"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 185127	NM_000455.5(STK11):c.-1C>T	STK11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 458014	NM_000455.5(STK11):c.112C>G (p.Pro38Ala)	STK11 (P38A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 93097	NM_000455.5(STK11):c.264C>A (p.Ile88=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign
Select item 403771	NM_000455.5(STK11):c.299A>G (p.Gln100Arg)	STK11 (Q100R)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +6 more	GUncertain significance
Select item 220485	NM_000455.5(STK11):c.312G>C (p.Arg104Ser)	STK11 (R104S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 233125	NM_000455.5(STK11):c.318G>T (p.Arg106=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 219451	NM_000455.5(STK11):c.355A>G (p.Asn119Asp)	STK11 (N119D)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 184285	NM_000455.5(STK11):c.366G>A (p.Lys122=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 141198	NM_000455.5(STK11):c.369G>A (p.Gln123=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 135921	NM_000455.5(STK11):c.440G>A (p.Arg147His)	STK11 (R147H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 142377	NM_000455.5(STK11):c.464+4C>T	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141354	NM_000455.5(STK11):c.464+5G>A	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 139331	NM_000455.5(STK11):c.464+9G>A	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 142410	NM_000455.5(STK11):c.464+10C>T	STK11	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 412535	NM_000455.5(STK11):c.465-10C>G	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 142034	NM_000455.5(STK11):c.465-5C>T	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 127703	NM_000455.5(STK11):c.465-4G>A	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome +5 more	GConflicting classifications of pathogenicity
Select item 230108	NM_000455.5(STK11):c.537G>T (p.Pro179=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GBenign/Likely benign
Select item 1329423	NM_000455.5(STK11):c.543C>T (p.Asn181=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 328230	NM_000455.5(STK11):c.597+21dup	STK11	Duplication (intron variant)	Peutz-Jeghers syndrome +4 more	GBenign/Likely benign
Select item 182881	NM_000455.5(STK11):c.597+14del	STK11	Deletion (intron variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 215740	NM_000455.5(STK11):c.598-7G>A	STK11	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 142319	NM_000455.5(STK11):c.618G>A (p.Ala206=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182910	NM_000455.5(STK11):c.632G>A (p.Arg211Gln)	STK11 (R211Q)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 183713	NM_000455.5(STK11):c.666C>T (p.Pro222=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +4 more	GBenign/Likely benign
Select item 135926	NM_000455.5(STK11):c.721G>A (p.Ala241Thr)	STK11 (A241T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 135927	NM_000455.5(STK11):c.723T>C (p.Ala241=)	STK11	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 139334	NM_000455.5(STK11):c.734+20G>A	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 183840	NM_000455.5(STK11):c.777C>T (p.Asn259=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 139335	NM_000455.5(STK11):c.787T>C (p.Leu263=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 182885	NM_000455.5(STK11):c.795G>A (p.Glu265=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 141192	NM_000455.5(STK11):c.816C>T (p.Tyr272=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign
Select item 139336	NM_000455.5(STK11):c.825G>A (p.Pro275=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 139338	NM_000455.5(STK11):c.921-10G>A	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +3 more	GBenign/Likely benign
Select item 403790	NM_000455.5(STK11):c.944C>T (p.Pro315Leu)	STK11 (P315L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135929	NM_000455.5(STK11):c.945G>A (p.Pro315=)	STK11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 184026	NM_000455.5(STK11):c.1038C>T (p.Gly346=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +5 more	GConflicting classifications of pathogenicity
Select item 185970	NM_000455.5(STK11):c.1044C>T (p.Asp348=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 403783	NM_000455.5(STK11):c.1046A>C (p.Glu349Ala)	LOC130062899, STK11 (E349A)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GUncertain significance
Select item 7461	NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	LOC130062899, STK11 (F354L)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 237787	NM_000455.5(STK11):c.1108+3G>A	LOC130062899, STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127698	NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)	STK11 (E376A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135915	NM_000455.5(STK11):c.1185A>G (p.Thr395=)	STK11	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 127699	NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)	STK11 (A397S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 141004	NM_000455.5(STK11):c.1190C>T (p.Ala397Val)	STK11 (A397V)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 127700	NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	STK11 (S404F)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142993	NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)	STK11 (A417S)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GConflicting classifications of pathogenicity
Select item 237793	NM_000455.5(STK11):c.1253G>C (p.Cys418Ser)	STK11 (C418S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 234438	NM_000455.5(STK11):c.1283C>T (p.Ser428Leu)	STK11 (S428L)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 184031	NM_000455.5(STK11):c.1284G>A (p.Ser428=)	STK11	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 139339	NM_000455.5(STK11):c.1296G>A (p.Gln432=)	STK11	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 139340	NM_000455.5(STK11):c.*8C>T	STK11	Single nucleotide variant (3 prime UTR variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity

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Items: 52