C1838333[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360540	NM_000535.7(PMS2):c.*107A>G	PMS2	Single nucleotide variant (3 prime UTR variant +1 more)	Lynch syndrome 4	GLikely benign
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 36690	NM_000535.7(PMS2):c.2466T>C (p.Leu822=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
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 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 cancer-predisposing syndrome +7 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 141832	NM_000535.7(PMS2):c.2276-10A>G	PMS2 (I632V +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 909473	NM_000535.7(PMS2):c.2275+11A>T	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4	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 142721	NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)	PMS2 (R747T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 138703	NM_000535.7(PMS2):c.2187C>G (p.Leu729=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +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 909474	NM_000535.7(PMS2):c.2174+9G>T	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4	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)	Lynch syndrome 4 +8 more	GConflicting classifications of pathogenicity
Select item 127770	NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	PMS2 (T671M +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
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 455676	NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)	PMS2 (E661K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 184644	NM_000535.7(PMS2):c.1980C>T (p.Ala660=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 360541	NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)	PMS2 (A650V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 135941	NM_000535.7(PMS2):c.1936A>C (p.Arg646=)	PMS2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 360542	NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)	PMS2 (E640K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 232445	NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn)	PMS2 (S639N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
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 135066	NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)	PMS2 (N570D +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 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)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
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 138701	NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)	PMS2 (E537K +7 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +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)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 141664	NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GBenign/Likely benign
Select item 219612	NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)	PMS2 (E518K +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +5 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)	Hereditary cancer-predisposing syndrome +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 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 216450	NM_000535.7(PMS2):c.1435C>G (p.His479Asp)	PMS2 (H479D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
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 360543	NM_000535.7(PMS2):c.1359G>A (p.Met453Ile)	PMS2 (M453I +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4	GUncertain significance
Select item 184994	NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)	PMS2 (A423G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 142561	NM_000535.7(PMS2):c.1243G>A (p.Val415Met)	PMS2 (V415M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 185100	NM_000535.7(PMS2):c.1170G>A (p.Ala390=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 237879	NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)	PMS2 (V367I +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 185416	NM_000535.7(PMS2):c.1026A>C (p.Gln342His)	PMS2 (Q342H +5 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +5 more	GUncertain significance
Select item 138698	NM_000535.7(PMS2):c.988+11T>C	PMS2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 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 184092	NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)	PMS2 (R315Q +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 4 +8 more	GConflicting classifications of pathogenicity
Select item 91377	NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	PMS2 (K301N +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 231118	NM_000535.7(PMS2):c.893A>G (p.Asp298Gly)	PMS2 (D298G +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 4 +2 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 911699	NM_000535.7(PMS2):c.636G>A (p.Gln212=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Lynch syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 91355	NM_000535.7(PMS2):c.384G>A (p.Ser128=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 135069	NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)	PMS2 (A127T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 230211	NM_000535.7(PMS2):c.353+4A>G	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome 4 +4 more	GUncertain significance
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 439243	NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	PMS2 (E81* +1 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 4 +5 more	GPathogenic/Likely pathogenic
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 41721	NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	PMS2 (G29A)	Single nucleotide variant (missense variant +3 more)	Breast and/or ovarian cancer +7 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 41714	NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	PMS2 (I18T)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4 +7 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 185695	NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)	PMS2 (T9A)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 4 +4 more	GUncertain significance
Select item 132730	NM_000535.7(PMS2):c.23+10G>C	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 232589	NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)	PMS2 (A4G)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 186903	NM_000535.7(PMS2):c.-4A>G	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 140831	NM_000535.7(PMS2):c.-7T>C	PMS2	Single nucleotide variant (5 prime UTR variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 360545	NM_000535.6(PMS2):c.-46T>A	PMS2	Single nucleotide variant (non-coding transcript variant)	Lynch syndrome 4	GUncertain significance
Select item 910467	NM_000535.6(PMS2):c.-53G>A	PMS2	Single nucleotide variant (non-coding transcript variant)	Lynch syndrome 4	GBenign

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Items: 78