"Database of Curated Mutations (DoCM)"[submitter] AND "STK11"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376334	NM_000455.5(STK11):c.109C>T (p.Gln37Ter)	STK11 (Q37*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 7445	NM_000455.5(STK11):c.200T>C (p.Leu67Pro)	STK11 (L67P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376742	NM_000455.5(STK11):c.256C>G (p.Arg86Gly)	STK11 (R86G)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 376743	NM_000455.5(STK11):c.323A>G (p.Lys108Arg)	STK11 (K108R)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 376709	NM_000455.5(STK11):c.368A>G (p.Gln123Arg)	STK11 (Q123R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 376710	NM_000455.5(STK11):c.487G>T (p.Gly163Cys)	STK11 (G163C)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma	GLikely pathogenic
Select item 7455	NM_000455.5(STK11):c.508C>T (p.Gln170Ter)	STK11 (Q170*)	Single nucleotide variant (nonsense)	Peutz-Jeghers syndrome	GPathogenic
Select item 182907	NM_000455.5(STK11):c.526G>A (p.Asp176Asn)	STK11 (D176N)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GPathogenic
Select item 376744	NM_000455.5(STK11):c.530T>A (p.Ile177Asn)	STK11 (I177N)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 188348	NM_000455.5(STK11):c.580G>A (p.Asp194Asn)	STK11 (D194N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 7450	NM_000455.5(STK11):c.580G>T (p.Asp194Tyr)	STK11 (D194Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 376335	NM_000455.5(STK11):c.581A>T (p.Asp194Val)	STK11 (D194V)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376187	NM_000455.5(STK11):c.582C>G (p.Asp194Glu)	STK11 (D194E)	Single nucleotide variant (missense variant)	Neoplasm of the pancreas	GLikely pathogenic
Select item 185384	NM_000455.5(STK11):c.582C>A (p.Asp194Glu)	STK11 (D194E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 376336	NM_000455.5(STK11):c.587G>T (p.Gly196Val)	STK11 (G196V)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 376338	NM_000455.5(STK11):c.595G>T (p.Glu199Ter)	STK11 (E199*)	Single nucleotide variant (nonsense)	Neoplasm	GLikely pathogenic
Select item 376337	NM_000455.5(STK11):c.595G>A (p.Glu199Lys)	STK11 (E199K)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 376741	NM_000455.5(STK11):c.644G>A (p.Gly215Asp)	STK11 (G215D)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 376708	NM_000455.5(STK11):c.647C>T (p.Ser216Phe)	STK11 (S216F)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 7458	NM_000455.5(STK11):c.717G>C (p.Trp239Cys)	STK11 (W239C)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome	GPathogenic
Select item 142115	NM_000455.5(STK11):c.842C>T (p.Pro281Leu)	STK11 (P281L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +5 more	GConflicting classifications of pathogenicity
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 376745	NM_000455.5(STK11):c.924G>C (p.Trp308Cys)	STK11 (W308C)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 135931	NM_000455.5(STK11):c.971C>T (p.Pro324Leu)	STK11 (P324L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +3 more	GUncertain significance
Select item 376339	NM_000455.5(STK11):c.996G>A (p.Trp332Ter)	LOC130062899, STK11 (W332*)	Single nucleotide variant (nonsense)	Neoplasm	GLikely pathogenic
Select item 376711	NM_000455.5(STK11):c.1060T>C (p.Phe354Leu)	LOC130062899, STK11 (F354L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 135277	NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)	LOC130062899, STK11 (T363I)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 27