C1833477[trait identifier] AND "University of Washington Department of - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic/Likely pathogenic
Select item 89562	NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	MSH6 (A25S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +9 more	GConflicting classifications of pathogenicity
Select item 89573	NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	MSH6 (K295R +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 89168	NM_000179.3(MSH6):c.1082G>A (p.Arg361His)	MSH6 (R361H +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127554	NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)	MSH6 (T369I +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 89172	NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	MSH6 (L370S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 89174	NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	MSH6	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 224534	NM_000179.3(MSH6):c.1352del (p.Phe451fs)	MSH6 (F149fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 142181	NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)	MSH6 (N455T +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 89191	NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	MSH6 (R468C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 422316	NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly)	MSH6 (R482G +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 89197	NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	MSH6 (R495* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 135830	NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)	MSH6 (E533D +2 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 419037	NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)	MSH6 (L540del +2 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 89220	NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)	MSH6 (L585P +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +7 more	GConflicting classifications of pathogenicity
Select item 224580	NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)	MSH6 (S616C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 185463	NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)	MSH6 (E639K +2 more)	Single nucleotide variant (missense variant)	MSH6-related condition +7 more	GConflicting classifications of pathogenicity
Select item 187516	NM_000179.3(MSH6):c.2079dup (p.Cys694fs)	MSH6 (C392fs +2 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic
Select item 89256	NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	MSH6 (V415fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89279	NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)	MSH6 (V800L +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely benign
Select item 182637	NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)	MSH6 (K888N +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 224535	NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)	MSH6 (S950fs +2 more)	Microsatellite (frameshift variant)	Endometrial carcinoma +5 more	GPathogenic
Select item 186181	NM_000179.3(MSH6):c.2876G>A (p.Arg959His)	MSH6 (R959H +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 89336	NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)	MSH6 (E1023* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 41593	NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)	MSH6 (P1073S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 127585	NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)	MSH6 (R1095C +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 185358	NM_000179.3(MSH6):c.3300G>A (p.Thr1100=)	MSH6	Single nucleotide variant (synonymous variant)	MSH6-related condition +6 more	GBenign/Likely benign
Select item 986790	NM_000179.3(MSH6):c.3414_3416del (p.Gly1139del)	MSH6 (G1009del +2 more)	Deletion (inframe_deletion)	Lynch syndrome 5	GLikely pathogenic
Select item 237189	NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)	MSH6	Single nucleotide variant (synonymous variant)	MSH6-related condition +6 more	GBenign/Likely benign
Select item 619544	NM_000179.3(MSH6):c.3438+2T>C	MSH6	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 142773	NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)	MSH6 (G1157C +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 619540	NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)	MSH6 (G1157D +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 89416	NM_000179.3(MSH6):c.3557-40T>A	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 224583	NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)	MSH6 (A1204T +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 619545	NM_000179.3(MSH6):c.3801+2T>C	MSH6	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 186876	NM_000179.3(MSH6):c.3801+5G>A	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 89486	NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	MSH6	Duplication (nonsense)	Lynch syndrome	GPathogenic

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Items: 39