"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 230490	NM_000455.5(STK11):c.991C>T (p.Arg331Trp)	LOC130062899, STK11 (R331W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 141962	NM_000455.5(STK11):c.992G>A (p.Arg331Gln)	LOC130062899, STK11 (R331Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +6 more	GConflicting classifications of pathogenicity
Select item 140986	NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)	LOC130062899, STK11 (D343N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 183994	NM_000455.5(STK11):c.1035C>T (p.His345=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 403793	NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del)	LOC130062899, STK11	Deletion (inframe_deletion)	Peutz-Jeghers syndrome +3 more	GUncertain significance
Select item 184026	NM_000455.5(STK11):c.1038C>T (p.Gly346=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 141089	NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)	LOC130062899, STK11 (A347T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 403761	NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1])	LOC130062899, STK11	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184691	NM_000455.5(STK11):c.1041G>A (p.Ala347=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 184376	NM_000455.5(STK11):c.1050C>T (p.Asp350=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 184351	NM_000455.5(STK11):c.1056C>T (p.Asp352=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 184837	NM_000455.5(STK11):c.1062C>T (p.Phe354=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GBenign/Likely benign
Select item 439299	NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)	LOC130062899, STK11 (D355N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 198732	NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)	LOC130062899, STK11 (E357K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 412537	NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)	LOC130062899, STK11 (E357D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 185935	NM_000455.5(STK11):c.1101G>A (p.Thr367=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +3 more	GBenign/Likely benign
Select item 640313	NM_000455.5(STK11):c.1108G>C (p.Gly370Arg)	LOC130062899, STK11 (G370R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 237787	NM_000455.5(STK11):c.1108+3G>A	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity