colon	GUncertain significance
Select item 1049393	NM_000179.3(MSH6):c.458-2_627+1del	MSH6	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
Select item 1049369	NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)	MSH6 (E317* +2 more)	Single nucleotide variant (nonsense)	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 1049344	NM_000251.3(MSH2):c.2006-2_2210+1del	MSH2	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049335	NM_000038.6(APC):c.220+3A>G	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1049248	NM_000249.4(MLH1):c.1039-2_1409+1del	MLH1	Deletion (splice acceptor variant +2 more)	Carcinoma of colon	GPathogenic
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 1049167	NM_002354.3(EPCAM):c.556-3_657+288del	EPCAM	Deletion (splice acceptor variant +1 more)	Carcinoma of colon	GPathogenic
Select item 1049101	NM_000179.3(MSH6):c.1089dup (p.Val364fs)	MSH6 (V234fs +2 more)	Duplication (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 1049077	NM_000038.6(APC):c.2893_2896del (p.Asn965fs)	APC (N682fs +12 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1049076	NM_000038.6(APC):c.-2_136-2903del	APC	Deletion (splice donor variant +2 more)	Carcinoma of colon +1 more	GPathogenic
Select item 1049059	NM_000179.3(MSH6):c.167G>T (p.Gly56Val)	MSH6 (G56V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1048973	NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)	MLH1 (E396fs +8 more)	Duplication (frameshift variant)	Carcinoma of colon	GLikely pathogenic
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 1048895	NM_000249.4(MLH1):c.908T>G (p.Val303Gly)	MLH1 (V205G +3 more)	Single nucleotide variant (missense variant +2 more)	Carcinoma of colon	GUncertain significance
Select item 1048888	NM_000249.4(MLH1):c.2131dup (p.Ser711fs)	MLH1 (S353fs +8 more)	Duplication (frameshift variant)	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 1048814	NM_000251.3(MSH2):c.459del (p.Ala154fs)	MSH2 (A154fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1	GPathogenic
Select item 1022660	NM_000038.6(APC):c.2789C>T (p.Thr930Ile)	APC (T647I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance
Select item 1020631	NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg)	POLE (S1520R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1012025	NM_000179.3(MSH6):c.1600A>G (p.Asn534Asp)	MSH6 (N232D +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1007445	NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro)	PALB2 (S574P)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 959922	NM_006231.4(POLE):c.579-2A>G	POLE	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 927533	NM_000249.4(MLH1):c.1573T>C (p.Leu525=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 925898	NM_000314.8(PTEN):c.450G>A (p.Glu150=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +2 more	GLikely benign
Select item 923196	NM_000179.3(MSH6):c.394_395del (p.Gln132fs)	MSH6 (Q132fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 921420	NM_000051.4(ATM):c.3403-14A>G	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 864690	NM_000038.6(APC):c.6271G>A (p.Gly2091Ser)	APC (G1808S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance
Select item 836593	NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)	C11orf65, ATM	Single nucleotide variant (stop lost +1 more)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 830185	NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu)	PALB2 (P1009L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance

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