"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PMS2"[gene - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142688	NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)	PMS2 (I853M +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 480318	NM_000535.7(PMS2):c.2517C>T (p.His839=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 699923	NM_000535.7(PMS2):c.2496C>T (p.Thr832=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 1791552	NM_000535.7(PMS2):c.2456G>A (p.Gly819Glu)	PMS2 (G771E +28 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 234604	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colon cancer +7 more	GPathogenic/Likely pathogenic
Select item 184485	NM_000535.7(PMS2):c.2445G>A (p.Ser815=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 418793	NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln)	PMS2 (R813Q +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 940972	NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly)	PMS2 (R619G +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 142421	NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)	PMS2 (L786M +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 36689	NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	PMS2 (N775S +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 127777	NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)	PMS2 (E763G +9 more)	Single nucleotide variant (missense variant)	Lynch syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 510820	NM_000535.7(PMS2):c.2274T>C (p.Asn758=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 220273	NM_000535.7(PMS2):c.2265C>T (p.Ile755=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 36688	NM_000535.7(PMS2):c.2253T>C (p.Phe751=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 91334	NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)	PMS2 (G750D +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colon cancer +5 more	GConflicting classifications of pathogenicity
Select item 91331	NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)	PMS2 (L420fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 138703	NM_000535.7(PMS2):c.2187C>G (p.Leu729=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 91330	NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	PMS2 (L538fs +7 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome	GUncertain significance
Select item 91329	NM_000535.7(PMS2):c.2174+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GPathogenic
Select item 41709	NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	PMS2 (V717M +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 186681	NM_000535.7(PMS2):c.2148C>T (p.Thr716=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 194001	NM_000535.7(PMS2):c.2127C>T (p.Phe709=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 91328	NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	PMS2 (E705K +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +6 more	GPathogenic/Likely pathogenic
Select item 127770	NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	PMS2 (T671M +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +6 more	GConflicting classifications of pathogenicity
Select item 91321	NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	PMS2 (K647* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 41708	NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)	PMS2 (M622I +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91317	NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	PMS2 (I476fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 188287	NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)	PMS2 (K610E +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 932626	NM_000535.7(PMS2):c.1801T>C (p.Ser601Pro)	PMS2 (S466P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41707	NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	PMS2 (T597S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GBenign
Select item 646894	NM_000535.7(PMS2):c.1776A>G (p.Gln592=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 183997	NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)	PMS2 (T573S +7 more)	Single nucleotide variant (missense variant +1 more)	PMS2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 186044	NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)	PMS2 (A572T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 455668	NM_000535.7(PMS2):c.1689A>G (p.Arg563=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 135940	NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)	PMS2 (R372Q +7 more)	Indel (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 141394	NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)	PMS2 (R563Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 41705	NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	PMS2 (R563L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 3067695	NM_000535.7(PMS2):c.1655A>T (p.His552Leu)	PMS2 (H241L +19 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 91306	NM_000535.7(PMS2):c.1569C>G (p.Ser523=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 127763	NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)	PMS2 (S523T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 138700	NM_000535.7(PMS2):c.1560G>A (p.Ala520=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 135939	NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)	PMS2 (Y519C +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 388558	NM_000535.7(PMS2):c.1536C>T (p.Gly512=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 127762	NM_000535.7(PMS2):c.1501G>A (p.Val501Met)	PMS2 (V501M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 220155	NM_000535.7(PMS2):c.1482G>A (p.Ser494=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 41701	NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	PMS2 (H479Q +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 231440	NM_000535.7(PMS2):c.1398C>T (p.Gly466=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 135935	NM_000535.7(PMS2):c.1368T>C (p.Ser456=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +5 more	GBenign/Likely benign
Select item 185217	NM_000535.7(PMS2):c.1344A>T (p.Gly448=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 232626	NM_000535.7(PMS2):c.1305C>T (p.His435=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 127758	NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)	PMS2 (R427C +7 more)	Single nucleotide variant (missense variant +1 more)	PMS2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 184994	NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)	PMS2 (A423G +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 216072	NM_000535.7(PMS2):c.1239dup (p.Asp414fs)	PMS2 (D103fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome +5 more	GPathogenic
Select item 184060	NM_000535.7(PMS2):c.1197G>A (p.Lys399=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 185100	NM_000535.7(PMS2):c.1170G>A (p.Ala390=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 632949	NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)	PMS2 (Q184del +5 more)	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 232382	NM_000535.7(PMS2):c.1116C>T (p.Val372=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 480337	NM_000535.7(PMS2):c.1084A>G (p.Met362Val)	PMS2 (M362V +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 91289	NM_000535.7(PMS2):c.1076dup (p.Leu359fs)	PMS2 (L253fs +5 more)	Duplication (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 525754	NM_000535.7(PMS2):c.1032G>C (p.Leu344Phe)	PMS2 (L344F +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 127751	NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	PMS2 (N335S +5 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +7 more	GConflicting classifications of pathogenicity
Select item 41722	NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)	PMS2 (Y318C +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 91382	NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)	PMS2 (R315* +5 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 480364	NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs)	PMS2 (E308fs +4 more)	Indel (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 230398	NM_000535.7(PMS2):c.795T>C (p.Asn265=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GLikely benign
Select item 231124	NM_000535.7(PMS2):c.789G>A (p.Leu263=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GBenign/Likely benign
Select item 91366	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	PMS2	Indel (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 127795	NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)	PMS2 (Q237L +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 184507	NM_000535.7(PMS2):c.687T>C (p.Ser229=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 141683	NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)	PMS2 (R211Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified +5 more	GUncertain significance
Select item 187514	NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)	PMS2 (R199C +3 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4 +6 more	GConflicting classifications of pathogenicity
Select item 948334	NM_000535.7(PMS2):c.538-1G>A	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 127791	NM_000535.7(PMS2):c.475G>A (p.Val159Met)	PMS2 (V159M +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +7 more	GConflicting classifications of pathogenicity
Select item 628203	NM_000535.7(PMS2):c.468A>T (p.Thr156=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 230165	NM_000535.7(PMS2):c.403C>G (p.Leu135Val)	PMS2 (L135V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 182816	NM_000535.7(PMS2):c.255G>A (p.Leu85=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 138705	NM_000535.7(PMS2):c.240C>T (p.Phe80=)	PMS2 (R9*)	Single nucleotide variant (synonymous variant +3 more)	PMS2-related condition +5 more	GBenign/Likely benign
Select item 411085	NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)	PMS2 (E77A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 185939	NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)	PMS2 (I66T)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 91315	NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)	PMS2 (D60E)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely benign
Select item 9245	NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	PMS2 (S46I)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 234593	NM_000535.7(PMS2):c.107G>A (p.Ser36Asn)	PMS2 (S36N)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 41721	NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	PMS2 (G29A)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 492295	NM_000535.7(PMS2):c.75G>A (p.Gln25=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 41713	NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	PMS2 (I18V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely benign
Select item 232589	NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)	PMS2 (A4G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2499066	GRCh37/hg19 7p22.1(chr7:6022454-6057676)x1	AIMP2, PMS2	Copy number loss	not provided	GPathogenic

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Items: 87