"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91278	NM_000535.7(PMS2):c.*92dup	PMS2	Duplication (3 prime UTR variant +1 more)	Lynch syndrome	GBenign
Select item 91277	NM_000535.7(PMS2):c.*17G>C	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Lynch syndrome	GBenign
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 265586	NM_000535.7(PMS2):c.2521del (p.Trp841fs)	PMS2 (W530fs +9 more)	Deletion (frameshift variant +1 more)	Mismatch repair cancer syndrome 1 +4 more	GPathogenic/Likely pathogenic
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 234604	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 142715	NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)	PMS2 (R813L +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 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 2428549	NM_000535.7(PMS2):c.2276-19C>A	PMS2 (Q629K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely 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 1330898	NM_000535.7(PMS2):c.2174+1105C>T	PMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291227	NM_000535.7(PMS2):c.2174+1097_2174+1099delinsACC	PMS2	Indel (intron variant)	not provided	GBenign
Select item 231993	NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)	PMS2 (Q719* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colon cancer +4 more	GPathogenic
Select item 41709	NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	PMS2 (V717M +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +8 more	GConflicting classifications of pathogenicity
Select item 935055	NM_000535.7(PMS2):c.2144A>C (p.His715Pro)	PMS2 (H580P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142765	NM_000535.7(PMS2):c.2117del (p.Lys706fs)	PMS2 (K519fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colon cancer +6 more	GPathogenic
Select item 91327	NM_000535.7(PMS2):c.2007-4G>A	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36687	NM_000535.7(PMS2):c.2007-7C>T	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 91324	NM_000535.7(PMS2):c.2006+6G>A	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
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 186596	NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)	PMS2	Deletion (nonsense +1 more)	not provided +5 more	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 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 41706	NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)	PMS2 (L571I +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely 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 455667	NM_000535.7(PMS2):c.1680T>C (p.Cys560=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 36686	NM_000535.7(PMS2):c.1621= (p.Lys541=)	PMS2	Single nucleotide variant (no sequence alteration +1 more)	Lynch syndrome	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 138701	NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)	PMS2 (E537K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
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 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 135939	NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)	PMS2 (Y519C +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +6 more	GConflicting classifications of pathogenicity
Select item 41704	NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)	PMS2 (T511M +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 41703	NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)	PMS2 (T511A +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 127761	NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	PMS2 (G497D +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 91304	NM_000535.7(PMS2):c.1488C>T (p.His496=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 41702	NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)	PMS2 (T485K +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 220433	NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)	PMS2 (G480R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
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 4 +7 more	GConflicting classifications of pathogenicity
Select item 36685	NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)	PMS2 (P470S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 135933	NM_000535.7(PMS2):c.1320A>G (p.Pro440=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GBenign/Likely benign
Select item 183779	NM_000535.7(PMS2):c.1266G>A (p.Glu422=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 184060	NM_000535.7(PMS2):c.1197G>A (p.Lys399=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 560795	NM_000535.7(PMS2):c.1185C>T (p.Pro395=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 162508	NM_000535.7(PMS2):c.1144+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome +4 more	GPathogenic/Likely pathogenic
Select item 186188	NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)	PMS2 (I360M +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127751	NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	PMS2 (N335S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 91386	NM_000535.7(PMS2):c.989-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 545975	NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)	PMS2 (S329* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 41722	NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)	PMS2 (Y318C +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 185028	NM_000535.7(PMS2):c.917T>C (p.Val306Ala)	PMS2 (V306A +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +5 more	GUncertain significance
Select item 455744	NM_000535.7(PMS2):c.849T>A (p.Ser283Arg)	PMS2 (S283R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 135946	NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)	PMS2 (T277K +4 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 525797	NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr)	PMS2 (C276Y +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 91368	NM_000535.7(PMS2):c.787C>G (p.Leu263Val)	PMS2 (L263V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GUncertain significance
Select item 36693	NM_000535.7(PMS2):c.780C>G (p.Ser260=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GBenign
Select item 36692	NM_000535.7(PMS2):c.705+17A>G	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 127793	NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)	PMS2 (G207E +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 41715	NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)	PMS2 (Y191C +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 480373	NM_000535.7(PMS2):c.398C>T (p.Thr133Ile)	PMS2 (T133I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 135943	NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	PMS2 (S128L +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +6 more	GConflicting classifications of pathogenicity
Select item 135069	NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)	PMS2 (A127T +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 91350	NM_000535.7(PMS2):c.288C>T (p.Ala96=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Lynch syndrome	GBenign
Select item 127785	NM_000535.7(PMS2):c.251-20T>G	PMS2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely 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 41721	NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	PMS2 (G29A)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 41716	NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	PMS2 (R20Q)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GBenign
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 1169336	NM_000535.7(PMS2):c.23+72C>T	LOC129997916, PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GBenign
Select item 132730	NM_000535.7(PMS2):c.23+10G>C	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 91323	NM_000535.7(PMS2):c.1A>G (p.Met1Val)	PMS2 (M1V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely pathogenic

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Items: 73