"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93097	NM_000455.5(STK11):c.264C>A (p.Ile88=)	STK11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 256203	NM_000455.5(STK11):c.290+36G>T	STK11	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 141198	NM_000455.5(STK11):c.369G>A (p.Gln123=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +4 more	GBenign/Likely benign
Select item 256204	NM_000455.5(STK11):c.374+24G>T	STK11	Single nucleotide variant	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 139332	NM_000455.5(STK11):c.465-18G>T	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)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 141192	NM_000455.5(STK11):c.816C>T (p.Tyr272=)	STK11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 183802	NM_000455.5(STK11):c.910C>T (p.Arg304Trp)	STK11 (R304W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 93099	NM_000455.5(STK11):c.920+7G>C	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 1297689	NM_000455.5(STK11):c.921-12G>A	STK11	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 7461	NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	LOC130062899, STK11 (F354L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +7 more	GBenign/Likely benign
Select item 219713	NM_000455.5(STK11):c.1109-3C>T	STK11	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127700	NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	STK11 (S404F)	Single nucleotide variant (missense variant)	STK11-related condition +5 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 139341	NM_000455.5(STK11):c.*16+10G>A	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity