"Institute for Biomarker Research, Medical Diagnostic Laboratories, L. - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 391105	NM_000455.5(STK11):c.48G>A (p.Glu16=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 186826	NM_000455.5(STK11):c.116G>T (p.Arg39Leu)	STK11 (R39L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GUncertain significance
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 215737	NM_000455.5(STK11):c.374+9T>A	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 139331	NM_000455.5(STK11):c.464+9G>A	STK11	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 127703	NM_000455.5(STK11):c.465-4G>A	STK11	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 135924	NM_000455.5(STK11):c.598-8C>T	STK11	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 182909	NM_000455.5(STK11):c.613G>A (p.Ala205Thr)	STK11 (A205T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 142319	NM_000455.5(STK11):c.618G>A (p.Ala206=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +4 more	GConflicting classifications of pathogenicity
Select item 215741	NM_000455.5(STK11):c.735-9G>A	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 139335	NM_000455.5(STK11):c.787T>C (p.Leu263=)	STK11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 139337	NM_000455.5(STK11):c.882G>A (p.Pro294=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 127707	NM_000455.5(STK11):c.894C>A (p.Phe298Leu)	STK11 (F298L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +7 more	GConflicting classifications of pathogenicity
Select item 135929	NM_000455.5(STK11):c.945G>A (p.Pro315=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
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 484999	NM_000455.5(STK11):c.1105C>T (p.Pro369Ser)	LOC130062899, STK11 (P369S)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GUncertain significance
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 127700	NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	STK11 (S404F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer 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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1014719	NM_000455.5(STK11):c.1259C>A (p.Ala420Asp)	STK11 (A420D)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
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 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
Select item 3236726	NM_000455.5(STK11):c.*37C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3381825	NM_000455.5(STK11):c.*38A>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1285616	NM_000455.5(STK11):c.*70C>G	STK11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1285615	NM_000455.5(STK11):c.*176C>T	STK11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3236730	NM_000455.5(STK11):c.*181G>A	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3236725	NM_000455.5(STK11):c.*228T>C	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3340078	NM_000455.5(STK11):c.*261C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2683775	NM_000455.5(STK11):c.*309G>A	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 888788	NM_000455.5(STK11):c.*332C>T	STK11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 328237	NM_000455.5(STK11):c.*365C>G	STK11	Single nucleotide variant	not provided +1 more	GBenign
Select item 328240	NM_000455.5(STK11):c.*413C>A	STK11	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3340079	NM_000455.5(STK11):c.*426C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 890495	NM_000455.5(STK11):c.*460G>A	STK11	Single nucleotide variant (3 prime UTR variant)	Peutz-Jeghers syndrome +1 more	GBenign/Likely benign

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Items: 36