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

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

Search results

Items: 1 to 100 of 178

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 993156	NM_000455.5(STK11):c.-1114_290+1dup	LOC130062894, STK11	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 328228	NM_000455.5(STK11):c.-2G>T	STK11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 185127	NM_000455.5(STK11):c.-1C>T	STK11	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 492547	NM_000455.5(STK11):c.5A>C (p.Glu2Ala)	STK11 (E2A)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GUncertain significance
Select item 215738	NM_000455.5(STK11):c.42G>A (p.Glu14=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 826758	NM_000455.5(STK11):c.69C>G (p.Asp23Glu)	STK11 (D23E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 403777	NM_000455.5(STK11):c.71C>T (p.Thr24Met)	STK11 (T24M)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 237806	NM_000455.5(STK11):c.94A>G (p.Thr32Ala)	STK11 (T32A)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GUncertain significance
Select item 135930	NM_000455.5(STK11):c.96C>G (p.Thr32=)	STK11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 439300	NM_000455.5(STK11):c.117C>T (p.Arg39=)	STK11	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 182914	NM_000455.5(STK11):c.151A>C (p.Met51Leu)	STK11 (M51L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GUncertain significance
Select item 380605	NM_000455.5(STK11):c.163C>T (p.Leu55=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +3 more	GConflicting classifications of pathogenicity
Select item 234416	NM_000455.5(STK11):c.179dup (p.Tyr60Ter)	STK11 (Y60*)	Duplication (nonsense)	Peutz-Jeghers syndrome +1 more	GPathogenic/Likely pathogenic
Select item 237796	NM_000455.5(STK11):c.180C>T (p.Tyr60=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GLikely benign
Select item 439303	NM_000455.5(STK11):c.189G>A (p.Val63=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 439304	NM_000455.5(STK11):c.199del (p.Leu67fs)	STK11	Deletion (frameshift variant)	Peutz-Jeghers syndrome +1 more	GPathogenic/Likely pathogenic
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 2682086	NM_000455.5(STK11):c.235A>G (p.Ile79Val)	STK11 (I79V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 184178	NM_000455.5(STK11):c.237C>T (p.Ile79=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 7443	NM_000455.5(STK11):c.250A>T (p.Lys84Ter)	STK11 (K84*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 219936	NM_000455.5(STK11):c.306G>C (p.Leu102=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 237798	NM_000455.5(STK11):c.312G>A (p.Arg104=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +3 more	GLikely benign
Select item 220485	NM_000455.5(STK11):c.312G>C (p.Arg104Ser)	STK11 (R104S)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +3 more	GUncertain significance
Select item 141922	NM_000455.5(STK11):c.316C>T (p.Arg106Trp)	STK11 (R106W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 233125	NM_000455.5(STK11):c.318G>T (p.Arg106=)	STK11	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 412539	NM_000455.5(STK11):c.348G>T (p.Val116=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182877	NM_000455.5(STK11):c.357C>T (p.Asn119=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 184285	NM_000455.5(STK11):c.366G>A (p.Lys122=)	STK11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2682087	NM_000455.5(STK11):c.367C>A (p.Gln123Lys)	STK11 (Q123K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 548854	NM_000455.5(STK11):c.374+2T>C	STK11	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 139330	NM_000455.5(STK11):c.375-7G>A	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 792765	NM_000455.5(STK11):c.384G>C (p.Val128=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 846549	NM_000455.5(STK11):c.396C>G (p.Cys132Trp)	STK11 (C132W)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2682088	NM_000455.5(STK11):c.423C>G (p.Asp141Glu)	STK11 (D141E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 183890	NM_000455.5(STK11):c.426C>T (p.Ser142=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 183815	NM_000455.5(STK11):c.432G>A (p.Pro144=)	STK11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 135921	NM_000455.5(STK11):c.440G>A (p.Arg147His)	STK11 (R147H)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 142377	NM_000455.5(STK11):c.464+4C>T	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +3 more	GConflicting classifications of pathogenicity
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 216432	NM_000455.5(STK11):c.464+8C>T	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 specified +4 more	GBenign/Likely benign
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 237803	NM_000455.5(STK11):c.465-8G>A	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 142034	NM_000455.5(STK11):c.465-5C>T	STK11	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 801285	NM_000455.5(STK11):c.510G>A (p.Gln170=)	STK11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 187230	NM_000455.5(STK11):c.537G>A (p.Pro179=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 135923	NM_000455.5(STK11):c.552C>T (p.Leu184=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 141815	NM_000455.5(STK11):c.559G>A (p.Gly187Ser)	STK11 (G187S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 184001	NM_000455.5(STK11):c.594C>T (p.Ala198=)	STK11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 139333	NM_000455.5(STK11):c.597+8C>T	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 328230	NM_000455.5(STK11):c.597+21dup	STK11	Duplication (intron variant)	Peutz-Jeghers syndrome +4 more	GBenign/Likely benign
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 215740	NM_000455.5(STK11):c.598-7G>A	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 142317	NM_000455.5(STK11):c.608C>T (p.Pro203Leu)	STK11 (P203L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184044	NM_000455.5(STK11):c.612C>T (p.Phe204=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182909	NM_000455.5(STK11):c.613G>A (p.Ala205Thr)	STK11 (A205T)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 182882	NM_000455.5(STK11):c.615G>A (p.Ala205=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +4 more	GBenign/Likely benign
Select item 142319	NM_000455.5(STK11):c.618G>A (p.Ala206=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 184016	NM_000455.5(STK11):c.621C>T (p.Asp207=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 480702	NM_000455.5(STK11):c.625A>G (p.Thr209Ala)	STK11 (T209A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 183800	NM_000455.5(STK11):c.648C>T (p.Ser216=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 184161	NM_000455.5(STK11):c.651G>A (p.Pro217=)	STK11	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 458057	NM_000455.5(STK11):c.657C>T (p.Phe219=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 492549	NM_000455.5(STK11):c.666C>G (p.Pro222=)	STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 183713	NM_000455.5(STK11):c.666C>T (p.Pro222=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 993154	NM_000455.5(STK11):c.673G>A (p.Ala225Thr)	STK11 (A225T)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 644132	NM_000455.5(STK11):c.679G>A (p.Gly227Ser)	STK11 (G227S)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GUncertain significance
Select item 619727	NM_000455.5(STK11):c.693C>T (p.Phe231=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 801286	NM_000455.5(STK11):c.717G>T (p.Trp239Cys)	STK11 (W239C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 184074	NM_000455.5(STK11):c.720G>A (p.Ser240=)	STK11	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 577281	NM_000455.5(STK11):c.721G>T (p.Ala241Ser)	STK11 (A241S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 135926	NM_000455.5(STK11):c.721G>A (p.Ala241Thr)	STK11 (A241T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 135927	NM_000455.5(STK11):c.723T>C (p.Ala241=)	STK11	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 619728	NM_000455.5(STK11):c.725G>A (p.Gly242Glu)	STK11 (G242E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 412543	NM_000455.5(STK11):c.735-10C>T	STK11	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 215741	NM_000455.5(STK11):c.735-9G>A	STK11	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 403792	NM_000455.5(STK11):c.735C>G (p.Leu245=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 184479	NM_000455.5(STK11):c.771G>A (p.Gly257=)	STK11	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 619729	NM_000455.5(STK11):c.781_788dup (p.Leu263fs)	STK11 (L263fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 182885	NM_000455.5(STK11):c.795G>A (p.Glu265=)	STK11	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 458064	NM_000455.5(STK11):c.801C>T (p.Ile267=)	STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 142052	NM_000455.5(STK11):c.817G>A (p.Ala273Thr)	STK11 (A273T)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2682089	NM_000455.5(STK11):c.818C>G (p.Ala273Gly)	STK11 (A273G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 139336	NM_000455.5(STK11):c.825G>A (p.Pro275=)	STK11	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 403794	NM_000455.5(STK11):c.827G>T (p.Gly276Val)	STK11 (G276V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 184316	NM_000455.5(STK11):c.828C>T (p.Gly276=)	STK11	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 527858	NM_000455.5(STK11):c.840C>T (p.Pro280=)	STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 127705	NM_000455.5(STK11):c.842C>A (p.Pro281Gln)	STK11 (P281Q)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +3 more	GConflicting classifications of pathogenicity
Select item 183818	NM_000455.5(STK11):c.846C>G (p.Leu282=)	STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 439305	NM_000455.5(STK11):c.854T>C (p.Leu285Pro)	STK11 (L285P)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485002	NM_000455.5(STK11):c.863-4T>C	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 993155	NM_000455.5(STK11):c.864G>A (p.Gly288=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 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)	not provided +4 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2