"Color Diagnostics, LLC DBA Color Health"[submitter] AND "PMS2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 185828	NM_000535.7(PMS2):c.*3G>A	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2774116	NM_000535.7(PMS2):c.*2C>G	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 411040	NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)	PMS2	Single nucleotide variant (stop lost +1 more)	Lynch syndrome 4 +3 more	GUncertain significance
Select item 1083953	NM_000535.7(PMS2):c.2586C>T (p.Asn862=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 36691	NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)	PMS2 (G857A +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 220363	NM_000535.7(PMS2):c.2565C>T (p.Asn855=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 2774117	NM_000535.7(PMS2):c.2559C>A (p.Ile853=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 184059	NM_000535.7(PMS2):c.2559C>T (p.Ile853=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 142688	NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)	PMS2 (I853M +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 1792847	NM_000535.7(PMS2):c.2542C>T (p.Pro848Ser)	PMS2 (P447S +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 215757	NM_000535.7(PMS2):c.2538A>G (p.Gly846=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2774118	NM_000535.7(PMS2):c.2533C>T (p.His845Tyr)	PMS2 (H444Y +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1025179	NM_000535.7(PMS2):c.2531C>G (p.Pro844Arg)	PMS2 (P533R +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 548754	NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu)	PMS2 (P840L +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +1 more	GUncertain significance
Select item 480318	NM_000535.7(PMS2):c.2517C>T (p.His839=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 821394	NM_000535.7(PMS2):c.2509A>T (p.Met837Leu)	PMS2 (M731L +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 821405	NM_000535.7(PMS2):c.2506G>A (p.Glu836Lys)	PMS2 (E645K +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 719289	NM_000535.7(PMS2):c.2505G>T (p.Gly835=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 455701	NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu)	PMS2 (G835E +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 1792283	NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)	PMS2 (G596W +28 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 141280	NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)	PMS2 (M710fs +9 more)	Indel (frameshift variant +1 more)	Hereditary nonpolyposis colon cancer +4 more	GPathogenic
Select item 962200	NM_000535.7(PMS2):c.2500A>C (p.Met834Leu)	PMS2 (M523L +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 699923	NM_000535.7(PMS2):c.2496C>T (p.Thr832=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2774119	NM_000535.7(PMS2):c.2492T>A (p.Ile831Asn)	PMS2 (I520N +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2471022	NM_000535.7(PMS2):c.2480T>G (p.Met827Arg)	PMS2 (M640R +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1791921	NM_000535.7(PMS2):c.2480T>C (p.Met827Thr)	PMS2 (M570T +28 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +1 more	GUncertain significance
Select item 577398	NM_000535.7(PMS2):c.2478G>C (p.Glu826Asp)	PMS2 (E826D +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142929	NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)	PMS2 (E826K +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 237910	NM_000535.7(PMS2):c.2469C>T (p.Asn823=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 1920878	NM_000535.7(PMS2):c.2464_2466delinsGTC (p.Leu822Val)	PMS2 (L421V +28 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 36690	NM_000535.7(PMS2):c.2466T>C (p.Leu822=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 1329000	NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly)	PMS2 (A510G +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
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 2064042	NM_000535.7(PMS2):c.2446G>C (p.Val816Leu)	PMS2 (V415L +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 1791399	NM_000535.7(PMS2):c.2446G>A (p.Val816Met)	PMS2 (V415M +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 2036952	NM_000535.7(PMS2):c.2446-10T>G	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2719329	NM_000535.7(PMS2):c.2446-15G>T	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 184485	NM_000535.7(PMS2):c.2445G>A (p.Ser815=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 91343	NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	PMS2 (S815L +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 418793	NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln)	PMS2 (R813Q +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 142715	NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)	PMS2 (R813L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 127783	NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)	PMS2 (R813W +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 821246	NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)	PMS2 (A617T +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2774120	NM_000535.7(PMS2):c.2421del (p.Phe807fs)	PMS2 (F496fs +28 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1790983	NM_000535.7(PMS2):c.2419T>C (p.Phe807Leu)	PMS2 (F685L +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1475053	NM_000535.7(PMS2):c.2416A>G (p.Met806Val)	PMS2 (M619V +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 142572	NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)	PMS2 (K804N +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 1560235	NM_000535.7(PMS2):c.2409C>A (p.Val803=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 127782	NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln)	PMS2 (R799Q +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 91340	NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)	PMS2 (R799W +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1790499	NM_000535.7(PMS2):c.2386G>T (p.Val796Phe)	PMS2 (V395F +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127781	NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)	PMS2 (V796I +9 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GUncertain significance
Select item 231217	NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg)	PMS2 (P794R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 220740	NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)	PMS2 (P794S +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 221164	NM_000535.7(PMS2):c.2373C>T (p.Ser791=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 480330	NM_000535.7(PMS2):c.2367G>A (p.Met789Ile)	PMS2 (M789I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1790223	NM_000535.7(PMS2):c.2366T>G (p.Met789Arg)	PMS2 (M697R +28 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 821158	NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)	PMS2 (M478L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 184746	NM_000535.7(PMS2):c.2358G>C (p.Leu786=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 142421	NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)	PMS2 (L786M +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 127780	NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)	PMS2 (D784N +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 185820	NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)	PMS2 (V783I +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 378882	NM_000535.7(PMS2):c.2346C>T (p.Asp782=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 91337	NM_000535.7(PMS2):c.2340C>T (p.Pro780=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 969478	NM_000535.7(PMS2):c.2338C>T (p.Pro780Ser)	PMS2 (P589S +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 422851	NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr)	PMS2 (P780T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 127778	NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg)	PMS2 (G779R +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 379017	NM_000535.7(PMS2):c.2334C>T (p.Phe778=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 411065	NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser)	PMS2 (T777S +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
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 733240	NM_000535.7(PMS2):c.2307C>T (p.Ser769=)	PMS2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 1789328	NM_000535.7(PMS2):c.2303T>G (p.Ile768Ser)	PMS2 (I597S +26 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 821042	NM_000535.7(PMS2):c.2290A>C (p.Arg764=)	PMS2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 1788963	NM_000535.7(PMS2):c.2282T>C (p.Val761Ala)	PMS2 (V626A +26 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1636626	NM_000535.7(PMS2):c.2276-14T>C	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 664878	NM_000535.7(PMS2):c.2275+1G>C	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 234439	NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)	PMS2 (D756N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
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 41710	NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)	PMS2 (I755T +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 230882	NM_000535.7(PMS2):c.2260G>A (p.Val754Ile)	PMS2 (V754I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 2774121	NM_000535.7(PMS2):c.2253_2254inv (p.Asp752Asn)	PMS2 (D441N +21 more)	Inversion (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1788199	NM_000535.7(PMS2):c.2236T>C (p.Phe746Leu)	PMS2 (F591L +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 548763	NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)	PMS2 (V738F +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 1787688	NM_000535.7(PMS2):c.2205T>G (p.Asn735Lys)	PMS2 (N544K +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2774122	NM_000535.7(PMS2):c.2175-1G>T	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 548762	NM_000535.7(PMS2):c.2175-11G>T	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127775	NM_000535.7(PMS2):c.2174+6T>C	PMS2	Single nucleotide variant (intron variant)	Mismatch repair cancer syndrome 4 +4 more	GUncertain significance
Select item 439242	NM_000535.7(PMS2):c.2174+3G>C	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 185339	NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)	PMS2 (A725V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 566185	NM_000535.7(PMS2):c.2172A>G (p.Ile724Met)	PMS2 (I724M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 455689	NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro)	PMS2 (L723P +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +3 more	GUncertain significance
Select item 1787003	NM_000535.7(PMS2):c.2167C>A (p.Leu723Ile)	PMS2 (L322I +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 215756	NM_000535.7(PMS2):c.2166G>A (p.Arg722=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 183894	NM_000535.7(PMS2):c.2160G>A (p.Gly720=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GBenign/Likely benign
Select item 142576	NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)	PMS2 (Q719R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance

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