ClinVar for MedGen (Select 1748029) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1430435	NM_000251.3(MSH2):c.1216C>G (p.Arg406Gly)	MSH2 (R340G +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1404368	NM_000249.4(MLH1):c.816del (p.Arg273fs)	MLH1 (R240fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 1330188	GRCh37/hg19 2p16.3(chr2:48018016-48028344)x3	MSH6	Copy number gain	Mismatch repair cancer syndrome 1	GLikely pathogenic
Select item 1285420	NM_000179.3(MSH6):c.3685_3686insCCAA (p.Asn1229fs)	MSH6 (N1099fs +2 more)	Insertion (frameshift variant)	Mismatch repair cancer syndrome 1	GLikely pathogenic
Select item 1058380	NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly)	MLH1 (S234G +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1043401	NM_000249.4(MLH1):c.553G>A (p.Val185Ile)	MLH1 (V152I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1036341	NM_000249.4(MLH1):c.185A>G (p.Gln62Arg)	MLH1 (Q62R)	Single nucleotide variant (missense variant +2 more)	Mismatch repair cancer syndrome 1 +3 more	GUncertain significance
Select item 998234	NM_000179.3(MSH6):c.1438dup (p.Val480fs)	MSH6 (V178fs +2 more)	Duplication (frameshift variant)	Mismatch repair cancer syndrome 1	GPathogenic
Select item 977322	NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del	PMS2	Deletion	Mismatch repair cancer syndrome 1	GPathogenic
Select item 976084	NM_000535.7(PMS2):c.24-2A>C	PMS2	Single nucleotide variant (intron variant +1 more)	Mismatch repair cancer syndrome 1	GPathogenic
Select item 941211	NM_000249.4(MLH1):c.589-1G>A	MLH1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 931373	NM_000535.7(PMS2):c.2445+6T>C	PMS2	Single nucleotide variant (intron variant)	Mismatch repair cancer syndrome 1 +2 more	GUncertain significance
Select item 930973	NM_000535.7(PMS2):c.164-4C>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 930789	NM_000535.7(PMS2):c.964G>T (p.Val322Phe)	PMS2 (V11F +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 920311	NM_000179.3(MSH6):c.322T>C (p.Cys108Arg)	MSH6 (C108R)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 820971	NM_000249.4(MLH1):c.2254G>C (p.Val752Leu)	MLH1 (V411L +8 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 800866	NM_000535.7(PMS2):c.1145-31_1145-13del	PMS2	Deletion (intron variant)	Mismatch repair cancer syndrome 1	GUncertain significance
Select item 642710	NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	MLH1 (Y332* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 642117	NM_000249.4(MLH1):c.229T>G (p.Cys77Gly)	MLH1 (C77G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 639304	NM_000249.4(MLH1):c.842C>G (p.Ala281Gly)	MLH1 (A248G +3 more)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 1 +5 more	GUncertain significance
Select item 618211	NM_000249.4(MLH1):c.726G>A (p.Met242Ile)	MLH1 (M242I +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +5 more	GUncertain significance
Select item 580133	NM_000249.4(MLH1):c.885-1G>A	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 574635	NM_000251.3(MSH2):c.655dup (p.Arg219fs)	MSH2 (R153fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 525857	NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)	MSH6 (E1348A +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 525673	NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)	MLH1 (G351R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 525659	NM_000249.4(MLH1):c.649C>A (p.Arg217Ser)	MLH1 (R217S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 525630	NM_000535.7(PMS2):c.715C>T (p.Leu239Phe)	PMS2 (L239F +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 496039	NM_000535.7(PMS2):c.251-10T>A	PMS2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 492296	NM_000535.7(PMS2):c.75G>T (p.Gln25His)	PMS2 (Q25H)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 484292	NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)	PMS2 (K224N +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 483732	NM_000251.3(MSH2):c.464T>C (p.Val155Ala)	MSH2 (V155A +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 483545	NM_000249.4(MLH1):c.1896+5G>A	MLH1	Single nucleotide variant (intron variant)	Mismatch repair cancer syndrome 1 +6 more	GUncertain significance
Select item 480324	NM_000535.7(PMS2):c.1164del (p.His388fs)	PMS2 (H201fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 479867	NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)	MSH6 (K728R +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 479684	NM_000249.4(MLH1):c.53G>A (p.Arg18His)	MLH1 (R18H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 455457	NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)	MLH1 (A282T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 455205	NM_000179.3(MSH6):c.2515G>C (p.Asp839His)	MSH6 (D839H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 439201	NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)	MSH6 (R62C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GUncertain significance
Select item 421030	NM_000249.4(MLH1):c.-11C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 420921	NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)	MLH1 (A31T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 419197	NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)	MSH6 (T767S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 418758	NM_000535.7(PMS2):c.949C>A (p.Gln317Lys)	PMS2 (Q317K +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 418743	NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)	MSH6 (K545E +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 418300	NM_000249.4(MLH1):c.821A>G (p.Lys274Arg)	MLH1 (K274R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 411037	NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)	PMS2 (Q643R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 410450	NM_000179.3(MSH6):c.1270G>A (p.Val424Ile)	MSH6 (V424I +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +5 more	GUncertain significance
Select item 410435	NM_000179.3(MSH6):c.104C>T (p.Ala35Val)	MSH6 (A35V)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 405421	NM_000249.4(MLH1):c.1150G>A (p.Val384Ile)	MLH1 (V384I +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 393103	NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)	PMS2 (S459* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 383159	NM_000249.4(MLH1):c.1990-17G>C	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GLikely benign
Select item 374958	NM_000251.3(MSH2):c.942+29del	MSH2	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 265586	NM_000535.7(PMS2):c.2521del (p.Trp841fs)	PMS2 (W530fs +9 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 237924	NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)	PMS2 (P221L +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 237913	NM_000535.7(PMS2):c.353+6A>G	PMS2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 237335	NM_000249.4(MLH1):c.226G>A (p.Val76Ile)	MLH1 (V76I)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +8 more	GUncertain significance
Select item 234814	NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)	PMS2 (A110S)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +5 more	GUncertain significance
Select item 234813	NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)	PMS2 (E225D +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +6 more	GUncertain significance
Select item 234462	NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)	MSH6 (L1150F +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +4 more	GUncertain significance
Select item 234228	NM_000179.3(MSH6):c.3801+1G>T	MSH6	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely pathogenic
Select item 233592	NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)	PMS2 (P338A +5 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +4 more	GUncertain significance
Select item 233361	NM_000249.4(MLH1):c.242C>G (p.Thr81Ser)	MLH1 (T81S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 233100	NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)	PMS2 (D526N +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 232390	NM_000535.7(PMS2):c.825A>G (p.Gln275=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome +5 more	GPathogenic/Likely pathogenic
Select item 230486	NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)	PMS2 (A854T +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 230184	NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)	MLH1 (T270A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 230023	NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)	MSH2 (A609S +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 221123	NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)	MSH6 (F1104L +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 220796	NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)	MSH6 (S63P)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 220740	NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)	PMS2 (P794S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 220367	NM_000249.4(MLH1):c.650G>A (p.Arg217His)	MLH1 (R217H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 220186	NM_000249.4(MLH1):c.438A>G (p.Gln146=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 219961	NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)	MLH1 (S592N +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 219728	NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu)	MLH1 (G373E +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 219612	NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)	PMS2 (E518K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 219605	NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)	MSH2 (Q601R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 219577	NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)	MSH6 (G46R)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 216354	NM_000251.3(MSH2):c.2379G>T (p.Gln793His)	MSH2 (Q793H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 216341	NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)	MSH2 (I418M +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 216324	NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)	MSH6 (R302K +7 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 216296	NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)	MSH6 (G46R)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 187310	NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)	MLH1 (M524I +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 187103	NM_000251.3(MSH2):c.403C>G (p.Leu135Val)	MSH2 (L135V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 186981	NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)	MSH6 (T987A +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 186849	NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)	MSH2 (G126S +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 186843	NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)	MLH1 (G373R +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 185185	NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)	PMS2 (A520V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 184486	NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)	MLH1 (Y97C +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 183893	NM_000535.7(PMS2):c.251-2A>T	PMS2	Single nucleotide variant (synonymous variant +2 more)	Breast and/or ovarian cancer +7 more	GPathogenic/Likely pathogenic
Select item 183739	NM_000179.3(MSH6):c.2230dup (p.Glu744fs)	MSH6 (E442fs +2 more)	Duplication (frameshift variant)	MSH6-related condition +7 more	GPathogenic/Likely pathogenic
Select item 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	MSH6-related condition +8 more	GPathogenic/Likely pathogenic
Select item 183719	NM_000251.3(MSH2):c.2006-4G>A	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 182811	NM_000535.7(PMS2):c.506G>A (p.Arg169His)	PMS2 (R169H +3 more)	Single nucleotide variant (missense variant +2 more)	PMS2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 182809	NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	PMS2 (M1K)	Single nucleotide variant (missense variant +3 more)	PMS2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 182649	NM_000179.3(MSH6):c.3919A>C (p.Asn1307His)	MSH6 (N1307H +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 182576	NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	MSH2 (L128R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 182524	NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)	MLH1 (D415N +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 182518	NM_000249.4(MLH1):c.1039-3C>G	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 161299	NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	MSH2 (E643K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 142946	NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)	MLH1 (R497W +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity

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