"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2774123	NM_000535.7(PMS2):c.2006G>A (p.Ser669Asn)	PMS2 (S478N +22 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +2 more	GUncertain significance
Select item 127769	NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)	PMS2 (E667K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 1784071	NM_000535.7(PMS2):c.1997A>G (p.Lys666Arg)	PMS2 (K475R +19 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 455676	NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)	PMS2 (E661K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 184644	NM_000535.7(PMS2):c.1980C>T (p.Ala660=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 480367	NM_000535.7(PMS2):c.1964G>A (p.Gly655Glu)	PMS2 (G655E +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +1 more	GUncertain significance
Select item 418419	NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)	PMS2 (G655R +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GUncertain significance
Select item 1783334	NM_000535.7(PMS2):c.1957del (p.Cys653fs)	PMS2 (C342fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 187540	NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe)	PMS2 (I652F +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 569742	NM_000535.7(PMS2):c.1953G>T (p.Lys651Asn)	PMS2 (K651N +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 237896	NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)	PMS2 (K651R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 183780	NM_000535.7(PMS2):c.1944T>C (p.Phe648=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
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 127768	NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)	PMS2 (R646M +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 135941	NM_000535.7(PMS2):c.1936A>C (p.Arg646=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 186598	NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys)	PMS2 (Y645C +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 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 91320	NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)	PMS2 (Q643* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 820348	NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys)	PMS2 (E451K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2119730	NM_000535.7(PMS2):c.1910A>C (p.Gln637Pro)	PMS2 (Q326P +19 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +1 more	GUncertain significance
Select item 188248	NM_000535.7(PMS2):c.1901A>G (p.His634Arg)	PMS2 (H634R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1913625	NM_000535.7(PMS2):c.1883G>C (p.Arg628Pro)	PMS2 (R371P +19 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 127767	NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)	PMS2 (R628Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3070540	NM_000535.7(PMS2):c.1882C>A (p.Arg628=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 91319	NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro)	PMS2 (A626P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1051125	NM_000535.7(PMS2):c.1846G>T (p.Val616Leu)	PMS2 (V305L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 484288	NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg)	PMS2 (K614R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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)	Breast-ovarian cancer, familial, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 188154	NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)	PMS2 (V607I +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 640333	NM_000535.7(PMS2):c.1810C>A (p.Gln604Lys)	PMS2 (Q501K +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GUncertain significance
Select item 234015	NM_000535.7(PMS2):c.1806C>G (p.Ala602=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GBenign/Likely benign
Select item 2089998	NM_000535.7(PMS2):c.1802C>T (p.Ser601Leu)	PMS2 (S290L +19 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 548758	NM_000535.7(PMS2):c.1798A>G (p.Met600Val)	PMS2 (M600V +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 486922	NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)	PMS2 (D599G +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 566405	NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)	PMS2 (T597A +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 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 234673	NM_000535.7(PMS2):c.1778del (p.Lys593fs)	PMS2 (K402fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic/Likely pathogenic
Select item 836093	NM_000535.7(PMS2):c.1774C>G (p.Gln592Glu)	PMS2 (Q281E +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 418854	NM_000535.7(PMS2):c.1765G>C (p.Asp589His)	PMS2 (D589H +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 421757	NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)	PMS2 (S587I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 91313	NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)	PMS2 (L585I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 91312	NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)	PMS2 (K580* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 1082809	NM_000535.7(PMS2):c.1734T>A (p.Arg578=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +2 more	GLikely benign
Select item 389556	NM_000535.7(PMS2):c.1731G>A (p.Lys577=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 185184	NM_000535.7(PMS2):c.1729A>G (p.Lys577Glu)	PMS2 (K577E +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 484250	NM_000535.7(PMS2):c.1727C>T (p.Thr576Ile)	PMS2 (T576I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 230549	NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)	PMS2 (P574A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 232923	NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)	PMS2 (T573N +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GUncertain significance
Select item 183997	NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)	PMS2 (T573S +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 187471	NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)	PMS2 (A572V +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GUncertain significance
Select item 186044	NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)	PMS2 (A572T +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 230015	NM_000535.7(PMS2):c.1713C>T (p.Leu571=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 665215	NM_000535.7(PMS2):c.1708A>C (p.Asn570His)	PMS2 (N464H +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 185029	NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)	PMS2 (T569A +7 more)	Single nucleotide variant (missense variant +1 more)	PMS2-related disorder +4 more	GUncertain significance
Select item 237892	NM_000535.7(PMS2):c.1703C>T (p.Pro568Leu)	PMS2 (P568L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 237891	NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln)	PMS2 (P568Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 224585	NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)	PMS2 (P568R +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GUncertain significance
Select item 1692458	NM_000535.7(PMS2):c.1697C>T (p.Pro566Leu)	PMS2 (P460L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +1 more	GUncertain significance
Select item 922526	NM_000535.7(PMS2):c.1694T>C (p.Leu565Ser)	PMS2 (L254S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +1 more	GUncertain significance
Select item 455668	NM_000535.7(PMS2):c.1689A>G (p.Arg563=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +4 more	GBenign/Likely benign
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 230426	NM_000535.7(PMS2):c.1687C>A (p.Arg563=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 135067	NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	PMS2 (R563* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome +6 more	GPathogenic
Select item 419597	NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)	PMS2 (F562L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 455666	NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)	PMS2 (C560Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 411046	NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg)	PMS2 (G559R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 1777755	NM_000535.7(PMS2):c.1674C>G (p.Thr558=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome +1 more	GLikely benign
Select item 229672	NM_000535.7(PMS2):c.1674C>T (p.Thr558=)	PMS2	Single nucleotide variant (non-coding transcript variant +1 more)	Lynch syndrome +4 more	GBenign/Likely benign
Select item 1777744	NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)	PMS2 (T247S +19 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 422983	NM_000535.7(PMS2):c.1672A>G (p.Thr558Ala)	PMS2 (T558A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 492267	NM_000535.7(PMS2):c.1671T>C (p.Asp557=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 232461	NM_000535.7(PMS2):c.1668A>G (p.Glu556=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 492265	NM_000535.7(PMS2):c.1647G>A (p.Val549=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 480940	NM_000535.7(PMS2):c.1646T>G (p.Val549Gly)	PMS2 (V549G +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3074526	NM_000535.7(PMS2):c.1643A>T (p.Asp548Val)	PMS2 (D237V +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 480321	NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)	PMS2 (S545C +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184497	NM_000535.7(PMS2):c.1629C>T (p.Asp543=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +3 more	GBenign/Likely benign
Select item 484315	NM_000535.7(PMS2):c.1626T>C (p.Thr542=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +1 more	GLikely benign
Select item 1318589	NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro)	PMS2 (T231P +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 135065	NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)	PMS2 (K541E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 480353	NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)	PMS2 (A539V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 127764	NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)	PMS2	Duplication (inframe_insertion +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 486936	NM_000535.7(PMS2):c.1595A>G (p.His532Arg)	PMS2 (H532R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184812	NM_000535.7(PMS2):c.1587G>A (p.Ser529=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 230822	NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu)	PMS2 (S529L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 3073783	NM_000535.7(PMS2):c.1585T>A (p.Ser529Thr)	PMS2 (S218T +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 921468	NM_000535.7(PMS2):c.1582G>A (p.Gly528Ser)	PMS2 (G337S +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 186139	NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)	PMS2 (D526Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 1346821	NM_000535.7(PMS2):c.1575G>T (p.Gly525=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +2 more	GConflicting classifications of pathogenicity
Select item 525934	NM_000535.7(PMS2):c.1572A>G (p.Pro524=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 492258	NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu)	PMS2 (P524L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +1 more	GConflicting classifications of pathogenicity
Select item 237889	NM_000535.7(PMS2):c.1569C>T (p.Ser523=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 138700	NM_000535.7(PMS2):c.1560G>A (p.Ala520=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +6 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 cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
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 490093	NM_000535.7(PMS2):c.1551C>T (p.Ser517=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 142461	NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)	PMS2 (S517R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 381492	NM_000535.7(PMS2):c.1533G>T (p.Thr511=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign

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