ClinVar for Gene (Select 6794) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340079	NM_000455.5(STK11):c.*426C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3340078	NM_000455.5(STK11):c.*261C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3337955	NM_000455.5(STK11):c.291-5272_464+280del	LOC110006317, LOC110006318 +4 more	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 3323270	NM_000455.5(STK11):c.926T>A (p.Phe309Tyr)	STK11 (F309Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323269	NM_000455.5(STK11):c.1172G>T (p.Cys391Phe)	STK11 (C391F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323268	NM_000455.5(STK11):c.944C>A (p.Pro315Gln)	STK11 (P315Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323267	NM_000455.5(STK11):c.1239dup (p.Ala414fs)	STK11 (A414fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323266	NM_000455.5(STK11):c.1073A>T (p.Asp358Val)	LOC130062899, STK11 (D358V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323265	NM_000455.5(STK11):c.598-1G>T	STK11	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3323264	NM_000455.5(STK11):c.290+4A>G	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323263	NM_000455.5(STK11):c.1108+4A>T	LOC130062899, STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323262	NM_000455.5(STK11):c.639C>A (p.Ser213Arg)	STK11 (S213R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323261	NM_000455.5(STK11):c.454C>G (p.Gln152Glu)	STK11 (Q152E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323260	NM_000455.5(STK11):c.901dup (p.Arg301fs)	STK11 (R301fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3323258	NM_000455.5(STK11):c.750G>C (p.Thr250=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3323257	NM_000455.5(STK11):c.1026G>C (p.Glu342Asp)	LOC130062899, STK11 (E342D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323256	NM_000455.5(STK11):c.1224C>A (p.Gly408=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3323255	NM_000455.5(STK11):c.274G>C (p.Glu92Gln)	STK11 (E92Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323254	NM_000455.5(STK11):c.375-1C>T	STK11	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3323253	NM_000455.5(STK11):c.460dup (p.His154fs)	STK11 (H154fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3257821	NM_000455.5(STK11):c.733C>T (p.Leu245Phe)	STK11 (L245F)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3256230	NM_000455.5(STK11):c.16+12_16+22del	STK11	Deletion (intron variant)	not specified	GLikely benign
Select item 3256228	NM_000455.5(STK11):c.862+20G>A	STK11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256227	NM_000455.5(STK11):c.734+36C>T	STK11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256226	NM_000455.5(STK11):c.464+36G>T	STK11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256225	NM_000455.5(STK11):c.375-29C>T	STK11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256223	NM_000455.5(STK11):c.290+41T>C	STK11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256222	NM_000455.5(STK11):c.38C>A (p.Thr13Lys)	STK11 (T13K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3254380	NM_000455.5(STK11):c.116_117dup (p.Arg40fs)	STK11 (R40fs)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3254359	NM_000455.5(STK11):c.759_760delinsAT (p.Tyr253_Pro254delinsTer)	STK11 (Y253*)	Indel (nonsense +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3251210	NM_000455.5(STK11):c.435G>C (p.Glu145Asp)	STK11 (E145D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250824	NM_000455.5(STK11):c.1108+479G>A	STK11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3248422	NC_000019.9:g.(?_1220652)_(1222337_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3248421	NC_000019.9:g.(?_1218406)_(1222985_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3248420	NC_000019.9:g.(?_1223158)_(1224401_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GUncertain significance
Select item 3248419	NC_000019.9:g.(?_1207072)_(1215467_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3248416	NC_000019.9:g.(?_1204415)_(1207036_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3248415	NC_000019.9:g.(?_1218406)_(1226646_?)dup	STK11	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 3248414	NC_000019.9:g.(?_1218396)_(1223191_?)dup	STK11	Duplication	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3248413	NC_000019.9:g.(?_1206913)_(1221349_?)dup	STK11	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 3248412	NC_000019.9:g.(?_1206913)_(1226646_?)dup	STK11	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 3248411	NC_000019.9:g.(?_1221938)_(1226646_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3248410	NC_000019.9:g.(?_1220509)_(1223326_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3248409	NC_000019.10:g.(?_1218407)_(1223182_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3248408	NC_000019.9:g.(?_1206913)_(1220726_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3248407	NC_000019.9:g.(?_1222964)_(1223191_?)del	STK11	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	ABCA7, ARHGAP45 +14 more	Copy number loss	not provided	GPathogenic
Select item 3240548	NM_000455.5(STK11):c.1027G>T (p.Asp343Tyr)	LOC130062899, STK11 (D343Y)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1	GUncertain significance
Select item 3240547	NM_000455.5(STK11):c.676A>G (p.Asn226Asp)	STK11 (N226D)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1	GUncertain significance
Select item 3240546	NM_000455.5(STK11):c.92C>T (p.Ser31Phe)	STK11 (S31F)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1	GUncertain significance
Select item 3240545	NM_000455.5(STK11):c.344A>C (p.Asp115Ala)	STK11 (D115A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3236730	NM_000455.5(STK11):c.*181G>A	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3236726	NM_000455.5(STK11):c.*37C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3236725	NM_000455.5(STK11):c.*228T>C	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3234080	NM_000455.5(STK11):c.503A>G (p.His168Arg)	STK11 (H168R)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 3231753	NM_000455.5(STK11):c.998G>C (p.Arg333Pro)	LOC130062899, STK11 (R333P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231752	NM_000455.5(STK11):c.924G>A (p.Trp308Ter)	STK11 (W308*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3231751	NM_000455.5(STK11):c.703A>G (p.Lys235Glu)	STK11 (K235E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231750	NM_000455.5(STK11):c.629G>A (p.Cys210Tyr)	STK11 (C210Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231749	NM_000455.5(STK11):c.557C>A (p.Thr186Asn)	STK11 (T186N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231748	NM_000455.5(STK11):c.519G>A (p.Val173=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231747	NM_000455.5(STK11):c.328G>A (p.Val110Ile)	STK11 (V110I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231746	NM_000455.5(STK11):c.307A>C (p.Arg103=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231745	NM_000455.5(STK11):c.299A>C (p.Gln100Pro)	STK11 (Q100P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231744	NM_000455.5(STK11):c.28G>C (p.Gly10Arg)	STK11 (G10R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231742	NM_000455.5(STK11):c.262A>T (p.Ile88Phe)	STK11 (I88F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231741	NM_000455.5(STK11):c.1301G>A (p.Ter434=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231740	NM_000455.5(STK11):c.1298_1300del (p.Gln433_Ter434delinsArg)	STK11	Deletion (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231739	NM_000455.5(STK11):c.1285G>T (p.Ala429Ser)	STK11 (A429S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231738	NM_000455.5(STK11):c.1278del (p.Leu427fs)	STK11 (L427fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231737	NM_000455.5(STK11):c.1273C>G (p.Arg425Gly)	STK11 (R425G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231736	NM_000455.5(STK11):c.1270A>C (p.Ile424Leu)	STK11 (I424L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231735	NM_000455.5(STK11):c.1263C>G (p.Ser421Arg)	STK11 (S421R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231734	NM_000455.5(STK11):c.1235_1261dup (p.Ala420_Ser421insAsnProAlaArgLysAlaCysSerAla)	STK11	Duplication (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231733	NM_000455.5(STK11):c.1228G>C (p.Ala410Pro)	STK11 (A410P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231732	NM_000455.5(STK11):c.1205C>A (p.Thr402Asn)	STK11 (T402N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3231731	NM_000455.5(STK11):c.-1089_290+816dup	STK11	Duplication (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3171245	NM_000455.5(STK11):c.598-9C>G	STK11	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3171244	NM_000455.5(STK11):c.1089T>G (p.Thr363=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3148620	NM_000455.5(STK11):c.785dup (p.Leu263fs)	STK11 (L263fs)	Duplication (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148610	NM_000455.5(STK11):c.295del (p.Ile99fs)	STK11 (I99fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148590	NM_000455.5(STK11):c.1132del (p.Ser378fs)	STK11 (S378fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148503	NM_000455.5(STK11):c.1020C>G (p.Tyr340Ter)	LOC130062899, STK11 (Y340*)	Single nucleotide variant (nonsense +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148496	NM_000455.5(STK11):c.993dup (p.Trp332fs)	LOC130062899, STK11 (W332fs)	Duplication (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148416	NM_000455.5(STK11):c.290+1_290+2del	STK11	Deletion (splice donor variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3148380	NM_000455.5(STK11):c.1161del (p.Lys388fs)	STK11 (K388fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148301	NM_000455.5(STK11):c.238del (p.Leu80fs)	STK11 (L80fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148294	NM_000455.5(STK11):c.498C>A (p.Tyr166Ter)	STK11 (Y166*)	Single nucleotide variant (nonsense +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148085	NM_000455.5(STK11):c.1109-1G>A	STK11	Single nucleotide variant (splice acceptor variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3147990	NM_000455.5(STK11):c.889A>G (p.Arg297Gly)	STK11 (R297G)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3076192	NM_000455.5(STK11):c.16+8_16+28del	STK11	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076191	NM_000455.5(STK11):c.*14C>T	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3074514	NM_000455.5(STK11):c.529A>G (p.Ile177Val)	STK11 (I177V)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3073417	NM_000455.5(STK11):c.929G>T (p.Arg310Leu)	STK11 (R310L)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072972	NM_000455.5(STK11):c.401G>A (p.Cys134Tyr)	STK11 (C134Y)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072667	NM_000455.5(STK11):c.566C>A (p.Thr189Asn)	STK11 (T189N)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072640	NM_000455.5(STK11):c.1282T>C (p.Ser428Pro)	STK11 (S428P)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 1 +1 more	GUncertain significance
Select item 3072551	NM_000455.5(STK11):c.375-1C>A	STK11	Single nucleotide variant (splice acceptor variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072485	NM_000455.5(STK11):c.938A>G (p.His313Arg)	STK11 (H313R)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072086	NM_000455.5(STK11):c.1028A>G (p.Asp343Gly)	LOC130062899, STK11 (D343G)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance

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