C1838333[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36572	NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	MSH2 (R680* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
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 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 548759	NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys)	PMS2 (T824K +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4	GUncertain significance
Select item 548760	NM_000535.7(PMS2):c.2464C>G (p.Leu822Val)	PMS2 (L822V +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 9237	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	PMS2 (R802* +9 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 548764	NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg)	PMS2 (C798R +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 525618	NM_000535.7(PMS2):c.2389A>T (p.Met797Leu)	PMS2 (M797L +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +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 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 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 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 548761	NM_000535.7(PMS2):c.2276-2A>C	PMS2 (L634F +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4	GLikely pathogenic
Select item 141832	NM_000535.7(PMS2):c.2276-10A>G	PMS2 (I632V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
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 91333	NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)	PMS2 (K561fs +7 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome	GPathogenic
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 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 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 91329	NM_000535.7(PMS2):c.2174+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GPathogenic
Select item 185339	NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)	PMS2 (A725V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
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
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 127773	NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)	PMS2 (T703M +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 484283	NM_000535.7(PMS2):c.2089A>G (p.Ile697Val)	PMS2 (I697V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 411074	NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)	PMS2 (I688V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 229989	NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)	PMS2 (I679T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 91327	NM_000535.7(PMS2):c.2007-4G>A	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 215754	NM_000535.7(PMS2):c.2007-6C>G	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
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 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 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 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 480298	NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)	PMS2 (S587N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 91311	NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)	PMS2 (R578C +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +4 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 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 141394	NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)	PMS2 (R563Q +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +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 127763	NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)	PMS2 (S523T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 142635	NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)	PMS2 (S494L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
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 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 186045	NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)	PMS2 (K465R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 142257	NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)	PMS2 (G460D +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 231735	NM_000535.7(PMS2):c.1344A>G (p.Gly448=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +2 more	GBenign/Likely benign
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 127752	NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)	PMS2 (E347D +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 142960	NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)	PMS2 (D328G +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 142066	NM_000535.7(PMS2):c.964G>A (p.Val322Ile)	PMS2 (V322I +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 219846	NM_000535.7(PMS2):c.962T>C (p.Val321Ala)	PMS2 (V321A +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 184092	NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)	PMS2 (R315Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 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 142959	NM_000535.7(PMS2):c.936G>A (p.Met312Ile)	PMS2 (M312I +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 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 140880	NM_000535.7(PMS2):c.904-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 371847	NM_000535.7(PMS2):c.903+20_903+21del	PMS2	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 233232	NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)	PMS2 (R294Q +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 142577	NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)	PMS2 (N293D +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +6 more	GUncertain significance
Select item 231047	NM_000535.7(PMS2):c.868T>G (p.Phe290Val)	PMS2 (F290V +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 91375	NM_000535.7(PMS2):c.861_864del (p.Arg287fs)	PMS2 (R152fs +4 more)	Microsatellite (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 91376	NM_000535.7(PMS2):c.862_863del (p.Gln288fs)	PMS2 (Q288fs +4 more)	Deletion (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 127798	NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	PMS2 (D286G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 141523	NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)	PMS2 (Q275E +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +5 more	GConflicting classifications of pathogenicity
Select item 548879	NM_000535.7(PMS2):c.804-12A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 371958	NM_000535.7(PMS2):c.803+23A>T	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4	GLikely benign
Select item 231124	NM_000535.7(PMS2):c.789G>A (p.Leu263=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
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 142671	NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)	PMS2 (G256S +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 219729	NM_000535.7(PMS2):c.738C>G (p.Pro246=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GBenign/Likely benign
Select item 93236	NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)	PMS2 (S238R +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 127795	NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)	PMS2 (Q237L +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 439245	NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)	PMS2 (Q237* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 41718	NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)	PMS2 (L236F +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 198429	NM_000535.7(PMS2):c.706-4dup	PMS2	Duplication (intron variant)	Lynch syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 548853	NM_000535.7(PMS2):c.705+13G>A	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182800	NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)	PMS2 (Q233E +3 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome +5 more	GUncertain significance
Select item 41717	NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)	PMS2 (G232E +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 127794	NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)	PMS2 (G228S +3 more)	Single nucleotide variant (missense variant +3 more)	Breast and/or ovarian cancer +5 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)	Lynch syndrome 4 +5 more	GUncertain significance
Select item 91361	NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	PMS2 (Q205P +3 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4 +6 more	GConflicting classifications of pathogenicity
Select item 231881	NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)	PMS2 (N204S +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 135070	NM_000535.7(PMS2):c.598G>A (p.Val200Ile)	PMS2 (V200I +3 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 187514	NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)	PMS2 (R199C +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +5 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 411028	NM_000535.7(PMS2):c.538-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome +4 more	GPathogenic/Likely pathogenic
Select item 127792	NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)	PMS2 (F163L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 184621	NM_000535.7(PMS2):c.477G>A (p.Val159=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 188304	NM_000535.7(PMS2):c.466A>G (p.Thr156Ala)	PMS2 (T156A +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +4 more	GUncertain significance
Select item 216457	NM_000535.7(PMS2):c.412G>C (p.Asp138His)	PMS2 (D138H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 9234	NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	PMS2 (R134* +2 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic

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