C0031269[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 234549	NM_000455.5(STK11):c.25C>G (p.Leu9Val)	STK11 (L9V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
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 142410	NM_000455.5(STK11):c.464+10C>T	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +7 more	GBenign/Likely benign
Select item 458048	NM_000455.5(STK11):c.486C>T (p.Asp162=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +4 more	GLikely benign
Select item 412534	NM_000455.5(STK11):c.558C>T (p.Thr186=)	STK11	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 141128	NM_000455.5(STK11):c.566C>T (p.Thr189Ile)	STK11 (T189I)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +6 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 182910	NM_000455.5(STK11):c.632G>A (p.Arg211Gln)	STK11 (R211Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 182902	NM_000455.5(STK11):c.719C>G (p.Ser240Trp)	STK11 (S240W)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GLikely pathogenic
Select item 458061	NM_000455.5(STK11):c.747C>T (p.Thr249=)	STK11	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
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 7461	NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	LOC130062899, STK11 (F354L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 184046	NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)	STK11 (G394S)	Single nucleotide variant (missense variant)	Embryonal rhabdomyosarcoma +7 more	GUncertain significance
Select item 141954	NM_000455.5(STK11):c.1183A>G (p.Thr395Ala)	STK11 (T395A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 135916	NM_000455.5(STK11):c.1194G>A (p.Ala398=)	STK11	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 403791	NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)	STK11 (Q399K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 220264	NM_000455.5(STK11):c.1243C>G (p.Arg415Gly)	STK11 (R415G)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +5 more	GUncertain significance