"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC130062899 - ClinVar

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 921296	NM_000455.5(STK11):c.983C>G (p.Thr328Ser)	LOC130062899, STK11 (T328S)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 659897	NM_000455.5(STK11):c.983C>T (p.Thr328Ile)	LOC130062899, STK11 (T328I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 182889	NM_000455.5(STK11):c.984C>G (p.Thr328=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GBenign/Likely benign
Select item 527850	NM_000455.5(STK11):c.987G>A (p.Lys329=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 230490	NM_000455.5(STK11):c.991C>T (p.Arg331Trp)	LOC130062899, STK11 (R331W)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +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 specified +3 more	GConflicting classifications of pathogenicity
Select item 921581	NM_000455.5(STK11):c.997C>T (p.Arg333Cys)	LOC130062899, STK11 (R333C)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GUncertain significance
Select item 818234	NM_000455.5(STK11):c.1001G>A (p.Ser334Asn)	LOC130062899, STK11 (S334N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 492508	NM_000455.5(STK11):c.1005G>A (p.Met335Ile)	LOC130062899, STK11 (M335I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 237785	NM_000455.5(STK11):c.1008T>C (p.Thr336=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GLikely benign
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	Malignant tumor of testis +6 more	GConflicting classifications of pathogenicity
Select item 629005	NM_000455.5(STK11):c.1013T>C (p.Val338Ala)	LOC130062899, STK11 (V338A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2774543	NM_000455.5(STK11):c.1014G>A (p.Val338=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome +1 more	GLikely benign
Select item 142696	NM_000455.5(STK11):c.1016C>T (p.Pro339Leu)	LOC130062899, STK11 (P339L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +4 more	GUncertain significance
Select item 233233	NM_000455.5(STK11):c.1017G>A (p.Pro339=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 458010	NM_000455.5(STK11):c.1029C>T (p.Asp343=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +1 more	GLikely benign
Select item 219493	NM_000455.5(STK11):c.1031T>C (p.Leu344Pro)	LOC130062899, STK11 (L344P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 386202	NM_000455.5(STK11):c.1032G>A (p.Leu344=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 183994	NM_000455.5(STK11):c.1035C>T (p.His345=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 403793	NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del)	LOC130062899, STK11	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141886	NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)	LOC130062899, STK11 (G346S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184026	NM_000455.5(STK11):c.1038C>T (p.Gly346=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer +6 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 specified +3 more	GConflicting classifications of pathogenicity
Select item 578037	NM_000455.5(STK11):c.1040C>T (p.Ala347Val)	LOC130062899, STK11 (A347V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 141851	NM_000455.5(STK11):c.1040C>G (p.Ala347Gly)	LOC130062899, STK11 (A347G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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)	Peutz-Jeghers syndrome +4 more	GConflicting classifications of pathogenicity
Select item 185970	NM_000455.5(STK11):c.1044C>T (p.Asp348=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 127697	NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)	LOC130062899, STK11 (E349K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 184376	NM_000455.5(STK11):c.1050C>T (p.Asp350=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 484997	NM_000455.5(STK11):c.1051G>A (p.Glu351Lys)	LOC130062899, STK11 (E351K)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +3 more	GUncertain significance
Select item 631085	NM_000455.5(STK11):c.1053G>T (p.Glu351Asp)	LOC130062899, STK11 (E351D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 492509	NM_000455.5(STK11):c.1053G>A (p.Glu351=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 184351	NM_000455.5(STK11):c.1056C>T (p.Asp352=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GLikely benign
Select item 184837	NM_000455.5(STK11):c.1062C>T (p.Phe354=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 492510	NM_000455.5(STK11):c.1063G>C (p.Asp355His)	LOC130062899, STK11 (D355H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 818326	NM_000455.5(STK11):c.1066A>C (p.Ile356Leu)	LOC130062899, STK11 (I356L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412547	NM_000455.5(STK11):c.1068C>T (p.Ile356=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GLikely benign
Select item 142798	NM_000455.5(STK11):c.1068C>G (p.Ile356Met)	LOC130062899, STK11 (I356M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 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 2774544	NM_000455.5(STK11):c.1071G>C (p.Glu357Asp)	LOC130062899, STK11 (E357D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 412537	NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)	LOC130062899, STK11 (E357D)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135278	NM_000455.5(STK11):c.1072G>A (p.Asp358Asn)	LOC130062899, STK11 (D358N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 630002	NM_000455.5(STK11):c.1077C>G (p.Asp359Glu)	LOC130062899, STK11 (D359E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 527846	NM_000455.5(STK11):c.1077C>T (p.Asp359=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 527832	NM_000455.5(STK11):c.1078A>G (p.Ile360Val)	LOC130062899, STK11 (I360V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1674683	NM_000455.5(STK11):c.1086C>T (p.Tyr362=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +1 more	GLikely benign
Select item 419166	NM_000455.5(STK11):c.1087A>G (p.Thr363Ala)	LOC130062899, STK11 (T363A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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
Select item 822143	NM_000455.5(STK11):c.1091A>G (p.Gln364Arg)	LOC130062899, STK11 (Q364R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 492511	NM_000455.5(STK11):c.1092G>A (p.Gln364=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +1 more	GLikely benign
Select item 924537	NM_000455.5(STK11):c.1093G>T (p.Asp365Tyr)	LOC130062899, STK11 (D365Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 664864	NM_000455.5(STK11):c.1093G>A (p.Asp365Asn)	LOC130062899, STK11 (D365N)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 919628	NM_000455.5(STK11):c.1096T>G (p.Phe366Val)	LOC130062899, STK11 (F366V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 923290	NM_000455.5(STK11):c.1098C>G (p.Phe366Leu)	LOC130062899, STK11 (F366L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 962074	NM_000455.5(STK11):c.1100C>A (p.Thr367Lys)	LOC130062899, STK11 (T367K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142939	NM_000455.5(STK11):c.1100C>T (p.Thr367Met)	LOC130062899, STK11 (T367M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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)	not specified +3 more	GBenign/Likely benign
Select item 486520	NM_000455.5(STK11):c.1102G>A (p.Val368Met)	LOC130062899, STK11 (V368M)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +2 more	GUncertain significance
Select item 484999	NM_000455.5(STK11):c.1105C>T (p.Pro369Ser)	LOC130062899, STK11 (P369S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +2 more	GUncertain significance
Select item 486523	NM_000455.5(STK11):c.1106C>G (p.Pro369Arg)	LOC130062899, STK11 (P369R)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 237786	NM_000455.5(STK11):c.1107C>T (p.Pro369=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +2 more	GLikely benign
Select item 185965	NM_000455.5(STK11):c.1108G>A (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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 578710	NM_000455.5(STK11):c.1108+6T>C	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 628545	NM_000455.5(STK11):c.1108+7C>G	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492513	NM_000455.5(STK11):c.1108+7C>T	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 492512	NM_000455.5(STK11):c.1108+11C>T	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 628635	NM_000455.5(STK11):c.1108+12G>C	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 926868	NM_000455.5(STK11):c.1108+13G>A	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 920250	NM_000455.5(STK11):c.1108+13G>T	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 509327	NM_000455.5(STK11):c.1108+18C>G	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

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Items: 74