ClinVar for PubMed (Select 21376568) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2982270	NM_000535.7(PMS2):c.427del (p.Ile143fs)	PMS2 (I143fs +5 more)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2866622	NM_000535.7(PMS2):c.1160dup (p.Met387fs)	PMS2 (M252fs +19 more)	Duplication (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2861020	NM_000535.7(PMS2):c.1264del (p.Glu422fs)	PMS2 (E111fs +19 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2853569	NM_000535.7(PMS2):c.787del (p.Leu263fs)	PMS2 (L128fs +10 more)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2842038	NM_000535.7(PMS2):c.1800del (p.Met600fs)	PMS2 (M465fs +19 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2833881	NM_000535.7(PMS2):c.353+2T>G	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 2816712	NM_000535.7(PMS2):c.2007dup (p.Lys670Ter)	PMS2 (K269* +20 more)	Duplication (nonsense +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2811091	NM_000535.7(PMS2):c.1774C>T (p.Gln592Ter)	PMS2 (Q401* +19 more)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2810009	NM_000535.7(PMS2):c.308del (p.Thr103fs)	PMS2 (T111fs +2 more)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2809637	NM_000535.7(PMS2):c.380dup (p.Ser128fs)	PMS2 (S190fs +4 more)	Duplication (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2771522	NM_000535.7(PMS2):c.1915del (p.Ser639fs)	PMS2 (S448fs +19 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2765345	NM_000535.7(PMS2):c.66_69del (p.Val23fs)	PMS2 (V23fs +1 more)	Microsatellite (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2754121	NM_000535.7(PMS2):c.2118_2120dup (p.Tyr707Ter)	PMS2 (Y306* +20 more)	Duplication (nonsense +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2751205	NM_000535.7(PMS2):c.367dup (p.Ser123fs)	PMS2 (S123fs +4 more)	Duplication (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2749817	NM_000535.7(PMS2):c.2339_2343del (p.Pro780fs)	PMS2 (P469fs +28 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2734970	NM_000535.7(PMS2):c.537+1G>T	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2718740	NM_000535.7(PMS2):c.481C>T (p.Gln161Ter)	PMS2 (Q169* +5 more)	Single nucleotide variant (nonsense +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2716812	NM_000535.7(PMS2):c.1537del (p.Ser513fs)	PMS2 (S358fs +19 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2712897	NM_000535.7(PMS2):c.122del (p.Glu41fs)	PMS2 (E103fs +1 more)	Deletion (5 prime UTR variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2707990	NM_000535.7(PMS2):c.239_250+2del	PMS2	Deletion (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 2698533	NM_000535.7(PMS2):c.550del (p.Met184fs)	PMS2 (M246fs +5 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2694406	NM_000535.7(PMS2):c.176dup (p.Asp60fs)	PMS2 (D60fs +1 more)	Duplication (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2677919	NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)	PMS2	Duplication (frameshift variant +3 more)	Lynch syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2677905	NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)	PMS2 (G110* +10 more)	Single nucleotide variant (nonsense +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic/Likely pathogenic
Select item 2674264	NM_000535.7(PMS2):c.503dup (p.Arg169fs)	PMS2 (R169fs +5 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 2674239	NM_000535.7(PMS2):c.1048del (p.Leu350fs)	PMS2 (L159fs +14 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 2674223	NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)	PMS2 (S195* +5 more)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2674204	NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)	PMS2 (Q102* +6 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 2451606	NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)	PMS2 (E109fs +2 more)	Insertion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2447020	NM_000535.7(PMS2):c.630dup (p.Arg211fs)	PMS2 (R108fs +6 more)	Duplication (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2423258	NC_000007.13:g.(?_6018217)_(6022632_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2423254	NC_000007.13:g.(?_6042074)_(6042321_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2181110	NM_000535.7(PMS2):c.2161C>T (p.Gln721Ter)	PMS2 (Q563* +20 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2135280	NM_000535.7(PMS2):c.2098C>T (p.Gln700Ter)	PMS2 (Q443* +20 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2127113	NM_000535.7(PMS2):c.180del (p.Tyr61fs)	PMS2 (Y61fs)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2126985	NM_000535.7(PMS2):c.1035dup (p.Gln346fs)	PMS2 (Q155fs +5 more)	Duplication (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2112657	NM_000535.7(PMS2):c.1587dup (p.Gln530fs)	PMS2 (Q339fs +7 more)	Duplication (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2098427	NM_000535.7(PMS2):c.564dup (p.His189fs)	PMS2 (H189fs +3 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2045789	NM_000535.7(PMS2):c.1826_1827del (p.Val609fs)	PMS2 (V298fs +7 more)	Microsatellite (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2031269	NM_000535.7(PMS2):c.2039del (p.Gly680fs)	PMS2 (G489fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2027772	NM_000535.7(PMS2):c.1853del (p.Leu618fs)	PMS2 (L427fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2020501	NM_000535.7(PMS2):c.796_797del (p.Leu266fs)	PMS2 (L163fs +4 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2011770	NM_000535.7(PMS2):c.353+2T>A	PMS2	Single nucleotide variant (intron variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 2011669	NM_000535.7(PMS2):c.706-73_748del	PMS2	Deletion (splice acceptor variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 2008173	NM_000535.7(PMS2):c.547A>T (p.Lys183Ter)	PMS2 (K48* +5 more)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2002192	NM_000535.7(PMS2):c.457A>T (p.Arg153Ter)	PMS2 (R161* +5 more)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2000328	NM_000535.7(PMS2):c.349_350del (p.Leu117fs)	PMS2 (L117fs)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1995990	NM_000535.7(PMS2):c.1595_1596del (p.His532fs)	PMS2 (H426fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1994070	NM_000535.7(PMS2):c.54del (p.Ile18fs)	PMS2 (I18fs)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1929395	NM_000535.7(PMS2):c.250+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 1929394	NM_000535.7(PMS2):c.989-1G>A	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1916358	NM_000535.7(PMS2):c.1577del (p.Asp526fs)	PMS2 (D335fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 1788949	NM_000535.7(PMS2):c.2281del (p.Val761fs)	PMS2 (V570fs +9 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 1787144	NM_000535.7(PMS2):c.2174+1G>T	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1786092	NM_000535.7(PMS2):c.211_214del (p.Asn71fs)	PMS2 (N71fs)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 1777585	NM_000535.7(PMS2):c.1052del (p.Leu351fs)	PMS2 (L248fs +5 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1763720	NM_000535.7(PMS2):c.852_855del (p.Arg287fs)	PMS2 (R152fs +4 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1761767	NM_000535.7(PMS2):c.804-1G>T	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1761572	NM_000535.7(PMS2):c.79del (p.Cys27fs)	PMS2 (C27fs)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 1761481	NM_000535.7(PMS2):c.1254del (p.Arg419fs)	PMS2 (R313fs +7 more)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1756960	NM_000535.7(PMS2):c.706-1G>T	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome +3 more	GLikely pathogenic
Select item 1747104	NM_000535.7(PMS2):c.537+2T>C	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1745933	NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)	PMS2 (K237fs +5 more)	Insertion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 1745665	NM_000535.7(PMS2):c.514G>T (p.Glu172Ter)	PMS2 (E37* +5 more)	Single nucleotide variant (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1745351	NM_000535.7(PMS2):c.51_55del (p.Ile18fs)	PMS2 (I18fs)	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 1735810	NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)	PMS2	Indel (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1526382	NM_000535.7(PMS2):c.1154del (p.Ile385fs)	PMS2 (I194fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1517684	NM_000535.7(PMS2):c.23+2T>G	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 1510926	NC_000007.13:g.(?_6018217)_(6022632_?)dup	PMS2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1505903	NM_000535.7(PMS2):c.904-1G>A	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely pathogenic
Select item 1502245	NM_000535.7(PMS2):c.354-41_514del	PMS2 (G2fs)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 1499988	NM_000535.7(PMS2):c.988+1G>C	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1459392	NM_000535.7(PMS2):c.2007-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 1459232	NC_000007.13:g.(?_6035155)_(6049099_?)del	AIMP2, PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1459207	NM_000535.7(PMS2):c.987dup (p.Glu330fs)	PMS2 (E139fs +7 more)	Duplication (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1458829	NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)	PMS2 (E2*)	Single nucleotide variant (5 prime UTR variant +2 more)	Lynch syndrome 4 +2 more	GPathogenic
Select item 1458544	NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)	PMS2 (F514fs +7 more)	Insertion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 1456296	NM_000535.7(PMS2):c.732del (p.Gln244fs)	PMS2 (Q244fs +4 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1456153	NM_000535.7(PMS2):c.986C>A (p.Ser329Ter)	PMS2 (S194* +5 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1455079	NC_000007.13:g.(?_6038729)_(6049099_?)del	AIMP2, PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1455078	NC_000007.13:g.(?_6045513)_(6049099_?)del	AIMP2, PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1454462	NM_000535.7(PMS2):c.391del (p.Val131fs)	PMS2 (V131fs +2 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1453828	NM_000535.7(PMS2):c.1273_1274insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGCCTTTT (p.Ser425delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)	PMS2	Microsatellite (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1451259	NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)	PMS2 (Q555* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1448242	NM_000535.7(PMS2):c.663del (p.Ser222fs)	PMS2 (S116fs +3 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 4 +1 more	GPathogenic
Select item 1442211	NM_000535.7(PMS2):c.205del (p.Ser69fs)	PMS2 (S69fs)	Deletion (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1437008	NM_000535.7(PMS2):c.239_242dup (p.Glu81fs)	PMS2 (E81fs +1 more)	Duplication (5 prime UTR variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1429568	NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)	PMS2 (Q594* +9 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 4 +2 more	GPathogenic
Select item 1411804	NM_000535.7(PMS2):c.869del (p.Phe290fs)	PMS2 (F155fs +4 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 4 +2 more	GPathogenic
Select item 1408831	NM_000535.7(PMS2):c.452_456del (p.Arg151fs)	PMS2 (R16fs +3 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1408521	NM_000535.7(PMS2):c.92_99del (p.Val31fs)	PMS2 (V31fs)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1406959	NM_000535.7(PMS2):c.12dup (p.Glu5Ter)	PMS2 (E5*)	Duplication (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1404626	NM_000535.7(PMS2):c.1924del (p.Glu642fs)	PMS2 (E539fs +7 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1395121	NC_000007.13:g.(?_6026815)_(6032194_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1384204	NC_000007.13:g.(?_6043311)_(6049099_?)del	AIMP2, PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1380389	NM_000535.7(PMS2):c.1750del (p.Ile584fs)	PMS2 (I273fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1367865	NM_000535.7(PMS2):c.713del (p.Ser238fs)	PMS2 (S132fs +4 more)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1356456	NM_000535.7(PMS2):c.954T>A (p.Tyr318Ter)	PMS2 (Y7* +5 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1355763	NC_000007.13:g.(?_6045672)_(6054968_?)del	AIMP2, PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1353796	NC_000007.13:g.(?_6031594)_(6037064_?)del	PMS2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic

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